Last Updated: 09/26/2026
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Found 38 publications
Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report.
Journal: American journal of medical genetics. Part A
Published: February 21, 2026
Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female.
Journal: Molecular genetics and metabolism reports
Published: May 20, 2025
A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia.
Journal: Molecular genetics & genomic medicine
Published: December 18, 2024
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Journal: American journal of human genetics
Published: May 03, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Journal: medRxiv : the preprint server for health sciences
Published: January 23, 2024
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.
Journal: European journal of medical genetics
Published: November 13, 2023
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 11, 2023
Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.
Journal: Multiple sclerosis (Houndmills, Basingstoke, England)
Published: May 25, 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Journal: American journal of human genetics
Published: February 23, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Journal: European journal of human genetics : EJHG
Published: February 08, 2023
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Journal: Cold Spring Harbor molecular case studies
Published: September 16, 2022
Last Updated: 09/26/2026