J. Carmichael

发表

A potential role for the clathrin adaptor GGA in Drosophila spermatogenesis

J. Hirst, J. Carmichael, Jennifer Hirst, 2011, BMC Cell Biology.

Huntington's disease: from pathology and genetics to potential therapies.

D. Rubinsztein, J. Davies, V. Korolchuk, 2008, The Biochemical journal.

The molecular biology of Huntington's disease

D. Rubinsztein, J. Swartz, J. Rankin, 2001, Psychological Medicine.

Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin.

D. Rubinsztein, J. Carmichael, A. Wyttenbach, 2002, Human molecular genetics.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington's disease.

D. Rubinsztein, A. Schapira, J. Swartz, 2001, Human molecular genetics.

Genetic defects of human brain development

C. Woods, J. Carmichael, 2006, Current neurology and neuroscience reports.

RERE deficiency contributes to the development of orofacial clefts in humans and mice.

J. Carmichael, D. Scott, T. Scott, 2021, Human molecular genetics.

Genetic and chemotherapeutic influences on germline hypermutation

Patrick J. Short, P. Danecek, H. Firth, 2022, Nature.

Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature

K. Prescott, A. Fry, S. Berland, 2021, European Journal of Human Genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

The bacterial chaperonin GroEL requires GroES to reduce aggregation and cell death in a COS-7 cell model of Huntington's disease

D. Rubinsztein, J. Carmichael, C. Vacher, 2002, Neuroscience Letters.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Modulation of polyglutamine-induced cell death by genes identified by expression profiling.

D. Rubinsztein, J. Swartz, Kikuya Kato, 2002, Human molecular genetics.

Huntington's disease: molecular basis of neurodegeneration

D. Rubinsztein, J. Carmichael, David C Rubinsztein, 2003, Expert Reviews in Molecular Medicine.

Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature

A. Fry, S. Berland, J. Carmichael, 2021, European Journal of Human Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Genetic and chemotherapeutic causes of germline hypermutation

Patrick J. Short, M. Hurles, P. Danecek, 2021 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

A. Pagnamenta, Matteo P. Ferla, Jenny C. Taylor, 2019, Clinical genetics.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

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

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

Expanding the phenotypic spectrum of Chromosome16p13.11 microduplication: A multicentric analysis of 206 patients.

C. Mercer, R. McGowan, J. Carmichael, 2023, European journal of medical genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

Colin A. Johnson, H. Brittain, C. Inglehearn, 2021, Journal of Medical Genetics.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Bacterial and yeast chaperones reduce both aggregate formation and cell death in mammalian cell models of Huntington's disease.

A. Fersht, C. Milstein, D. Rubinsztein, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Glycogen Synthase Kinase-3β Inhibitors Prevent Cellular Polyglutamine Toxicity Caused by the Huntington's Disease Mutation*

D. Rubinsztein, J. Carmichael, Y. Bao, 2002, The Journal of Biological Chemistry.

Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease.

D. Rubinsztein, J. Swartz, J. Rankin, 2000, Proceedings of the National Academy of Sciences of the United States of America.

B. D. de Vries, S. Mehta, E. van Binsbergen, 2023, Clinical genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.