Last Updated: 09/26/2026
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Found 155 publications
Revertant Mosaicism Obscures Long-Awaited Molecular Confirmation of Diamond-Blackfan Anemia.
Journal: American journal of medical genetics. Part A
Published: April 10, 2026
Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome.
Journal: Pediatric blood & cancer
Published: February 03, 2026
Impact of Hereditary Cancer Susceptibility in Solid-Organ Transplant Recipients.
Journal: JCO precision oncology
Published: January 23, 2026
Losartan shows limited benefit in preclinical models of Geleophysic dysplasia.
Journal: Scientific reports
Published: December 07, 2025
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis.
Journal: Journal of medical genetics
Published: September 25, 2025
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Journal: Nature genetics
Published: August 26, 2025
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.
Journal: American journal of medical genetics. Part A
Published: August 11, 2025
Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.
Journal: Biochemical genetics
Published: July 11, 2025
Distal enhancer-insulator module of GDF6 is essential for cochlear formation.
Journal: JCI insight
Published: May 09, 2025
Glucocorticoid treatment rescues early lethality in a mouse model of geleophysic dysplasia.
Journal: Communications biology
Published: April 09, 2025
Last Updated: 09/26/2026