Emma Hobson
Leeds, ENG LS74SA, United Kingdom
Last Updated: 09/26/2026
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Found 34 publications
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 13, 2025
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 18, 2025
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.
Journal: European journal of human genetics : EJHG
Published: April 19, 2024
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Journal: Nature communications
Published: September 01, 2023
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Journal: American journal of human genetics
Published: August 06, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Journal: American journal of human genetics
Published: May 30, 2023
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Journal: Clinical genetics
Published: September 06, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Journal: European journal of human genetics : EJHG
Published: March 10, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 09, 2021
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Journal: American journal of medical genetics. Part A
Published: March 03, 2021
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 20, 2020
Last Updated: 09/26/2026