Last Updated: 09/26/2026
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Found 38 publications
Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.
Journal: Journal of neurodevelopmental disorders
Published: February 02, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: January 13, 2026
Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.
Journal: Molecular psychiatry
Published: January 07, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
Journal: Human molecular genetics
Published: November 07, 2025
Domain specific phenotypic expansion associated with variants in MACF1.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.
Journal: Molecular psychiatry
Published: November 15, 2024
Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.
Journal: Genetics in medicine open
Published: May 22, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: April 23, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 21, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: February 26, 2024
A Comprehensive Examination of Clinical Characteristics and Determinants of Long-Term Outcomes in Pediatric Cerebral Sinus Venous Thrombosis.
Journal: Pediatric neurology
Published: December 17, 2023
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 07, 2023
Last Updated: 09/26/2026