Joanna Jarvis
Birmingham, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 13 publications
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.
Journal: medRxiv : the preprint server for health sciences
Published: September 16, 2024
A tandem duplication of exon 42 of the DMD gene is a likely benign variant.
Journal: Journal of medical genetics
Published: May 31, 2024
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Journal: Science advances
Published: May 01, 2023
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Journal: American journal of medical genetics. Part A
Published: May 26, 2021
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Journal: American journal of human genetics
Published: July 01, 2020
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Journal: Frontiers in genetics
Published: February 13, 2019
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.
Journal: American journal of medical genetics. Part A
Published: March 21, 2013
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Journal: European journal of human genetics : EJHG
Published: November 09, 2012
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.
Journal: American journal of medical genetics. Part A
Published: October 12, 2011
Last Updated: 09/26/2026