Last Updated: 09/26/2026
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Found 57 publications
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Journal: American journal of human genetics
Published: February 12, 2026
Response to Sansom et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 01, 2025
Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.
Journal: American journal of medical genetics. Part A
Published: October 03, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Journal: American journal of human genetics
Published: April 07, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.
Journal: Genes
Published: December 19, 2024
How Neonatologists Use Genetic Information.
Journal: The Journal of pediatrics
Published: December 13, 2024
Parents' perceptions of the utility of genetic testing in the NICU.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 11, 2024
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.
Journal: American journal of medical genetics. Part A
Published: June 25, 2024
Expanding the clinical phenotype and variant spectrum associated with RFX7.
Journal: American journal of medical genetics. Part A
Published: April 19, 2024
Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
Journal: American journal of medical genetics. Part A
Published: February 21, 2024
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Journal: Human genetics
Published: November 22, 2023
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Journal: American journal of human genetics
Published: November 01, 2023
Last Updated: 09/26/2026