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Journal of the American Society of Nephrology : JASN|March 30, 2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic DiagnosisDina F Ahram, Tze Y Lim, Juntao Ke, et al.Scientific Data|August 16, 2022
Fundamental social motives measured across forty-two cultures in two wavesCari M Pick, Ahra Ko, Douglas T Kenrick, et al.Nature Genetics|September 29, 2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsySheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, et al.Science Advances|July 14, 2023
Abundant presolar grains and primordial organics preserved in carbon-rich exogenous clasts in asteroid RyuguAnn N Nguyen, Prajkta Mane, Lindsay P Keller, et al.Science (New York, N.Y.)|December 20, 2022
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in childrenDanyel Lee, Jérémie Le Pen, Ahmad Yatim, et al.American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.Nature Communications|August 7, 2025
Exome analysis links kidney malformations to developmental disorders and reveals causal genesHila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, et al.American Journal of Human Genetics|September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract MalformationsDervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.Nature Genetics|August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, et al.Science Immunology|August 20, 2021
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19Takaki Asano, Bertrand Boisson, Fanny Onodi, et al.Pageof 166