American Journal of Human Genetics, 0002-9297


  1. 2020
  2. 2019
  3. Dutch NIPT Consortium, van der Meij, K. R. M., Sistermans, E. A., Macville, M. V. E., Stevens, S. J. C., Bax, C. J., ... Weiss, M. M. (2019). TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. American Journal of Human Genetics, 105(6), 1091-1101.
  4. Haijes, H. A., Koster, M. J. E., Rehmann, H., Li, D., Hakonarson, H., Cappuccio, G., ... van Hasselt, P. M. (2019). De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. American Journal of Human Genetics, 105(2), 283-301.
  5. 23andMe Research Team, Ferreira, M. A. R., Mathur, R., Vonk, J. M., Szwajda, A., Brumpton, B., ... Almqvist, C. (2019). Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. American Journal of Human Genetics, 104(4), 665-684.
  6. 2018
  7. Boudin, E., de Jong, T. R., Prickett, T. C. R., Lapauw, B., Toye, K., Van Hoof, V., ... Mortier, G. R. (2018). Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities. American Journal of Human Genetics, 103(2), 288-295.
  8. Iuso, A., Wiersma, M., Schüller, H-J., Pode-Shakked, B., Marek-Yagel, D., Grigat, M., ... Anikster, Y. (2018). Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. American Journal of Human Genetics, 102(6), 1018-1030.
  9. Cameron-Christie, S. R., Wells, C. F., Simon, M., Wessels, M., Tang, C. Z. N., Wei, W., ... Robertson, S. P. (2018). Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. American Journal of Human Genetics, 102(6), 1115-1125.
  10. Sung, Y. J., Winkler, T. W., de Las Fuentes, L., Bentley, A. R., Brown, M. R., Kraja, A. T., ... CHARGE Neurology Working Group (2018). A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. American Journal of Human Genetics, 102(3), 375-400.
  11. 2017
  12. Falkenberg, K. D., Braverman, N. E., Moser, A. B., Steinberg, S. J., Klouwer, F. C. C., Schluter, A., ... Waterham, H. R. (2017). Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. American Journal of Human Genetics, 101(6), 965-976.
  13. Lessel, D., Schob, C., Kuery, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., ... C4RCD Research Group (2017). De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics, 101(5), 716-724.
  14. Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., ... Deciphering Developmental Disorders Study (2017). High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics, 101(5), 664-685.
  15. Stankiewicz, P., Khan, T. N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., ... Deciphering Developmental Disorders Study (2017). Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American Journal of Human Genetics, 101(4), 503-515.
  16. Vermeulen, C., Geeven, G., de Wit, E., Verstegen, M. J. A. M., Jansen, R. P. M., van Kranenburg, M., ... de Laat, W. (2017). Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping. American Journal of Human Genetics, 101(3), 326-339.
  17. Carmona, F. D., Vaglio, A., Mackie, S. L., Hernández-Rodríguez, J., Monach, P. A., Castañeda, S., ... Spanish CGA Group (2017). A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis. American Journal of Human Genetics, 100(1), 64-74.
  18. 2016
  19. Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., ... Robertson, S. P. (2016). Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. American Journal of Human Genetics, 99(2), 392-406.
  20. Joubert, B. R., Felix, J. F., Yousefi, P., Bakulski, K. M., Just, A. C., Breton, C., ... London, S. J. (2016). DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis. American Journal of Human Genetics, 98(4), 680-696.
  21. Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., ... Kleefstra, T. (2016). Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American Journal of Human Genetics, 98(3), 541-552.
  22. Jansen, J. C., Cirak, S., Van Scherpenzeel, M., Timal, S., Reunert, J., Rust, S., ... Lefeber, D. J. (2016). CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. American Journal of Human Genetics, 98(2), 310-321.
  23. 2015
  24. Massink, M. P. G., Creton, M. A., Spanevello, F., Fennis, W. M. M., Cune, M. S., Savelberg, S. M. C., ... van Haaften, G. (2015). Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. American Journal of Human Genetics, 97(4), 621-626.
  25. Meester, J. A. N., Southgate, L., Stittrich, A-B., Venselaar, H., Beekmans, S. J. A., den Hollander, N., ... Wuyts, W. (2015). Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. American Journal of Human Genetics, 97(3), 475-482.
  26. 2014
  27. Tragante, V., Barnes, M. R., Ganesh, S. K., Lanktree, M. B., Guo, W., Franceschini, N., ... Keating, B. J. (2014). Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. American Journal of Human Genetics, 94(3), 349-360.
  28. Mayes, M. D., Bossini-Castillo, L., Gorlova, O., Martin, J. E., Zhou, X., Chen, W. V., ... Spanish Scleroderma Grp (2014). Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis. American Journal of Human Genetics, 94(1), 47-61.
  29. 2013
  30. Hu, Y-J., Berndt, S. I., Gustafsson, S., Ganna, A., Hirschhorn, J., North, K. E., ... Genetic Investigation of Anthropometric Traits (GIANT) consortium (2013). Meta-analysis of gene-level associations for rare variants based on single-variant statistics. American Journal of Human Genetics, 93(2), 236-48.
  31. Neveling, K., Martinez-Carrera, L. A., Hoelker, I., Heister, A., Verrips, A., Hosseini-Barkooie, S. M., ... Wirth, B. (2013). Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy. American Journal of Human Genetics, 92(6), 946-954.
  32. Taft, R. J., Vanderver, A., Leventer, R. J., Damiani, S. A., Simons, C., Grimmond, S. M., ... Wolf, N. I. (2013). Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity. American Journal of Human Genetics, 92(5), 774-780.
Previous 1 2 3 4 Next

ID: 2424340