Kathleen A. Williamson

Edinburgh, SCT, United Kingdom

Last Updated: 09/26/2026

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Found 20 publications

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Journal: Journal of medical genetics

Published: March 12, 2023

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 08, 2019

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 24, 2019

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Journal: Journal of medical genetics

Published: October 25, 2018

The genetic architecture of aniridia and Gillespie syndrome.

The genetic architecture of aniridia and Gillespie syndrome.

Journal: Human genetics

Published: January 28, 2018

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.

Journal: BMC pediatrics

Published: January 27, 2018

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Journal: Nature genetics

Published: May 27, 2017

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

Journal: Human mutation

Published: February 14, 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Journal: Nature genetics

Published: June 15, 2016

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Journal: American journal of medical genetics. Part A

Published: February 08, 2016

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Journal: American journal of human genetics

Published: November 16, 2015

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Journal: PloS one

Published: November 12, 2015

Showing 1-12 of 20

Last Updated: 09/26/2026