Last Updated: 09/26/2026
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Found 18 publications
Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders.
Journal: Frontiers in pharmacology
Published: April 16, 2025
The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 01, 2025
Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 20, 2022
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 27, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Journal: American journal of human genetics
Published: January 08, 2021
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 18, 2020
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Journal: European journal of human genetics : EJHG
Published: November 09, 2020
The Impact of Direct-to-Consumer Genetic Testing on Patient and Provider.
Journal: Clinics in laboratory medicine
Published: February 04, 2020
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Journal: American journal of medical genetics. Part A
Published: February 21, 2019
Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome.
Journal: Journal of human genetics
Published: May 23, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 07, 2017
Last Updated: 09/26/2026