Publications by authors named "Christopher P Bennett"

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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Christopher P Bennett

Am J Hum Genet· November 2017

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Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates.
Ben N Mercer, Gordon A Begg, Stephen P Page, Christopher P Bennett, Muzahir H Tayebjee

Front Physiol· July 2016

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HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
Ronja Hollstein, David A Parry, Lisa Nalbach, Clare V Logan, Tim M Strom, Christopher P Bennett

J Med Genet· December 2015

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Christopher P Bennett

J Med Genet· October 2014

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The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.
Claire Searle, Lampros A Mavrogiannis, Christopher P Bennett, Ruth S Charlton

Genet Test Mol Biomarkers· May 2012

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Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Jeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, Lihadh Al-Gazali, Sophie Thomas, Christopher P Bennett

Science· February 2012

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Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss.
Soo Y Yoong, Lampros A Mavrogiannis, John Wright, Lesley Fairley, Christopher P Bennett

Arch Dis Child· September 2011

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Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
Sandeep Uppal, Christine P Diggle, Ian M Carr, Colin W G Fishwick, Mushtaq Ahmed, Christopher P Bennett

Nat Genet· June 2008

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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Rana Khaddour, Ursula Smith, Lekbir Baala, Jéléna Martinovic, Davina Clavering, Christopher P Bennett

Hum Mutat· May 2007

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The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Ursula M Smith, Mark Consugar, Louise J Tee, Brandy M McKee, Esther N Maina, Christopher P Bennett

Nat Genet· February 2006

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A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
Neil V Morgan, Paul Gissen, Saghira Malik Sharif, Laura Baumber, Joan Sutherland, Christopher P Bennett

Hum Genet· October 2002

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