Prof. Dr. Bernd Wollnik

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  • 2023 | Preprint
    ​ ​Busley AV, Gutiérrez-Gutiérrez Ó, Hammer E, Steinegger M, Böhmer L, Schroeder H, et al. ​LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome​. ​​2023. Available from: https://mbexc.uni-goettingen.de/literature/publications/646 https://sfb1002.med.uni-goettingen.de/production/literature/publications/465 doi: https://doi.org/10.1101/2023.01.10.523203​
    ​Details  DOI 
  • 2022 | Journal Article | 
    ​ ​Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber, Marie-Kristin, Wilken B, Funke R, et al. ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​. ​​Frontiers in Cell and Developmental Biology. ​2022;​10​. ​doi:10.3389/fcell.2022.1025332. 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Bögershausen N, Krawczyk HE, Jamra RA, Lin S, Yigit G, Hüning I, et al. ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​. ​​Human Mutation. ​2022;​43​(10):​​1454​-1471​. ​doi:10.1002/humu.24430. 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Versemann L, Patil S, Steuber B, Zhang Z, Kopp W, Krawczyk HE, et al. ​TP53-Status-Dependent Oncogenic EZH2 Activity in Pancreatic Cancer​. ​​Cancers. ​2022;​14​(14). ​doi:10.3390/cancers14143451. 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, et al. ​Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures​. ​​Human Molecular Genetics. ​2022;. ​doi:10.1093/hmg/ddab373. 
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  • 2022 | Journal Article
    ​ ​Karakilic‐Ozturan E, Altunoglu U, Ozturk AP, Kardelen Al AD, Yavas Abali Z, Avci S, et al. ​Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome​. ​​American Journal of Medical Genetics. Part A. ​2022;. ​doi:10.1002/ajmg.a.62742. 
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  • 2022 | Preprint
    ​ ​Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, et al. ​Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita​. ​​2022. Available from: https://mbexc.uni-goettingen.de/literature/publications/607 doi: https://doi.org/10.21203/rs.3.rs-2121654/v1​
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, et al. ​A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease​. ​​Scientific Reports. ​2022;​12​(1). ​doi:10.1038/s41598-022-07874-1. 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, et al. ​Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome​. ​​Clinical Genetics. ​2022;​101​(5-6):​​559​-564​. ​doi:10.1111/cge.14125. 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Schmidt J, Bremmer F, Brockmann K, Kaulfuß S, Wollnik B. ​Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome​. ​​Clinical Genetics. ​2022;​102​(3):​​239​-241​. ​doi:10.1111/cge.14174. 
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  • 2021 | Preprint
    ​ ​Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, et al. ​Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures​. ​​2021. Available from: https://mbexc.uni-goettingen.de/literature/publications/430 doi: https://doi.org/10.1101/2021.10.01.462717​
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  • 2021 | Journal Article
    ​ ​Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, et al. ​Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study​. ​​American Journal of Medical Genetics Part A. ​2021;​185​(4):​​1216​-1221​. ​doi:10.1002/ajmg.a.62070. 
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  • 2021 | Preprint
    ​ ​Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, et al. ​A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease​. ​​2021. Available from: https://mbexc.uni-goettingen.de/literature/publications/356 https://sfb1002.med.uni-goettingen.de/production/literature/publications/409 doi: https://doi.org/10.21203/rs.3.rs-957427/v1​
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  • 2021 | Journal Article | Research Paper
    ​ ​Moosa S, Chentli F, Altmüller J, Bögershausen N, Nürnberg P, Yigit G, et al. ​Genomic basis of syndromic short stature in an Algerian patient cohort​. ​​American Journal of Medical Genetics Part A. ​2021;. ​doi:10.1002/ajmg.a.62532. 
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  • 2021 | Journal Article | Overview
    ​ ​Yigit G, Wollnik B. ​Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy​. ​​Medizinische Genetik. ​2021;​33​(3):​​235​-243​. ​doi:10.1515/medgen-2021-2094. 
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  • 2021 | Journal Article | 
    ​ ​Wade EM, Parthasarathy P, Mi J, Morgan T, Wollnik B, Robertson SP, et al. ​Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia​. ​​European Journal of Human Genetics. ​2021;. ​doi:10.1038/s41431-021-00902-0. 
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  • 2020 | Journal Article
    ​ ​Neuhofer CM, Funke R, Wilken B, Knaus A, Altmüller J, Nürnberg P, et al. ​A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia​. ​​Molecular Syndromology. ​2020;​11​(1):​​30​-37​. ​doi:10.1159/000505797. 
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  • 2020 | Journal Article
    ​ ​Stromiedel H, Van Quekelberghe C, Yigit G, Naimi AA, Bahlmann F, Sader R, et al. ​Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS)​. ​​Zeitschrift für Geburtshilfe und Neonatologie. ​2020;​224​(06):​​377​-380​. ​doi:10.1055/a-1224-4465. 
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  • 2020 | Preprint
    ​ ​Kargapolova Y, Rehimi R, Kayserili H, Brühl J, Zirkel A, Li Y, et al. ​Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology​. ​​2020. Available from: https://mbexc.uni-goettingen.de/literature/publications/8 doi: https://doi.org/10.1101/2020.01.27.921171​
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  • 2020 | Journal Article
    ​ ​Bork K, Zibat A, Ferrari DM, Wollnik B, Schön MP, Wulff K, et al. ​Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes​. ​​Journal der Deutschen Dermatologischen Gesellschaft. ​2020;​18​(3):​​215​-223​. ​doi:10.1111/ddg.14036. 
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  • 2020 | Journal Article | Research Paper
    ​ ​Schnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker M. ​Aplasia cutis congenita in a CDC42 ‐ related developmental phenotype​. ​​American Journal of Medical Genetics Part A. ​2020;​185​(3):​​850​-855​. ​doi:10.1002/ajmg.a.62009. 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, et al. ​A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome​. ​​European Journal of Human Genetics. ​2020;​28​(10):​​1422​-1431​. ​doi:10.1038/s41431-020-0654-4. 
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  • 2020 | Journal Article | Research Paper
    ​ ​Hanses U, Kleinsorge M, Roos L, Yigit G, Li Y, Barbarics B, et al. ​Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​. ​​Circulation. ​2020;​142​(11):​​1059​-1076​. ​doi:10.1161/CIRCULATIONAHA.119.044794. 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, et al. ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​. ​​Genetics in Medicine. ​2020;​23​(2):​​341​-351​. ​doi:10.1038/s41436-020-00979-w. 
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  • 2020 | Journal Article | Overview | 
    ​ ​Schnabel F, Kornak U, Wollnik B. ​Premature aging disorders: A clinical and genetic compendium​. ​​Clinical Genetics. ​2020;​99​(1):​​3​-28​. ​doi:10.1111/cge.13837. 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, et al. ​De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome​. ​​Human Genetics. ​2020;​139​(11):​​1363​-1379​. ​doi:10.1007/s00439-020-02175-x. 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, Wit MY, et al. ​Human RAD50 deficiency: Confirmation of a distinctive phenotype​. ​​American Journal of Medical Genetics Part A. ​2020;​182​(6):​​1378​-1386​. ​doi:10.1002/ajmg.a.61570. 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, et al. ​Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​. ​​Human Genetics. ​2020;​139​(11):​​1443​-1454​. ​doi:10.1007/s00439-020-02188-6. 
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  • 2019 | Journal Article | Research Paper
    ​ ​Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, et al. ​Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​. ​​The American Journal of Human Genetics. ​2019;​105​(4):​​836​-843​. ​doi:10.1016/j.ajhg.2019.08.008. 
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  • 2019 | Journal Article
    ​ ​Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, et al. ​Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​. ​​Journal of Medical Genetics. ​2019;​56​(4):​​261​-264​. ​doi:10.1136/jmedgenet-2018-105470. 
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  • 2019 | Journal Article | 
    ​ ​Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, et al. ​Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly​. ​​Nature Communications. ​2019;​10​(1). ​doi:10.1038/s41467-019-08547-w. 
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  • 2019 | Journal Article | 
    ​ ​Nagy V, Hollstein R, Pai, Tsung-Pin, Herde MK, Buphamalai P, Moeseneder P, et al. ​HACE1 deficiency leads to structural and functional neurodevelopmental defects​. ​​Neurology Genetics. ​2019;​5​(3):​​e330​. ​doi:10.1212/NXG.0000000000000330. 
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  • 2019 | Journal Article | 
    ​ ​Kalasova I, Hanzlikova H, Gupta N, Li Y, Altmüller J, Reynolds JJ, et al. ​Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ​. ​​Neurology Genetics. ​2019;​5​(2):​​e320​. ​doi:10.1212/NXG.0000000000000320. 
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  • 2019 | Journal Article | 
    ​ ​Hsieh, Tzung-Chien, Mensah M, Pantel J, Aguilar D, Bar O, Bayat A, et al. ​PEDIA: prioritization of exome data by image analysis​. ​​Genetics in Medicine. ​2019;​21​(12):​​2807​-2814​. ​doi:10.1038/s41436-019-0566-2. 
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  • 2019 | Journal Article | Research Paper | 
    ​ ​Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, et al. ​The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype​. ​​Human Mutation. ​2019;​41​(3):​​591​-599​. ​doi:10.1002/humu.23964. 
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  • 2018 | Journal Article
    ​ ​Budisteanu M, Bögershausen N, Papuc S, Moosa S, Thoenes M, Riga D, et al. ​Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature​. ​​Balkan Journal of Medical Genetics. ​2018;​21​(1):​​83​-86​. ​doi:10.2478/bjmg-2018-0005. 
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  • 2018 | Journal Article
    ​ ​Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, et al. ​Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome​. ​​The American Journal of Human Genetics. ​2018;​102​(3):​​468​-479​. ​doi:10.1016/j.ajhg.2018.01.014. 
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  • 2018 | Journal Article
    ​ ​Czepluch FS, Wollnik B, Hasenfuß G. ​Genetic determinants of heart failure: facts and numbers​. ​​ESC Heart Failure. ​2018;​5​(3):​​211​-217​. ​doi:10.1002/ehf2.12267. 
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  • 2018 | Journal Article
    ​ ​Czepluch F, Hasenfuß G, Wollnik B. ​Moderne humangenetische Beratung: ​Praktische Aspekte am Beispiel der hypertrophen Kardiomyopathie​. ​​Der Internist. ​2018;​59​(8):​​790​-798​. ​doi:10.1007/s00108-018-0452-z. 
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  • 2018 | Journal Article | Research Paper | 
    ​ ​Martin, Carol-Anne, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, et al. ​Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​. ​​The American Journal of Human Genetics. ​2018;​103​(2):​​221​-231​. ​doi:10.1016/j.ajhg.2018.07.001. 
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  • 2018 | Journal Article | Research Paper
    ​ ​Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos C, Carrero D, et al. ​Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​. ​​Journal of Medical Genetics. ​2018;​55​(12):​​837​-846​. ​doi:10.1136/jmedgenet-2018-105528. 
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  • 2018 | Journal Article | 
    ​ ​Bögershausen N, Wollnik B. ​Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders​. ​​Frontiers in Molecular Neuroscience. ​2018;​11​. ​doi:10.3389/fnmol.2018.00252. 
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  • 2018 | Journal Article | Overview
    ​ ​Schmidt J, Wollnik B. ​Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome​. ​​American Journal of Medical Genetics Part C: Seminars in Medical Genetics. ​2018;​178​(4):​​398​-406​. ​doi:10.1002/ajmg.c.31668. 
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  • 2017 | Journal Article
    ​ ​Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, et al. ​Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes​. ​​Human Genetics. ​2017;​136​(3):​​307​-320​. ​doi:10.1007/s00439-017-1758-y. 
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  • 2017 | Journal Article
    ​ ​Czepluch F, Wollnik B, Hasenfuß G. ​Genetische Diagnostik bei Kardiomyopathien​. ​​DMW - Deutsche Medizinische Wochenschrift. ​2017;​142​(09):​​657​-664​. ​doi:10.1055/s-0042-112183. 
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  • 2017 | Journal Article
    ​ ​Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, et al. ​Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation inIARS2​. ​​American Journal of Medical Genetics Part A. ​2017;​173​(4):​​1102​-1108​. ​doi:10.1002/ajmg.a.38116. 
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  • 2017 | Journal Article
    ​ ​Bramswig NC, Lüdecke, Hermann-Josef, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, et al. ​Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability​. ​​Human Genetics. ​2017;​136​(7):​​821​-834​. ​doi:10.1007/s00439-017-1795-6. 
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  • 2017 | Journal Article
    ​ ​Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, et al. ​Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome​. ​​Molecular Genetics & Genomic Medicine. ​2017;​5​(5):​​580​-584​. ​doi:10.1002/mgg3.287. 
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  • 2017 | Journal Article
    ​ ​Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, et al. ​New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy​. ​​Human Molecular Genetics. ​2017;​26​(15):​​2923​-2932​. ​doi:10.1093/hmg/ddx175. 
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  • 2017 | Journal Article
    ​ ​Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, et al. ​Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum​. ​​Clinical Genetics. ​2017;​92​(3):​​342​-343​. ​doi:10.1111/cge.12990. 
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  • 2017 | Journal Article
    ​ ​Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, et al. ​Wiedemann-Rautenstrauch syndrome: A phenotype analysis​. ​​American Journal of Medical Genetics Part A. ​2017;​173​(7):​​1763​-1772​. ​doi:10.1002/ajmg.a.38246. 
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  • 2017 | Journal Article | 
    ​ ​Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, et al. ​CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays​. ​​The American Journal of Human Genetics. ​2017;​101​(3):​​391​-403​. ​doi:10.1016/j.ajhg.2017.08.003. 
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  • 2017 | Journal Article | Research Paper
    ​ ​Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, et al. ​De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​. ​​The American Journal of Human Genetics. ​2017;​101​(5):​​833​-843​. ​doi:10.1016/j.ajhg.2017.09.016. 
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  • 2017 | Journal Article | Research Paper | 
    ​ ​Borchert T, Hübscher D, Guessoum CI, Lam, Tuan-Dinh D., Ghadri JR, Schellinger IN, et al. ​Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy​. ​​Journal of the American College of Cardiology. ​2017;​70​(8):​​975​-991​. ​doi:10.1016/j.jacc.2017.06.061. 
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  • 2017 | Journal Article
    ​ ​Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, et al. ​De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​. ​​Nature Genetics. ​2017;​49​(2):​​249​-255​. ​doi:10.1038/ng.3765. 
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  • 2016 | Journal Article | Research Paper | 
    ​ ​Bernhardt M, Priebe M, Osterhoff M, Wollnik B, Diaz A, Salditt T, et al. ​X-Ray Micro- and Nanodiffraction Imaging on Human Mesenchymal Stem Cells and Differentiated Cells​. ​​Biophysical Journal. ​2016;​110​(3):​​680​-690​. ​doi:10.1016/j.bpj.2015.12.017. 
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  • 2016 | Journal Article | Letter Note
    ​ ​Moosa S, Chung, B. H.-Y., Tung, J. Y.-L., Altmueller J, Thiele H, Nuernberg P, et al. ​Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta​. ​​Clinical Genetics. ​2016;​89​(4):​​517​-519​. ​doi:10.1111/cge.12678. 
    ​Details  DOI  WoS 
  • 2016 | Journal Article
    ​ ​Hatzold J, Beleggia F, Herzig H, Bloch W, Wollnik B, Hammerschmidt M. ​509 Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit​. ​​Journal of Investigative Dermatology. ​2016;​136​(9):​​S247​. ​doi:10.1016/j.jid.2016.06.531. 
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  • 2016 | Journal Article
    ​ ​Moosa S, Fano V, Obregon MG, Altmüller J, Thiele H, Nürnberg P, et al. ​Cover Image, Volume 170A, Number 9, September 2016​. ​​American Journal of Medical Genetics Part A. ​2016;​170​(9). ​doi:10.1002/ajmg.a.37884. 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, et al. ​Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism​. ​​American Journal of Medical Genetics Part A. ​2016;​173​(1):​​264​-267​. ​doi:10.1002/ajmg.a.37999. 
    ​Details  DOI 
  • 2016 | Journal Article | Letter Note
    ​ ​Moosa S, Fano V, Obregon MG, Altmüller J, Thiele H, Nürnberg P, et al. ​A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival​. ​​American Journal of Medical Genetics. ​2016;​170​(9):​​2436​-2439​. ​doi:10.1002/ajmg.a.37823. 
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  • 2016 | Journal Article | Research Paper
    ​ ​Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, et al. ​Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2​. ​​Human Mutation. ​2016;​37​(9):​​847​-864​. ​doi:10.1002/humu.23026. 
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  • 2016 | Journal Article | Research Paper
    ​ ​Moosa S, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Fano V, et al. ​Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum​. ​​American Journal of Medical Genetics. ​2016;​170​(5):​​1295​-1301​. ​doi:10.1002/ajmg.a.37570. 
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  • 2016 | Journal Article | Research Paper
    ​ ​Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, et al. ​TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism​. ​​Nature Genetics. ​2016;​48​(1):​​36​-+​. ​doi:10.1038/ng.3451. 
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  • 2016 | Journal Article | 
    ​ ​Hatzold J, Beleggia F, Herzig H, Altmüller J, Nürnberg P, Bloch W, et al. ​Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit​. ​​eLife. ​2016;​5​:​​1​-30​. ​doi:10.7554/eLife.14277. 
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  • 2016 | Journal Article | Research Paper
    ​ ​Altmüller J, Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, et al. ​A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product​. ​​Biological Chemistry. ​2016;​397​(8):​​791​-801​. ​doi:10.1515/hsz-2015-0300. 
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  • 2016 | Journal Article | Research Paper
    ​ ​Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, et al. ​Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis​. ​​Clinical Genetics. ​2016;​90​(4):​​334​-342​. ​doi:10.1111/cge.12775. 
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  • 2016 | Journal Article | Research Paper
    ​ ​Yigit G, Wieczorek D, Boegershausen N, Beleggia F, Moeller-Hartmann C, Altmüller J, et al. ​A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation​. ​​American Journal of Medical Genetics. ​2016;​170​(3):​​728​-733​. ​doi:10.1002/ajmg.a.37484. 
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  • 2016 | Journal Article
    ​ ​Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, et al. ​An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity​. ​​American Journal of Medical Genetics. ​2016;​170​(12):​​3282​-3288​. ​doi:10.1002/ajmg.a.37931. 
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  • 2016 | Review
    ​ ​Moosa S, Wollnik B. ​Altered FGF signalling in congenital craniofacial and skeletal disorders​ [book review]. ​​Seminars in Cell & Developmental Biology. ​2016;​53​:​​115​-125​. ​doi:10.1016/j.semcdb.2015.12.005. 
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  • 2015 | Journal Article
    ​ ​Yigit G, Rosin N, Wollnik B. ​Molecular basis of autosomal recessive primary microcephaly​. ​​Medizinische Genetik. ​2015;​27​(4):​​345​-350​. ​doi:10.1007/s11825-015-0068-9. 
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  • 2015 | Journal Article
    ​ ​Yigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, et al. ​Mutations in CDK5RAP2 cause Seckel syndrome​. ​​Molecular Genetics & Genomic Medicine. ​2015;​3​(5):​​467​-480​. ​doi:10.1002/mgg3.158. 
    ​Details  DOI 
  • 2015 | Journal Article | Letter Note
    ​ ​Kilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, et al. ​A Novel Mutation in RNU4ATAC in a Patient with Microcephalic Osteodysplastic Primordial Dwarfism Type I​. ​​American Journal of Medical Genetics. ​2015;​167​(4):​​919​-921​. ​doi:10.1002/ajmg.a.36955. 
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  • 2015 | Journal Article | Research Paper
    ​ ​Garbes L, Kim K, Riess A, Hoyer-Kuhn H, Beleggia F, Bevot A, et al. ​Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta​. ​​American journal of human genetics. ​2015;​96​(3):​​432​-439​. ​doi:10.1016/j.ajhg.2015.01.002. 
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  • 2015 | Journal Article | Research Paper
    ​ ​Rosin N, Elcioglu NH, Beleggia F, Isguven P, Altmüller J, Thiele H, et al. ​Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability​. ​​Human Molecular Genetics. ​2015;​24​(13):​​3708​-3717​. ​doi:10.1093/hmg/ddv115. 
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  • 2015 | Journal Article | Research Paper
    ​ ​Bramswig NC, Luedecke, Hermann-Josef, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, et al. ​Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes​. ​​Human Genetics. ​2015;​134​(6):​​553​-568​. ​doi:10.1007/s00439-015-1535-8. 
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  • 2015 | Journal Article | Research Paper
    ​ ​Beleggia F, Li Y, Fan J, Elcioglu NH, Toker E, Wieland T, et al. ​CRIM1 haploinsufficiency causes defects in eye development in human and mouse​. ​​Human Molecular Genetics. ​2015;​24​(8):​​2267​-2273​. ​doi:10.1093/hmg/ddu744. 
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  • 2015 | Journal Article | Research Paper
    ​ ​Boegershausen N, Tsai, I-Chun, Pohl E, Kiper POS, Beleggia F, Percin EF, et al. ​RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome​. ​​Journal of Clinical Investigation. ​2015;​125​(9):​​3585​-3599​. ​doi:10.1172/JCI80102. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | Research Paper
    ​ ​Hoyer-Kuhn H, Semler O, Garbes L, Zimmermann K, Becker J, Wollnik B, et al. ​A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset​. ​​Journal of Bone and Mineral Research. ​2014;​29​(6):​​1387​-1391​. ​doi:10.1002/jbmr.2156. 
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  • 2014 | Journal Article | Research Paper
    ​ ​Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara, Shin-ichi, et al. ​Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​. ​​American journal of human genetics. ​2014;​95​(5):​​622​-632​. ​doi:10.1016/j.ajhg.2014.10.008. 
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  • 2014 | Journal Article | Research Paper
    ​ ​Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, et al. ​Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency​. ​​Human Mutation. ​2014;​35​(1):​​76​-85​. ​doi:10.1002/humu.22461. 
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  • 2014 | Journal Article | Research Paper
    ​ ​Schulz Y, Freese L, Maenz J, Zoll B, Voelter C, Brockmann K, et al. ​CHARGE and Kabuki syndromes: a phenotypic and molecular link​. ​​Human Molecular Genetics. ​2014;​23​(16):​​4396​-4405​. ​doi:10.1093/hmg/ddu156. 
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  • 2013 | Journal Article
    ​ ​Beck B, Wollnik B, Kömhoff M. ​Ionenkanalerkrankungen der Niere und Nebenniere​. ​​Medizinische Genetik. ​2013;​25​(4):​​480​-485​. ​doi:10.1007/s11825-013-0423-7. 
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  • 2013 | Journal Article | Letter Note
    ​ ​Bögershausen N, Bruford E, Wollnik B. ​In relation to the article "Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases" by Bogerhausen et al. Response​. ​​Clinical Genetics. ​2013;​83​(3). ​doi:10.1111/cge.12099. 
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  • 2013 | Journal Article
    ​ ​Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, et al. ​Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis​. ​​Molecular Genetics & Genomic Medicine. ​2013;​1​(4):​​223​-237​. ​doi:10.1002/mgg3.28. 
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  • 2013 | Journal Article
    ​ ​Rachwalski M, Wollnik B, Kress W. ​Klinik und Genetik syndromaler und nichtsyndromaler Kraniosynostosen​. ​​Medizinische Genetik. ​2013;​25​(3):​​373​-387​. ​doi:10.1007/s11825-013-0412-x. 
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  • 2013 | Journal Article | Erratum | 
    ​ ​Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, et al. ​Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome​. ​​Human Genetics. ​2013;​132​(11):​​1321​-1321​. ​doi:10.1007/s00439-013-1341-0. 
    ​Details  DOI 
  • 2013 | Journal Article | Research Paper
    ​ ​Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, et al. ​CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​. ​​Human Molecular Genetics. ​2013;​22​(25):​​5199​-5214​. ​doi:10.1093/hmg/ddt374. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, et al. ​Mutations in WNT1 Cause Different Forms of Bone Fragility​. ​​American journal of human genetics. ​2013;​92​(4):​​565​-574​. ​doi:10.1016/j.ajhg.2013.02.010. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, et al. ​A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome​. ​​Human Genetics. ​2013;​132​(11):​​1311​-1320​. ​doi:10.1007/s00439-013-1337-9. 
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  • 2013 | Review
    ​ ​Bögershausen N, Wollnik B. ​Unmasking Kabuki syndrome​ [book review]. ​​Clinical Genetics. ​2013;​83​(3):​​201​-211​. ​doi:10.1111/cge.12051. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Reintjes N, Li Y, Becker A, Rohmann E, Schmutzler R, Wollnik B. ​Activating Somatic FGFR2 Mutations in Breast Cancer​. ​​PLoS ONE. ​2013;​8​(3). ​doi:10.1371/journal.pone.0060264. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, FitzPatrick D, et al. ​Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome​. ​​Human Genetics. ​2013;​132​(8):​​885​-898​. ​doi:10.1007/s00439-013-1295-2. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Boegershausen N, Shahrzad N, Chong JX, von Kleist-Retzow, Jürgen-Christoph, Stanga D, Li Y, et al. ​Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability​. ​​American journal of human genetics. ​2013;​93​(1):​​181​-190​. ​doi:10.1016/j.ajhg.2013.05.028. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, et al. ​Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies​. ​​PLoS ONE. ​2013;​8​(11). ​doi:10.1371/journal.pone.0078496. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Kariminejad A, Stollfuss B, Li Y, Boegershausen N, Boss K, Hennekam RCM, et al. ​Severe Cenani-Lenz Syndrome Caused by Loss of LRP4 Function​. ​​American Journal of Medical Genetics. ​2013;​161A​(6):​​1475​-1479​. ​doi:10.1002/ajmg.a.35920. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, et al. ​A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype​. ​​Journal of Medical Genetics. ​2013;​50​(12):​​838​-847​. ​doi:10.1136/jmedgenet-2013-101918. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Wieczorek D, Boegershausen N, Beleggia F, Steiner-Haldenstaett S, Pohl E, Li Y, et al. ​A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling​. ​​Human Molecular Genetics. ​2013;​22​(25):​​5121​-5135​. ​doi:10.1093/hmg/ddt366. 
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  • 2013 | Review
    ​ ​Bögershausen N, Bruford E, Wollnik B. ​Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases​ [book review]. ​​Clinical Genetics. ​2013;​83​(3):​​212​-214​. ​doi:10.1111/cge.12050. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Dimopoulou A, Fischer B, Gardeitchik T, Schroeter P, Kayserili H, Schlack C, et al. ​Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa​. ​​Molecular Genetics and Metabolism. ​2013;​110​(3):​​352​-361​. ​doi:10.1016/j.ymgme.2013.08.009. 
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  • 2012 | Journal Article | Research Paper
    ​ ​Cogulu O, Durmaz B, Wollnik B, Durmaz A, Darcan S, Ozkinay F. ​A NEW CLINICAL PRESENTATION ASSOCIATED WITH PONTINE CLEFTING, HYPERPIGMENTATION AND SHORT STATURE IN ADDITION TO CRANIOFACIAL, CARDIAC AND DEVELOPMENTAL ANOMALIES​. ​​Genetic Counseling. ​2012;​23​(2):​​281​-287​. ​
    ​Details  PMID  PMC  WoS 
  • 2012 | Journal Article
    ​ ​Yigit G, Wollnik B. ​Molekulare Mechanismen des Seckel-Syndroms​. ​​Medizinische Genetik. ​2012;​24​(4):​​284​-288​. ​doi:10.1007/s11825-012-0359-3. 
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  • 2012 | Journal Article | 
    ​ ​Wollnik B, Kornak U. ​Progeroide Erkrankungen und ihre Mechanismen​. ​​Medizinische Genetik. ​2012;​24​(4):​​253​-256​. ​doi:10.1007/s11825-012-0350-z. 
    ​Details  DOI 
  • 2012 | Journal Article | Research Paper
    ​ ​Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, et al. ​A Mutation in the 5 '-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus​. ​​American journal of human genetics. ​2012;​91​(2):​​349​-357​. ​doi:10.1016/j.ajhg.2012.06.011. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper | 
    ​ ​Yüksel Apak M, Boegershausen N, Pawlik B, Li Y, Apak S, Uyguner O, et al. ​A large duplication involving the IHH locus mimics acrocallosal syndrome​. ​​European Journal of Human Genetics. ​2012;​20​(6):​​639​-644​. ​doi:10.1038/ejhg.2011.250. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, et al. ​Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​. ​​American journal of human genetics. ​2012;​90​(4):​​661​-674​. ​doi:10.1016/j.ajhg.2012.02.026. 
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  • 2012 | Journal Article | Research Paper
    ​ ​von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, et al. ​A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss​. ​​American journal of human genetics. ​2012;​91​(5):​​919​-927​. ​doi:10.1016/j.ajhg.2012.09.002. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Laue K, Pogoda, Hans-Martin, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, et al. ​Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid​. ​​American journal of human genetics. ​2011;​89​(5):​​595​-606​. ​doi:10.1016/j.ajhg.2011.09.015. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Borck G, Wunram H, Steiert A, Volk AE, Koerber F, Roters S, et al. ​A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome​. ​​Human Genetics. ​2011;​129​(1):​​45​-50​. ​doi:10.1007/s00439-010-0896-2. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, et al. ​Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta​. ​​American journal of human genetics. ​2011;​88​(3):​​362​-371​. ​doi:10.1016/j.ajhg.2011.01.015. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, et al. ​CEP152 is a genome maintenance protein disrupted in Seckel syndrome​. ​​Nature Genetics. ​2011;​43​(1):​​23​-26​. ​doi:10.1038/ng.725. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Kayserili H, Wollnik B, Guven G, Emiroglu MU, Baserer N, Uyguner O. ​A Novel Homozygous COL11A2 Deletion Causes a C-Terminal Protein Truncation With Incomplete mRNA Decay in a Turkish Patient​. ​​American Journal of Medical Genetics. ​2011;​155A​(1):​​180​-185​. ​doi:10.1002/ajmg.a.33780. 
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  • 2011 | Journal Article | Research Paper
    ​ ​Borck G, Rehman AU, Lee K, Pogoda, Hans-Martin, Kakar N, von Ameln S, et al. ​Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42​. ​​American journal of human genetics. ​2011;​88​(2):​​127​-137​. ​doi:10.1016/j.ajhg.2010.12.011. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Li Y, Boegershausen N, Alanay Y, Kiper POS, Plume N, Keupp K, et al. ​A mutation screen in patients with Kabuki syndrome​. ​​Human Genetics. ​2011;​130​(6):​​715​-724​. ​doi:10.1007/s00439-011-1004-y. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Frenzel LP, Claus R, Plume N, Schwamb J, Konermann C, Pallasch CP, et al. ​Sustained NF-kappaB activity in chronic lymphocytic leukemia is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus​. ​​International Journal of Cancer. ​2011;​128​(10):​​2495​-2500​. ​doi:10.1002/ijc.25579. 
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  • 2010 | Journal Article
    ​ ​Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Li Y, Kayserili H, et al. ​Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance​. ​​Bone. ​2010;​47​:​​154​-155​. ​doi:10.1016/j.bone.2010.04.356. 
    ​Details  DOI 
  • 2010 | Journal Article
    ​ ​Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, et al. ​A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies​. ​​Molecular Syndromology. ​2010;​1​(1):​​27​-34​. ​doi:10.1159/000276763. 
    ​Details  DOI 
  • 2010 | Journal Article | Research Paper
    ​ ​Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, et al. ​Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling​. ​​American journal of human genetics. ​2010;​87​(6):​​757​-767​. ​doi:10.1016/j.ajhg.2010.10.003. 
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  • 2010 | Journal Article
    ​ ​Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, et al. ​Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia​. ​​American journal of human genetics. ​2010;​86​(5):​​789​-796​. ​doi:10.1016/j.ajhg.2010.04.002. 
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  • 2010 | Journal Article | Research Paper
    ​ ​Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJW, et al. ​A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal Thumb​. ​​Human Mutation. ​2010;​31​(1):​​81​-89​. ​doi:10.1002/humu.21142. 
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  • 2010 | Journal Article | Letter Note
    ​ ​Wollnik B. ​A common mechanism for microcephaly​. ​​Nature Genetics. ​2010;​42​(11):​​923​-924​. ​doi:10.1038/ng1110-923. 
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  • 2010 | Journal Article | Research Paper
    ​ ​Li Y, Pawlik B, Elcioglu NH, Aglan M, Kayserili H, Yigit G, et al. ​LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome​. ​​American journal of human genetics. ​2010;​86​(5):​​696​-706​. ​doi:10.1016/j.ajhg.2010.03.004. 
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  • 2010 | Journal Article | Research Paper
    ​ ​Karner CM, Dietrich M, Johnson EB, Kappesser N, Tennert C, Percin EF, et al. ​Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation - A Mouse Model for Cenani-Lenz Syndrome​. ​​PLoS ONE. ​2010;​5​(4). ​doi:10.1371/journal.pone.0010418. 
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  • 2010 | Journal Article | Letter Note
    ​ ​Li Y, Pabst S, Kubisch C, Grohe C, Wollnik B. ​First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis​. ​​Thorax. ​2010;​65​(10):​​939​-940​. ​doi:10.1136/thx.2010.138743. 
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  • 2009 | Journal Article | Research Paper
    ​ ​Elcioglu NH, Pawlik B, Colak B, Beck M, Wollnik B. ​A NOVEL LOSS-OF-FUNCTION MUTATION IN THE GNS GENE CAUSES SANFILIPPO SYNDROME TYPE D​. ​​Genetic Counseling. ​2009;​20​(2):​​133​-139​. ​
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  • 2009 | Conference Abstract
    ​ ​Unsoeld BW, Gunkel S, Vouffo J, Pfeiffer C, Kranz A, Lossnitzer D, et al. ​Recapitulation of a Right Ventricular Phenotype in a Transgenic Mouse Model Overexpressing the Plakophilin-2 R413x Mutation That Causes Severe ARVC in a Large Family​. ​ 82nd Scientific Session of the American-Heart-Association; ​Orlando, FL. ​Circulation. ​2009;​120​(18)
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  • 2009 | Journal Article
    ​ ​Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, et al. ​CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children​. ​​Journal of Clinical Research in Pediatric Endocrinology. ​2009;​1​(3):​​116​-128​. ​doi:10.4008/jcrpe.v1i3.49. 
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  • 2009 | Journal Article | Research Paper
    ​ ​Li Y, Pabst S, Lokhande S, Grohe C, Wollnik B. ​Extended genetic analysis of BTNL2 in sarcoidosis​. ​​Tissue Antigens. ​2009;​73​(1):​​59​-61​. ​doi:10.1111/j.1399-0039.2008.01180.x. 
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  • 2009 | Journal Article
    ​ ​Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, et al. ​ALX4 dysfunction disrupts craniofacial and epidermal development​. ​​Human Molecular Genetics. ​2009;​18​(22):​​4357​-4366​. ​doi:10.1093/hmg/ddp391. 
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  • 2009 | Journal Article | Research Paper
    ​ ​Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, et al. ​Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling​. ​​Human Mutation. ​2009;​30​(12):​​1667​-1675​. ​doi:10.1002/humu.21117. 
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  • 2009 | Journal Article | Research Paper
    ​ ​Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. ​Mutations in PYCR1 cause cutis laxa with progeroid features​. ​​Nature Genetics. ​2009;​41​(9):​​1016​-U88​. ​doi:10.1038/ng.413. 
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  • 2009 | Journal Article | Research Paper
    ​ ​Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, et al. ​A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families​. ​​Archives of Dermatological Research. ​2009;​301​(5):​​391​-393​. ​doi:10.1007/s00403-008-0903-9. 
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  • 2009 | Journal Article | Research Paper
    ​ ​Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, et al. ​Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings​. ​​Journal of Neurology. ​2009;​256​(3):​​416​-419​. ​doi:10.1007/s00415-009-0094-0. 
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  • 2009 | Journal Article | Research Paper
    ​ ​Chung, Boi-Dinh, Kayserili H, Ai M, Freudenberg J, Uezmcue A, Uyguner O, et al. ​A Mutation in the Signal Sequence of LRP5 in a Family With an Osteoporosis-Pseudoglioma Syndrome (OPPG)-Like Phenotype Indicates a Novel Disease Mechanism for Trinucleotide Repeats​. ​​Human Mutation. ​2009;​30​(4):​​641​-648​. ​doi:10.1002/humu.20916. 
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  • 2008 | Journal Article | Research Paper
    ​ ​Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, et al. ​Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene​. ​​British Journal of Ophthalmology. ​2008;​92​(1):​​135​-141​. ​doi:10.1136/bjo.2007.128157. 
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  • 2008 | Journal Article
    ​ ​Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, et al. ​Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations​. ​​Journal of Medical Genetics. ​2008;​45​(4):​​200​-209​. ​doi:10.1136/jmg.2007.053520. 
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  • 2008 | Journal Article | Research Paper
    ​ ​Pabst S, Wollnik B, Rohmann E, Hintz Y, Glaenzer K, Vetter H, et al. ​A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease​. ​​Clinical Research in Cardiology. ​2008;​97​(1):​​39​-42​. ​doi:10.1007/s00392-007-0574-0. 
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  • 2008 | Journal Article | Research Paper
    ​ ​Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, et al. ​Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11​. ​​Clinical Genetics. ​2008;​74​(3):​​223​-232​. ​doi:10.1111/j.1399-0004.2008.01053.x. 
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  • 2008 | Journal Article | Letter Note
    ​ ​Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, et al. ​A Novel Mutation in the Espin Gene Causes Autosomal Recessive Nonsyndromic Hearing Loss But No Apparent Vestibular Dysfunction in a Moroccan Family​. ​​American Journal of Medical Genetics. ​2008;​146A​(23):​​3086​-3089​. ​doi:10.1002/ajmg.a.32525. 
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  • 2008 | Journal Article | Research Paper
    ​ ​Collin RWJ, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, et al. ​Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35​. ​​American journal of human genetics. ​2008;​82​(1):​​125​-138​. ​doi:10.1016/j.ajhg.2007.09.008. 
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  • 2008 | Journal Article | Research Paper
    ​ ​Budde B, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, et al. ​tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia​. ​​Nature Genetics. ​2008;​40​(9):​​1113​-1118​. ​doi:10.1038/ng.204. 
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  • 2007 | Conference Abstract
    ​ ​Unsoeld BW, Pfeiffer C, Gunkel S, Noack C, Schmidt A, Lossnitzer D, et al. ​The nonsense-mutation R413X in the plakophilin-2 gene causes a severe inherited form of arrhythmogenic right ventricular cardiomyopathy (ARVC) in a large family​. ​​European Heart Journal. ​2007;​28​:32​-33​. ​
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  • 2007 | Journal Article | Research Paper
    ​ ​Boulouiz R, Li Y, Abidi O, Bolz HJ, Chafik A, Kubisch C, et al. ​Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C​. ​​Molecular vision. ​2007;​13​(204-08):​​1862​-1865​. ​
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  • 2007 | Journal Article | Research Paper
    ​ ​Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, et al. ​MY015A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation​. ​​American Journal of Medical Genetics. ​2007;​143A​(20):​​2382​-2389​. ​doi:10.1002/ajmg.a.31937. 
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  • 2007 | Journal Article | Research Paper
    ​ ​Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, et al. ​Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-Segment elevation, short QT intervals, and sudden cardiac death​. ​​Circulation. ​2007;​115​(4):​​442​-449​. ​doi:10.1161/CIRCULATIONAHA.106.668392. 
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  • 2007 | Journal Article | Research Paper
    ​ ​Elcioglu NH, Akin B, Toker E, Elcioglu M, Kaya A, Tuncali T, et al. ​Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region​. ​​American Journal of Medical Genetics. ​2007;​143A​(12):​​1308​-1312​. ​doi:10.1002/ajmg.a.31766. 
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  • 2007 | Journal Article | Research Paper
    ​ ​Crisponi L, Crisponi G, Meloni A, Toliat MR, Nürnberg G, Usala G, et al. ​Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1​. ​​American journal of human genetics. ​2007;​80​(5):​​971​-981​. ​doi:10.1086/516843. 
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  • 2007 | Journal Article | Research Paper
    ​ ​Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, et al. ​Lacrimo-auricuto-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathwayv​. ​​Molecular and Cellular Biology. ​2007;​27​(19):​​6903​-6912​. ​doi:10.1128/MCB.00544-07. 
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  • 2007 | Journal Article | Research Paper
    ​ ​Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies HC, et al. ​A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3​. ​​Clinical Genetics. ​2007;​71​(3):​​212​-219​. ​doi:10.1111/j.1399-0004.2007.00762.x. 
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  • 2007 | Journal Article | Research Paper
    ​ ​Collin RWJ, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, et al. ​Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment​. ​​Human Mutation. ​2007;​28​(7):​​718​-723​. ​doi:10.1002/humu.20510. 
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  • 2007 | Journal Article | Research Paper
    ​ ​Lew ED, Bae JH, Rohmann E, Wollnik B, Schlessinger J. ​Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation​. ​​Proceedings of the National Academy of Sciences. ​2007;​104​(50):​​19802​-19807​. ​doi:10.1073/pnas.0709905104. 
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  • 2006 | Conference Abstract
    ​ ​Unsoeld BW, Noack C, Kranz A, Schniebs C, Wollnik B, Hasenfuß G, et al. ​Severe manifestation of arrhythmogenic right ventricular cardiomyopathy (ARVC) in a family with a nonsense-mutation in the plakophilin-2 gene​. ​​Chicago, IL. ​Circulation. ​2006;​114​(18)
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  • 2006 | Journal Article | Erratum | 
    ​ ​Rohmann E, Brunner H, Kayserili H, Uyguner O, Nürnberg G, Lew E, et al. ​Erratum: Mutations in different components of FGF signaling in LADD syndrome​. ​​Nature Genetics. ​2006;​38​(4):​​495​-495​. ​doi:10.1038/ng0406-495. 
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  • 2006 | Journal Article | Research Paper
    ​ ​Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RWJ, Caylan R, et al. ​Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss​. ​​Human Mutation. ​2006;​27​(7):​​633​-639​. ​doi:10.1002/humu.20368. 
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  • 2006 | Journal Article | Research Paper
    ​ ​Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, et al. ​Mutations in different components of FGF signaling in LADD syndrome​. ​​Nature Genetics. ​2006;​38​(4):​​414​-417​. ​doi:10.1038/ng1757. 
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  • 2006 | Journal Article | Research Paper
    ​ ​Uyguner O, Siva A, Kayserili H, Saip S, Altintas A, Apak MY, et al. ​The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome​. ​​Journal of the Neurological Sciences. ​2006;​246​(1-2):​​123​-130​. ​doi:10.1016/j.jns.2006.02.021. 
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  • 2006 | Journal Article | Research Paper
    ​ ​Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, et al. ​Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome​. ​​Journal of Medical Genetics. ​2006;​43​(2). ​doi:10.1136/jmg.2005.032904. 
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  • 2006 | Journal Article | Letter Note
    ​ ​Li Y, Wollnik B, Pabst S, Lennarz M, Rohmann E, Gillissen A, et al. ​BTNL2 gene variant and sarcoidosis​. ​​Thorax. ​2006;​61​(3):​​273​-274​. ​doi:10.1136/thx.2005.056564. 
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  • 2006 | Journal Article | Research Paper
    ​ ​Anastasakis A, Kotta CM, Kyriakogonas S, Wollnik B, Theopistou A, Stefanadis C. ​Phenotype reveals genotype in a Greek long QT syndrome family​. ​​EP Europace. ​2006;​8​(4):​​241​-244​. ​doi:10.1093/europace/eul012. 
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  • 2005 | Journal Article | Research Paper
    ​ ​Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, et al. ​A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification​. ​​Human Genetics. ​2005;​118​(2):​​261​-266​. ​doi:10.1007/s00439-005-0026-8. 
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  • 2005 | Journal Article | Research Paper
    ​ ​Kalay E, Brouwer APM, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, et al. ​A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome​. ​​Journal of Molecular Medicine. ​2005;​83​(12):​​1025​-1032​. ​doi:10.1007/s00109-005-0719-4. 
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  • 2005 | Journal Article | Research Paper
    ​ ​Tukel T, Uzumcu A, Gezer A, Kayserili H, Apak MY, Uyguner O, et al. ​A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter​. ​​Journal of Medical Genetics. ​2005;​42​(5):​​408​-415​. ​doi:10.1136/jmg.2004.026138. 
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  • 2004 | Journal Article | Research Paper
    ​ ​Basaran S, Engur A, Aytan M, Karaman B, Ghanem A, Toksoy G, et al. ​The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses​. ​​Fetal Diagnosis and Therapy. ​2004;​19​(4):​​313​-318​. ​doi:10.1159/000077958. 
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  • 2004 | Journal Article
    ​ ​Hering R, Strauss KA, Tao X, Bauer A, Woitalla D, Mietz EM, et al. ​Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)​. ​​Human Mutation. ​2004;​24​(4):​​321​-329​. ​doi:10.1002/humu.20089. 
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  • 2004 | Journal Article
    ​ ​Jeron A, Hengstenberg C, Holmer S, Wollnik B, Riegger GAJ, Schunkert H, et al. ​KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction​. ​​Journal of Molecular and Cellular Cardiology. ​2004;​36​(2):​​287​-293​. ​doi:10.1016/j.yjmcc.2003.11.009. 
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  • 2003 | Journal Article
    ​ ​Özden S, Düzcan F, Wollnik B, Çetin GO, Sahiner T, Bayramoglu I, et al. ​Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family​. ​​Ophthalmic Genetics. ​2003;​23​(1):​​29​-36​. ​doi:10.1076/opge.23.1.29.2208. 
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  • 2003 | Journal Article | Research Paper
    ​ ​Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, et al. ​Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia​. ​​American journal of human genetics. ​2003;​72​(2):​​408​-418​. ​doi:10.1086/346090. 
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  • 2003 | Journal Article | Research Paper
    ​ ​Karaman B, Wollnik B, Ermis H, Yüksel Apak M, Basaran S. ​A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family​. ​​Prenatal Diagnosis. ​2003;​23​(4):​​336​-339​. ​doi:10.1002/pd.592. 
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  • 2003 | Journal Article | Research Paper
    ​ ​Tukel T, Uyguner O, Wei JQ, Yüksel Apak M, Saka N, Song DX, et al. ​A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency​. ​​The Journal of Clinical Endocrinology & Metabolism. ​2003;​88​(12):​​5893​-5897​. ​doi:10.1210/jc.2003-030813. 
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  • 2003 | Journal Article | Research Paper
    ​ ​Uyguner O, Emiroglu MU, Uzumcu A, Hafiz G, Ghanem A, Baserer N, et al. ​Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss​. ​​Clinical Genetics. ​2003;​64​(1):​​65​-69​. ​doi:10.1034/j.1399-0004.2003.00101.x. 
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  • 2003 | Journal Article | Research Paper
    ​ ​Uyguner O, Jorge EG, Cefle A, Baykal T, Kayserili H, Cefle K, et al. ​Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations​. ​​Journal of Inherited Metabolic Disease. ​2003;​26​(1):​​17​-23​. ​doi:10.1023/A:1024063126954. 
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  • 2003 | Journal Article | Research Paper
    ​ ​Wollnik B, Tukel T, Uyguner O, Ghanem A, Kayserili H, Emiroglu MU, et al. ​Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome​. ​​American Journal of Medical Genetics. ​2003;​122A​(1):​​42​-45​. ​doi:10.1002/ajmg.a.20260. 
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  • 2002 | Journal Article | Research Paper
    ​ ​Utku U, Celik Y, Uyguner O, Yüksel Apak M, Wollnik B. ​CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor​. ​​European Journal of Neurology. ​2002;​9​(1):​​23​-28​. ​doi:10.1046/j.1468-1331.2002.00344.x. 
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  • 2002 | Journal Article | Research Paper
    ​ ​Wollnik B, Kayserili H, Uyguner O, Tukel T, Yüksel Apak M. ​Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family​. ​​Annales de Génétique. ​2002;​45​(4):​​213​-217​. ​doi:10.1016/S0003-3995(02)01144-9. 
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  • 2002 | Journal Article | Research Paper
    ​ ​Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, et al. ​Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms​. ​​Cytogenetic and Genome Research. ​2002;​98​(1):​​29​-37​. ​doi:10.1159/000068535. 
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  • 2002 | Journal Article | Research Paper
    ​ ​Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu MU, Hafiz G, et al. ​The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family​. ​​Clinical Genetics. ​2002;​62​(4):​​306​-309​. ​doi:10.1034/j.1399-0004.2002.620409.x. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Scherer CR, Lerche C, Decher N, Dennis AT, Maier P, Ficker E, et al. ​The antihistamine fexofenadine does not affect I-Kr currents in a case report of drug-induced cardiac arrhythmia​. ​​British Journal of Pharmacology. ​2002;​137​(6):​​892​-900​. ​doi:10.1038/sj.bjp.0704873. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​Decher N, Uyguner O, Scherer CR, Karaman B, Yüksel Apak M, Busch AE, et al. ​HKChIP2 is a functional modifier of hKv4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant​. ​​Cardiovascular Research. ​2001;​52​(2):​​255​-264​. ​doi:10.1016/S0008-6363(01)00374-1. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​Erdmann J, Raible J, Maki-Abadi J, Hummel M, Hammann J, Wollnik B, et al. ​Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy​. ​​Journal of the American College of Cardiology. ​2001;​38​(2):​​322​-330​. ​doi:10.1016/S0735-1097(01)01387-0. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​Jakubiczka S, Bettecken T, Koch G, Tuysuz B, Wollnik B, Wieacker P. ​Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene​. ​​Clinical Dysmorphology. ​2001;​10​(3):​​197​-201​. ​doi:10.1097/00019605-200107000-00009. 
    ​Details  DOI  PMID  PMC  WoS 
  • 1998 | Journal Article
    ​ ​Pusch M, Magrassi R, Wollnik B, Conti F. ​Activation and Inactivation of Homomeric KvLQT1 Potassium Channels​. ​​Biophysical Journal. ​1998;​75​(2):​​785​-792​. ​doi:10.1016/s0006-3495(98)77568-x. 
    ​Details  DOI 
  • 1997 | Journal Article | Research Paper
    ​ ​Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ. ​Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias​. ​​Human Molecular Genetics. ​1997;​6​(11):​​1943​-1949​. ​doi:10.1093/hmg/6.11.1943. 
    ​Details  DOI  PMID  PMC  WoS 
  • 1997 | Journal Article | Research Paper
    ​ ​Wollnik B, Kubisch C, Steinmeyer K, Pusch M. ​Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations​. ​​Human Molecular Genetics. ​1997;​6​(5):​​805​-811​. ​doi:10.1093/hmg/6.5.805. 
    ​Details  DOI  PMID  PMC  WoS 
  • 1995 | Journal Article
    ​ ​Maass A, Grohe C, Kubisch C, Wollnik B, Vetter H, Neyses L. ​Hormonal induction of an immediate-early gene response in myogenic cell lines--a paradigm for heart growth​. ​​European Heart Journal. ​1995;​16​(suppl C):​​12​-14​. ​doi:10.1093/eurheartj/16.suppl_C.12. 
    ​Details  DOI 
  • 1994 | Journal Article | Research Paper
    ​ ​Wollnik B, GUICHENEY P. ​CLINICAL AND GENETIC-ASPECTS OF THE LONG QT SYNDROME​. ​​Herz. ​1994;​19​(2):​​126​-132​. ​
    ​Details  PMID  PMC  WoS 
  • 1993 | Journal Article | Research Paper
    ​ ​Kubisch C, Wollnik B, Maass A, Meyer R, Vetter H, Neyses L. ​Immediate-early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytes​. ​​FEBS Letters. ​1993;​335​(1):​​37​-40​. ​doi:10.1016/0014-5793(93)80434-V. 
    ​Details  DOI  PMID  PMC  WoS 
  • 1993 | Journal Article | Research Paper
    ​ ​Wollnik B, Kubisch C, MAASS A, Vetter H, NEYSES L. ​HYPEROSMOTIC STRESS INDUCES IMMEDIATE-EARLY GENE-EXPRESSION IN VENTRICULAR ADULT CARDIOMYOCYTES​. ​​Biochemical and Biophysical Research Communications. ​1993;​194​(2):​​642​-646​. ​doi:10.1006/bbrc.1993.1869. 
    ​Details  DOI  PMID  PMC  WoS 

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