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Author/Creator Castle, Bruce

1. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. Issue 11 (6th August 2013)

Authors:
Richards, Allan J; Fincham, Gregory S; McNinch, Annie; Hill, David; Poulson, Arabella V; Castle, Bruce; Lees, Melissa M; Moore, Anthony T; Scott, John D; Snead, Martin P
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 11(2013)
Page Start:
765
Record Type:
Journal Article
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4. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing. (3rd December 2017)

Authors:
Stals, Karen L.; Wakeling, Matthew; Baptista, Júlia; Caswell, Richard; Parrish, Andrew; Rankin, Julia; Tysoe, Carolyn; Jones, Garan; Gunning, Adam C.; Lango Allen, Hana; Bradley, Lisa; Brady, Angela F.; Carley, Helena; Carmichael, Jenny; Castle, Bruce; Cilliers, Deirdre; Cox, Helen; Deshpande, Ch...
Journal:
Prenatal diagnosis
Issue:
Volume 38:Number 1(2018)
Page Start:
33
Record Type:
Journal Article
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5. Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals. Issue 5 (31st January 2018)

Authors:
Owen, Ceris I.; Bowden, Ramsay; Parker, Michael J.; Patterson, Jo; Patterson, Joan; Price, Sue; Sarkar, Ajoy; Castle, Bruce; Deshpande, Charulatha; Splitt, Miranda; Ghali, Neeti; Dean, John; Green, Andrew J.; Crosby, Charlene; Tatton‐Brown, Katrina
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 5(2018)
Page Start:
1108
Record Type:
Journal Article
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7. Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity. Issue 1 (19th September 2020)

Authors:
Smith, Philip S.; West, Hannah; Whitworth, James; Castle, Bruce; Sansbury, Francis H.; Warren, Anne Y.; Woodward, Emma R.; Tischkowitz, Marc; Maher, Eamonn R.
Journal:
Genes, chromosomes & cancer
Issue:
Volume 60:Issue 1(2021)
Page Start:
5
Record Type:
Journal Article
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8. TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. Issue 9 (25th August 2018)

Authors:
Burren, Christine P.; Caswell, Richard; Castle, Bruce; Welch, C. Ross; Hilliard, Tom N.; Smithson, Sarah F.; Ellard, Sian
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 9(2018)
Page Start:
1950
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗