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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinicsHadley Stevens Smith, Rachel Franciskovich, Andrea M Lewis, et al.
American Journal of Medical Genetics. Part A|December 29, 2019
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONOMaham Sewani, Kimberly Nugent, Patrick R Blackburn, et al.
JCO Precision Oncology|September 11, 2024
Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer StudyLauren R Desrosiers-Battu, Tao Wang, Jacquelyn Reuther, et al.
Neurology. Genetics|February 12, 2020
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathyKatrine M Johannesen, Diana Mitter, Robert Janowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: 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.
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.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
American Journal of Human Genetics|April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityElke Bogaert, Aurore Garde, Thierry Gautier, et al.
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