Last Updated: 09/26/2026
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Found 25 publications
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.
Journal: Journal of investigative medicine high impact case reports
Published: May 31, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Journal: Journal of medical genetics
Published: October 21, 2021
Genetics of recurrent pregnancy loss: a review.
Journal: Current opinion in obstetrics & gynecology
Published: February 19, 2021
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 26, 2020
How geneticists think about Differences/Disorders of Sexual Development (DSD): A conversation.
Journal: Journal of pediatric urology
Published: May 26, 2020
Medical genetics education in the midst of the COVID-19 pandemic: Shared resources.
Journal: American journal of medical genetics. Part A
Published: March 30, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
Journal: The Journal of pediatrics
Published: March 02, 2020
Increasing the Participation of Pregnant Women in Clinical Trials.
Journal: JAMA
Published: November 14, 2018
Factor VIII and vWF deficiency in STT3A-CDG.
Journal: Journal of inherited metabolic disease
Published: September 20, 2018
Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: September 07, 2018
Last Updated: 09/26/2026