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American Journal of Human Genetics|October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.
American Journal of Human Genetics|February 19, 2019
Hypomorphic Mutations in TONSL Cause SPONASTRIME DysplasiaHae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, et al.
Annals of Neurology|September 1, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathyYongjin Yoo, Jane Jung, Yoo-Na Lee, et al.
Nature|April 13, 2012
De novo mutations revealed by whole-exome sequencing are strongly associated with autismStephan J Sanders, Michael T Murtha, Abha R Gupta, et al.
Neuron|March 15, 2020
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different MechanismsHyung-Lok Chung, Michael F Wangler, Paul C Marcogliese, et al.
Plos One|August 1, 2012
Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filterTobias Åkerström, Joakim Crona, Alberto Delgado Verdugo, et al.
Cancer Discovery|June 13, 2015
Co-occurring genomic alterations define major subsets of KRAS-mutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilitiesFerdinandos Skoulidis, Lauren A Byers, Lixia Diao, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 30, 2016
Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transitionSiming Zhao, Stefania Bellone, Salvatore Lopez, et al.
Nature Genetics|March 15, 2011
Genome-wide association study identifies susceptibility loci for IgA nephropathyAli G Gharavi, Krzysztof Kiryluk, Murim Choi, et al.
The Journal of Clinical Investigation|November 26, 2013
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionShazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al.
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