The American Journal of Human Genetics

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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 
    ​Details  DOI  PMID  PMC 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI  PMID  PMC 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI  PMID  PMC 
  • 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 
    ​Details  DOI  PMID  PMC 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 

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