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Journal of Medical Genetics|September 20, 2015
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromesMay Christine V Malicdan, Thierry Vilboux, Joshi Stephen, et al.Genes and Immunity|January 13, 2019
Mother-child histocompatibility and risk of rheumatoid arthritis and systemic lupus erythematosus among mothersGiovanna I Cruz, Xiaorong Shao, Hong Quach, et al.American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.Nature Communications|September 18, 2020
A systematic review of antibody mediated immunity to coronaviruses: kinetics, correlates of protection, and association with severityAngkana T Huang, Bernardo Garcia-Carreras, Matt D T Hitchings, et al.Science Immunology|July 23, 2017
Helicobacter species are potent drivers of colonic T cell responses in homeostasis and inflammationJiani N Chai, Yangqing Peng, Sunaina Rengarajan, et al.American Journal of Human Genetics|August 19, 2014
Mutations in NOTCH1 cause Adams-Oliver syndromeAnna-Barbara Stittrich, Anna Lehman, Dale L Bodian, et al.American Journal of Medical Genetics. Part A|May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical GeneticsBenjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.American Journal of Human Genetics|December 30, 2019
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital MalformationsJoel J Hughes, Ebba Alkhunaizi, Paul Kruszka, et al.Journal of Child Psychology and Psychiatry, and Allied Disciplines|March 16, 2017
Young adult outcomes in the follow-up of the multimodal treatment study of attention-deficit/hyperactivity disorder: symptom persistence, source discrepancy, and height suppressionJames M Swanson, L Eugene Arnold, Brooke S G Molina, et al.Pageof 29