R. Butler

发表

Absence of pathogenic γ‐secretase mutations in a South Wales cohort of familial and sporadic hidradenitis suppurativa (acne inversa)

A. Anstey, J. Ingram, M. Wood, 2013, The British journal of dermatology.

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

H. Feldman, G. Hsiung, I. Mackenzie, 2012, Brain : a journal of neurology.

Clinical and pathological features of familial frontotemporal dementia caused by C 9 ORF 72 mutation on chromosome 9 p

H. Feldman, G. Hsiung, I. Mackenzie, 2012 .

Early onset seizures and Rett-like features associated with mutations in CDKL5

J. Gécz, D. Cooper, A. Clarke, 2005, European Journal of Human Genetics.

Characterizing mutations in samples with low‐level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes

Siân Jones, J. Maynard, J. Cheadle, 2003, Human mutation.

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

P. Huppke, D. Ravine, R. Morgan, 2004 .

A common ancestral mutation (C128X) occurring in 11 non‐Jewish families from the UK with factor XI deficiency

R. Mountford, P. Bolton-Maggs, S. Keeney, 2004, Journal of thrombosis and haemostasis : JTH.

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

D. Cooper, D. Pilz, N. Chuzhanova, 2010, Human Genomics.

Spectrum of factor XI (F11) mutations in the UK population – 116 index cases and 140 mutations

R. Mountford, M. Mitchell, P. Bolton-Maggs, 2006, Human mutation.

A Novel PS1 Gene Mutation in a Large Aboriginal Kindred

B. L. Beattie, P. S. St George-Hyslop, H. Feldman, 2010, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

D. Cooper, N. Chuzhanova, S. McKee, 2008, Genomic Medicine.

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

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

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

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

An Assessment of Genetic Counseling Services for Individuals with Multiple Sclerosis

A. Traboulsee, A. Sadovnick, S. Skinner, 2015, Journal of Genetic Counseling.

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

P. Huppke, D. Ravine, R. Morgan, 2004, Human mutation.

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

A. Clarke, H. Archer, A. Kerr, 2005, European Journal of Human Genetics.

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

Frequencies of chromosome-specific mosaicisms in trophoectoderm biopsies detected by next-generation sequencing.

R. Butler, C. Guimond, G. Nakhuda, 2018, Fertility and sterility.

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

M. Tassabehji, D. Barton, G. Taylor, 1995, Human mutation.

Eleven novel mutations in non-Jewish factor XI deficient kindreds detected by SSCP with heteroduplex analysis followed by sequencing

R. Mountford, P. Bolton-Maggs, D. Gailani, 2003 .

Accuracy of Reported Family History and Effectiveness of Medical Record Requests in Genetic Counseling for Alzheimer Disease

A. Sadovnick, R. Butler, C. Guimond, 2011, Journal of Genetic Counseling.

Reproductive decision making after the diagnosis of multiple sclerosis (MS)

A. Sadovnick, C. Guimond, I. Yee, 2013, Multiple sclerosis.