Publications by authors named "Raymond Dalgleish"

32Publications

EMQN best practice guidelines for genetic testing in dystrophinopathies.

Eur J Hum Genet 2020 Sep 18;28(9):1141-1159. Epub 2020 May 18.

Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-020-0643-7DOI Listing
September 2020

Mutations in COL1A1 Gene Change Dentin Nanostructure: A Response.

Anat Rec (Hoboken) 2018 08 26;301(8):1307-1308. Epub 2018 Apr 26.

Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ar.23814DOI Listing
August 2018

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.

Hum Mutat 2018 01 17;39(1):61-68. Epub 2017 Oct 17.

Department of Genetics, University of Leicester, Leicester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765404PMC
January 2018

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

Hum Mutat 2016 06 25;37(6):564-9. Epub 2016 Mar 25.

Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22981DOI Listing
June 2016

LSDBs and How They Have Evolved.

Hum Mutat 2016 06 14;37(6):532-9. Epub 2016 Mar 14.

Department of Genetics, University of Leicester, Leicester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22979DOI Listing
June 2016

Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts.

Hum Mutat 2015 Oct 25;36(10):957-64. Epub 2015 Aug 25.

Department of Genetics, University of Leicester, Leicester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22841DOI Listing
October 2015

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.

Fertil Steril 2015 Feb 17;103(2):548-53.e5. Epub 2014 Dec 17.

Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China; Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, People's Republic of China. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2014.11.011DOI Listing
February 2015

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Pediatr Nephrol 2015 Nov 11;30(11):1893-901. Epub 2014 Nov 11.

Research Department of Genetics, Evolution and Environment, University College London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-014-2994-1DOI Listing
November 2015

Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure.

Fertil Steril 2014 Apr 10;101(4):1104-1109.e6. Epub 2014 Feb 10.

Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China; Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00150282140000
Publisher Site
http://dx.doi.org/10.1016/j.fertnstert.2014.01.001DOI Listing
April 2014

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.

Nucleic Acids Res 2014 Jan 26;42(Database issue):D873-8. Epub 2013 Nov 26.

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK, National Center for Biotechnology Information, Bethesda, MD 20894, USA, and Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
Publisher Site
http://dx.doi.org/10.1093/nar/gkt1198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965024PMC
January 2014

Variobox: automatic detection and annotation of human genetic variants.

Hum Mutat 2014 Feb 21;35(2):202-7. Epub 2013 Nov 21.

DETI/IEETA, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22474DOI Listing
February 2014

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.

Maturitas 2014 Jan 20;77(1):64-7. Epub 2013 Sep 20.

Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China; Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.maturitas.2013.09.006DOI Listing
January 2014

Clinical utility gene card for: osteogenesis imperfecta.

Eur J Hum Genet 2013 Jun 26;21(6). Epub 2012 Sep 26.

Department of Clinical Genetics, Center for Connective Tissue Disorders, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658202PMC
June 2013

Solving bottlenecks in data sharing in the life sciences.

Hum Mutat 2012 Oct 18;33(10):1494-6. Epub 2012 Jun 18.

Department of Genetics, University of Leicester, Leicester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22123DOI Listing
October 2012

Guidelines for establishing locus specific databases.

Hum Mutat 2012 Feb 9;33(2):298-305. Epub 2011 Dec 9.

Institute of Biomedical Technology, University of Tampere, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21646DOI Listing
February 2012

Curating gene variant databases (LSDBs): toward a universal standard.

Hum Mutat 2012 Feb 3;33(2):291-7. Epub 2011 Nov 3.

Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21626DOI Listing
February 2012

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Eur J Hum Genet 2012 Jan 10;20(1):11-9. Epub 2011 Aug 10.

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234509PMC
January 2012

WAVe: web analysis of the variome.

Hum Mutat 2011 Jul 7;32(7):729-34. Epub 2011 Apr 7.

DETI/IEETA, Universidade de Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21499DOI Listing
July 2011

Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene.

Knee Surg Sports Traumatol Arthrosc 2011 Aug 17;19(8):1403; author reply 1404-5. Epub 2011 Feb 17.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00167-011-1408-1DOI Listing
August 2011

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

View Article

Download full-text PDF

Source
http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
Web Search
http://doi.wiley.com/10.1002/humu.20972
Publisher Site
http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

The comparison of the effectiveness of a modified conformation sensitive gel electrophoresis with denaturing high performance liquid chromatography.

Iran Biomed J 2008 04;12(2):109-14

Dept. of Genetics, University of Leicester, Leicester, UK.

View Article

Download full-text PDF

Source
April 2008

Characterization of the human secreted phosphoprotein 24 gene (SPP2) and comparison of the protein sequence in nine species.

Matrix Biol 2004 Feb;22(8):641-51

Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.matbio.2003.12.001DOI Listing
February 2004