Last Updated: 09/26/2026
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Found 14 publications
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
Journal: Molecular genetics and metabolism
Published: June 21, 2023
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 26, 2019
Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child.
Journal: Journal of pediatric hematology/oncology
Published: February 22, 2019
ALG11-CDG syndrome: Expanding the phenotype.
Journal: American journal of medical genetics. Part A
Published: October 13, 2018
When moments matter: Finding answers with rapid exome sequencing.
Journal: Molecular genetics & genomic medicine
Published: August 06, 2018
Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations.
Journal: BMJ case reports
Published: February 02, 2018
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Journal: Molecular genetics and metabolism
Published: June 07, 2017
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
Journal: American journal of medical genetics. Part A
Published: October 06, 2016
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 02, 2014
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
Journal: European journal of human genetics : EJHG
Published: September 12, 2014
Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.
Journal: Gene
Published: August 29, 2014
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
Journal: Molecular genetics and metabolism
Published: September 05, 2013
Last Updated: 09/26/2026