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American Journal of Human Genetics|February 7, 2015
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formationSilvia E Racedo, Donna M McDonald-McGinn, Jonathan H Chung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing dataTrevor J Pugh, Sami S Amr, Mark J Bowser, et al.
Archives of Pathology & Laboratory Medicine|January 13, 2026
Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome SequencingRyan J Schmidt, Birgit Funke, Ann King, et al.
Neurogenetics|August 11, 2006
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndromeJeffrey M Long, Patricia LaPorte, Sandra Merscher, et al.
The Journal of Urology|June 20, 2014
DNA copy number variations in patients with 46,XY disorders of sex developmentSteven M Harrison, Candace F Granberg, Melise Keays, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
The Journal of Urology|November 26, 2011
Genetic basis of prune belly syndrome: screening for HNF1β geneCandace F Granberg, Steven M Harrison, Daniel Dajusta, et al.
American Journal of Medical Genetics. Part A|December 28, 2018
Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlationsTova Hershkovitz, Alina Kurolap, Noa Ruhrman-Shahar, et al.
Journal of Genetic Counseling|January 4, 2023
Elective genomic testing: Practice resource of the National Society of Genetic CounselorsCarrie L Blout Zawatsky, David Bick, Louise Bier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
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