Richard Trembath

Richard Trembath

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Richard Trembath

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Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Authors:
Christopher J Rhodes Ken Batai Marta Bleda Matthias Haimel Laura Southgate Marine Germain Michael W Pauciulo Charaka Hadinnapola Jurjan Aman Barbara Girerd Amit Arora Jo Knight Ken B Hanscombe Jason H Karnes Marika Kaakinen Henning Gall Anna Ulrich Lars Harbaum Inês Cebola Jorge Ferrer Katie Lutz Emilia M Swietlik Ferhaan Ahmad Philippe Amouyel Stephen L Archer Rahul Argula Eric D Austin David Badesch Sahil Bakshi Christopher Barnett Raymond Benza Nitin Bhatt Harm J Bogaard Charles D Burger Murali Chakinala Colin Church John G Coghlan Robin Condliffe Paul A Corris Cesare Danesino Stéphanie Debette C Gregory Elliott Jean Elwing Melanie Eyries Terry Fortin Andre Franke Robert P Frantz Adaani Frost Joe G N Garcia Stefano Ghio Hossein-Ardeschir Ghofrani J Simon R Gibbs John Harley Hua He Nicholas S Hill Russel Hirsch Arjan C Houweling Luke S Howard Dunbar Ivy David G Kiely James Klinger Gabor Kovacs Tim Lahm Matthias Laudes Rajiv D Machado Robert V MacKenzie Ross Keith Marsolo Lisa J Martin Shahin Moledina David Montani Steven D Nathan Michael Newnham Andrea Olschewski Horst Olschewski Ronald J Oudiz Willem H Ouwehand Andrew J Peacock Joanna Pepke-Zaba Zia Rehman Ivan Robbins Dan M Roden Erika B Rosenzweig Ghulam Saydain Laura Scelsi Robert Schilz Werner Seeger Christian M Shaffer Robert W Simms Marc Simon Olivier Sitbon Jay Suntharalingam Haiyang Tang Alexander Y Tchourbanov Thenappan Thenappan Fernando Torres Mark R Toshner Carmen M Treacy Anton Vonk Noordegraaf Quinten Waisfisz Anna K Walsworth Robert E Walter John Wharton R James White Jeffrey Wilt Stephen J Wort Delphine Yung Allan Lawrie Marc Humbert Florent Soubrier David-Alexandre Trégouët Inga Prokopenko Richard Kittles Stefan Gräf William C Nichols Richard C Trembath Ankit A Desai Nicholas W Morrell Martin R Wilkins

Lancet Respir Med 2019 Mar 5;7(3):227-238. Epub 2018 Dec 5.

Department of Medicine, Imperial College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S2213-2600(18)30409-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391516PMC
March 2019

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Hum Mol Genet 2016 05 3;25(9):1836-45. Epub 2016 Mar 3.

Centre for Rare Diseases and Personalised Medicine, West Midlands Regional Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK

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http://dx.doi.org/10.1093/hmg/ddw057DOI Listing
May 2016

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

Cancer Discov 2015 Jul 14;5(7):723-9. Epub 2015 Apr 14.

Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom. Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/2159-8290.CD-14-1096DOI Listing
July 2015

Germline FH mutations presenting with pheochromocytoma.

J Clin Endocrinol Metab 2014 Oct 8;99(10):E2046-50. Epub 2014 Jul 8.

Department of Medical Genetics (G.R.C., E.R.M.), University of Cambridge and National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, United Kingdom; Medical Research Council (MRC) Cancer Unit (M.S., E.G., C.F.), University of Cambridge, Hutchison/MRC Research Centre, Cambridge CB2 0XZ, United Kingdom; Centre for Rare Diseases and Personalized Medicine (D.M.W., G.K., E.R.W.), University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom; West Midlands Regional Genetics Service (G.K., E.R.W.), Birmingham Women's Hospital, Birmingham B15 2TG, United Kingdom; Division of Genetics and Molecular Medicine (M.A.S., R.C.T.), King's College London School of Medicine, Guy's Hospital, London WC2R 2LS, United Kingdom; Department of Clinical Genetics (J.N.B.), University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom; Department of Clinical Genetics (E.K.), Royal Hospital for Sick Children (Yorkhill), Glasgow G3 8SJ, United Kingdom; and Department of Medical Genetics (P.J.M.), Queen's University Belfast, Belfast Health and Social Care Trust, Belfast BT9 7AB, United Kingdom.

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http://dx.doi.org/10.1210/jc.2014-1659DOI Listing
October 2014

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.

Biol Psychiatry 2014 Mar 17;75(5):386-97. Epub 2013 Jul 17.

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http://dx.doi.org/10.1016/j.biopsych.2013.03.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923972PMC
March 2014

Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?

J Invest Dermatol 2014 Feb 16;134(2):580-581. Epub 2013 Aug 16.

Division of Genetics and Molecular Medicine, Guy's Hospital, King's College, London, UK; Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, Guy's Hospital, London, UK; Guy's and St Thomas' NHS Foundation Trust, Skin Therapy Research Unit, St John's Institute of Dermatology, St Thomas' Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.349DOI Listing
February 2014

Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris.

J Invest Dermatol 2014 Jan 21;134(1):271-273. Epub 2013 Jun 21.

Division of Genetics and Molecular Medicine, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.285DOI Listing
January 2014

Genetics and genomics of pulmonary arterial hypertension.

J Am Coll Cardiol 2013 Dec;62(25 Suppl):D13-21

Centre de Référence de l'Hypertension Pulmonaire Sévère, Service de Pneumologie, Hôpital de Bicêtre, APHP, Le Kremlin Bicêtre, Université Paris-Sud, Faculté de Médecine, Le Kremlin Bicêtre; Département Hospitalo-Universitaire (DHU) thorax Innovation, AP-HP, Le Kremlin Bicêtre; UMR_S 999, INSERM and Université Paris-Sud, LabEx LERMIT, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.

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http://content.onlinejacc.org/data/Journals/JAC/23615/04015.
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http://content.onlinejacc.org/data/Journals/JAC/929484/10035
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http://linkinghub.elsevier.com/retrieve/pii/S073510971305878
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http://dx.doi.org/10.1016/j.jacc.2013.10.035DOI Listing
December 2013

Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

Authors:
Stephan Ripke Colm O'Dushlaine Kimberly Chambert Jennifer L Moran Anna K Kähler Susanne Akterin Sarah E Bergen Ann L Collins James J Crowley Menachem Fromer Yunjung Kim Sang Hong Lee Patrik K E Magnusson Nick Sanchez Eli A Stahl Stephanie Williams Naomi R Wray Kai Xia Francesco Bettella Anders D Borglum Brendan K Bulik-Sullivan Paul Cormican Nick Craddock Christiaan de Leeuw Naser Durmishi Michael Gill Vera Golimbet Marian L Hamshere Peter Holmans David M Hougaard Kenneth S Kendler Kuang Lin Derek W Morris Ole Mors Preben B Mortensen Benjamin M Neale Francis A O'Neill Michael J Owen Milica Pejovic Milovancevic Danielle Posthuma John Powell Alexander L Richards Brien P Riley Douglas Ruderfer Dan Rujescu Engilbert Sigurdsson Teimuraz Silagadze August B Smit Hreinn Stefansson Stacy Steinberg Jaana Suvisaari Sarah Tosato Matthijs Verhage James T Walters Douglas F Levinson Pablo V Gejman Kenneth S Kendler Claudine Laurent Bryan J Mowry Michael C O'Donovan Michael J Owen Ann E Pulver Brien P Riley Sibylle G Schwab Dieter B Wildenauer Frank Dudbridge Peter Holmans Jianxin Shi Margot Albus Madeline Alexander Dominique Campion David Cohen Dimitris Dikeos Jubao Duan Peter Eichhammer Stephanie Godard Mark Hansen F Bernard Lerer Kung-Yee Liang Wolfgang Maier Jacques Mallet Deborah A Nertney Gerald Nestadt Nadine Norton Francis A O'Neill George N Papadimitriou Robert Ribble Alan R Sanders Jeremy M Silverman Dermot Walsh Nigel M Williams Brandon Wormley Maria J Arranz Steven Bakker Stephan Bender Elvira Bramon David Collier Benedicto Crespo-Facorro Jeremy Hall Conrad Iyegbe Assen Jablensky Rene S Kahn Luba Kalaydjieva Stephen Lawrie Cathryn M Lewis Kuang Lin Don H Linszen Ignacio Mata Andrew McIntosh Robin M Murray Roel A Ophoff John Powell Dan Rujescu Jim Van Os Muriel Walshe Matthias Weisbrod Durk Wiersma Peter Donnelly Ines Barroso Jenefer M Blackwell Elvira Bramon Matthew A Brown Juan P Casas Aiden P Corvin Panos Deloukas Audrey Duncanson Janusz Jankowski Hugh S Markus Christopher G Mathew Colin N A Palmer Robert Plomin Anna Rautanen Stephen J Sawcer Richard C Trembath Ananth C Viswanathan Nicholas W Wood Chris C A Spencer Gavin Band Céline Bellenguez Colin Freeman Garrett Hellenthal Eleni Giannoulatou Matti Pirinen Richard D Pearson Amy Strange Zhan Su Damjan Vukcevic Peter Donnelly Cordelia Langford Sarah E Hunt Sarah Edkins Rhian Gwilliam Hannah Blackburn Suzannah J Bumpstead Serge Dronov Matthew Gillman Emma Gray Naomi Hammond Alagurevathi Jayakumar Owen T McCann Jennifer Liddle Simon C Potter Radhi Ravindrarajah Michelle Ricketts Avazeh Tashakkori-Ghanbaria Matthew J Waller Paul Weston Sara Widaa Pamela Whittaker Ines Barroso Panos Deloukas Christopher G Mathew Jenefer M Blackwell Matthew A Brown Aiden P Corvin Mark I McCarthy Chris C A Spencer Elvira Bramon Aiden P Corvin Michael C O'Donovan Kari Stefansson Edward Scolnick Shaun Purcell Steven A McCarroll Pamela Sklar Christina M Hultman Patrick F Sullivan

Nat Genet 2013 Oct 25;45(10):1150-9. Epub 2013 Aug 25.

1] Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [3].

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http://dx.doi.org/10.1038/ng.2742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827979PMC
October 2013

Inhibition of overactive transforming growth factor-β signaling by prostacyclin analogs in pulmonary arterial hypertension.

Am J Respir Cell Mol Biol 2013 Jun;48(6):733-41

Department of Medical and Molecular Genetics, School of Medicine, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1165/rcmb.2012-0049OCDOI Listing
June 2013

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

Orphanet J Rare Dis 2013 May 16;8:74. Epub 2013 May 16.

Department of Medical and Molecular Genetics and Centre for Rare Diseases and Personalised Medicine, University of Birmingham School of Medicine, Birmingham, UK.

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http://dx.doi.org/10.1186/1750-1172-8-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659031PMC
May 2013

γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.

J Invest Dermatol 2013 Mar 25;133(3):601-607. Epub 2012 Oct 25.

Division of Genetics and Molecular Medicine, King's College London School of Medicine, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1038/jid.2012.372DOI Listing
March 2013

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

Eur J Med Genet 2013 Jan 7;56(1):39-42. Epub 2012 Nov 7.

Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.004DOI Listing
January 2013

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis.

Hum Mol Genet 2012 Dec 21;21(23):5185-92. Epub 2012 Aug 21.

National Institute for Health Research, Biomedical Research Centre, Guy’s and St Thomas’ NHS Foundation Trust, Toronto, ON, Canada M5T 1R8.

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http://dx.doi.org/10.1093/hmg/dds344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490509PMC
December 2012

Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).

J Invest Dermatol 2012 Oct 24;132(10):2459-2461. Epub 2012 May 24.

Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, UK. Electronic address:

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http://dx.doi.org/10.1038/jid.2012.162DOI Listing
October 2012

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.

Authors:
Zhan Su Laura J Gay Amy Strange Claire Palles Gavin Band David C Whiteman Francesco Lescai Cordelia Langford Manoj Nanji Sarah Edkins Anouk van der Winkel David Levine Peter Sasieni Céline Bellenguez Kimberley Howarth Colin Freeman Nigel Trudgill Art T Tucker Matti Pirinen Maikel P Peppelenbosch Luc J W van der Laan Ernst J Kuipers Joost P H Drenth Wilbert H Peters John V Reynolds Dermot P Kelleher Ross McManus Heike Grabsch Hans Prenen Raf Bisschops Kausila Krishnadath Peter D Siersema Jantine W P M van Baal Mark Middleton Russell Petty Richard Gillies Nicola Burch Pradeep Bhandari Stuart Paterson Cathryn Edwards Ian Penman Kishor Vaidya Yeng Ang Iain Murray Praful Patel Weimin Ye Paul Mullins Anna H Wu Nigel C Bird Helen Dallal Nicholas J Shaheen Liam J Murray Konrad Koss Leslie Bernstein Yvonne Romero Laura J Hardie Rui Zhang Helen Winter Douglas A Corley Simon Panter Harvey A Risch Brian J Reid Ian Sargeant Marilie D Gammon Howard Smart Anjan Dhar Hugh McMurtry Haythem Ali Geoffrey Liu Alan G Casson Wong-Ho Chow Matt Rutter Ashref Tawil Danielle Morris Chuka Nwokolo Peter Isaacs Colin Rodgers Krish Ragunath Chris MacDonald Chris Haigh David Monk Gareth Davies Saj Wajed David Johnston Michael Gibbons Sue Cullen Nicholas Church Ruth Langley Michael Griffin Derek Alderson Panos Deloukas Sarah E Hunt Emma Gray Serge Dronov Simon C Potter Avazeh Tashakkori-Ghanbaria Mark Anderson Claire Brooks Jenefer M Blackwell Elvira Bramon Matthew A Brown Juan P Casas Aiden Corvin Audrey Duncanson Hugh S Markus Christopher G Mathew Colin N A Palmer Robert Plomin Anna Rautanen Stephen J Sawcer Richard C Trembath Ananth C Viswanathan Nicholas Wood Gosia Trynka Cisca Wijmenga Jean-Baptiste Cazier Paul Atherfold Anna M Nicholson Nichola L Gellatly Deborah Glancy Sheldon C Cooper David Cunningham Tore Lind Julie Hapeshi David Ferry Barrie Rathbone Julia Brown Sharon Love Stephen Attwood Stuart MacGregor Peter Watson Scott Sanders Weronica Ek Rebecca F Harrison Paul Moayyedi John de Caestecker Hugh Barr Elia Stupka Thomas L Vaughan Leena Peltonen Chris C A Spencer Ian Tomlinson Peter Donnelly Janusz A Z Jankowski

Nat Genet 2012 Oct 9;44(10):1131-6. Epub 2012 Sep 9.

Wellcome Trust Centre for Human Genetics, Oxford, UK.

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http://dx.doi.org/10.1038/ng.2408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459818PMC
October 2012

De novo mutations in MLL cause Wiedemann-Steiner syndrome.

Am J Hum Genet 2012 Aug 12;91(2):358-64. Epub 2012 Jul 12.

South West Thames Regional Genetics Service, St George's Hospital, University of London, London SW17 0RE, UK.

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http://dx.doi.org/10.1016/j.ajhg.2012.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415539PMC
August 2012

Psoriasis and other complex trait dermatoses: from Loci to functional pathways.

J Invest Dermatol 2012 Mar 8;132(3 Pt 2):915-22. Epub 2011 Dec 8.

Division of Genetics and Molecular Medicine, King's College London, London, UK.

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http://dx.doi.org/10.1038/jid.2011.395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378482PMC
March 2012

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke.

Nat Genet 2012 Feb 5;44(3):328-33. Epub 2012 Feb 5.

Wellcome Trust Centre for Human Genetics, University of Oxford, UK.

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http://www.nature.com/articles/ng.1081
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http://dx.doi.org/10.1038/ng.1081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303115PMC
February 2012

Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis.

Hum Mol Genet 2011 Aug 13;20(16):3129-37. Epub 2011 May 13.

Division of Immunology, Infection and Inflammatory Disease, King’s College London, School of Medicine at Guy’s, King’s College and St Thomas’ Hospitals, London SE1 9RT, UK.

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http://dx.doi.org/10.1093/hmg/ddr215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140818PMC
August 2011

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Authors:
Stephen Sawcer Garrett Hellenthal Matti Pirinen Chris C A Spencer Nikolaos A Patsopoulos Loukas Moutsianas Alexander Dilthey Zhan Su Colin Freeman Sarah E Hunt Sarah Edkins Emma Gray David R Booth Simon C Potter An Goris Gavin Band Annette Bang Oturai Amy Strange Janna Saarela Céline Bellenguez Bertrand Fontaine Matthew Gillman Bernhard Hemmer Rhian Gwilliam Frauke Zipp Alagurevathi Jayakumar Roland Martin Stephen Leslie Stanley Hawkins Eleni Giannoulatou Sandra D'alfonso Hannah Blackburn Filippo Martinelli Boneschi Jennifer Liddle Hanne F Harbo Marc L Perez Anne Spurkland Matthew J Waller Marcin P Mycko Michelle Ricketts Manuel Comabella Naomi Hammond Ingrid Kockum Owen T McCann Maria Ban Pamela Whittaker Anu Kemppinen Paul Weston Clive Hawkins Sara Widaa John Zajicek Serge Dronov Neil Robertson Suzannah J Bumpstead Lisa F Barcellos Rathi Ravindrarajah Roby Abraham Lars Alfredsson Kristin Ardlie Cristin Aubin Amie Baker Katharine Baker Sergio E Baranzini Laura Bergamaschi Roberto Bergamaschi Allan Bernstein Achim Berthele Mike Boggild Jonathan P Bradfield David Brassat Simon A Broadley Dorothea Buck Helmut Butzkueven Ruggero Capra William M Carroll Paola Cavalla Elisabeth G Celius Sabine Cepok Rosetta Chiavacci Françoise Clerget-Darpoux Katleen Clysters Giancarlo Comi Mark Cossburn Isabelle Cournu-Rebeix Mathew B Cox Wendy Cozen Bruce A C Cree Anne H Cross Daniele Cusi Mark J Daly Emma Davis Paul I W de Bakker Marc Debouverie Marie Beatrice D'hooghe Katherine Dixon Rita Dobosi Bénédicte Dubois David Ellinghaus Irina Elovaara Federica Esposito Claire Fontenille Simon Foote Andre Franke Daniela Galimberti Angelo Ghezzi Joseph Glessner Refujia Gomez Olivier Gout Colin Graham Struan F A Grant Franca Rosa Guerini Hakon Hakonarson Per Hall Anders Hamsten Hans-Peter Hartung Rob N Heard Simon Heath Jeremy Hobart Muna Hoshi Carmen Infante-Duarte Gillian Ingram Wendy Ingram Talat Islam Maja Jagodic Michael Kabesch Allan G Kermode Trevor J Kilpatrick Cecilia Kim Norman Klopp Keijo Koivisto Malin Larsson Mark Lathrop Jeannette S Lechner-Scott Maurizio A Leone Virpi Leppä Ulrika Liljedahl Izaura Lima Bomfim Robin R Lincoln Jenny Link Jianjun Liu Aslaug R Lorentzen Sara Lupoli Fabio Macciardi Thomas Mack Mark Marriott Vittorio Martinelli Deborah Mason Jacob L McCauley Frank Mentch Inger-Lise Mero Tania Mihalova Xavier Montalban John Mottershead Kjell-Morten Myhr Paola Naldi William Ollier Alison Page Aarno Palotie Jean Pelletier Laura Piccio Trevor Pickersgill Fredrik Piehl Susan Pobywajlo Hong L Quach Patricia P Ramsay Mauri Reunanen Richard Reynolds John D Rioux Mariaemma Rodegher Sabine Roesner Justin P Rubio Ina-Maria Rückert Marco Salvetti Erika Salvi Adam Santaniello Catherine A Schaefer Stefan Schreiber Christian Schulze Rodney J Scott Finn Sellebjerg Krzysztof W Selmaj David Sexton Ling Shen Brigid Simms-Acuna Sheila Skidmore Patrick M A Sleiman Cathrine Smestad Per Soelberg Sørensen Helle Bach Søndergaard Jim Stankovich Richard C Strange Anna-Maija Sulonen Emilie Sundqvist Ann-Christine Syvänen Francesca Taddeo Bruce Taylor Jenefer M Blackwell Pentti Tienari Elvira Bramon Ayman Tourbah Matthew A Brown Ewa Tronczynska Juan P Casas Niall Tubridy Aiden Corvin Jane Vickery Janusz Jankowski Pablo Villoslada Hugh S Markus Kai Wang Christopher G Mathew James Wason Colin N A Palmer H-Erich Wichmann Robert Plomin Ernest Willoughby Anna Rautanen Juliane Winkelmann Michael Wittig Richard C Trembath Jacqueline Yaouanq Ananth C Viswanathan Haitao Zhang Nicholas W Wood Rebecca Zuvich Panos Deloukas Cordelia Langford Audrey Duncanson Jorge R Oksenberg Margaret A Pericak-Vance Jonathan L Haines Tomas Olsson Jan Hillert Adrian J Ivinson Philip L De Jager Leena Peltonen Graeme J Stewart David A Hafler Stephen L Hauser Gil McVean Peter Donnelly Alastair Compston

Nature 2011 Aug 10;476(7359):214-9. Epub 2011 Aug 10.

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http://dx.doi.org/10.1038/nature10251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3182531PMC
August 2011

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

Nat Genet 2011 Jul 10;43(8):761-7. Epub 2011 Jul 10.

Medical Research Council (MRC) Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.

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http://dx.doi.org/10.1038/ng.873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3640413PMC
July 2011

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

Nat Genet 2010 Nov 17;42(11):985-90. Epub 2010 Oct 17.

Wellcome Trust Centre for Human Genetics, Oxford, UK.

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http://dx.doi.org/10.1038/ng.694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749730PMC
November 2010

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.

Mol Genet Metab 2010 Mar 16;99(3):325-8. Epub 2009 Nov 16.

Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1016/j.ymgme.2009.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852677PMC
March 2010

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.

Nat Genet 2009 Dec 15;41(12):1330-4. Epub 2009 Nov 15.

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http://dx.doi.org/10.1038/ng.483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2812019PMC
December 2009

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

Am J Med Genet A 2009 Aug;149A(8):1860-81

Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, UK.

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http://dx.doi.org/10.1002/ajmg.a.32708DOI Listing
August 2009

Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells.

J Biol Chem 2009 Jun 14;284(23):15794-804. Epub 2009 Apr 14.

Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's and Papworth Hospitals, Cambridge CB2 2QQ, UK.

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http://dx.doi.org/10.1074/jbc.M109.002881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708876PMC
June 2009

Genetics and genomics of pulmonary arterial hypertension.

J Am Coll Cardiol 2009 Jun;54(1 Suppl):S32-42

Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jacc.2009.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725550PMC
June 2009

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

Mol Vis 2009 May 18;15:1014-9. Epub 2009 May 18.

Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684559PMC
May 2009

Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue.

Hum Mol Genet 2008 Oct 21;17(20):3180-90. Epub 2008 Jul 21.

Department of Medicine, University of Cambridge School of Clinical Medicine, Box 157, Addenbrooke's Hospital, Hills Road, Cambridge, Cambridgeshire CB2 2QQ, UK.

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http://dx.doi.org/10.1093/hmg/ddn214DOI Listing
October 2008

Mutations in bone morphogenetic protein type II receptor cause dysregulation of Id gene expression in pulmonary artery smooth muscle cells: implications for familial pulmonary arterial hypertension.

Circ Res 2008 May 24;102(10):1212-21. Epub 2008 Apr 24.

Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's and Papworth Hospitals, Cambridge CB2 2QQ, United Kingdom.

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http://dx.doi.org/10.1161/CIRCRESAHA.108.173567DOI Listing
May 2008