Last Updated: 09/26/2026
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Found 26 publications
Novel cardiac findings in a patient with ASPM-related primary microcephaly.
Journal: Clinical dysmorphology
Published: December 31, 2025
SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.
Journal: American journal of medical genetics. Part A
Published: July 07, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: May 09, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: March 20, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Journal: medRxiv : the preprint server for health sciences
Published: February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Journal: Nature communications
Published: August 09, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Journal: Brain : a journal of neurology
Published: April 11, 2023
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2023
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: April 06, 2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: January 26, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 20, 2022
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Journal: Brain : a journal of neurology
Published: August 29, 2022
Last Updated: 09/26/2026