Last Updated: 09/26/2026
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Found 56 publications
Gillespie syndrome caused by a novel ITPR1 gene variant: a phenotype-genotype correlation.
Journal: Ophthalmic genetics
Published: June 01, 2026
Targeted Treatment With Alpelisib for Papillary Intralymphatic Angioendothelioma Associated With Somatic PIK3CA Mosaicism.
Journal: Pediatric blood & cancer
Published: June 16, 2025
Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families.
Journal: American journal of medical genetics. Part A
Published: September 06, 2024
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Journal: American journal of human genetics
Published: July 24, 2024
Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.
Journal: Pediatric neurosurgery
Published: April 15, 2024
Congenital Disorder of Glycosylation in a Child with Macrosomia.
Journal: Clinical chemistry
Published: May 30, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Journal: Brain : a journal of neurology
Published: August 26, 2022
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.
Journal: Psychiatric genetics
Published: July 15, 2022
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 01, 2022
GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
Journal: The Journal of clinical investigation
Published: March 02, 2022
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.
Journal: American journal of medical genetics. Part A
Published: June 17, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 23, 2021
Last Updated: 09/26/2026