Last Updated: 09/26/2026
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Found 160 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
De Novo 2.2 Mb 19q13.42-q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model.
Journal: American journal of medical genetics. Part A
Published: March 23, 2026
Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers.
Journal: American journal of medical genetics. Part A
Published: December 19, 2025
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.
Journal: Clinical genetics
Published: December 09, 2025
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.
Journal: American journal of medical genetics. Part A
Published: September 29, 2025
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.
Journal: American journal of medical genetics. Part A
Published: September 18, 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
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
Journal: eLife
Published: August 27, 2025
Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Journal: medRxiv : the preprint server for health sciences
Published: June 26, 2025
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Journal: American journal of human genetics
Published: May 15, 2025
Last Updated: 09/26/2026