Debbie Shears
Oxford, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Laparoscopic excision of a large prostatic utricle in an infant with 46,xx Sry-negative differences of sex development: a case report.
Journal: Journal of surgical case reports
Published: May 24, 2026
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Journal: Genetics in medicine open
Published: November 14, 2023
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
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 26, 2023
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 30, 2022
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 21, 2019
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 10, 2018
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
Journal: American journal of medical genetics. Part A
Published: October 27, 2015
Reclassification of diabetes etiology in a family with multiple diabetes phenotypes.
Journal: The Journal of clinical endocrinology and metabolism
Published: March 11, 2014
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
Journal: American journal of medical genetics. Part A
Published: March 12, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026