Last Updated: 09/26/2026
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Found 20 publications
Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long-chain fatty acid oxidation disorders: FDA approval summary.
Journal: Journal of inherited metabolic disease
Published: March 17, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Journal: American journal of medical genetics. Part A
Published: September 28, 2020
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
Journal: American journal of medical genetics. Part A
Published: December 17, 2019
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
Journal: American journal of human genetics
Published: May 12, 2016
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Journal: Cold Spring Harbor molecular case studies
Published: May 06, 2016
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Journal: American journal of medical genetics. Part A
Published: June 23, 2015
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.
Journal: American journal of medical genetics. Part A
Published: February 12, 2015
An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.
Journal: Molecular genetics and metabolism reports
Published: October 10, 2014
Malignancy in Noonan syndrome and related disorders.
Journal: Clinical genetics
Published: August 01, 2014
Severe neonatal holocarboxylase synthetase deficiency in west african siblings.
Journal: JIMD reports
Published: July 14, 2014
Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.
Journal: Molecular genetics and metabolism reports
Published: March 03, 2014
Hierarchical constrained local model using ICA and its application to Down syndrome detection.
Journal: Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention
Published: March 01, 2014
Last Updated: 09/26/2026