Last Updated: 09/26/2026
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Found 18 publications
OSTM1 is a ubiquitin E3 ligase that suppresses B-cell malignancy by activating the cAMP/PKA/CREB pathway.
Journal: bioRxiv : the preprint server for biology
Published: February 09, 2026
Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: March 21, 2025
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
Journal: Frontiers in molecular neuroscience
Published: May 15, 2023
Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.
Journal: American journal of medical genetics. Part A
Published: June 30, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 22, 2021
A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism.
Journal: American journal of medical genetics. Part A
Published: September 09, 2021
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 22, 2021
Identical twins with progressive kyphoscoliosis and ophthalmoplegia: Expert commentary.
Journal: Parkinsonism & related disorders
Published: May 19, 2021
Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: May 13, 2021
Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.
Journal: International journal of neonatal screening
Published: September 25, 2020
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 29, 2020
Last Updated: 09/26/2026