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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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.Cell|April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundariesMichael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.Nature|October 29, 2020
Strategic vision for improving human health at The Forefront of GenomicsEric D Green, Chris Gunter, Leslie G Biesecker, et al.Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.American Journal of Medical Genetics. Part A|December 20, 2016
Down syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Andrew K Sobering, et al.American Journal of Medical Genetics. Part A|September 28, 2020
Rubinstein-Taybi syndrome in diverse populationsCedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 7, 2008
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorderKaixin Zhou, Astrid Dempfle, Mauricio Arcos-Burgos, et al.American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.Pageof 29