Bruce Castle

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.

Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.

Journal: Ophthalmology

Published: July 01, 2022

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

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

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity.

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity.

Journal: Genes, chromosomes & cancer

Published: June 05, 2020

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

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.

Journal: American journal of medical genetics. Part A

Published: April 16, 2018

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Journal: Prenatal diagnosis

Published: September 28, 2017

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Journal: American journal of medical genetics. Part A

Published: September 12, 2017

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Journal: Journal of medical genetics

Published: August 08, 2013

Anomalous ovarian morphology in a patient with craniofrontonasal syndrome.

Anomalous ovarian morphology in a patient with craniofrontonasal syndrome.

Journal: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology

Published: April 05, 2013

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

Journal: American journal of medical genetics. Part A

Published: November 28, 2012

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

Journal: Cilia

Published: March 28, 2012

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Journal: European journal of human genetics : EJHG

Published: December 01, 2011

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Last Updated: 09/26/2026