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The American Journal of Psychiatry|July 29, 2017
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion SyndromeAnne S Bassett, Chelsea Lowther, Daniele Merico, et al.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.Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, et al.Circulation. Cardiovascular Genetics|October 14, 2017
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3Tingwei Guo, Gabriela M Repetto, Donna M McDonald McGinn, et al.The New England Journal of Medicine|June 30, 2020
Multisystem Inflammatory Syndrome in U.S. Children and AdolescentsLeora R Feldstein, Erica B Rose, Steven M Horwitz, et al.Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.American Journal of Human Genetics|December 25, 2019
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart DefectsYingjie Zhao, Alexander Diacou, H Richard Johnston, et al.Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Combinatorial effects of gene dosage, polygenic background and environment on complex traitsMolly F Sacks, Marieke Klein, Tim B Bigdeli, et al.American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.Pageof 63