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American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.Nature|July 3, 2025
The Somatic Mosaicism across Human Tissues NetworkTim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.Nature Neuroscience|April 5, 2022
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalusPhan Q Duy, Stefan C Weise, Claudia Marini, et al.Neuron|June 11, 2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autismStephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, et al.Nature Genetics|August 13, 2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs, S Hong Lee, Stephan Ripke, et al.Pageof 41