Associated Papers
Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 Deficiency.
Yorgun Altunbas M et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
Combined Genetic and Transcriptional Study Unveils the Role of DGAT1 Gene Mutations in Congenital Diarrhea.
Zeng J et al.
Biomedicines, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Gaibee Z et al.
The New England Journal of Medicine, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A novel nutritional approach to infants and children with congenital diarrhea due to homozygous DGAT1 mutations.
Millman P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.
Shi C et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Jiang X et al.
Journal of the American Heart Association, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM et al.
Gastroenterology, 2018
Advances in Evaluation of Chronic Diarrhea in Infants.
Thiagarajah JR et al.
Gastroenterology, 2018
DGAT1 mutation is linked to a congenital diarrheal disorder.
Haas JT et al.
The Journal of Clinical Investigation, 2012