Charles Shaw-Smith

Charles Shaw-Smith

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Charles Shaw-Smith

Charles Shaw-Smith

Publications by authors named "Charles Shaw-Smith"

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42Publications

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Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Kidney Int 2016 07 24;90(1):203-11. Epub 2016 May 24.

University of Exeter Medical School, Exeter, UK; Exeter Kidney Unit, Royal Devon and Exeter National Health Service Foundation Trust, Exeter, UK. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2016.03.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915913PMC
July 2016

Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.

Horm Res Paediatr 2015 14;84(3):206-11. Epub 2015 Jul 14.

Department of Pediatric Endocrinology, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1159/000435782DOI Listing
June 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Eur J Hum Genet 2015 Dec 12;23(12):1744-8. Epub 2015 Aug 12.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://dx.doi.org/10.1038/ejhg.2015.161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795203PMC
December 2015

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Clinical geneticists' views of VACTERL/VATER association.

Am J Med Genet A 2012 Dec 19;158A(12):3087-100. Epub 2012 Nov 19.

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.35638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3507421PMC
December 2012

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Nat Genet 2011 Dec 11;44(1):20-22. Epub 2011 Dec 11.

Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.

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http://dx.doi.org/10.1038/ng.1035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962PMC
December 2011

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.

J Biol Chem 2011 Jun 22;286(24):21393-400. Epub 2011 Apr 22.

Department of Experimental Radiation Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1074/jbc.M110.208793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3122199PMC
June 2011

Review of genetic factors in intestinal malrotation.

Pediatr Surg Int 2010 Aug 13;26(8):769-81. Epub 2010 Jun 13.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1007/s00383-010-2622-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908440PMC
August 2010

Chromosome engineering in ES cells.

Methods Mol Biol 2009 ;530:49-77

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK.

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http://dx.doi.org/10.1007/978-1-59745-471-1_4DOI Listing
May 2009

Keipert syndrome: two further cases and review of the literature.

Clin Dysmorphol 2008 Jul;17(3):169-75

Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3282f4afc3DOI Listing
July 2008

Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature.

Clin Dysmorphol 2005 Jul;14(3):155-8

Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.

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http://dx.doi.org/10.1097/00019605-200507000-00011DOI Listing
July 2005

The DNA sequence of the human X chromosome.

Authors:
Mark T Ross Darren V Grafham Alison J Coffey Steven Scherer Kirsten McLay Donna Muzny Matthias Platzer Gareth R Howell Christine Burrows Christine P Bird Adam Frankish Frances L Lovell Kevin L Howe Jennifer L Ashurst Robert S Fulton Ralf Sudbrak Gaiping Wen Matthew C Jones Matthew E Hurles T Daniel Andrews Carol E Scott Stephen Searle Juliane Ramser Adam Whittaker Rebecca Deadman Nigel P Carter Sarah E Hunt Rui Chen Andrew Cree Preethi Gunaratne Paul Havlak Anne Hodgson Michael L Metzker Stephen Richards Graham Scott David Steffen Erica Sodergren David A Wheeler Kim C Worley Rachael Ainscough Kerrie D Ambrose M Ali Ansari-Lari Swaroop Aradhya Robert I S Ashwell Anne K Babbage Claire L Bagguley Andrea Ballabio Ruby Banerjee Gary E Barker Karen F Barlow Ian P Barrett Karen N Bates David M Beare Helen Beasley Oliver Beasley Alfred Beck Graeme Bethel Karin Blechschmidt Nicola Brady Sarah Bray-Allen Anne M Bridgeman Andrew J Brown Mary J Brown David Bonnin Elspeth A Bruford Christian Buhay Paula Burch Deborah Burford Joanne Burgess Wayne Burrill John Burton Jackie M Bye Carol Carder Laura Carrel Joseph Chako Joanne C Chapman Dean Chavez Ellson Chen Guan Chen Yuan Chen Zhijian Chen Craig Chinault Alfredo Ciccodicola Sue Y Clark Graham Clarke Chris M Clee Sheila Clegg Kerstin Clerc-Blankenburg Karen Clifford Vicky Cobley Charlotte G Cole Jen S Conquer Nicole Corby Richard E Connor Robert David Joy Davies Clay Davis John Davis Oliver Delgado Denise Deshazo Pawandeep Dhami Yan Ding Huyen Dinh Steve Dodsworth Heather Draper Shannon Dugan-Rocha Andrew Dunham Matthew Dunn K James Durbin Ireena Dutta Tamsin Eades Matthew Ellwood Alexandra Emery-Cohen Helen Errington Kathryn L Evans Louisa Faulkner Fiona Francis John Frankland Audrey E Fraser Petra Galgoczy James Gilbert Rachel Gill Gernot Glöckner Simon G Gregory Susan Gribble Coline Griffiths Russell Grocock Yanghong Gu Rhian Gwilliam Cerissa Hamilton Elizabeth A Hart Alicia Hawes Paul D Heath Katja Heitmann Steffen Hennig Judith Hernandez Bernd Hinzmann Sarah Ho Michael Hoffs Phillip J Howden Elizabeth J Huckle Jennifer Hume Paul J Hunt Adrienne R Hunt Judith Isherwood Leni Jacob David Johnson Sally Jones Pieter J de Jong Shirin S Joseph Stephen Keenan Susan Kelly Joanne K Kershaw Ziad Khan Petra Kioschis Sven Klages Andrew J Knights Anna Kosiura Christie Kovar-Smith Gavin K Laird Cordelia Langford Stephanie Lawlor Margaret Leversha Lora Lewis Wen Liu Christine Lloyd David M Lloyd Hermela Loulseged Jane E Loveland Jamieson D Lovell Ryan Lozado Jing Lu Rachael Lyne Jie Ma Manjula Maheshwari Lucy H Matthews Jennifer McDowall Stuart McLaren Amanda McMurray Patrick Meidl Thomas Meitinger Sarah Milne George Miner Shailesh L Mistry Margaret Morgan Sidney Morris Ines Müller James C Mullikin Ngoc Nguyen Gabriele Nordsiek Gerald Nyakatura Christopher N O'Dell Geoffery Okwuonu Sophie Palmer Richard Pandian David Parker Julia Parrish Shiran Pasternak Dina Patel Alex V Pearce Danita M Pearson Sarah E Pelan Lesette Perez Keith M Porter Yvonne Ramsey Kathrin Reichwald Susan Rhodes Kerry A Ridler David Schlessinger Mary G Schueler Harminder K Sehra Charles Shaw-Smith Hua Shen Elizabeth M Sheridan Ratna Shownkeen Carl D Skuce Michelle L Smith Elizabeth C Sotheran Helen E Steingruber Charles A Steward Roy Storey R Mark Swann David Swarbreck Paul E Tabor Stefan Taudien Tineace Taylor Brian Teague Karen Thomas Andrea Thorpe Kirsten Timms Alan Tracey Steve Trevanion Anthony C Tromans Michele d'Urso Daniel Verduzco Donna Villasana Lenee Waldron Melanie Wall Qiaoyan Wang James Warren Georgina L Warry Xuehong Wei Anthony West Siobhan L Whitehead Mathew N Whiteley Jane E Wilkinson David L Willey Gabrielle Williams Leanne Williams Angela Williamson Helen Williamson Laurens Wilming Rebecca L Woodmansey Paul W Wray Jennifer Yen Jingkun Zhang Jianling Zhou Huda Zoghbi Sara Zorilla David Buck Richard Reinhardt Annemarie Poustka André Rosenthal Hans Lehrach Alfons Meindl Patrick J Minx Ladeana W Hillier Huntington F Willard Richard K Wilson Robert H Waterston Catherine M Rice Mark Vaudin Alan Coulson David L Nelson George Weinstock John E Sulston Richard Durbin Tim Hubbard Richard A Gibbs Stephan Beck Jane Rogers David R Bentley

Nature 2005 Mar;434(7031):325-37

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://www.genenames.org/sites/genenames.org/files/documents
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http://www.nature.com/doifinder/10.1038/nature03440
Publisher Site
http://dx.doi.org/10.1038/nature03440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665286PMC
March 2005

Human ileal bile acid-binding protein promoter and the effects of CDX2.

Biochim Biophys Acta 2003 Nov;1630(2-3):138-43

Gastroenterology Section, Faculty of Medicine, Imperial College London, UK.

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http://dx.doi.org/10.1016/j.bbaexp.2003.09.008DOI Listing
November 2003