Last Updated: 09/26/2026
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Found 124 publications
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.
Journal: Clinical genetics
Published: May 27, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.
Journal: Clinical genetics
Published: May 12, 2026
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.
Journal: Clinical genetics
Published: January 06, 2026
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.
Journal: Clinical genetics
Published: December 09, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.
Journal: Developmental biology
Published: September 19, 2025
New genotype-phenotype correlations and management recommendations for individuals with RERE variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 15, 2025
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 12, 2025
SPEN deficiency contributes to the development of orofacial clefts in humans and mice.
Journal: Human molecular genetics
Published: June 10, 2025
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
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Journal: European journal of human genetics : EJHG
Published: April 02, 2025
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Journal: Clinical genetics
Published: March 27, 2025
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
Journal: American journal of human genetics
Published: March 05, 2025
Last Updated: 09/26/2026