Last Updated: 09/26/2026
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Found 20 publications
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
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: July 26, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: February 03, 2024
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 16, 2022
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Journal: Journal of molecular medicine (Berlin, Germany)
Published: October 18, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 30, 2021
Expanding the KIF4A-associated phenotype.
Journal: American journal of medical genetics. Part A
Published: May 23, 2021
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Journal: Journal of molecular medicine (Berlin, Germany)
Published: March 12, 2021
Asynchronous telemedicine for clinical genetics consultations in the NICU: a single center's solution.
Journal: Journal of perinatology : official journal of the California Perinatal Association
Published: January 08, 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Journal: European journal of human genetics : EJHG
Published: November 09, 2020
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Journal: American journal of medical genetics. Part A
Published: September 28, 2020
Last Updated: 09/26/2026