Last Updated: 09/26/2026
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Found 15 publications
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: medRxiv : the preprint server for health sciences
Published: March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: medRxiv : the preprint server for health sciences
Published: March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: American journal of human genetics
Published: February 15, 2026
Progressive spasticity and developmental delay in an infant with a CTNNB1 mutation.
Journal: BMJ case reports
Published: June 13, 2024
Complex genomic rearrangements of the Y chromosome in a premature infant.
Journal: Molecular cytogenetics
Published: April 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Journal: HGG advances
Published: January 23, 2024
Health Supervision for Children and Adolescents With Down Syndrome.
Journal: Pediatrics
Published: May 01, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 18, 2021
Peripartum management of patient with long QT3 after successful implantable cardioverter defibrillator device discharge resulting in device failure: a case report.
Journal: European heart journal. Case reports
Published: July 27, 2021
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Journal: American journal of medical genetics. Part A
Published: April 21, 2021
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Journal: Molecular genetics and metabolism
Published: November 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