Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 38 publications
Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.
Journal: American journal of human genetics
Published: January 29, 2026
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder.
Journal: American journal of medical genetics. Part A
Published: April 10, 2025
Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses.
Journal: American journal of medical genetics. Part A
Published: December 11, 2024
Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report.
Journal: Case reports in genetics
Published: November 14, 2024
Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies.
Journal: HGG advances
Published: October 01, 2024
Evaluation for genetic disease in kidney transplant candidates: A practice resource.
Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
Published: August 17, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: May 09, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: March 20, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Journal: NPJ genomic medicine
Published: August 16, 2023
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2023
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: April 06, 2023
Last Updated: 09/26/2026