Last Updated: 09/26/2026
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Found 146 publications
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: March 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: March 27, 2026
Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associations.
Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: September 05, 2025
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.
Journal: Human molecular genetics
Published: August 29, 2025
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Journal: Nature genetics
Published: August 21, 2025
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Journal: American journal of human genetics
Published: August 08, 2025
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.
Journal: American journal of medical genetics. Part A
Published: July 14, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Journal: Annals of neurology
Published: May 11, 2025
Last Updated: 09/26/2026