Tech Notes & Publications

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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsy.

Langenbruch L, Biskup S, Young P, Dräger B, Möddel G.

Journal: Epileptic Disorders 2020 Feb 1;22(1):116-119.
PMID: 32031532

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Catarino CB, Vollmar C, Küpper C, Seelos K, Gallenmüller C, Bartkiewicz J, Biskup S, Hörtnagel K, Klopstock T.

Journal: Journal of Neurology 2018 Feb;265(2):388-393.
PMID: 29260356

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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