Publications by authors named "Bruce Castle"

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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Samar Yahya, Claire E L Smith, James A Poulter, Martin McKibbin, Gavin Arno, Alison J Hardcastle, Bruce Castle

Ophthalmology· January 2023

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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Bruce Castle

Genet Med· June 2022

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Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity.
Philip S Smith, Hannah West, James Whitworth, Bruce Castle, Francis H Sansbury

Genes Chromosomes Cancer· January 2021

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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Kathleen A Williamson, H Nikki Hall, Liusaidh J Owen, Benjamin J Livesey, Isabel M Hanson, Bruce Castle

Genet Med· March 2020

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TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.
Christine P Burren, Richard Caswell, Bruce Castle, C Ross Welch, Tom N Hilliard

Am J Med Genet A· September 2018

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Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Ceris I Owen, Ramsay Bowden, Michael J Parker, Jo Patterson, Joan Patterson, Bruce Castle

Am J Med Genet A· May 2018

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Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Karen L Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Bruce Castle

Prenat Diagn· January 2018

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Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
Margriet van Kogelenberg, Alice R Clark, Zandra Jenkins, Tim Morgan, Ananda Anandan, Bruce Castle

J Mol Med (Berl)· July 2015

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Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
Allan J Richards, Gregory S Fincham, Annie McNinch, David Hill, Arabella V Poulson, Bruce Castle

J Med Genet· November 2013

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Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
Julia Rankin, John Short, Peter Turnpenny, Bruce Castle, C Oliver Hanemann

Am J Med Genet A· August 2013

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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
Katarzyna Szymanska, Ian Berry, Clare V Logan, Simon Rr Cousins, Helen Lindsay, Bruce Castle

Cilia· October 2012

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Bruce Castle

Eur J Hum Genet· April 2012

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Resolution of left ventricular and asymmetric septal hypertrophy after resection of left ventricular outflow obstruction in a patient with troponin-positive hypertrophic obstructive cardiomyopathy: a case report.
Sreekanth Narsupalli, Bruce Castle, Gruschen Veldtman

Cardiol Young· October 2010

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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Claire Louise Susan Turner, Deborah M Mackay, Jonathan L A Callaway, Louise E Docherty, Rebecca L Poole, Bruce M Castle

Eur J Hum Genet· June 2010

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ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Astrid S Plomp, Ralph J Florijn, Jacoline Ten Brink, Bruce Castle, Helen Kingston

Mol Vis· January 2008

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Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.
John C K Barber, Viv K Maloney, Maria Kirchhoff, N Simon Thomas, Tracy A Boyle, Bruce Castle

Am J Med Genet A· March 2007

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SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.
N Simon Thomas, Viv Maloney, Paul Bass, Varsha Mulik, Diana Wellesley, Bruce Castle

Am J Med Genet A· July 2004

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