The American Journal of Human Genetics

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  • 2023 | Journal Article
    ​ ​Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans​
    Guo, L.; Salian, S.; Xue, J.-y.; Rath, N.; Rousseau, J.; Kim, H. & Ehresmann, S. et al.​ (2023) 
    The American Journal of Human Genetics,.​ DOI: https://doi.org/10.1016/j.ajhg.2023.06.001 
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  • 2022 | Journal Article
    ​ ​Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss​
    Trpchevska, N.; Freidin, M. B.; Broer, L.; Oosterloo, B. C.; Yao, S.; Zhou, Y. & Vona, B. et al.​ (2022) 
    The American Journal of Human Genetics,.​ DOI: https://doi.org/10.1016/j.ajhg.2022.04.010 
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  • 2020 | Journal Article
    ​ ​Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases​
    Haskamp, S.; Bruns, H.; Hahn, M.; Hoffmann, M.; Gregor, A.; Löhr, S. & Hahn, J. et al.​ (2020) 
    The American Journal of Human Genetics, 107(3) pp. 527​-538​.​ DOI: https://doi.org/10.1016/j.ajhg.2020.07.001 
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  • 2019 | Journal Article | Research Paper
    ​ ​Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​
    Moosa, S. ; Yamamoto, G. L.; Garbes, L.; Keupp, K.; Beleza-Meireles, A.; Moreno, C. A. & Valadares, E. R. et al.​ (2019) 
    The American Journal of Human Genetics, 105(4) pp. 836​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.08.008 
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  • 2019 | Journal Article
    ​ ​Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome​
    Capri, Y.; Flex, E.; Krumbach, O. H.; Carpentieri, G.; Cecchetti, S.; Lißewski, C. & Rezaei Adariani, S. et al.​ (2019) 
    The American Journal of Human Genetics, 104(6) pp. 1223​-1232​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.04.013 
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  • 2019 | Journal Article
    ​ ​Paralog Studies Augment Gene Discovery: DDX and DHX Genes​
    Paine, I.; Posey, J. E.; Grochowski, C. M.; Jhangiani, S. N.; Rosenheck, S.; Kleyner, R. & Marmorale, T. et al.​ (2019) 
    The American Journal of Human Genetics, 105(2) pp. 302​-316​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.06.001 
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  • 2019 | Journal Article
    ​ ​Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders​
    Fischer-Zirnsak, B.; Segebrecht, L.; Schubach, M.; Charles, P.; Alderman, E.; Brown, K. & Cadieux-Dion, M. et al.​ (2019) 
    The American Journal of Human Genetics, 105(3) pp. 631​-639​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.07.002 
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  • 2018 | Journal Article
    ​ ​Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​
    Martin, C.-A.; Sarlós, K.; Logan, C. V.; Thakur, R. S.; Parry, D. A.; Bizard, A. H. & Leitch, A. et al.​ (2018) 
    The American Journal of Human Genetics, 103(3) pp. 456​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.08.012 
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  • 2018 | Journal Article
    ​ ​Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency​
    Alston, C. L.; Heidler, J.; Dibley, M. G.; Kremer, L. S.; Taylor, L. S.; Fratter, C. & French, C. E. et al.​ (2018) 
    The American Journal of Human Genetics, 103(4) pp. 592​-601​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.08.013 
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  • 2018 | Journal Article
    ​ ​Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome​
    Vasileiou, G.; Vergarajauregui, S.; Endele, S.; Popp, B.; Büttner, C.; Ekici, A. B. & Gerard, M. et al.​ (2018) 
    The American Journal of Human Genetics, 102(3) pp. 468​-479​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.01.014 
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  • 2018 | Journal Article
    ​ ​Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex​
    Romano, M.-T.; Tafazzoli, A.; Mattern, M.; Sivalingam, S.; Wolf, S.; Rupp, A. & Thiele, H. et al.​ (2018) 
    The American Journal of Human Genetics, 103(5) pp. 777​-785​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.09.011 
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  • 2018 | Journal Article | Research Paper | 
    ​ ​Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​
    Martin, C.-A.; Sarlós, K.; Logan, C. V.; Thakur, R. S.; Parry, D. A.; Bizard, A. H. & Leitch, A. et al.​ (2018) 
    The American Journal of Human Genetics, 103(2) pp. 221​-231​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.07.001 
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  • 2017 | Journal Article | 
    ​ ​CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays​
    Windpassinger, C.; Piard, J.; Bonnard, C.; Alfadhel, M.; Lim, S.; Bisteau, X. & Blouin, S. et al.​ (2017) 
    The American Journal of Human Genetics, 101(3) pp. 391​-403​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.08.003 
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  • 2017 | Journal Article
    ​ ​Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa​
    Van Damme, T.; Gardeitchik, T.; Mohamed, M.; Guerrero-Castillo, S.; Freisinger, P.; Guillemyn, B. & Kariminejad, A. et al.​ (2017) 
    The American Journal of Human Genetics, 100(2) pp. 216​-227​.​ DOI: https://doi.org/10.1016/j.ajhg.2016.12.010 
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  • 2017 | Journal Article | Research Paper
    ​ ​De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​
    Ehmke, N.; Graul-Neumann, L.; Smorag, L. ; Koenig, R.; Segebrecht, L.; Magoulas, P. & Scaglia, F. et al.​ (2017) 
    The American Journal of Human Genetics, 101(5) pp. 833​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.09.016 
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  • 2016 | Journal Article
    ​ ​Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome​
    Basmanav, F. B. U.; Cau, L.; Tafazzoli, A.; Mechin, M.-C.; Wolf, S.; Romano, M. T. & Valentin, F. et al.​ (2016) 
    The American Journal of Human Genetics, 99(6) pp. 1292​-1304​.​ DOI: https://doi.org/10.1016/j.ajhg.2016.10.004 
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  • 2016 | Journal Article
    ​ ​Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate​
    Mangold, E.; Boehmer, A. C.; Ishorst, N.; Hoebel, A.-K.; Gueltepe, P.; Schuenke, H. & Klamt, J. et al.​ (2016) 
    The American Journal of Human Genetics, 98(4) pp. 755​-762​.​ DOI: https://doi.org/10.1016/j.ajhg.2016.02.013 
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  • 2015 | Journal Article
    ​ ​Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa​
    Fischer-Zirnsak, B.; Escande-Beillard, N.; Ganesh, J.; Tan, Y. X.; Al Bughaili, M.; Lin, A. E & Sahai, I. et al.​ (2015) 
    The American Journal of Human Genetics, 97(3) pp. 483​-492​.​ DOI: https://doi.org/10.1016/j.ajhg.2015.08.001 
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  • 2015 | Journal Article | 
    ​ ​Amino acid variation in HLA class II proteins is a major determinant of humoral response to common viruses​
    Hammer, C. ; Begemann, M. ; McLaren, P. J.; Bartha, I.; Michel, A.; Klose, B. & Schmitt, C. et al.​ (2015) 
    American journal of human genetics, 97(5) pp. 738​-743​.​ DOI: https://doi.org/10.1016/j.ajhg.2015.09.008 
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  • 2015 | Journal Article
    ​ ​Modeling linkage disequilibrium increases accuracy of polygenic risk scores​
    Vilhjálmsson, B. J.; Yang, J.; Finucane, H. K.; Gusev, A.; Lindström, S.; Ripke, S. & Genovese, G. et al.​ (2015) 
    American journal of human genetics, 97(4) pp. 576​-592​.​ DOI: https://doi.org/10.1016/j.ajhg.2015.09.001 
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  • 2015 | Journal Article | Research Paper
    ​ ​Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta​
    Garbes, L.; Kim, K.; Riess, A.; Hoyer-Kuhn, H.; Beleggia, F.; Bevot, A. & Kim, M. J. et al.​ (2015) 
    American journal of human genetics, 96(3) pp. 432​-439​.​ DOI: https://doi.org/10.1016/j.ajhg.2015.01.002 
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  • 2014 | Journal Article
    ​ ​Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome​
    Ehmke, N.; Caliebe, A.; Koenig, R.; Kant, S. G; Stark, Z.; Cormier-Daire, V. & Wieczorek, D. et al.​ (2014) 
    The American Journal of Human Genetics, 95(6) pp. 763​-770​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.11.004 
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  • 2014 | Journal Article
    ​ ​Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease​
    Minikel, E. V.; Zerr, I.; Collins, S. J.; Ponto, C.; Boyd, A.; Klug, G. M. J. A. & Karch, A. et al.​ (2014) 
    The American Journal of Human Genetics, 95(4) pp. 371​-382​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.09.003 
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  • 2014 | Journal Article
    ​ ​Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases​
    Gusev, A.; Lee, S. H.; Trynka, G.; Finucane, H. K.; Vilhjálmsson, B. J.; Xu, H. & Zang, C. et al.​ (2014) 
    The American Journal of Human Genetics, 95(5) pp. 535​-552​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.10.004 
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  • 2014 | Journal Article
    ​ ​Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration​
    Synofzik, M.; Haack, T. B.; Kopajtich, R.; Gorza, M.; Rapaport, D. ; Greiner, M. & Schoenfeld, C. et al.​ (2014) 
    The American Journal of Human Genetics, 95(6) pp. 689​-697​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.10.013 
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  • 2014 | Journal Article | 
    ​ ​Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome​
    Schulte, E. C.; Kousi, M.; Tan, P. L.; Tilch, E.; Knauf, F.; Lichtner, P. & Trenkwalder, C. et al.​ (2014) 
    The American Journal of Human Genetics, 95(1) pp. 85​-95​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.06.005 
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  • 2014 | Journal Article
    ​ ​Progesterone Antagonist Therapy in a Pelizaeus-Merzbacher Mouse Model​
    Prukop, T.; Epplen, D. B.; Nientiedt, T.; Wichert, S. P.; Fledrich, R.; Stassart, R. M. & Rossner, M. J. et al.​ (2014) 
    The American Journal of Human Genetics, 94(4) pp. 533​-546​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.03.001 
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  • 2014 | Journal Article | Research Paper
    ​ ​Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​
    Hussain, M. S.; Battaglia, A.; Szczepanski, S.; Kaygusuz, E.; Toliat, M. R.; Sakakibara, S.-i. & Altmüller, J. et al.​ (2014) 
    American journal of human genetics, 95(5) pp. 622​-632​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.10.008 
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  • 2013 | Journal Article | 
    ​ ​Extracellular matrix remodeling genes polymorphisms and risk of chronic bronchitis and recurrent pneumonia in children​
    Korytina, G. F.; Akhmadishina, L. Z.; Viktorova, E. V.; Tselousova, O. S.; Danilko, K. V.; Kochetova, O. V. & Viktorova, T. V.​ (2013) 
    Journal of Human Genetics, 58(7) pp. 467​-474​.​ DOI: https://doi.org/10.1038/jhg.2013.24 
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  • 2013 | Journal Article | Research Paper
    ​ ​Mutations in WNT1 Cause Different Forms of Bone Fragility​
    Keupp, K.; Beleggia, F.; Kayserili, H.; Barnes, A. M.; Steiner, M.; Semler, O. & Fischer, B. et al.​ (2013) 
    American journal of human genetics, 92(4) pp. 565​-574​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.02.010 
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  • 2013 | Journal Article | Research Paper
    ​ ​Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability​
    Boegershausen, N.; Shahrzad, N.; Chong, J. X.; von Kleist-Retzow, J.-C.; Stanga, D.; Li, Y.   & Bernier, F. P. et al.​ (2013) 
    American journal of human genetics, 93(1) pp. 181​-190​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.05.028 
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  • 2013 | Journal Article
    ​ ​Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy​
    Ravenscroft, G.; Miyatake, S.; Lehtokari, V.-L.; Todd, E. J.; Vomauen, P.; Yau, K. S. & Hayashi, Y. K. et al.​ (2013) 
    The American Journal of Human Genetics, 93(1) pp. 6​-18​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.05.004 
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  • 2012 | Journal Article
    ​ ​Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin​
    Huppke, P.; Brendel, C.; Kalscheuer, V.; Korenke, G.; Marquardt, I.; Freisinger, P. & Christodoulou, J. et al.​ (2012) 
    The American Journal of Human Genetics, 90(2) pp. 378​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.01.015 
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  • 2012 | Journal Article | Research Paper
    ​ ​A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss​
    von Ameln, S.; Wang, G.; Boulouiz, R.; Rutherford, M. A.; Smith, G. M.; Li, Y.   & Pogoda, H.-M. et al.​ (2012) 
    American journal of human genetics, 91(5) pp. 919​-927​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.09.002 
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  • 2012 | Journal Article | Research Paper
    ​ ​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​
    Semler, O.; Garbes, L.; Keupp, K.; Swan, D.; Zimmermann, K.; Becker, J. & Iden, S. et al.​ (2012) 
    American journal of human genetics, 91(2) pp. 349​-357​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.06.011 
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  • 2012 | Journal Article | Research Paper
    ​ ​Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​
    Asharani, P. V.; Keupp, K.; Semler, O.; Wang, W.; Li, Y. ; Thiele, H. & Yigit, G.  et al.​ (2012) 
    American journal of human genetics, 90(4) pp. 661​-674​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.02.026 
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  • 2012 | Journal Article | Research Paper
    ​ ​A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment​
    Schrauwen, I.; Helfmann, S.; Inagaki, A.; Predoehl, F. ; Tabatabaiefar, M. A.; Picher, M. M.   & Sommen, M. et al.​ (2012) 
    American journal of human genetics, 91(4) pp. 636​-645​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.08.018 
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  • 2012 | Journal Article | Research Paper
    ​ ​Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin​
    Huppke, P. ; Brendel, C.; Kalscheuer, V.; Korenke, G. C.; Marquardt, I.; Freisinger, P. & Christodoulou, J. et al.​ (2012) 
    American journal of human genetics, 90(1) pp. 61​-68​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.11.030 
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  • 2011 | Journal Article
    ​ ​A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma​
    Landi, M.; Chatterjee, N.; Yu, K.; Goldin, L.; Goldstein, A.; Rotunno, M. & Mirabello, L. et al.​ (2011) 
    The American Journal of Human Genetics, 88(6) pp. 861​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.05.003 
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  • 2011 | Journal Article
    ​ ​Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation​
    Hartig, M. B.; Iuso, A.; Haack, T. B.; Kmiec, T.; Jurkiewicz, E.; Heim, K. & Roeber, S. et al.​ (2011) 
    The American Journal of Human Genetics, 89(4) pp. 543​-550​.​
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  • 2011 | Journal Article
    ​ ​Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency​
    Banka, S.; Blom, H. J.; Walter, J.; Aziz, M.; Urquhart, J. E.; Clouthier, C. M. & Rice, G. I. et al.​ (2011) 
    The American Journal of Human Genetics, 88(2) pp. 216​-225​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.01.004 
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  • 2011 | Journal Article | Research Paper
    ​ ​Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid​
    Laue, K.; Pogoda, H.-M.; Daniel, P. B.; van Haeringen, A.; Alanay, Y.; von Ameln, S. & Rachwalski, M. et al.​ (2011) 
    American journal of human genetics, 89(5) pp. 595​-606​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.09.015 
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  • 2011 | Journal Article | Research Paper
    ​ ​Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta​
    Becker, J.; Semler, O.; Gilissen, C.; Li, Y. ; Bolz, H. J.; Giunta, C. & Bergmann, C. et al.​ (2011) 
    American journal of human genetics, 88(3) pp. 362​-371​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.01.015 
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  • 2011 | Journal Article
    ​ ​A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease​
    Zimprich, A.; Benet-Pages, A.; Struhal, W.; Graf, E.; Eck, S. H.; Offman, M. N. & Haubenberger, D. et al.​ (2011) 
    The American Journal of Human Genetics, 89(1) pp. 168​-175​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.06.008 
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  • 2011 | Journal Article | Research Paper
    ​ ​Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42​
    Borck, G.; Rehman, A. U.; Lee, K.; Pogoda, H.-M.; Kakar, N.; von Ameln, S. & Grillet, N. et al.​ (2011) 
    American journal of human genetics, 88(2) pp. 127​-137​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.12.011 
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  • 2011 | Journal Article
    ​ ​Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder (vol 88, pg 372, 2011)​
    Cichon, S.; Muehleisen, T. W.; Degenhardt, F. A.; Mattheisen, M.; Miro, X.; Strohmaier, J. & Steffens, M. et al.​ (2011) 
    The American Journal of Human Genetics, 88(3).​ DOI: https://doi.org/10.1016/j.ajhg.2011.03.001 
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  • 2010 | Journal Article
    ​ ​Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome​
    Brancati, F.; Fortugno, P.; Bottillo, I.; Lopez, M.; Josselin, E.; Boudghene-Stambouli, O. & Agolini, E. et al.​ (2010) 
    The American Journal of Human Genetics, 87(2) pp. 265​-273​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.07.003 
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  • 2010 | Journal Article | Research Paper
    ​ ​Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss​
    Li, Y. ; Pohl, E.; Boulouiz, R.; Schraders, M.; Nürnberg, G.; Charif, M. & Admiraal, R. J. C. et al.​ (2010) 
    American journal of human genetics, 86(3) pp. 479​-484​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.02.003 
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  • 2010 | Journal Article | Research Paper
    ​ ​Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling​
    Li, Y. ; Laue, K.; Temtamy, S.; Aglan, M.; Kotan, L. D.; Yigit, G.   & Canan, H. et al.​ (2010) 
    American journal of human genetics, 87(6) pp. 757​-767​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.10.003 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article
    ​ ​Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia​
    Uz, E.; Alanay, Y.; Aktas, D.; Vargel, I.; Gucer, S.; Tuncbilek, G. & Eggeling, F. von et al.​ (2010) 
    American journal of human genetics, 86(5) pp. 789​-796​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.04.002 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article
    ​ ​Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria​
    O'Driscoll, M. C.; Daly, S. B.; Urquhart, J. E.; Black, G. C. M.; Pilz, D. T.; Brockmann, K. & McEntagart, M. et al.​ (2010) 
    The American Journal of Human Genetics, 87(3) pp. 354​-364​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.07.012 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome​
    Li, Y. ; Pawlik, B.; Elcioglu, N. H.; Aglan, M.; Kayserili, H.; Yigit, G.   & Percin, E. F. et al.​ (2010) 
    American journal of human genetics, 86(5) pp. 696​-706​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.03.004 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article
    ​ ​X Chromosomal Variation Is Associated with Slow Progression to AIDS in HIV-1-Infected Women​
    Siddiqui, R. A.; Sauermann, U.; Altmüller, J.; Fritzer, E.; Nothnagel, M.; Dalibor, N. & Fellay, J. et al.​ (2009) 
    The American Journal of Human Genetics, 85(2) pp. 228​-239​.​ DOI: https://doi.org/10.1016/j.ajhg.2009.07.013 
    ​Details  DOI 
  • 2009 | Journal Article | 
    ​ ​Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism​
    Steinfeld, R.; Grapp, M.; Kraetzner, R.; Dreha-Kulaczewski, S.; Helms, G.; Dechent, P. & Wevers, R. et al.​ (2009) 
    The American Journal of Human Genetics, 85 pp. 354​-363​.​ DOI: https://doi.org/10.1016/j.ajhg.2009.08.005. 
    ​Details  DOI 
  • 2009 | Journal Article
    ​ ​A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma​
    Landi, M. T.; Chatterjee, N.; Yu, K.; Goldin, L. R.; Goldstein, A. M.; Rotunno, M. & Mirabello, L. et al.​ (2009) 
    The American Journal of Human Genetics, 85(5) pp. 679​-691​.​ DOI: https://doi.org/10.1016/j.ajhg.2009.09.012 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | 
    ​ ​TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations​
    Haeberle, J.; Pauli, S.; Berning, C.; Koch, H.-G. & Linnebank, M.​ (2009) 
    Journal of Human Genetics, 54(6) pp. 331​-334​.​ DOI: https://doi.org/10.1038/jhg.2009.34 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Letter Note
    ​ ​The role of ZFYVE27/protrudin in hereditary spastic paraplegia - Response to Martignoni et al.​
    Mannan, A. U.​ (2008) 
    The American Journal of Human Genetics, 83(1) pp. 128​-130​.​ DOI: https://doi.org/10.1016/j.ajhg.2008.05.018 
    ​Details  DOI  WoS 
  • 2008 | Journal Article | 
    ​ ​TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate​
    Reutter, H.; Birnbaum, S.; Mende, M.; Lauster, C.; Schmidt, G.; Henschke, H. & Saffar, M. et al.​ (2008) 
    Journal of Human Genetics, 53(7) pp. 656​-661​.​ DOI: https://doi.org/10.1007/s10038-008-0296-9 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article
    ​ ​Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis​
    Berkovic, S. F.; Dibbens, L. M.; Oshlack, A.; Silver, J. D.; Katerelos, M.; Vears, D. F. & Luellmann-Rauch, R. et al.​ (2008) 
    The American Journal of Human Genetics, 82(3) pp. 673​-684​.​ DOI: https://doi.org/10.1016/j.ajhg.2007.12.019 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice​
    Ruel, J.; Emery, S.; Nouvian, R. ; Bersot, T.; Amilhon, B.; Van Rybroek, J. M. & Rebillard, G. et al.​ (2008) 
    American journal of human genetics, 83(2) pp. 278​-292​.​ DOI: https://doi.org/10.1016/j.ajhg.2008.07.008 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35​
    Collin, R. W. J.; Kalay, E.; Tariq, M.; Peters, T.; van der Zwaag, B.; Venselaar, H. & Oostrik, J. et al.​ (2008) 
    American journal of human genetics, 82(1) pp. 125​-138​.​ DOI: https://doi.org/10.1016/j.ajhg.2007.09.008 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article
    ​ ​Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency​
    Kuegler, S.; Hahnewald, R.; Garrido, M. & Reiss, J.​ (2007) 
    The American Journal of Human Genetics, 80(2) pp. 291​-297​.​ DOI: https://doi.org/10.1086/511281 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1​
    Crisponi, L.; Crisponi, G.; Meloni, A.; Toliat, M. R.; Nürnberg, G.; Usala, G. & Uda, M. et al.​ (2007) 
    American journal of human genetics, 80(5) pp. 971​-981​.​ DOI: https://doi.org/10.1086/516843 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article
    ​ ​Satb2 Haploinsufficiency Phenocopies 2q32-q33 Deletions, whereas Loss Suggests a Fundamental Role in the Coordination of Jaw Development​
    Britanova, O.; Depew, M. J.; Schwark, M.; Thomas, B. L.; Miletich, I.; Sharpe, P. & Tarabykin, V.​ (2006) 
    The American Journal of Human Genetics, 79(4) pp. 668​-678​.​ DOI: https://doi.org/10.1086/508214 
    ​Details  DOI 
  • 2006 | Journal Article | Research Paper
    ​ ​Cathepsin D deficiency is associated with a human neurodegenerative disorder​
    Steinfeld, R. ; Reinhardt, K.; Schreiber, K.; Hillebrand, M.; Kraetzner, R. ; Brück, W.   & Saftig, P.  et al.​ (2006) 
    American journal of human genetics, 78(6) pp. 988​-998​.​ DOI: https://doi.org/10.1086/504159 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article
    ​ ​ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia​
    Mannan, A. U.; Krawen, P.; Sauter, S. M.; Boehm, J.; Chronowska, A.; Paulus, W. J. & Neesen, J. et al.​ (2006) 
    The American Journal of Human Genetics, 79(2) pp. 351​-357​.​ DOI: https://doi.org/10.1086/504927 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​Deficiency of GDP-Man : GlcNAc(2)-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik​
    Schwarz, M.; Thiel, C.; Lubbehusen, J.; Dorland, B.; de Koning, T.; von Figura, K. & Lehle, L. et al.​ (2004) 
    The American Journal of Human Genetics, 74(3) pp. 472​-481​.​ DOI: https://doi.org/10.1086/382492 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene​
    Dumitrescu, A. M.; Liao, X. H.; Best, T. B.; Brockmann, K. & Refetoff, S.​ (2004) 
    The American Journal of Human Genetics, 74(1) pp. 168​-175​.​ DOI: https://doi.org/10.1086/380999 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​The PARK8 locus in autosomal dominant parkinsonism: Confirmation of linkage and further delineation of the disease-containing interval​
    Zimprich, A.; Muller-Myhsok, B.; Farrer, M. J.; Leitner, P.; Sharma, M.; Hulihan, M. & Lockhart, P. et al.​ (2004) 
    The American Journal of Human Genetics, 74(1) pp. 11​-19​.​ DOI: https://doi.org/10.1086/380647 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article | Research Paper
    ​ ​Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease​
    Uhlenberg, B.; Schuelke, M.; Ruschendorf, F.; Ruf, N.; Kaindl, A. M.; Henneke, M. & Thiele, H. et al.​ (2004) 
    American journal of human genetics, 75(2) pp. 251​-260​.​ DOI: https://doi.org/10.1086/422763 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article
    ​ ​Genetic disorders of the skeleton: a developmental approach​
    Kornak, U.   & Mundlos, S.​ (2003) 
    The American Journal of Human Genetics, 73(3) pp. 447​-474​.​ DOI: https://doi.org/10.1086/377110 
    ​Details  DOI  PMID  PMC 
  • 2003 | Conference Abstract
    ​ ​SALL4 mutations result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, Acro-Reno-Ocular syndrome and patients previously reported to represent Thalidomide Embryopathy.​
    Kohlhase, J.; Schubert, L.; Liebers, M.; Hennekam, R.; Rauch, A.; Becker, K. & Mohammed, S. N. et al.​ (2003)
    The American Journal of Human Genetics, 73(5) ​Annual Meeting of the American-Society-of-Human-Genetics​, LOS ANGELES, CALIFORNIA.
    Chicago​: Univ Chicago Press.
    ​Details  WoS 
  • 2003 | Conference Abstract
    ​ ​A West European cluster of severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.​
    Dagvadorj, A.; Olive, M.; Urtizberea, J. A.; Halle, M.; Shatunov, A.; Bönnemann, C. & Park, K. Y. et al.​ (2003)
    The American Journal of Human Genetics, 73(5) ​Annual Meeting of the American-Society-of-Human-Genetics​, LOS ANGELES, CALIFORNIA.
    Chicago​: Univ Chicago Press.
    ​Details  WoS 
  • 2003 | Conference Abstract
    ​ ​Invasive trophoblast antigen (ITA) as a marker of fetal aneuploidy in the first and second trimester of pregnancy​
    Sancken, U.; Schemer, R.; Pandian, M. R. & Lee, J. E.​ (2003)
    The American Journal of Human Genetics, 73(5) ​Annual Meeting of the American-Society-of-Human-Genetics​, LOS ANGELES, CALIFORNIA.
    Chicago​: Univ Chicago Press.
    ​Details  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia​
    Paznekas, W. A.; Boyadjiev, S. A.; Shapiro, R. E.; Daniels, O.; Wollnik, B. ; Keegan, C. E. & Innis, J. W. et al.​ (2003) 
    American journal of human genetics, 72(2) pp. 408​-418​.​ DOI: https://doi.org/10.1086/346090 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Conference Abstract
    ​ ​Action myoclonus-renal failure syndrome: Characterization of a novel autosomal recessive disease.​
    Badhwar, A.; Andermann, F.; Berkovic, S.; Carpenter, S.; Gonzales, M.; Dowling, J. & Brodtmann, A. et al.​ (2002)
    The American Journal of Human Genetics, 71(4) ​52nd Annual Meeting of the American-Society-of-Human-Genetics​, BALTIMORE, MARYLAND.
    Chicago​: Univ Chicago Press.
    ​Details  WoS 
  • 2002 | Conference Abstract
    ​ ​Generating mouse models for autosomal dominant hereditary Spastic Paraplegia Type 4 (SPG4).​
    Schickel, J.; Boensch, D.; Sudbrak, R.; Homanics, G. E.; Neesen, J. & Deufel, T.​ (2002)
    The American Journal of Human Genetics, 71(4) ​52nd Annual Meeting of the American-Society-of-Human-Genetics​, BALTIMORE, MARYLAND.
    Chicago​: Univ Chicago Press.
    ​Details  WoS 
  • 2002 | Journal Article
    ​ ​Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: Reassessing the nosology of early-onset myopathies​
    Ferreiro, A.; Quijano-Roy, S.; Pichereau, C.; Moghadaszadeh, B.; Goemans, N.; Bönnemann, C. & Jungbluth, H. et al.​ (2002) 
    The American Journal of Human Genetics, 71(4) pp. 739​-749​.​ DOI: https://doi.org/10.1086/342719 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Conference Abstract
    ​ ​The Townes-Brocks syndrome gene SALL1 is a transcriptional repressor and interacts with UBC9 and SUMO-1.​
    Kohlhase, J.; Rieger, L.; Bohlander, S. K. & Netzer, C.​ (2001)
    The American Journal of Human Genetics, 69(4) 
    Chicago​: Univ Chicago Press.
    ​Details  WoS 
  • 2001 | Conference Abstract
    ​ ​Altered recruitment of 26S proteasome subunits and chaperones into neuronal intranuclear Inclusions in SCA3.​
    Schmidt, T.; Lindenberg, K. S.; Krebs, A.; Schols, L.; Laccone, F. A.; Herms, J. & Riess, O. et al.​ (2001)
    The American Journal of Human Genetics, 69(4) 
    Chicago​: Univ Chicago Press.
    ​Details  WoS 
  • 2001 | Journal Article
    ​ ​MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin​
    Trappe, R.; Laccone, F. A.; Cobilanschi, J.; Meins, M.; Huppke, P.; Hanefeld, F. & Engel, W.​ (2001) 
    The American Journal of Human Genetics, 68(5) pp. 1093​-1101​.​ DOI: https://doi.org/10.1086/320109 
    ​Details  DOI  PMID  PMC  WoS 
  • 2000 | Conference Abstract
    ​ ​MECP2 analysis in possible familial Rett syndrome.​
    Gill, H. K.; Cheadle, J. P.; Maynard, J.; Fleming, N.; Kerr, A.; Leonard, H. & Thompson, E. M. et al.​ (2000)
    The American Journal of Human Genetics, 67(4) 
    Chicago​: Univ Chicago Press.
    ​Details  WoS 
  • 2000 | Journal Article
    ​ ​A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters​
    Laccone, F. A. & Christian, W.​ (2000) 
    The American Journal of Human Genetics, 66(3) pp. 1145​-1148​.​ DOI: https://doi.org/10.1086/302810 
    ​Details  DOI  PMID  PMC  WoS 
  • 1996 | Journal Article | 
    ​ ​Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man​
    Stockler, S.; Isbrandt, D.; Hanefeld, F.; Schmidt, B. & Figura, K. von​ (1996) 
    American Journal of Human Genetics, 58 pp. 914​-922​.​
    ​Details 
  • 1995 | Journal Article | Research Paper
    ​ ​Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes​
    Braun, A.; Ambach, H.; Kammerer, S.; Rolinski, B.; Stockler, S.; Rabl, W. & Gärtner, J.  et al.​ (1995) 
    American journal of human genetics, 56(4) pp. 854​-861​.​
    ​Details  PMID  PMC  WoS 

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