Last Updated: 09/26/2026
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Found 18 publications
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.
Journal: Molecular genetics and metabolism reports
Published: April 12, 2024
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
Journal: JAMA pediatrics
Published: September 27, 2021
Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
Journal: Frontiers in genetics
Published: August 31, 2021
Kagami-Ogata Syndrome: Case Series and Review of Literature.
Journal: AJP reports
Published: December 28, 2020
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Journal: Journal of inherited metabolic disease
Published: November 18, 2020
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Journal: American journal of medical genetics. Part A
Published: July 22, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Journal: Human mutation
Published: May 31, 2019
Neonatal Hospital Course and Outcomes of Live-born Infants with Trisomy 18 at Two Tertiary Care Centers in the United States.
Journal: American journal of perinatology
Published: August 05, 2016
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Journal: American journal of human genetics
Published: May 22, 2015
Last Updated: 09/26/2026