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Plos Genetics|June 28, 2012
Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysisKrzysztof Kiryluk, Yifu Li, Simone Sanna-Cherchi, et al.Science (New York, N.Y.)|January 26, 2013
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMOVictoria E Clark, E Zeynep Erson-Omay, Akdes Serin, et al.The New England Journal of Medicine|July 19, 2013
Mutations in DSTYK and dominant urinary tract malformationsSimone Sanna-Cherchi, Rosemary V Sampogna, Natalia Papeta, et al.Orphanet Journal of Rare Diseases|October 8, 2022
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructureSoo Yeon Kim, Seungbok Lee, Hyewon Woo, et al.Genetics in Medicine Open|June 5, 2025
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.Nature|May 14, 2013
De novo mutations in histone-modifying genes in congenital heart diseaseSamir Zaidi, Murim Choi, Hiroko Wakimoto, et al.Nature|January 24, 2012
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalitiesLynn M Boyden, Murim Choi, Keith A Choate, et al.Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.Nature Communications|January 8, 2024
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiationAndrea Accogli, Saurabh Shakya, Taewoo Yang, et al.Pageof 18