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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.Nature Genetics|May 1, 2026
High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemiaMasanori Yoshida, Sushree S Sahoo, Paula Y Arnold, et al.American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.Brain : a Journal of Neurology|March 19, 2015
CHD2 variants are a risk factor for photosensitivity in epilepsyElizabeth C Galizia, Candace T Myers, Costin Leu, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centersRashesh V Sanghvi, Christian J Buhay, Bradford C Powell, et al.Plos Genetics|December 1, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delaySusan M Hiatt, Matthew B Neu, Ryne C Ramaker, et al.American Journal of Human Genetics|December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismFrederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, et al.Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.Pageof 38