C. Bennett

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.

D. Betts, C. Bennett, M. Seller, 1991, Journal of medical genetics.

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.

C. Bennett, J. Hourihane, S. Robb, 1993, Neuropediatrics.

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

R. Hevner, W. Hickey, J. Kilday, 2014, The Journal of pathology.

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

W. Reardon, R. Hennekam, H. Cavé, 2005, Journal of Medical Genetics.

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.

J. Burn, L. Brueton, E. Gatto, 1995, American journal of human genetics.

Deletion 9p and sex reversal.

Z. Docherty, C. Bennett, S. Robb, 1993, Journal of medical genetics.

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

D. Bonthron, T. Wieland, T. Strom, 2015, Journal of Medical Genetics.

The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.

C. Bennett, R. Charlton, C. Searle, 2012, Genetic testing and molecular biomarkers.

Duplication involving band 4q32 with minimal clinical effect.

E. Maltby, C. Bennett, I. Barnes, 1999, American journal of medical genetics.

Camurati-Engelmann Disease : review of the clinical , radiological and molecular data of 24 families and implications towards diagnostics and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005 .

Recurrence of umbilical cord haematoma in a sibling

C. Bennett, R. Brown, 1993 .

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Eamonn Sheridan, Mushtaq Ahmed, Stella Zhang, 2016, Journal of Medical Genetics.

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

D. Bonthron, C. Fishwick, A. Latos-Bieleńska, 2008, Nature Genetics.

Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss

John Wright, N. Spencer, C. Bennett, 2011, Archives of Disease in Childhood.

Early-onset Lafora body disease.

S. Scherer, C. Ackerley, Peixiang Wang, 2012, Brain : a journal of neurology.

Progressive myoclonus epilepsy with polyglucosans (Lafora disease)

S. Scherer, B. Minassian, M. Ahmed, 2004, Neurology.

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

D. Mackey, R. Newbury-Ecob, A. Markham, 2001, Human molecular genetics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

J. Thompson, Y. Crow, N. Lench, 2001, Journal of medical genetics.

A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255.

C. Mathew, A. Barnicoat, F. Cotter, 1995, Journal of medical genetics.

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

Colin A. Johnson, R. Trembath, V. Torres, 2006, Nature Genetics.

Trisomy 15 mosaicism in an IVF fetus.

C. Bennett, M. Seller, T. Davis, 1992, Journal of medical genetics.

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Daniel S. Poon, B. Conrad, D. Kelsell, 2013, The Journal of investigative dermatology.

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Colin A. Johnson, S. Gabriel, N. Katsanis, 2012, Science.

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

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Perrault syndrome: further evidence for genetic heterogeneity

Julian R. E. Davis, A. Green, W. Reardon, 2012, Journal of Neurology.

Chondrodysplasia punctata: another possible X-linked recessive case.

C. Bennett, M. Seller, D. Maxwell, 1992, American journal of medical genetics.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Colin A. Johnson, J. Rosenfeld, A. Bateman, 2017, American journal of human genetics.

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

Colin A. Johnson, C. Logan, H. Lindsay, 2012, Cilia.

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates

S. Mahida, C. Bennett, S. Page, 2016, Front. Physiol..

Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis

B. Wagner, J. Fernandes, C. Bennett, 2018, Ultrastructural pathology.

Evidence for a common mutation in hereditary pancreatitis.

A. Markham, S. Bell, C. Bennett, 1998, Molecular pathology : MP.

Clinical expression of Menkes disease in females with normal karyotype

Z. Tümer, T. Jensen, S. Janssens, 2012, Orphanet Journal of Rare Diseases.

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005, Journal of Medical Genetics.

Early-onset Lafora body disease.

S. Scherer, C. Ackerley, Peixiang Wang, 2012, Brain : a journal of neurology.

Pseudotrisomy 13 syndrome.

C. Bennett, M. J. Seller, 1990, American journal of medical genetics.

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Daniel S. Poon, B. Conrad, D. Kelsell, 2013, The Journal of investigative dermatology.