CeGaT Tech Notes
Tech Note
Methylation Sequencing
Tech Note
Tumor Mutational Burden
Tech Note
Single-Cell RNA Sequencing
Tech Note
Towards a Highly Accurate Microbiome Analysis
Tech Note
The Best Possible Exome
Tech Note
Small RNA Sequencing
Tech Note
Choosing the right read length for diagnostic sequencing
Tech Note
On the quest for a more precise exome
Tech Note
Tumor mutation burden as predictive tumor marker
Recent CeGaT Publications
All CeGaT Publications
Circulating tumor DNA (ctDNA) in the detection of relapse in melanoma patients with adjuvant anti-PD-1 therapy.
Forschner A, Niessner H, Sinnberg T, Eigentler T, Amaral T, Seith F, Garbe C, Biskup S, Battke F
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2022 May 12.
PMID: 35555861
DOI: 10.1111/ddg.14766
Read abstract here.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Jamra RA , Oppermann H
Journal: American Journal of Human Genetics 2022 May 5;109(5):944-952.
PMID: 35358416
PMCID: PMC9118097
DOI: 10.1016/j.ajhg.2022.03.009
Read abstract here.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brünger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H, Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E, Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R, Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F, Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I, Weber Y
Journal: Neurology 2022 May 17;98(20):e2046-e2059.
PMID: 35314505
DOI: 10.1212/WNL.0000000000200660
Read abstract here.
Genetic counseling: development of requirements, contents, and quality management in Germany.
Kreuz, Friedmar R.
Journal: Medizinische Genetik 33:2021;45-52, Heft 1.
DOI: 10.1515/medgen-2021-2056
Read abstract here.
Medizinethische Überlegungen zur prädiktiven und pränatalen genetischen Diagnostik und Beratung.
Kreuz, Friedmar R.
Softcover Book/eBook: Springer 2022.
DOI: 10.1007/978-3-662-64220-7
Read abstract here (German).
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
Meyer M, Hollenbeck JC, Reunert J, Seelhöfer A, Rust S, Fobker M, Biskup S, Och U, Linden M, Sass JO, Marquardt T
Journal: Journal of Inherited Metabolic Disease 2021 Nov;44(6):1323-1329.
PMID: 34176136
DOI: 10.1002/jimd.12410
Read abstract here.
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Dohrn MF, Heller C, Zengeler D, Obermaier CD, Biskup S, Weis J, Nikolin S, Claeys KG, Schöne U, Beijer D, Winter N, Achenbach P, Gess B, Schulz JB, Mulahasanovic L
Journal: Neurological Research and Practice 2022 Feb 1;4(1):5.
PMID: 35101151
DOI: 10.1186/s42466-022-00169-w
Read abstract here.
Biomarkers Associated with Immune-Related Adverse Events under Checkpoint Inhibitors in Metastatic Melanoma.
Wölffer M, Battke F, Schulze M, Feldhahn M, Flatz L, Martus P, Forschner A
Journal: Cancers 2022 Jan 8.
PMID: 35053465
DOI: 10.3390/cancers14020302
Read abstract here.
Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.
Michaeli O, Ladany H, Erez A, Shachar SB, Izraeli S, Lidzbarsky G, Basel-Salmon L, Biskup S, Maruvka YE, Toledano H, Goldberg Y
Journal: Clinical Genetics 2021 Dec 29.
PMID: 34967012
DOI: 10.1111/cge.14106
Read abstract here.
Trio exome sequencing is highly relevant in prenatal diagnostics.
Gabriel H, Korinth D, Ritthaler M, Schulte B, Battke F, Kaisenberg C, Wüstemann M, Schulze B, Friedrich-Freksa A, Pfeiffer L, Entezami M, Schröer A, Bürger J, Schwaibold EMC, Lebek H, Biskup S
Journal: Prenatal Diagnosis 2021 Dec 27.
PMID: 34958143
DOI: 10.1002/pd.6081
Read abstract here.
Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and personalized neoepitope-derived multipeptide vaccinations: a case report.
Blumendeller C, Boehme J, Frick Maximilian, Schulze M, Rinckleb A, Kyzirakos C, Kayser S, Kopp M, Kelkenberg S, Pieper N, Bartsch O, Hadaschick D, Battke F, Stenzl A, Biskup S
Journal: Journal for Immunotherapy of Cancer 2021 Jan;9(1):e001406.
PMID: 33431630
PMCID: PMC7802705
DOI: 10.1136/jitc-2020-001406
Read abstract here.
The novel TRPM4 c.448G>T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death.
Kovacs B, Winnik S, Medeiros-Domingo A, Costa S, Fu G, Biskup S, Ruschitzka F, Flammer AJ, Tanner FC, Duru F, Saguner AM
Journal: Cardiology Journal 2021 Dec 13.
PMID: 34897640
DOI: 10.5603/CJ.a2021.0157
Read abstract here.
The phenotypic spectrum of PCDH12 associated disorders – Five new cases and review of the literature.
Fazeli W, Bamborschke D S, Moawia A, Bakhtiari S, Tafakhori A, Giersdorf M, Hahn A, Weik A, Kolzter K, Shafiee S, Jin SC, Körber F, Lee-Kirsch MA, Darvish H, Cirak S, Kruer MC, Koy A
Journal: European Journal of Paediatric Neurology: EJPN: Official Journal of the European Paediatric Neurology Society 2021 Oct 30;36:7-13.
PMID: 34773825
DOI: 10.1016/j.ejpn.2021.10.011
Read abstract here.
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Journal: Ear and Hearing 2021 Nov 8.
PMID: 34753855
DOI: 10.1097/AUD.0000000000001159
Read abstract here.
Controlling my genome with my smartphone: first clinical experiences of the PROMISE system.
Amr A, Hinderer M, Griebel L, Deuber D, Egger C, Sedaghat-Hamedani F, Kayvanpour E, Huhn D, Haas J, Frese K, Schweig M, Marnau N, Krämer A, Durand C, Battke F, Prokosch HU, Backes M, Keller A, Schröder D, Katus HA, Frey N, Meder B
Journal: Clinical Research in Cardiology: Official Journal of the German Cardiac Society 2021 Oct 25.
PMID: 34694434
DOI: 10.1007/s00392-021-01942-8
Read abstract here.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S
Journal: Movement Disorders: Official Journal of the Movement Disorder Society 2021 Oct 1.
PMID: 34596301
DOI: 10.1002/mds.28804
Read abstract here.
Identification of a New Genetic Mutation Associated With Peters Anomaly.
Faber H, Puk O, Holz A, Biskup S, Voykov B
Journal: Cornea 2021 Mar 1;40(3):373-376.
PMID: 33284162
DOI: 10.1097/ICO.0000000000002611
Read abstract here.
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Park JH, Mealer RG, Elias AF, Hoffmann S, Grüneberg M, Biskup S, Fobker M, Haven J, Mangels U, Reunert J, Rust S, Schoof J, Schwanke C, Smoller JW, Cummings RD, Marquardt T
Journal: Journal of Inherited Metabolic Disease 2020 Nov;43(6):1370-1381.
PMID: 32852845
PMCID: PMC8086894
DOI: 10.1002/jimd.12306
Read abstract here.
Targeting extracellular and juxtamembrane FGFR2 mutations in chemotherapy-refractory cholangiocarcinoma.
Bitzer M, Spahn S, Babaei S, Horger M, Singer S, Schulze-Osthoff K, Missios P, Gatidis S, Nann D, Mattern S, Scheble V, Nikolaou K, Armeanu-Ebinger S, Schulze M, Schroeder C, Biskup S, Beha J, Claassen M, Ruhm K, Poso A, Malek NP
Journal: NPJ Precision Oncology 2021 Sep 3;5(1):80.
PMID: 34480077
PMCID: PMC8417271
DOI: 10.1038/s41698-021-00220-0
Read abstract here.
Expanded phenotype of AARS1-related white matter disease.
Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Pizzino A, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA
Journal: Genetics in Medicine: Official Journal of the American College of Medical Genetics 2021 Dec;23(12):2352-2359.
PMID: 34446925
DOI: 10.1038/s41436-021-01286-8
Read abstract here.
Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.
Gunzer S, Kraus A, Buchroth I, Grüneberg M, Westermann C, Biskup S, Reunert J, Grünewald I, Marquardt T
Journal: Liver International: Official Journal of the International Association for the Study of the Liver 2021 Oct;41(10):2427-2432.
PMID: 34358398
DOI: 10.1111/liv.15029
Read abstract here.
A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
Heide EC, Puk O, Biskup S, Krahn A, Rauf E, Kreilkamp BAK, Paulus W, Focke NK
Journal: American Journal of Medical Genetics. Part A 2021 Dec;185(12):3838-3843.
PMID: 34327820
DOI: 10.1002/ajmg.a.62427
Read abstract here.
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B
Journal: PLOS ONE 2021 Jul 9;16(7):e0253987.
PMID: 34242285
PMCID: PMC8270428
DOI: 10.1371/journal.pone.0253987
Read abstract here.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM
Journal: International Journal of Molecular Sciences 2021 Jun 15;22(12):6410.
PMID: 34203883
PMCID: PMC8232641
DOI: 10.3390/ijms22126410
Read abstract here.
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Semino F, Schröter J, Willemsen MH, Bast T, Biskup S, Beck-Woedl S, Brennenstuhl H, Schaaf CP, Kölker S, Hoffmann GF, Haack TB, Syrbe S
Journal: Human Mutation 2021 Sep;42(9):1094-1100.
PMID: 34157790
DOI: 10.1002/humu.24245
Read abstract here.
Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant.
Mika T, Vangala D, Eckhardt M, La Rosée P, Lange C, Lehmberg K, Wohlschläger C, Biskup S, Fuchs I, Mann J, Ehl S, Warnatz K, Schroers R
Journal: Frontiers in Immunology 2021 May 10;12:682934.
PMID: 34040617
PMCID: PMC8143047
DOI: 10.3389/fimmu.2021.682934
Read abstract here.
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F
Journal: The Journal of Clinical Investigation 2021 Jun 15;131(12):e143078.
PMID: 33945503
PMCID: PMC8203463
DOI: 10.1172/JCI143078
Read abstract here.
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Döring JH, Schröter J, Jüngling J, Biskup S, Klotz KA, Bast T, Dietel T, Korenke GC, Christoph S, Brennenstuhl H, Rubboli G, Møller RS, Lesca G, Chaix Y, Kölker S, Hoffmann GF, Lemke JR, Syrbe S
Journal: International Journal of Molecular Sciences 2021 Mar 10;22(6):2824.
PMID: 33802230
PMCID: PMC7999221
DOI: 10.3390/ijms22062824
Read abstract here.
FGFR3 overexpression is a useful detection tool for FGFR3 fusions and sequence variations in glioma.
Schittenhelm J, Ziegler L, Sperveslage J, Mittelbronn M, Capper D, Burghardt I, Poso A, Biskup S, Skardelly M, Tabatabai G
Journal: Neuro-Oncology Practice 2020 Nov 20;8(2):209-221.
PMID: 33898054
PMCID: PMC8049444 (available on 2021-11-20)
DOI: 10.1093/nop/npaa075
Read abstract here.
Novel Mutation in the TSFM Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions.
van Riesen AK, Biskup S, Kühn AA, Kaindl AM, van Riesen C
Journal: Movement Disorders Clinical Practice 2021 Feb 5;8(3):453-455.
PMID: 33816677
PMCID: PMC8015916
DOI: 10.1002/mdc3.13144
Read abstract here.
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
Gburek-Augustat J, Schoene-Bake JC, Bültmann E, Haack T, Buchert R, Synofzik M, Biskup S, Feuerhake F, Sorge I, Hartmann H
Journal: Neuropediatrics 2021 Aug;52(4):274-283.
PMID: 33791999
DOI: 10.1055/s-0041-1726306
Read abstract here.
The p.Ala2430Val mutation in filamin C causes a “hypertrophic myofibrillar cardiomyopathy”.
Schänzer A, Schumann E, Zengeler D, Gulatz L, Maroli G, Ahting U, Sprengel A, Gräf S, Hahn A, Jux C, Acker T, Fürst DO, Rupp S, Schuld J, van der Ven PFM
Journal: Journal of Muscle Research and Cell Motility 2021 Jun;42(2):381-397.
PMID: 33710525
DOI: 10.1007/s10974-021-09601-1
Read abstract here.
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S
Journal: International Journal of Molecular Sciences 2021 Feb 27;22(5):2374.
PMID: 33673512
PMCID: PMC7956818
DOI: 10.3390/ijms22052374
Read abstract here.
The question of WGS’s clinical utility remains unanswered.
Battke F, Schulte B, Funke C, Schulze M, Biskup S
Journal: European Journal of Human Genetics 2021 May;29(5):722-723.
PMID: 33597733
PMCID: PMC8110542
DOI: 10.1038/s41431-021-00823-y
Read abstract here.
New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia.
Saathoff Y, Biskup S, Funke C, Roth C
Journal: Journal of Movement Disorders 2021 Jan;14(1):70-74.
PMID: 33121221
PMCID: PMC7840235
DOI: 10.14802/jmd.20082
Read abstract here.
Clinical and Genetic Tumor Characteristics of Responding and Non-Responding Patients to PD-1 Inhibition in Hepatocellular Carcinoma.
Spahn S, Roessler D, Pompilia R, Gabernet G, Gladstone BP, Horger M, Biskup S, Feldhahn M, Nahnsen S, Hilke FJ, Scheiner B, Dufour JF, De Toni EN, Pinter M, Malek NP, Bitzer M
Journal: Cancers (Basel) 2020 Dec 18;12(12):3830.
PMID: 33353145
PMCID: PMC7766321
DOI: 10.3390/cancers12123830
Read abstract here.
The Neuromodulator-Encoding sadA Gene Is Widely Distributed in the Human Skin Microbiome.
Luqman A, Zabel S, Rahmdel S, Merz B, Gruenheit N, Harter J, Nieselt K, Götz F
Journal: Frontiers in Microbiology 2020 Dec 1;11:573679.
PMID: 33335515
PMCID: PMC7736160
DOI: 10.3389/fmicb.2020.573679
Read abstract here.
A Highly Specific Assay for the Detection of SARS-CoV-2-Reactive CD4 + and CD8 + T Cells in COVID-19 Patients.
Zelba H, Worbs D, Harter J, Pieper N, Kyzirakos-Feger C, Kayser S, Seibold M, Bartsch O, Ködding J, Biskup S
Journal: Journal of Immunology 2021 Feb 1;206(3):580-587.
PMID: 33298615
DOI: 10.4049/jimmunol.2000811
Read abstract here.
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.
Rad A, Schade-Mann T, Gamerdinger P, Yanus GA, Schulte B, Müller M, Imyanitov EN, Biskup S, Löwenheim H, Tropitzsch A, Vona B
Journal: Human Mutation 2020 Nov 10.
PMID: 33169910
DOI: 10.1002/humu.24136
Read abstract here.
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Korenke GC, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K
Journal: Genetics in Medicine 2021 Feb;23(2):341-351.
PMID: 33024317
PMCID: PMC7862056
DOI: 10.1038/s41436-020-00979-w
Read abstract here.
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N, RD-CURE Consortium
Journal: JAMA Ophthalmology 2020 Oct 15;138(12):1241-1250.
PMID: 33057649
PMCID: PMC7563671 (available on 2021-10-15)
DOI: 10.1001/jamaophthalmol.2020.4206
Read abstract here.
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.
Willimsky EK, Munzig A, Mayer K, Biskup S, Abicht A, Hoertnagel K, von Voss H, Klein HG, Rost I, Larsen LHG, Dahl HA, Hoelz H, von Stuelpnagel C, Borggraefe I
Journal: Neuropediatrics 2020 Oct 21.
PMID: 33086385
DOI: 10.1055/s-0040-1712488
Read abstract here.
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Neumann MAC, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünewald A, Wissinger B, Krüger R
Journal: Scientific Reports 2020 Oct 7;10(1):16736.
PMID: 33028849
PMCID: PMC7541502
DOI: 10.1038/s41598-020-73557-4
Read abstract here.
Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case series.
Walter C, Hartkopf A, Koch A, Klaumünzer M, Schulze M, Grischke EM, Taran FA, Brucker S, Battke F, Biskup S
Journal: Oncotarget 2020 Sep 1;11(35):3279-3285.
PMID: 32934773
PMCID: PMC7476733
DOI: 10.18632/oncotarget.27704
Read abstract here.
A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.
Korenke GC, Schulte B, Biskup S, Neidhardt J, Owczarek-Lipska M
Journal: Molecular Syndromology 2020 Jul;11(3):135-140.
PMID: 32903878
PMCID: PMC7445578 (available on 2021-07-01)
DOI: 10.1159/000508566
Read abstract here.
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, de Macena Sobreira NL, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D
Journal: Journal of Medical Genetics 2020 Aug 20;jmedgenet-2020-107137.
PMID: 32820033
DOI: 10.1136/jmedgenet-2020-107137
Read abstract here.
The Patient as Genomic Data Manager – Evaluation of the PROMISE App
Griebel L, Hinderer M, Amr A, Meder B, Schweig M, Deuber D, Egger C, Kawohl C, Krämer A, Flade I, Schröder D, Prokosch HU
Journal: Studies in Health Technology and Informatics 2020 Jun 16;270:1061-1065.
PMID: 32570544
DOI: 10.3233/SHTI200324
Read abstract here.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Gelb BD, Kurth I, Hempel M, Kutsche K.
Journal: Brain 2020 Aug 1;143(8):2437-2453.
PMID: 32761064
DOI: 10.1093/brain/awaa204
Read abstract here.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O’Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H.
Journal: American Journal of Human Genetics 2020 Aug 6;107(2):311-324.
PMID: 32738225
DOI: 10.1016/j.ajhg.2020.06.016
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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Lenz D, Smith DEC, Crushell E, Husain RA, Salomons GS, Alhaddad B, Bernstein JA, Bianzano A, Biskup S, Brennenstuhl H, Caldari D, Dikow N, Haack TB, Hanson-Kahn A, Harting I, Horn D, Hughes J, Huijberts M, Isidor B, Kathemann S, Kopajtich R, Kotzaeridou U, Küry S, Lainka E, Laugwitz L, Lupski JR, Posey JE, Reynolds C, Rosenfeld JA, Schröter J, Vansenne F, Wagner M, Weiß C, Wolffenbuttel BHR, Wortmann SB, Kölker S, Hoffmann GF, Prokisch H, Mendes MI, Staufner C.
Journal: Genetics in Medicine 2020 Nov;22(11):1863-1873.
PMID: 32699352
DOI: 10.1038/s41436-020-0904-4
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Depatux-M and temozolomide in advanced high-grade glioma.
Hirsch S, Roggia C, Biskup S, Bender B, Gepfner-Tuma I, Eckert F, Zips D, Malek NP, Wilhelm H, Renovanz M, Tabatabai G.
Journal: Neuro-Oncology Advances 2020 Jun 6;2(1):vdaa063.
PMID: 32705082
DOI: 10.1093/noajnl/vdaa063
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COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.
Mandel H, Kfir NC, Fedida A, Biton ES, Odeh M, Kalfon L, Harouch SB, Fleischer VS, Hoffman Y, Goldberg Y, Dinwiddie A, Dumin E, Eran A, Apel-Sarid L, Tiosano D, Falik-Zaccai TC.
Journal: Clinical Genetics 2020 Oct;98(4):402-407.
PMID: 32683677
DOI: 10.1111/cge.13816
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Circulating Tumor DNA Correlates with Outcome in Metastatic Melanoma Treated by BRAF and MEK Inhibitors – Results of a Prospective Biomarker Study.
Forschner A, Weißgraeber S, Hadaschik D, Schulze M, Kopp M, Kelkenberg S, Sinnberg T, Garbe C, Biskup S, Battke F.
Journal: OncoTargets and Therapy 2020 Jun 4;13:5017-5032.
PMID: 32581559
DOI: 10.2147/OTT.S248237
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TMEM16A Deficiency: A Potentially Fatal Neonatal Disease Resulting From Impaired Chloride Currents.
Park JH, Ousingsawat J, Cabrita I, Bettels RE, Große-Onnebrink J, Schmalstieg C, Biskup S, Reunert J, Rust S, Schreiber R, Kunzelmann K, Marquardt T.
Journal: Journal of Medical Genetetics 2020 Jun 2. pii: jmedgenet-2020-106978.
PMID: 32487539
DOI: 10.1136/jmedgenet-2020-106978
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Cancer Incidence and Spectrum Among Children With Genetically Confirmed Beckwith-Wiedemann Spectrum in Germany: A Retrospective Cohort Study.
Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, Prawitt D, Beckmann A, Klaes R, Nevinny-Stickel-Hinzpeter C, Döhnert S, Kraus C, Kadgien G, Vater I, Biskup S, Kutsche M, Kohlhase J, Eggermann T, Zenker M, Kratz CP.
Journal: British Journal of Cancer 2020 Aug;123(4):619-623.
PMID: 32451468
DOI: 10.1038/s41416-020-0911-x
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Mutational and Phenotypic Expansion of ATP1A3-related Disorders: Report of Nine Cases.
Boonsimma P, Michael Gasser M, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Wagner M, Krenn M, Zimprich F, Abicht A, Biskup S, Roser T, Borggraefe I, Suphapeetiporn K, Shotelersuk V.
Journal: Gene 2020 Jul 30;749:144709.
PMID: 32339621
DOI: 10.1016/j.gene.2020.144709
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Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?
Amaral T, Schulze M, Sinnberg T, Nieser M, Martus P, Battke F, Garbe C, Biskup S, Forschner A.
Journal: Cancers 2020 Apr 28;12(5):1101.
PMID: 32354124
DOI: 10.3390/cancers12051101
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Genetic Architecture of Inherited Retinal Degeneration in Germany: A Large Cohort Study From a Single Diagnostic Center Over a 9-year Period.
Weisschuh N, Obermeier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S.
Journal: Human Mutation 2020 Sep;41(9):1514-1527.
PMID: 32531858
DOI: 10.1002/humu.24064
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Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J.
Journal: Brain Pathology 2020 Sep;30(5):877-896.
PMID: 32419263
DOI: 10.1111/bpa.12864
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FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Zimmermann M, Schuster S, Boesch S, Korenke GC, Mohr J, Reichbauer J, Kernstock C, Kotzot D, Spahlinger V, Schüle-Freyer R, Schöls L.
Journal: Parkinsonism & Related Disorders 2020 May;74:6-11.
PMID: 32268254
DOI: 10.1016/j.parkreldis.2020.03.021
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Interference With Complex IV as a Model of Age-Related Decline in Synaptic Connectivity.
Kriebel M, Ebel J, Battke F, Griesbach S, Volkmer H.
Journal: Frontiers in Molecular Neuroscience 2020 Mar 24;13:43.
PMID: 32265651
PMCID: PMC7105595
DOI: 10.3389/fnmol.2020.00043
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Peripheral PD-1+CD56+ T-cell frequencies correlate with outcome in stage IV melanoma under PD-1 blockade.
Bochem J, Zelba H, Amaral T, Spreuer J, Soffel D, Eigentler T, Wagner NB, Uslu U, Terheyden P, Meier F, Garbe C, Pawelec G, Weide B, Wistuba-Hamprecht K.
Journal: PLoS One 2019 Aug 16;14(8):e0221301.
PMID: 31419253
PMCID: PMC6697319
DOI: 10.1371/journal.pone.0221301
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Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.
Grosse GM, Bauer C, Kopp B, Schrader C, Osmanovic A.
Journal: BMC Medical Genetics 2020 Mar 2;21(1):45.
PMID: 32122354
PMCID: PMC7050135
DOI: 10.1186/s12881-020-0984-7
Read abstract here.
Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours.
Brenner E, Schörg BF, Ahmetlić F, Wieder T, Hilke FJ, Simon N, Schroeder C, Demidov G, Riedel T, Fehrenbacher B, Schaller M, Forschner A, Eigentler T, Niessner H, Sinnberg T, Böhm KS, Hömberg N, Braumüller H, Dauch D, Zwirner S, Zender L, Sonanini D, Geishauser A, Bauer J, Eichner M, Jarick KJ, Beilhack A, Biskup S, Döcker D, Schadendorf D, Quintanilla-Martinez L, Pichler BJ, Kneilling M, Mocikat R, Röcken M.
Journal: Nature Communications 2020 Mar 12;11(1):1335.
PMID: 32165639
PMCID: PMC7067802
DOI: 10.1038/s41467-020-14987-6
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ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C.
Journal: Journal of Clinical Neuroscience 2020 Feb;72:31-38.
PMID: 31959558
DOI: 10.1016/j.jocn.2020.01.041
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NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
Sandestig A, Engström K, Pepler A, Danielsson I, Odelberg-Johnsson P, Biskup S, Holz A, Stefanova M.
Journal: Molecular Syndromology 2020 Jan;10(6):313-319.
PMID: 32021605
PMCID: PMC6995945
DOI: 10.1159/000504818
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Oncogenic KRAS hotspot mutations are rare in IDH-mutant gliomas.
Schittenhelm J, Krischker N, Gepfner-Tuma I, Behling F, Noell S, Eckert F, Biskup S, Tabatabai G.
Journal: Brain Pathology 2019 May;29(3):321-324.
PMID: 30676672
DOI: 10.1007/s00439-019-02093-7
Read abstract here.
Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.
Tremmel R, Klein K, Battke F, Fehr S, Winter S, Scheurenbrand T, Schaeffeler E, Biskup S, Schwab M, Zanger UM.
Journal: Human Genetics 2020 Feb;139(2):137-149.
PMID: 31786673
DOI: 10.1007/s00439-019-02093-7
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The Genomic Impact of European Colonization of the Americas.
Ongaro L, Scliar MO, Flores R, Raveane A, Marnetto D, Sarno S, Gnecchi-Ruscone GA, Alarcón-Riquelme ME, Patin E, Wangkumhang P, Hellenthal P, Gonzalez-Santos M, King RJ, Kouvatsi A, Balanovsky O, Balanovska E, Atramentova L, Turdikulova S, Mastana S, Marjanovic D, Mulahasanovic L, Leskovac A, Lima-Costa MF, Pereira AC, Barreto ML, Horta BL, Mabunda N, May CA, Moreno-Estrada A, Achilli A, Olivieri A, Semino O, Tambets K, Kivisild T, Luiselli D, Torroni A, Capelli C, Tarazona-Santos E, Metspalu M, Pagani L, Montinaro F.
Journal: Current Biology 2019 Dec 2;29(23):3974-3986.e4.
PMID: 31735679
DOI: 10.1016/j.cub.2019.09.076
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Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
Nasser F, Kurtenbach A, Biskup S, Weidensee S, Kohl S, Zrenner E.
Journal: Acta Ophthalmologica 2020 May;98(3):e316-e321.
PMID: 31580008
DOI: 10.1111/aos.14255
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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR.
Journal: American Journal of Medical Genetics 2019 Dec;179(12):2447-2453.
PMID: 31512363
DOI: 10.1002/ajmg.a.61354
Read abstract here.
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T.
Journal: Brain 2019 Aug 1;142(8):2230-2237.
PMID: 31332433
DOI: 10.1093/brain/awz182
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Comparative characterization of human induced pluripotent stem cells (hiPSC) derived from patients with schizophrenia and autism.
Grunwald LM, Stock R, Haag K, Buckenmaier S, Eberle MC, Wildgruber D, Storchak H, Kriebel M, Weißgraeber S, Mathew L, Singh Y, Loos M, Li KW, Kraushaar U, Fallgatter AJ, Volkmer H.
Journal: Translational Psychiatry 2019 Jul 29;9(1):179.
PMID: 31358727
PMCID: PMC6663940
DOI: 10.1038/s41398-019-0517-3
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Tumor mutation burden and circulating tumor DNA in combined CTLA-4 and PD-1 antibody therapy in metastatic melanoma – results of a prospective biomarker study.
Forschner A, Battke F, Hadaschik D, Schulze M, Weißgraeber S, Han CT, Kopp M, Frick M, Klumpp B, Tietze N, Amaral T, Martus P, Sinnberg T, Eigentler T, Keim U, Garbe C, Döcker D, Biskup S.
Journal: Journal for Immunotherapy of Cancer 2019 Jul 12;7(1):180.
PMID: 31300034
PMCID: PMC6625062
DOI: 10.1186/s40425-019-0659-0
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Novel MECP2 Mutation c.1162_1172del p.Pro388 in Two Patients with Symptoms of Atypical Rett Syndrome.
Bernstein U, Demuth S, Puk O, Eichhorn B, Schulz S.
Journal: Molecular Syndromology 2019 Jul;10(4):223-228.
PMID: 31602196
PMCID: PMC6738185
DOI: 10.1159/000501183
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Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J.
Journal: Molecular Biology Reports 2019 Aug;46(4):4507-4516.
PMID: 31270756
DOI: 10.1007/s11033-019-04906-4
Read abstract here.
PEDIA: prioritization of exome data by image analysis.
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.
Journal: Genetics in Medicine 2019 Dec;21(12):2807-2814.
PMID: 31164752
PMCID: PMC6892739
DOI: 10.1038/s41436-019-0566-2
Read abstract here.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D’Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R.
Journal: Brain 2019 Jun 1;142(6):1561-1572.
PMID: 31135052
PMCID: PMC6536916
DOI: 10.1093/brain/awz102
Read abstract here.
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR.
Journal: Genetics in Medicine 2019 Nov;21(11):2496-2503.
PMID: 31056551
DOI: 10.1038/s41436-019-0531-0
Read abstract here.
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Carstens PO, Schwaibold EMC, Schregel K, Obermaier CD, Wrede A, Zechel S, Pauli S, Schmidt J.
Journal: Neurology. Genetics 2019 Apr 26;5(3):e327.
PMID: 31192301
PMCID: PMC6515939
DOI: 10.1212/nxg.0000000000000327
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A case of X-linked retinoschisis with atypical fundus appearance.
Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier CD, Kurtenbach A, Zrenner E.
Journal: Documenta Ophthalmologica 2019 Aug;139(1):75-81.
PMID: 31006083
DOI: 10.1007/s10633-019-09698-3
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A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
Suriyanarayanan S, Othman A, Dräger B, Schirmacher A, Young P, Mulahasanovic L, Hörtnagel K, Biskup S, von Eckardstein A, Hornemann T, Lone MA.
Journal: Neuromolecular Medicine 2019 Jun;21(2):182-191.
PMID: 30955194
DOI: 10.1007/s12017-019-08534-w
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Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome.
Roeben B, Blum D, Gabriel H, Synofzik M.
Journal: Journal of Neurology 2019 Mar;266(3):775-776.
PMID: 30617906
DOI: 10.1007/s00415-019-09182-7
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The Parkinson’s disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4.
Funk N, Munz M, Ott T, Brockmann K, Wenninger-Weinzierl A, Kühn R, Vogt-Weisenhorn D, Giesert F, Wurst W, Gasser T, Biskup S.
Journal: Scientific Reports 2019 Mar 14;9(1):4515.
PMID: 30872638
PMCID: PMC6418296
DOI: 10.1038/s41598-019-40808-y
Read abstract here.
Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas.
Hickmann AK, Frick M, Hadaschik D, Battke F, Bittl M, Ganslandt O, Biskup S, Döcker D.
Journal: BMC Cancer 2019 Mar 1;19(1):192.
PMID: 30823914
PMCID: PMC6397454
DOI: 10.1186/s12885-019-5394-x
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Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
Ikenberg E, Reilich P, Abicht A, Heller C, Schoser B, Walter MC.
Journal: Neuromuscular Disorders : NMD 2019 May;29(5):392-397.
PMID: 30992180
DOI: 10.1016/j.nmd.2019.02.007
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Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.
Nasser F, Mulahasanovic L, Alkhateeb M, Biskup S, Stingl K, Zrenner E.
Journal: Documenta Ophthalmologica 2019 Apr;138(2):153-160.
PMID: 30710256
DOI: 10.1007/s10633-019-09675-w
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A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.
Klein K, Tremmel R, Winter S, Fehr S, Battke F, Scheurenbrand T, Schaeffeler E, Biskup S, Schwab M, Zanger UM.
Journal: Frontiers in Genetics 2019 Jan 31;10:7.
PMID: 30766545
PMCID: PMC6365429
DOI: 10.3389/fgene.2019.00007
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Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.
Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S.
Journal: Graefe’s Archive for Clinical and Experimental Ophthalmology 2019 Mar;257(3):629-638.
PMID: 30656474
DOI: 10.1007/s00417-018-04233-7
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Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.
Sandestig A, Green A, Jonasson J, Vogt H, Wahlström J, Pepler A, Ellnebo K, Biskup S, Stefanova M.
Journal: Molecular Syndromology 2019 Jan;9(5):259-265.
PMID: 30733661
PMCID: PMC6362929
DOI: 10.1159/000492267
Read abstract here.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.
Journal: American Journal of Human Genetics 2019 Feb 7;104(2):203-212.
PMID: 30612693
PMCID: PMC6369540
DOI: 10.1016/j.ajhg.2018.12.008
Read abstract here.
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?
Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G.
Journal: JIMD Reports 2019;45:99-104.
PMID: 30569318
PMCID: PMC6336674
DOI: 10.1007/8904_2018_148
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GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA; GRIN2A study group , Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR.
Journal: Brain 2019 Jan 1;142(1):80-92.
PMID: 30544257
PMCID: PMC6308310
DOI: 10.1093/brain/awy304
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Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM.
Journal: Neurology 2018 Nov 27;91(22):e2078-e2088.
PMID: 30413629
PMCID: PMC6282239
DOI: 10.1212/WNL.0000000000006567
Read abstract here.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.
Journal: American Journal of Human Genetics 2018 Nov 1;103(5):666-678.
PMID: 30343943
PMCID: PMC6216110
DOI: 10.1016/j.ajhg.2018.09.006
Read abstract here.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M,Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM.
Journal: Annals of Neurology 2018 Nov;84(5):766-780.
PMID: 30295347
PMCID: PMC6295419
DOI: 10.1002/ana.25351
Read abstract here.
Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism.
Zimmermann M, Wilke C, Schulte C, Hoffmann J, Klopfer J, Reimold M, Brockmann K, Synofzik M.
Journal: Parkinsonism & Related Disorders 2018 Oct;55:145-147.
PMID: 29910155
DOI: 10.1016/j.parkreldis.2018.06.006
Read abstract here.
TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.
Traschütz A, Hayer SN, Bender B, Schöls L, Biskup S, Synofzik M.
Journal: Parkinsonism & Related Disorders 2019 Mar;60:176-178.
PMID: 30297209
DOI: 10.1016/j.parkreldis.2018.09.031
Read abstract here.
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.
Fan C, Kuhn M, Mbiol AP, Groome J, Winston V, Biskup S, Lehmann-Horn F, Jurkat-Rott K.
Journal: Acta Myologica 2018 Sep 1;37(3):193-203.
PMID: 30838349
PMCID: PMC6390110
Read abstract here.
Tdrd6a Regulates the Aggregation of Buc into Functional Subcellular Compartments that Drive Germ Cell Specification.
Roovers EF, Kaaij LJT, Redl S, Bronkhorst AW, Wiebrands K, de Jesus Domingues AM, Huang HY, Han CT, Riemer S, Dosch R, Salvenmoser W, Grün D, Butter F, van Oudenaarden A, Ketting RF.
Journal: Developmental Cell 2018 Aug 6;46(3):285-301.e9.
PMID: 30086300
PMCID: PMC6084408
DOI: 10.1016/j.devcel.2018.07.009
Read abstract here.
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S.
Journal: Human Mutation 2018 Oct;39(10):1366-1371.
PMID: 30080950
DOI: 10.1002/humu.23606
Read abstract here.
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C.
Journal: European Journal of Neurology 2018 Jul;25(7):943-e71.
PMID: 29528531
DOI: 10.1111/ene.13625
Read abstract here.
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Ambrosino P, Soldovieri MV, Bast T, Turnpenny PD, Uhrig S, Biskup S, Döcker M, Fleck T, Mosca I, Manocchio L, Iraci N, Taglialatela M, Lemke JR.
Journal: Annals of Neurology 2018 Jun;83(6):1198-1204.
PMID: 29740868
DOI: 10.1002/ana.25248
Read abstract here.
Fgf9 Y162C Mutation Alters Information Processing and Social Memory in Mice.
Garrett L, Becker L, Rozman J, Puk O, Stoeger T, Yildirim AÖ, Bohla A, Eickelberg O, Hans W, Prehn C, Adamski J, Klopstock T, Rácz I, Zimmer A, Klingenspor M, Fuchs H, Gailus-Durner V, Wurst W, Hrabě de Angelis M, Graw J, Hölter SM.
Journal: Molecular Neurobiology 2018 Jun;55(6):4580-4595.
PMID: 28695538
DOI: 10.1007/s12035-017-0659-3
Read abstract here.
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.
Navarro Moreno C, Delestienne A, Marbaix E, Aydin S, Hörtnagel K, Lechner S, Sznajer Y, Beauloye V, Maiter D, Lysy PA.
Journal: Hormone Research in Paediatrics 2018;89(6):423-433.
PMID: 29909407
DOI: 10.1159/000488761
Read abstract here.
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S.
Journal: Investigative Ophthalmology & Visual Science 2018 Jun 1;59(7):3041-3052.
PMID: 30025130
DOI: 10.1167/iovs.18-24033
Read abstract here.
A new mutation in enhanced S-cone syndrome.
Termühlen J, Alex AF, Glöckle N, Kellner U, Fiedler B, Eter N, Uhlig CE.
Journal: Acta Ophthalmologica 2018 Jun;96(4):e539-e540.
PMID: 27573156
DOI: 10.1111/aos.13205
No Abstract Available.
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
Nasser F, Weisschuh N, Maffei P, Milan G, Heller C, Zrenner E, Kohl S, Kuehlewein L.
Journal: Acta Ophthalmologica 2018 Jun;96(4):e445-e454.
PMID: 29193673
DOI: 10.1111/aos.13612
Read abstract here.
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation.
Thomas C, Zühlsdorf A, Hörtnagel K, Mulahasanovic L, Grauer OM, Kümpers P, Wiendl H, Meuth SG.
Journal: Frontiers in Neurology 2018 May 25;9:383.
PMID: 29887830
PMCID: PMC5980969
DOI: 10.3389/fneur.2018.00383
Read abstract here.
McArdle’s disease: A differential diagnosis of idiopathic toe walking.
Pomarino D, Martin S, Pomarino A, Morigeau S, Biskup S.
Journal: Journal of Orthopaedics 2018 May 8;15(2):685-689.
PMID: 29881221
PMCID: PMC5990294
DOI: 10.1016/j.jor.2018.05.024
Read abstract here.
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.
Journal: Molecular Vision 2018 Apr 26;24:326-339.
PMID: 29769798
PMCID: PMC5937672
Read abstract here.
Genetic heterogeneity of primary lesion and metastasis in small intestine neuroendocrine tumors.
Walter D, Harter PN, Battke F, Winkelmann R, Schneider M, Holzer K, Koch C, Bojunga J, Zeuzem S, Hansmann ML, Peveling-Oberhag J, Waidmann O.
Journal: Scientific Reports 2018 Feb 28;8(1):3811.
PMID: 29491456
PMCID: PMC5830878
DOI: 10.1038/s41598-018-22115-0
Read abstract here.
Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report.
Sonntag K, Hashimoto H, Eyrich M, Menzel M, Schubach M, Döcker D, Battke F, Courage C, Lambertz H, Handgretinger R, Biskup S, Schilbach K.
Journal: Journal of Translational Medicine 2018 Feb 6;16(1):23.
PMID: 29409514
PMCID: PMC5801813
DOI: 10.1186/s12967-018-1382-1
Read abstract here.
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.
Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M.
Journal: Neurobiology of Aging 2018 Feb;62:244.e9-244.e13.
PMID: 29137817
DOI: 10.1016/j.neurobiolaging.2017.10.010
Read abstract here.
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.
Hofstaetter C, Courage C, Bartholdi D, Biskup S, Raio L.
Journal: Clinical Case Reports 2018 Jan 17;6(2):420-425.
PMID: 29445489
PMCID: PMC5799658
DOI: 10.1002/ccr3.1368
Read abstract here.
Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3.
Schänzer A, Rupp S, Gräf S, Zengeler D, Jux C, Akintürk H, Gulatz L, Mazhari N, Acker T, Van Coster R, Garvalov BK, Hahn A.
Journal: Molecular Genetics and Metabolism 2018 Mar;123(3):388-399.
PMID: 29338979
DOI: 10.1016/j.ymgme.2018.01.001
Read abstract here.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K.
Journal: Genetics in Medicine 2018 Jan;20(1):98-108.
PMID: 28661489
DOI: 10.1038/gim.2017.75
Read abstract here.
Why is it necessary to examine retina when the patient suffers from aplastic anemia?
Tomcikova D, Gerinec A, Busanyova B, Gresikova M, Biskup S, Hortnagel K.
Journal: Bratislavske Lekarske Listy 2018;119(5):275-277.
PMID: 29749240
DOI: 10.4149/BLL_2018_051
Read abstract here.
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
Grzybowski M, Schänzer A, Pepler A, Heller C,Neubauer BA, Hahn A.
Journal: Neuropediatrics 2017 Dec;48(6):451-455.
PMID: 28411587
DOI: 10.1055/s-0037-1601868
Read abstract here.
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S.
Journal: Journal of Neurochemistry 2017 Dec;143(5):507-522.
PMID: 28902413
DOI: 10.1111/jnc.14217
Read abstract here.
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3’UTR-encoded, aggregation-inducing motif.
Bock AS, Günther S, Mohr J, Goldberg LV, Jahic A, Klisch C, Hübner CA, Biskup S, Beetz C.
Journal: Human Mutation 2018 Feb;39(2):193-196.
PMID: 29124833
DOI: 10.1002/humu.23369
Read abstract here.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.
Journal: Brain 2017 Nov 1;140(11):2879-2894.
PMID: 29053855
DOI: 10.1093/brain/awx236
Read abstract here.
Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis.
Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS.
Journal: Annals of Neurology 2017 Oct;82(4):562-577.
PMID: 28892560
DOI: 10.1002/ana.25044
Read abstract here.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R.
Journal: Brain 2017 Sep 1;140(9):2322-2336.
PMID: 29050398
PMCID: PMC6248409
DOI: 10.1093/brain/awx195
Read abstract here.
Characterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.
Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T.
Journal: Mitochondrion 2017 Sep;36:15-20.
PMID: 27721048
DOI: 10.1016/j.mito.2016.10.002
Read abstract here.
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.
Hermann A, Kitzler HH, Pollack T, Biskup S, Krüger S, Funke C, Terrile C, Haack TB.
Journal: Tremor and Other Hyperkinetic Movements (New York) 2017 Aug 8;7:465.
PMID: 29082105
PMCID: PMC5656753
DOI: 10.7916/D8251WB0
Read abstract here.
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
Montagnese F, Klupp E, Karampinos DC,Biskup S, Gläser D, Kirschke JS, Schoser B.
Journal: Muscle & Nerve 2017 Aug;56(2):334-340.
PMID: 27874200
DOI: 10.1002/mus.25485
Read abstract here.
CDHR1 mutations in retinal dystrophies.
Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N.
Journal: Scientific Reports 2017 Aug 1;7(1):6992.
PMID: 28765526
PMCID: PMC5539332
DOI: 10.1038/s41598-017-07117-8
Read abstract here.
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Blauwendraat C, Wilke C, Simón-Sánchez J, Jansen IE, Reifschneider A, Capell A, Haass C, Castillo-Lizardo M, Biskup S, Maetzler W, Rizzu P, Heutink P, Synofzik M.
Journal: Genetics in Medicine 2018 Feb;20(2):240-249.
PMID: 28749476
PMCID: PMC5846812
DOI: 10.1038/gim.2017.102
Read abstract here.
Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.
Smogavec M, Zschüntzsch J, Kress W, Mohr J, Hellen P, Zoll B, Pauli S, Schmidt J.
Journal: Neurology. Genetics 2017 Jul 10;3(4):e167.
PMID: 28785732
PMCID: PMC5524525
DOI: 10.1212/NXG.0000000000000167
Read abstract here.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K.
Journal: Genetics in Medicine 2018 Jan;20(1):98-108.
PMID: 28661489
DOI: 10.1038/gim.2017.75
Read abstract here.
The role of genetic testing in epilepsy diagnosis and management.
Weber YG, Biskup S, Helbig KL, Von Spiczak S, Lerche H.
Journal: Expert Review of Molecular Diagnostics 2017 Aug;17(8):739-750.
PMID: 28548558
DOI: 10.1080/14737159.2017.1335598
Read abstract here.
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.
Von Stülpnagel C, Ensslen M, Møller RS, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hörtnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I.
Journal: European Journal of Paediatric Neurology 2017 May;21(3):530-541.
PMID: 28109652
DOI: 10.1016/j.ejpn.2017.01.001
Read abstract here.
Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.
Feldhaus B, Kohl S, Hörtnagel K, Weisschuh N, Zobor D.
Journal: Ophthalmic Genetics Jan-Feb 2018;39(1):131-134.
PMID: 28481129
DOI: 10.1080/13816810.2017.1318925
Read abstract here.
Nerve enlargement in an unusual case of inflammatory neuropathy and new gene mutation-morphology is the key.
Grimm A, Winter N, Wolking S, Vittore D, Biskup S, Axer H.
Journal: Neurological Sciences 2017 Aug;38(8):1525-1527.
PMID: 28424919
DOI: 10.1007/s10072-017-2960-3
No Abstract Available.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.
Journal: Brain 2017 May 1;140(5):1316-1336.
PMID: 28379373
DOI: 10.1093/brain/awx054
Read abstract here.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.
Journal: Journal of Medical Genetics 2017 Jul;54(7):460-470.
PMID: 28377535
PMCID: PMC5656050
DOI: 10.1136/jmedgenet-2016-104509
Read abstract here.
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A.
Journal: American Journal of Medical Genetics Part A 2017 Apr;173(4):959-965.
PMID: 28328125
DOI: 10.1002/ajmg.a.38102
Read abstract here.
Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation.
Hoelz H, Coppenrath E, Hoertnagel K, Roser T, Tacke M, Gerstl L, Borggraefe I.
Journal: Clinical EEG and Neuroscience 2018 May;49(3):187-191.
PMID: 28762286
DOI: 10.1177/1550059417697841
Read abstract here.
Intratumoral heterogeneity of intrahepatic cholangiocarcinoma.
Walter D, Döring C, Feldhahn M, Battke F, Hartmann S, Winkelmann R, Schneider M, Bankov K, Schnitzbauer A, Zeuzem S, Hansmann ML, Peveling-Oberhag J.
Journal: Oncotarget 2017 Feb 28;8(9):14957-14968.
PMID: 28146430
PMCID: PMC5362457
DOI: 10.18632/oncotarget.14844
Read abstract here.
Expanded phenotype and hippocampal involvement in a novel compound heterozygosity of adult PLA2G6 associated neurodegeneration (PARK14).
Michelis JP, Hattingen E, Gaertner FC, Minnerop M, Träber F, Biskup S, Klockgether T, Paus S.
Journal: Parkinsonism & Related Disorders 2017 Apr;37:111-113.
PMID: 28094106
DOI: 10.1016/j.parkreldis.2017.01.005
Read abstract here.
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.
Karin I, Borggraefe I, Catarino CB, Kuhm C, Hörtnagel K, Biskup S, Opladen T, Blau N, Heinen F, Klopstock T.
Journal: Journal of Neurology 2017 Mar;264(3):578-582.
PMID: 28054128
DOI: 10.1007/s00415-016-8387-6
Read abstract here.
Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.
Schubert V, Auffenberg E, Biskup S, Jurkat-Rott K, Freilinger T.
Journal: Cephalalgia 2018 Jul;38(8):1503-1508.
PMID: 29145747
DOI: 10.1177/0333102417742365
Read abstract here.
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.
Bonifert T, Gonzalez Menendez I, Battke F, Theurer Y, Synofzik M, Schöls L, Wissinger B.
Journal: Molecular Therapy. Nucleic Acids 2016 Nov 22;5(11):e390.
PMID: 27874857
PMCID: PMC5155325
DOI: 10.1038/mtna.2016.93
Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformations.
Linnebank M, McDougall CG, Krüger S, Biskup S, Neumann M, Weller M, Valavanis A, Prudlo J.
Journal: Swiss Medical Weekly 2016 Nov 12;146:w14361.
PMID: 27878793
DOI: 10.4414/smw.2016.14361
Read abstract here.
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Krüger S, Battke F, Sprecher A, Munz M, Synofzik M, Schöls L, Gasser T, Grehl T, Prudlo J, Biskup S.
Journal: Frontiers in Molecular Neuroscience 2016 Oct 13;9:92.
PMID: 27790088
PMCID: PMC5061735
DOI: 10.3389/fnmol.2016.00092
Read abstract here.
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ.
Journal: American Journal of Human Genetics 2016 Oct 6;99(4):802-816.
PMID: 27616483
PMCID: PMC5065652
DOI: 10.1016/j.ajhg.2016.07.013
Read abstract here.
Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.
Mohammad S, Wolfe LA, Stöbe P, Biskup S, Wainwright MS, Melin-Aldana H, Malladi P, Muenke M, Gahl WA, Whitington PF.
Journal: The Journal of Pediatrics 2016 Dec;179:144-149.e2.
PMID: 27640355
DOI: 10.1016/j.jpeds.2016.08.043
Read abstract here.
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.
Hogrebe M, Murakami Y, Wild M, Ahlmann M, Biskup S, Hörtnagel K, Grüneberg M, Reunert J, Linden T, Kinoshita T, Marquardt T.
Journal: American Journal of Medical Genetics 2016 Dec;170(12):3319-3322.
PMID: 27626616
DOI: 10.1002/ajmg.a.37950
Read abstract here.
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.
Syrbe S, Zhorov BS, Bertsche A, Bernhard MK, Hornemann F, Mütze U, Hoffmann J, Hörtnagel K, Kiess W, Hirsch FW, Lemke JR, Merkenschlager A.
Journal: Molecular Syndromology 2016 Sep;7(4):182-188.
PMID: 27781028
PMCID: PMC5073623
DOI: 10.1159/000447526
Read abstract here.
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad C, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S.
Journal: Neurology 2016 Sep 13;87(11):1140-51.
PMID: 27521439
DOI: 10.1212/WNL.0000000000003087
Read abstract here.
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.
Hörtnagel K, Krägeloh-Mann I, Bornemann A, Döcker M, Biskup S, Mayrhofer H, Battke F, du Bois G, Harzer K.
Journal: Journal of Inherited Metabolic Disease 2016 Nov;39(6):849-857.
PMID: 27473128
PMCID: PMC5065605
DOI: 10.1007/s10545-016-9961-x
Read abstract here.
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L.
Journal: Neurology 2016 Jul 12;87(2):186-91.
PMID: 27316240
PMCID: PMC4940069
DOI: 10.1212/WNL.0000000000002843
Read abstract here.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM.
Journal: Neurology 2016 Jul 5;87(1):77-85.
PMID: 27281533
PMCID: PMC4932231
DOI: 10.1212/WNL.0000000000002807
Read abstract here.
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.
Journal: Neurology 2016 Jun 7;86(23):2171-8.
PMID: 27164704
PMCID: PMC4898312
DOI: 10.1212/WNL.0000000000002740
Early-onset parkinsonism due to compound heterozygous POLG mutations.
Rempe T, Kuhlenbäumer G, Krüger S, Biskup S, Matschke J, Hagel C, Deuschl G, van Eimeren T.
Journal: Parkinsonism & Related Disorders 2016 Aug;29:135-7.
PMID: 27185166
DOI: 10.1016/j.parkreldis.2016.04.020
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Wechuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C.
Journal: Journal of Medical Genetics 2016 Aug;53(8):511-22.
PMID: 26989088
DOI: 10.1136/jmedgenet-2015-103451
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.
Fradin M, Colin E, Hannouche-Bared D, Audo I, Sahel JA, Biskup S, Carré W, Ziegler A, Wilhelm C, Guichet A, Odent S, Bonneau D.
Journal: Ophthalmic Genetics 2016 Sep;37(3):357-9.
PMID: 26901671
DOI: 10.3109/13816810.2015.1087578
Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.
Wilke C, Pomper JK, Biskup S, Puskás C, Berg D, Synofzik M.
Journal: Journal of Neurology 2016 Mar;263(3):558-74.
PMID: 26810719
DOI: 10.1007/s00415-016-8021-7
Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease.
Wilke C, Gillardon F, Deuschle C, Dubois E, Hobert MA, Vom Hagen JM, Krüger S, Biskup S, Blauwendraat C, Hruscha M, Kaeser SA, Heutink P, Maetzler W, Synofzik M.
Journal: Current Alzheimer Research 2016;13(6):654-62.
PMID: 26971930
DOI: 10.2174/1567205013666160314151247
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron S, Dibbens L, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG.
Journal: Annals of Neurology 2016 Mar;79(3):428-36.
PMID: 26677014
DOI: 10.1002/ana.24580
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UB.
Journal: Journal of Neurology 2016 Feb;263(2):334-343.
PMID: 26645390
DOI: 10.1007/s00415-015-7984-0
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T.
Journal: American Journal of Human Genetics 2015 Dec 3;97(6):894-903.
PMID: 26637979
PMCID: PMC4678430
DOI: 10.1016/j.ajhg.2015.11.003
GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?
Pilotto A, Schulte C, Hauser AK, Biskup S, Munz M, Brockmann K, Schaeffer E, Synofzik M, Maetzler W, Suenkel U, Srulijes K, Gasser T, Berg D.
Journal: European Journal of Neurology 2016 Mar;23(3):520-6.
PMID: 26549049
DOI: 10.1111/ene.12894
Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations.
Peveling-Oberhag J, Wolters F, Döring C, Walter D, Sellmann L, Scholtysik R, Lucioni M, Schubach M, Paulli M, Biskup S, Zeuzem S, Küppers R, Hansmann ML.
Journal: BMC Cancer 2015 Oct 24;15:773.
PMID: 26498442
PMCID: PMC4619476
DOI: 10.1186/s12885-015-1766-z
Variability in hepatic expression of organic anion transporter 7/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors.
Emami Riedmaier A, Burk O, van Eijck BA, Schaeffeler E, Klein K, Fehr S, Biskup S, Müller S, Winter S, Zanger UM, Schwab M, Nies AT.
Journal: The Pharmacogenomics Journal 2016 Aug;16(4):341-51.
PMID: 26239079
DOI: 10.1038/tpj.2015.55
SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.
von Stülpnagel C, Funke C, Haberl C, Hörtnagel K, Jüngling J, Weber YG, Staudt M, Kluger G.
Journal: Neuropediatrics 2015 Aug;46(4):287-91.
PMID: 26110312
DOI: 10.1055/s-0035-1554098
Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S.
Journal: European Journal of Human Genetics 2016 Apr;24(4):556-61.
PMID: 26153216
PMCID: PMC4929870
DOI: 10.1038/ejhg.2015.151
Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.
Meyer-Ohlendorf M, Braczynski A, Al-Qaisi O, Gessler F, Biskup S, Weise L, Steinbach JP, Wagner M, Mittelbronn M, Bähr O.
Journal: BMC Neurology 2015 Jul 4;15:103.
PMID: 26141177
PMCID: PMC4491230
DOI: 10.1186/s12883-015-0368-3
Clinical variability in ataxia-telangiectasia.
Lohmann E, Krüger S, Hauser AK, Hanagasi H, Guven G, Erginel-Unaltuna N, Biskup S, Gasser T.
Journal: Journal of Neurology 2015 Jul;262(7):1724-7.
PMID: 25957637
DOI: 10.1007/s00415-015-7762-z
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K.
Journal: Orphanet Journal of Rare Diseases 2015 Apr 12;10:44.
PMID: 25886057
PMCID: PMC4449965
DOI: 10.1186/s13023-015-0256-3
Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.
Stendel C, Gallenmüller C, Peters K, Bürger F, Gramer G, Biskup S, Klopstock T.
Journal: Journal of Neurology 2015;262(4):1072-3.
PMID: 25860343
DOI: 10.1007/s00415-015-7729-0
No Dopamine Cell Loss or Changes in Cytoskeleton Function in Transgenic Mice Expressing Physiological Levels of Wild Type or G2019S Mutant LRRK2 and in Human Fibroblasts.
Garcia-Miralles M, Coomaraswamy J, Häbig K, Herzig MC, Funk N, Gillardon F, Maisel M, Jucker M, Gasser T, Galter D, Biskup S.
Journal: PLoS One 2015 Apr 1;10(4):e0118947.
PMID: 25830304
PMCID: PMC4382199
DOI: 10.1371/journal.pone.0118947
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.
Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, Kurlemann G, Fiedler B, Biskup S, Hörtnagel K, Rust S, Marquardt T.
Journal: Journal of Inherited Metabolic Disease 2015 Sep;38(5):931-40.
PMID: 25778940
DOI: 10.1007/s10545-015-9828-6
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.
Journal: Nature Genetics 2015 Apr;47(4):393-399.
PMID: 25751627
PMCID: PMC4380508
DOI: 10.1038/ng.3239
From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1.
Kettwig M, Schubach M, Zimmermann FA, Klinge L, Mayr JA, Biskup S, Sperl W, Gärtner J, Huppke P.
Journal: Mitochondrion 2015 Mar;21:12-8.
PMID: 25583628
DOI: 10.1016/j.mito.2015.01.001
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
Kurzwelly D, Krüger S, Biskup S, Heneka MT.
Journal: Brain 2015 Sep;138(Pt 9):e376.
PMID: 25681414
DOI: 10.1093/brain/awv014
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype.
Santos-Silva R, Passas A, Rocha C, Figueiredo R, Mendes-Ribeiro J, Fernandes S, Biskup S, Leão M.
Journal: Neuropediatrics 2015 Apr;46(2):134-8.
PMID: 25642806
DOI: 10.1055/s-0034-1399754
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
D’Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T.
Journal: Frontiers in Physiology 2015 Jan 15;5:525.
PMID: 25642194
PMCID: PMC4295438
DOI: 10.3389/fphys.2014.00525
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
Kuhm C, Gallenmüller C, Dörk T, Menzel M, Biskup S, Klopstock T.
Journal: Journal of Neurology 2015 Mar;262(3):768-70.
PMID: 25572163
DOI: 10.1007/s00415-015-7636-4
The phenotypic spectrum of SCN8A encephalopathy.
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; On behalf of the EuroEPINOMICS RES Consortium CRP.
Journal: Neurology 2015 Feb 3;84(5):480-9.
PMID: 25568300
PMCID: PMC4336074
DOI: 10.1212/WNL.0000000000001211
Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.
Gadzicki D, Döcker D, Schubach M, Menzel M, Schmorl B, Stellmer F, Biskup S, Bartholdi D.
Journal: Clinical Genetics 2015 Sep;88(3):300-2.
PMID: 25522177
DOI: 10.1111/cge.12544
Nucleic Acids as Molecular Diagnostics, Chapter 12: Genome, Exome, and Gene Panel Sequencing in a Clinical Setting.
Keller A, Meese E, Durand C, Biskup S.
Journal: Wiley-VCH Verlag GmbH & Co KGaA.
Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.
Pera J, Lechner S, Biskup S, Strach M, Grodzicki T, Slowik A.
Journal: Clinical Neurology and Neurosurgery 2015 Jan;128:44-6.
PMID: 25462094
DOI: 10.1016/j.clineuro.2014.10.024
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H.
Journal: Nature Genetics 2014 Dec;46(12):1327-32.
PMID: 25362483
DOI: 10.1038/ng.3130
Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
Bender B, Klose U, Lindig T, Biskup S, Nägele T, Schöls L, Karle KN.
Journal: Journal of Neurology 2014 Dec;261(12):2351-9.
PMID: 25239393
DOI: 10.1007/s00415-014-7509-2
Severe familial paroxysmal exercise-induced dyskinesia.
Tacik P, Loens S, Schrader C, Gayde-Stephan S, Biskup S, Dressler D.
Journal: Journal of Neurology 2014 Oct;261(10):2009-15.
PMID: 25239393
DOI: 10.1007/s00415-014-7441-5
Behavioral Deficits and Striatal DA Signaling in LRRK2 p.G2019S Transgenic Rats: A Multimodal Investigation Including PET Neuroimaging.
Walker MD, Volta M, Cataldi S, Dinelle K, Beccano-Kelly D, Munsie L, Kornelsen R, Mah C, Chou P, Co K, Khinda J, Mroczek M, Bergeron S, Yu K, Cao LP, Funk N, Ott T, Galter D, Riess O, Biskup S, Milnerwood AJ, Stoessl AJ, Farrer MJ, Sossi V.
Journal: Journal of Parkinson’s Disease 2014;4(3):483-98.
PMID: 25000966
DOI: 10.3233/JPD-140344
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) – pure coincidence?
Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S.
Journal: European Journal of Human Genetics 2015 Mar;23(3):409-12.
PMID: 24939587
PMCID: PMC4326712
DOI: 10.1038/ejhg.2014.118
MED12 overexpression is a frequent event in castration-resistant prostate cancer.
Shaikhibrahim Z, Offermann A, Braun M, Menon R, Syring I, Nowak M, Halbach R, Vogel W, Ruiz C, Zellweger T, Rentsch C, Svensson M, Andren O, Bubendorf L, Biskup S, Duensing S, Kirfel J, Perner S.
Journal: Endocrine-Related Cancer 2014 Aug;21(4):663-75.
PMID: 24938407
DOI: 10.1530/ERC-14-0171
Diffuse leukoencephalopathy with spheroids: Biopsy findings and a novel mutation.
Levin J, Tiedt S, Arzberger T, Biskup S, Schuberth M, Stenglein-Krapf G, Kreth FW, Högen T, la Fougère C, Linn J, van der Knaap MS, Giese A, Kretzschmar HA, Danek A.
Journal: Clinical Neurology and Neurosurgery 2014 Jul;122:113-5.
PMID: 24908228
DOI: 10.1016/j.clineuro.2014.04.022
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.
Engeholm M, Sekler J, Schöndorf DC, Arora V, Schittenhelm J, Biskup S, Schell C, Gasser T.
Journal: BMC Neurology 2014 Jun 3;14:118.
PMID: 24894446
DOI: 10.1186/1471-2377-14-118
Unusual variability of PRRT2 linked phenotypes within a family.
Brueckner F, Kohl B, Puest B, Gassner S, Osseforth J, Lindenau M, Stodieck S, Biskup S, Lohmann E.
Journal: European Journal of Paediatrics Neurology 2014 Jul;18(4):540-2.
PMID: 24755245
DOI: 10.1016/j.ejpn.2014.03.012
[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment.]
Schuberth M, Levin J, Sawalhe D, Schwarzkopf R, von Baumgarten L, Ertl-Wagner B, Rominger A, Arzberger T, Kretzschmar HA, Froböse T, Diehl-Schmid J, Biskup S, Danek A.
Journal: Der Nervenarzt 2014 Apr;85(4):465-70.
PMID: 24706185
DOI: 10.1007/s00115-014-4052-4
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, Dechene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzy Ski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, Macarthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, Deluca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovre I L, Palanda I A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.
Journal: Genome Biology 2014 Mar 25;15(3):R53.
PMID: 24667040
PMCID: PMC4073084
DOI: 10.1186/gb-2014-15-3-r53
Analysis of the intestinal microbiota using SOLiD 16S rRNA gene sequencing and SOLiD shotgun sequencing.
Mitra S, Förster-Fromme K, Damms-Machado A, Scheurenbrand T, Biskup S, Huson DH, Bischoff SC.
Journal: BMC Genomics 2013;14 Suppl 5(Suppl 5):S16.
PMID: 24564472
PMCID: PMC3852202
DOI: 10.1186/1471-2164-14-S5-S16
MED15, encoding a subunit of the mediator complex, is overexpressed at high frequency in castration-resistant prostate cancer.
Shaikhibrahim Z, Menon R, Braun M, Offermann A, Queisser A, Boehm D, Vogel W, Rüenauver K, Ruiz C, Zellweger T, Svensson M, Andren O, Kristiansen G, Wernert N, Bubendorf L, Kirfel J, Biskup S, Perner S.
Journal: International Journal of Cancer 2014 Jul 1;135(1):19-26.
PMID: 24374838
DOI: 10.1002/ijc.28647
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease.
Synofzik M, Born C, Rominger A, Lummel N, Schöls L, Biskup S, Schüle C, Grasshoff U, Klopstock T, Adamczyk C.
Journal: Neurobiology of Aging 2014 May;35(5):1212.e1-5.
PMID: 24300238
DOI: 10.1016/j.neurobiolaging.2013.10.092
Multiple metachronous osteosarcomas in a patient with Li-Fraumeni syndrome.
Zils K, Wirth T, Loff S, Biskup S, von Kalle T, Bielack S.
Journal: Pediatric Hematology and Oncology 2014 May;31(4):359-61.
PMID: 24274641
DOI: 10.3109/08880018.2013.848388
Functional interaction of Parkinson’s disease-associated LRRK2 with members of the dynamin GTPase superfamily.
Stafa K, Tsika E, Moser R, Musso A, Glauser L, Jones A, Biskup S, Xiong Y, Bandopadhyay R, Dawson VL, Dawson TM, Moore DJ.
Journal: Human Molecular Genetics 2014 Apr 15;23(8):2055-77.
PMID: 24282027
PMCID: PMC3959816
DOI: 10.1093/hmg/ddt600
Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?
Ganos C, Biskup S, Krüger S, Meyer-Osores A, Hodecker S, Hagel C, Schöls L, Bhatia KP, Münchau A.
Journal: Parkinsonism & Related Disorders 2014 Mar;20(3):328-31.
PMID: 24359844
DOI: 10.1016/j.parkreldis.2013.11.011
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.
Mallaret M, Lagha-Boukbiza O, Biskup S, Namer IJ, Rudolf G, Anheim M, Tranchant C.
Journal: Journal of Neurology 2014 Feb;261(2):435-7.
PMID: 24366652
DOI: 10.1007/s00415-013-7216-4
A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.
Law BM, Spain VA, Leinster VH, Chia R, Beilina A, Cho HJ, Taymans JM, Urban MK, Sancho RM, Ramírez MB, Biskup S, Baekelandt V, Cai H, Cookson MR, Berwick DC, Harvey K.
Journal: The Journal of Biological Chemistry 2014 Jan 10;289(2):895-908.
PMID: 24275654
PMCID: PMC3887213
DOI: 10.1074/jbc.M113.507913
Monogenic human skin disorders.
Lemke JR, Kernland-Lang K, Hörtnagel K, Itin P.
Journal: Dermatology 2014;229(2):55-64.
PMID: 25012694
DOI: 10.1159/000362200
Further delineation of the SATB2 phenotype.
Döcker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, Bartholdi D.
Journal: European Journal of Human Genetics 2014 Aug;22(8):1034-9.
PMID: 24301056
PMCID: PMC4350596
DOI: 10.1038/ejhg.2013.280
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy.
Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, Jonghe PD, Biskup S, Weckhuysen S.
Journal: Annals of Neurology 2014 Jan;75(1):147-54.
PMID: 24272827
PMCID: PMC4223934
DOI: 10.1002/ana.24073
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene.
Faletra F, D’Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P.
Journal: American Journal of Medical Genetics Part A 2014 Jan;164A(1):42-7.
PMID: 24273071
DOI: 10.1002/ajmg.a.36165
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L.
Journal: Neurology 2013 Dec 3;81(23):2039-44.
PMID: 24198292
DOI: 10.1212/01.wnl.0000436945.01023.ac
Somatic copy number alterations by whole exome sequencing implicates YWHAZ and PTK2 in castration-resistant prostate cancer.
Menon R, Deng M, Rüenauver K, Queisser A, Offermann A, Boehm D, Vogel W, Scheble V, Fend F, Kristiansen G, Wernert N, Oberbeckmann N, Biskup S, Rubin MA, Shaikhibrahim Z, Perner S.
Journal: The Journal of Pathology 2013 Dec;231(4):505-16.
PMID: 24114522
DOI: 10.1002/path.4274
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, López RG, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S.
Journal: Nature Genetics 2013 Sep;45(9):1067-72.
PMID: 23933819
DOI: 10.1038/ng.2728
Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1.
Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I.
Journal: Gene 2013 May 15;520(2):194-7.
PMID: 23473829
DOI: 10.1016/j.gene.2013.02.031
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J.
Journal: European Journal of Human Genetics 2014 Jan;22(1):99-104.
PMID: 23591405
PMCID: PMC3865404
DOI: 10.1038/ejhg.2013.72
Handbook of Research on ICTs and Management Systems for Improving Efficiency in Healthcare and Social Care (2 Volumes). Chapter 47: ICT Aspects of Next-Generation-Sequencing Applied to Molecular Diagnostics.
Biskup S.
Journal: Handbook of Research on ICTs and Management Systems for Improving Efficiency in Healthcare and Social Care (2 Volumes) 2013 Apr.
DOI: 10.4018/978-1-4666-3990-4.ch047
Progressive ataxia associated with scarring skin lesions and vertical gaze palsy.
Ganos C, Biskup S, Kleinmichel S, Zittel S, Schunke O, Gerloff C, Münchau A.
Journal: Movement Disorders 2013 Apr;28(4):443-5.
PMID: 23568845
DOI: 10.1002/mds.25363
Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy.
Sampaio M, Rocha R, Biskup S, Leão M.
Journal: Journal of Child Neurology 2015 Apr;30(5):622-4.
PMID: 23533165
DOI: 10.1177/0883073813479169
Niemann-pick type c is frequent in adult ataxia with cognitive decline and vertical gaze palsy.
Schicks J, Müller Vom Hagen J, Bauer P, Beck-Wödl S, Biskup S, Krägeloh-Mann I, Schöls L, Synofzik M.
Journal: Neurology 2013 Mar 19;80(12):1169-70.
PMID: 23427322
DOI: 10.1212/WNL.0b013e31828869f9
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, Macleod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L.
Journal: Orphanet Journal of Rare Diseases 2013 Mar 15;8:41.
PMID: 23497566
PMCID: PMC3610264
DOI: 10.1186/1750-1172-8-41
Characterization of peripheral hematopoietic stem cells and monocytes in Parkinson’s disease.
Funk N, Wieghofer P, Grimm S, Schaefer R, Bühring HJ, Gasser T, Biskup S.
Journal: Movement Disorders 2013 Mar;28(3):392-5.
PMID: 23401086
DOI: 10.1002/mds.25300
[Genetic Diagnostic Testing in Inherited Retinal Dystrophies].
Kohl S, Biskup S.
Journal: Klinische Monatsblätter für Augenheilkunde 2013 Mar;230(3):243-6.
PMID: 23208805
DOI: 10.1055/s-0032-1327929
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.
Synofzik M, Maetzler W, Grehl T, Prudlo J, Vom Hagen JM, Haack T, Rebassoo P, Munz M, Schöls L, Biskup S.
Journal: Neurobiology of Aging 2012 Dec;33(12):2949.e13-7.
PMID: 22892309
DOI: 10.1016/j.neurobiolaging.2012.07.002
DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
Winter P, Kamm C, Biskup S, Köhler A, Leube B, Auburger G, Gasser T, Benecke R, Müller U.
Journal: Movement Disorders 2012 Dec;27(14):1819-21.
PMID: 23115116
DOI: 10.1002/mds.25219
Suicide attempt as the presenting symptom of c9orf72 dementia.
Synofzik M, Biskup S, Leyhe T, Reimold M, Fallgatter AJ, Metzger F.
Journal: The American Journal of Psychiatry 2012 Nov;169(11):1211-3.
PMID: 23128926
DOI: 10.1176/appi.ajp.2012.12060733
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S.
Journal: Epilepsia 2012 Aug;53(8):1387-98.
PMID: 22612257
DOI: 10.1111/j.1528-1167.2012.03516.x
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.
Synofzik M, Ronchi D, Keskin I, Basak AN, Wilhelm C, Gobbi C, Birve A, Biskup S, Zecca C, Fernández-Santiago R, Kaugesaar T, Schöls L, Marklund SL, Andersen PM.
Journal: Human Molecular Genetics 2012 Aug 15;21(16):3568-74.
PMID: 22595972
DOI: 10.1093/hmg/dds188
Genetic testing in neurological diseases.
Biskup S, Gasser T.
Journal: Journal of Neurology 2012 Jun;259(6):1249-54.
PMID: 22619054
DOI: 10.1007/s00415-012-6511-9
Neurodegenerative phenotypes in an A53T α-synuclein transgenic mouse model are independent of LRRK2.
Daher JP, Pletnikova O, Biskup S, Musso A, Gellhaar S, Galter D, Troncoso JC, Lee MK, Dawson TM, Dawson VL, Moore DJ.
Journal: Human Molecular Genetics 2012 Jun 1;21(11):2420-31.
PMID: 22357653
PMCID: PMC3349422
DOI: 10.1093/hmg/dds057
D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS.
Synofzik M, Hagen JM, Biskup S, Schöls L.
Journal: Amyotrophic Lateral Sclerosis 2012 May;13(3):326-7.
PMID: 22409356
DOI: 10.3109/17482968.2012.656312
Exome Enrichment and SOLiD Sequencing of Formalin Fixed Paraffin Embedded (FFPE) Prostate Cancer Tissue.
Menon R, Deng M, Boehm D, Braun M, Fend F, Boehm D, Biskup S, Perner S.
Journal: International Journal of Molecular Sciences 2012;13(7):8933-42.
PMID: 22942743
PMCID: PMC3430274
DOI: 10.3390/ijms13078933
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schöls L.
Journal: Journal of Medical Genetics 2011 Oct;48(10):713-5.
PMID: 21749991
DOI: 10.1136/jmg.2011.090282
Hochdurchsatz-Sequenzierung in der Humangenetischen Diagnostik / Next-generation sequencing in genetic diagnostics.
Biskup S.
Journal: Journal of Laboratory Medicine 2010 Nov, Band 34, Nr. 6, 305-309.
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H.
Journal: Nature Genetics 2010 Dec;42(12):1131-4.
PMID: 21057504
DOI: 10.1038/ng.706
ARHGEF7 (BETA-PIX) Acts as Guanine Nucleotide Exchange Factor for Leucine-Rich Repeat Kinase 2.
Haebig K, Gloeckner CJ, Miralles MG, Gillardon F, Schulte C, Riess O, Ueffing M, Biskup S, Bonin M.
Journal: PLoS One 2010 Oct 29;5(10):e13762.
PMID: 21048939
PMCID: PMC2966438
DOI: 10.1371/journal.pone.0013762