Carlo Rivolta

Carlo Rivolta

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Carlo Rivolta

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Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.

Am J Ophthalmol 2019 May 23. Epub 2019 May 23.

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.05.014DOI Listing
May 2019

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.

Ophthalmic Genet 2019 Apr 23;40(2):177-181. Epub 2019 Apr 23.

a Department of Computational Biology, Unit of Medical Genetics , University of Lausanne , Lausanne , Switzerland.

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http://dx.doi.org/10.1080/13816810.2019.1605391DOI Listing
April 2019

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Am J Hum Genet 2017 Oct;101(4):623-629

Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, 1011 Lausanne, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 9HN, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173036
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http://dx.doi.org/10.1016/j.ajhg.2017.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630195PMC
October 2017

OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

Ophthalmic Genet 2016 12 18;37(4):366-368. Epub 2016 Feb 18.

b Department of Computational Biology , Unit of Medical Genetics, University of Lausanne , Lausanne , Switzerland.

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http://dx.doi.org/10.3109/13816810.2015.1081252DOI Listing
December 2016

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

Authors:
Thomas W Winkler Anne E Justice Mariaelisa Graff Llilda Barata Mary F Feitosa Su Chu Jacek Czajkowski Tõnu Esko Tove Fall Tuomas O Kilpeläinen Yingchang Lu Reedik Mägi Evelin Mihailov Tune H Pers Sina Rüeger Alexander Teumer Georg B Ehret Teresa Ferreira Nancy L Heard-Costa Juha Karjalainen Vasiliki Lagou Anubha Mahajan Michael D Neinast Inga Prokopenko Jeannette Simino Tanya M Teslovich Rick Jansen Harm-Jan Westra Charles C White Devin Absher Tarunveer S Ahluwalia Shafqat Ahmad Eva Albrecht Alexessander Couto Alves Jennifer L Bragg-Gresham Anton J M de Craen Joshua C Bis Amélie Bonnefond Gabrielle Boucher Gemma Cadby Yu-Ching Cheng Charleston W K Chiang Graciela Delgado Ayse Demirkan Nicole Dueker Niina Eklund Gudny Eiriksdottir Joel Eriksson Bjarke Feenstra Krista Fischer Francesca Frau Tessel E Galesloot Frank Geller Anuj Goel Mathias Gorski Tanja B Grammer Stefan Gustafsson Saskia Haitjema Jouke-Jan Hottenga Jennifer E Huffman Anne U Jackson Kevin B Jacobs Åsa Johansson Marika Kaakinen Marcus E Kleber Jari Lahti Irene Mateo Leach Benjamin Lehne Youfang Liu Ken Sin Lo Mattias Lorentzon Jian'an Luan Pamela A F Madden Massimo Mangino Barbara McKnight Carolina Medina-Gomez Keri L Monda May E Montasser Gabriele Müller Martina Müller-Nurasyid Ilja M Nolte Kalliope Panoutsopoulou Laura Pascoe Lavinia Paternoster Nigel W Rayner Frida Renström Federica Rizzi Lynda M Rose Kathy A Ryan Perttu Salo Serena Sanna Hubert Scharnagl Jianxin Shi Albert Vernon Smith Lorraine Southam Alena Stančáková Valgerdur Steinthorsdottir Rona J Strawbridge Yun Ju Sung Ioanna Tachmazidou Toshiko Tanaka Gudmar Thorleifsson Stella Trompet Natalia Pervjakova Jonathan P Tyrer Liesbeth Vandenput Sander W van der Laan Nathalie van der Velde Jessica van Setten Jana V van Vliet-Ostaptchouk Niek Verweij Efthymia Vlachopoulou Lindsay L Waite Sophie R Wang Zhaoming Wang Sarah H Wild Christina Willenborg James F Wilson Andrew Wong Jian Yang Loïc Yengo Laura M Yerges-Armstrong Lei Yu Weihua Zhang Jing Hua Zhao Ehm A Andersson Stephan J L Bakker Damiano Baldassarre Karina Banasik Matteo Barcella Cristina Barlassina Claire Bellis Paola Benaglio John Blangero Matthias Blüher Fabrice Bonnet Lori L Bonnycastle Heather A Boyd Marcel Bruinenberg Aron S Buchman Harry Campbell Yii-Der Ida Chen Peter S Chines Simone Claudi-Boehm John Cole Francis S Collins Eco J C de Geus Lisette C P G M de Groot Maria Dimitriou Jubao Duan Stefan Enroth Elodie Eury Aliki-Eleni Farmaki Nita G Forouhi Nele Friedrich Pablo V Gejman Bruna Gigante Nicola Glorioso Alan S Go Omri Gottesman Jürgen Gräßler Harald Grallert Niels Grarup Yu-Mei Gu Linda Broer Annelies C Ham Torben Hansen Tamara B Harris Catharina A Hartman Maija Hassinen Nicholas Hastie Andrew T Hattersley Andrew C Heath Anjali K Henders Dena Hernandez Hans Hillege Oddgeir Holmen Kees G Hovingh Jennie Hui Lise L Husemoen Nina Hutri-Kähönen Pirro G Hysi Thomas Illig Philip L De Jager Shapour Jalilzadeh Torben Jørgensen J Wouter Jukema Markus Juonala Stavroula Kanoni Maria Karaleftheri Kay Tee Khaw Leena Kinnunen Steven J Kittner Wolfgang Koenig Ivana Kolcic Peter Kovacs Nikolaj T Krarup Wolfgang Kratzer Janine Krüger Diana Kuh Meena Kumari Theodosios Kyriakou Claudia Langenberg Lars Lannfelt Chiara Lanzani Vaneet Lotay Lenore J Launer Karin Leander Jaana Lindström Allan Linneberg Yan-Ping Liu Stéphane Lobbens Robert Luben Valeriya Lyssenko Satu Männistö Patrik K Magnusson Wendy L McArdle Cristina Menni Sigrun Merger Lili Milani Grant W Montgomery Andrew P Morris Narisu Narisu Mari Nelis Ken K Ong Aarno Palotie Louis Pérusse Irene Pichler Maria G Pilia Anneli Pouta Myriam Rheinberger Rasmus Ribel-Madsen Marcus Richards Kenneth M Rice Treva K Rice Carlo Rivolta Veikko Salomaa Alan R Sanders Mark A Sarzynski Salome Scholtens Robert A Scott William R Scott Sylvain Sebert Sebanti Sengupta Bengt Sennblad Thomas Seufferlein Angela Silveira P Eline Slagboom Jan H Smit Thomas H Sparsø Kathleen Stirrups Ronald P Stolk Heather M Stringham Morris A Swertz Amy J Swift Ann-Christine Syvänen Sian-Tsung Tan Barbara Thorand Anke Tönjes Angelo Tremblay Emmanouil Tsafantakis Peter J van der Most Uwe Völker Marie-Claude Vohl Judith M Vonk Melanie Waldenberger Ryan W Walker Roman Wennauer Elisabeth Widén Gonneke Willemsen Tom Wilsgaard Alan F Wright M Carola Zillikens Suzanne C van Dijk Natasja M van Schoor Folkert W Asselbergs Paul I W de Bakker Jacques S Beckmann John Beilby David A Bennett Richard N Bergman Sven Bergmann Carsten A Böger Bernhard O Boehm Eric Boerwinkle Dorret I Boomsma Stefan R Bornstein Erwin P Bottinger Claude Bouchard John C Chambers Stephen J Chanock Daniel I Chasman Francesco Cucca Daniele Cusi George Dedoussis Jeanette Erdmann Johan G Eriksson Denis A Evans Ulf de Faire Martin Farrall Luigi Ferrucci Ian Ford Lude Franke Paul W Franks Philippe Froguel Ron T Gansevoort Christian Gieger Henrik Grönberg Vilmundur Gudnason Ulf Gyllensten Per Hall Anders Hamsten Pim van der Harst Caroline Hayward Markku Heliövaara Christian Hengstenberg Andrew A Hicks Aroon Hingorani Albert Hofman Frank Hu Heikki V Huikuri Kristian Hveem Alan L James Joanne M Jordan Antti Jula Mika Kähönen Eero Kajantie Sekar Kathiresan Lambertus A L M Kiemeney Mika Kivimaki Paul B Knekt Heikki A Koistinen Jaspal S Kooner Seppo Koskinen Johanna Kuusisto Winfried Maerz Nicholas G Martin Markku Laakso Timo A Lakka Terho Lehtimäki Guillaume Lettre Douglas F Levinson Lars Lind Marja-Liisa Lokki Pekka Mäntyselkä Mads Melbye Andres Metspalu Braxton D Mitchell Frans L Moll Jeffrey C Murray Arthur W Musk Markku S Nieminen Inger Njølstad Claes Ohlsson Albertine J Oldehinkel Ben A Oostra Lyle J Palmer James S Pankow Gerard Pasterkamp Nancy L Pedersen Oluf Pedersen Brenda W Penninx Markus Perola Annette Peters Ozren Polašek Peter P Pramstaller Bruce M Psaty Lu Qi Thomas Quertermous Olli T Raitakari Tuomo Rankinen Rainer Rauramaa Paul M Ridker John D Rioux Fernando Rivadeneira Jerome I Rotter Igor Rudan Hester M den Ruijter Juha Saltevo Naveed Sattar Heribert Schunkert Peter E H Schwarz Alan R Shuldiner Juha Sinisalo Harold Snieder Thorkild I A Sørensen Tim D Spector Jan A Staessen Bandinelli Stefania Unnur Thorsteinsdottir Michael Stumvoll Jean-Claude Tardif Elena Tremoli Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa André L M Verbeek Sita H Vermeulen Jorma S Viikari Veronique Vitart Henry Völzke Peter Vollenweider Gérard Waeber Mark Walker Henri Wallaschofski Nicholas J Wareham Hugh Watkins Eleftheria Zeggini Aravinda Chakravarti Deborah J Clegg L Adrienne Cupples Penny Gordon-Larsen Cashell E Jaquish D C Rao Goncalo R Abecasis Themistocles L Assimes Inês Barroso Sonja I Berndt Michael Boehnke Panos Deloukas Caroline S Fox Leif C Groop David J Hunter Erik Ingelsson Robert C Kaplan Mark I McCarthy Karen L Mohlke Jeffrey R O'Connell David Schlessinger David P Strachan Kari Stefansson Cornelia M van Duijn Joel N Hirschhorn Cecilia M Lindgren Iris M Heid Kari E North Ingrid B Borecki Zoltán Kutalik Ruth J F Loos

PLoS Genet 2016 06 29;12(6):e1006166. Epub 2016 Jun 29.

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http://dx.doi.org/10.1371/journal.pgen.1006166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927064PMC
June 2016

UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation.

J Hum Genet 2016 Apr 10;61(4):361-2. Epub 2015 Dec 10.

Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/jhg.2015.152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399153PMC
April 2016

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

Authors:
Thomas W Winkler Anne E Justice Mariaelisa Graff Llilda Barata Mary F Feitosa Su Chu Jacek Czajkowski Tõnu Esko Tove Fall Tuomas O Kilpeläinen Yingchang Lu Reedik Mägi Evelin Mihailov Tune H Pers Sina Rüeger Alexander Teumer Georg B Ehret Teresa Ferreira Nancy L Heard-Costa Juha Karjalainen Vasiliki Lagou Anubha Mahajan Michael D Neinast Inga Prokopenko Jeannette Simino Tanya M Teslovich Rick Jansen Harm-Jan Westra Charles C White Devin Absher Tarunveer S Ahluwalia Shafqat Ahmad Eva Albrecht Alexessander Couto Alves Jennifer L Bragg-Gresham Anton J M de Craen Joshua C Bis Amélie Bonnefond Gabrielle Boucher Gemma Cadby Yu-Ching Cheng Charleston W K Chiang Graciela Delgado Ayse Demirkan Nicole Dueker Niina Eklund Gudny Eiriksdottir Joel Eriksson Bjarke Feenstra Krista Fischer Francesca Frau Tessel E Galesloot Frank Geller Anuj Goel Mathias Gorski Tanja B Grammer Stefan Gustafsson Saskia Haitjema Jouke-Jan Hottenga Jennifer E Huffman Anne U Jackson Kevin B Jacobs Åsa Johansson Marika Kaakinen Marcus E Kleber Jari Lahti Irene Mateo Leach Benjamin Lehne Youfang Liu Ken Sin Lo Mattias Lorentzon Jian'an Luan Pamela A F Madden Massimo Mangino Barbara McKnight Carolina Medina-Gomez Keri L Monda May E Montasser Gabriele Müller Martina Müller-Nurasyid Ilja M Nolte Kalliope Panoutsopoulou Laura Pascoe Lavinia Paternoster Nigel W Rayner Frida Renström Federica Rizzi Lynda M Rose Kathy A Ryan Perttu Salo Serena Sanna Hubert Scharnagl Jianxin Shi Albert Vernon Smith Lorraine Southam Alena Stančáková Valgerdur Steinthorsdottir Rona J Strawbridge Yun Ju Sung Ioanna Tachmazidou Toshiko Tanaka Gudmar Thorleifsson Stella Trompet Natalia Pervjakova Jonathan P Tyrer Liesbeth Vandenput Sander W van der Laan Nathalie van der Velde Jessica van Setten Jana V van Vliet-Ostaptchouk Niek Verweij Efthymia Vlachopoulou Lindsay L Waite Sophie R Wang Zhaoming Wang Sarah H Wild Christina Willenborg James F Wilson Andrew Wong Jian Yang Loïc Yengo Laura M Yerges-Armstrong Lei Yu Weihua Zhang Jing Hua Zhao Ehm A Andersson Stephan J L Bakker Damiano Baldassarre Karina Banasik Matteo Barcella Cristina Barlassina Claire Bellis Paola Benaglio John Blangero Matthias Blüher Fabrice Bonnet Lori L Bonnycastle Heather A Boyd Marcel Bruinenberg Aron S Buchman Harry Campbell Yii-Der Ida Chen Peter S Chines Simone Claudi-Boehm John Cole Francis S Collins Eco J C de Geus Lisette C P G M de Groot Maria Dimitriou Jubao Duan Stefan Enroth Elodie Eury Aliki-Eleni Farmaki Nita G Forouhi Nele Friedrich Pablo V Gejman Bruna Gigante Nicola Glorioso Alan S Go Omri Gottesman Jürgen Gräßler Harald Grallert Niels Grarup Yu-Mei Gu Linda Broer Annelies C Ham Torben Hansen Tamara B Harris Catharina A Hartman Maija Hassinen Nicholas Hastie Andrew T Hattersley Andrew C Heath Anjali K Henders Dena Hernandez Hans Hillege Oddgeir Holmen Kees G Hovingh Jennie Hui Lise L Husemoen Nina Hutri-Kähönen Pirro G Hysi Thomas Illig Philip L De Jager Shapour Jalilzadeh Torben Jørgensen J Wouter Jukema Markus Juonala Stavroula Kanoni Maria Karaleftheri Kay Tee Khaw Leena Kinnunen Steven J Kittner Wolfgang Koenig Ivana Kolcic Peter Kovacs Nikolaj T Krarup Wolfgang Kratzer Janine Krüger Diana Kuh Meena Kumari Theodosios Kyriakou Claudia Langenberg Lars Lannfelt Chiara Lanzani Vaneet Lotay Lenore J Launer Karin Leander Jaana Lindström Allan Linneberg Yan-Ping Liu Stéphane Lobbens Robert Luben Valeriya Lyssenko Satu Männistö Patrik K Magnusson Wendy L McArdle Cristina Menni Sigrun Merger Lili Milani Grant W Montgomery Andrew P Morris Narisu Narisu Mari Nelis Ken K Ong Aarno Palotie Louis Pérusse Irene Pichler Maria G Pilia Anneli Pouta Myriam Rheinberger Rasmus Ribel-Madsen Marcus Richards Kenneth M Rice Treva K Rice Carlo Rivolta Veikko Salomaa Alan R Sanders Mark A Sarzynski Salome Scholtens Robert A Scott William R Scott Sylvain Sebert Sebanti Sengupta Bengt Sennblad Thomas Seufferlein Angela Silveira P Eline Slagboom Jan H Smit Thomas H Sparsø Kathleen Stirrups Ronald P Stolk Heather M Stringham Morris A Swertz Amy J Swift Ann-Christine Syvänen Sian-Tsung Tan Barbara Thorand Anke Tönjes Angelo Tremblay Emmanouil Tsafantakis Peter J van der Most Uwe Völker Marie-Claude Vohl Judith M Vonk Melanie Waldenberger Ryan W Walker Roman Wennauer Elisabeth Widén Gonneke Willemsen Tom Wilsgaard Alan F Wright M Carola Zillikens Suzanne C van Dijk Natasja M van Schoor Folkert W Asselbergs Paul I W de Bakker Jacques S Beckmann John Beilby David A Bennett Richard N Bergman Sven Bergmann Carsten A Böger Bernhard O Boehm Eric Boerwinkle Dorret I Boomsma Stefan R Bornstein Erwin P Bottinger Claude Bouchard John C Chambers Stephen J Chanock Daniel I Chasman Francesco Cucca Daniele Cusi George Dedoussis Jeanette Erdmann Johan G Eriksson Denis A Evans Ulf de Faire Martin Farrall Luigi Ferrucci Ian Ford Lude Franke Paul W Franks Philippe Froguel Ron T Gansevoort Christian Gieger Henrik Grönberg Vilmundur Gudnason Ulf Gyllensten Per Hall Anders Hamsten Pim van der Harst Caroline Hayward Markku Heliövaara Christian Hengstenberg Andrew A Hicks Aroon Hingorani Albert Hofman Frank Hu Heikki V Huikuri Kristian Hveem Alan L James Joanne M Jordan Antti Jula Mika Kähönen Eero Kajantie Sekar Kathiresan Lambertus A L M Kiemeney Mika Kivimaki Paul B Knekt Heikki A Koistinen Jaspal S Kooner Seppo Koskinen Johanna Kuusisto Winfried Maerz Nicholas G Martin Markku Laakso Timo A Lakka Terho Lehtimäki Guillaume Lettre Douglas F Levinson Lars Lind Marja-Liisa Lokki Pekka Mäntyselkä Mads Melbye Andres Metspalu Braxton D Mitchell Frans L Moll Jeffrey C Murray Arthur W Musk Markku S Nieminen Inger Njølstad Claes Ohlsson Albertine J Oldehinkel Ben A Oostra Lyle J Palmer James S Pankow Gerard Pasterkamp Nancy L Pedersen Oluf Pedersen Brenda W Penninx Markus Perola Annette Peters Ozren Polašek Peter P Pramstaller Bruce M Psaty Lu Qi Thomas Quertermous Olli T Raitakari Tuomo Rankinen Rainer Rauramaa Paul M Ridker John D Rioux Fernando Rivadeneira Jerome I Rotter Igor Rudan Hester M den Ruijter Juha Saltevo Naveed Sattar Heribert Schunkert Peter E H Schwarz Alan R Shuldiner Juha Sinisalo Harold Snieder Thorkild I A Sørensen Tim D Spector Jan A Staessen Bandinelli Stefania Unnur Thorsteinsdottir Michael Stumvoll Jean-Claude Tardif Elena Tremoli Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa André L M Verbeek Sita H Vermeulen Jorma S Viikari Veronique Vitart Henry Völzke Peter Vollenweider Gérard Waeber Mark Walker Henri Wallaschofski Nicholas J Wareham Hugh Watkins Eleftheria Zeggini Aravinda Chakravarti Deborah J Clegg L Adrienne Cupples Penny Gordon-Larsen Cashell E Jaquish D C Rao Goncalo R Abecasis Themistocles L Assimes Inês Barroso Sonja I Berndt Michael Boehnke Panos Deloukas Caroline S Fox Leif C Groop David J Hunter Erik Ingelsson Robert C Kaplan Mark I McCarthy Karen L Mohlke Jeffrey R O'Connell David Schlessinger David P Strachan Kari Stefansson Cornelia M van Duijn Joel N Hirschhorn Cecilia M Lindgren Iris M Heid Kari E North Ingrid B Borecki Zoltán Kutalik Ruth J F Loos

PLoS Genet 2015 Oct 1;11(10):e1005378. Epub 2015 Oct 1.

MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom; The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; The Department of Preventive Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; The Genetics of Obesity and Related Metabolic Traits Program, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; The Mindich Child Health and Development Institute, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591371PMC
October 2015

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Brain 2015 Aug 13;138(Pt 8):2161-72. Epub 2015 Jun 13.

2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium 3 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium 16 Department of Neurology, Antwerp University Hospital, Antwerpen 2610, Belgium.

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http://dx.doi.org/10.1093/brain/awv158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840952PMC
August 2015

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.

Genet Med 2015 Apr 25;17(4):285-90. Epub 2014 Sep 25.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/gim.2014.132DOI Listing
April 2015

Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.

Cell Mol Life Sci 2015 Apr 30;72(8):1463-71. Epub 2014 Dec 30.

Department of Medical Genetics, University of Lausanne, Rue Du Bugnon 27, 1005, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00018-014-1807-9DOI Listing
April 2015

A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.

J Neurosci 2015 Apr;35(15):6093-106

INSERM Unité Mixte de Recherche Scientifique 1138, Team 17, Centre de Recherche des Cordeliers, 75006 Paris, France, Pierre and Marie Curie University, 75005 Paris, France, Paris Descartes University, 75006 Paris, France, Department of Ophthalmology of University of Lausanne, Jules Gonin Hospital, Fondation Asile des Aveugles, 1000 Lausanne, Switzerland

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http://dx.doi.org/10.1523/JNEUROSCI.3412-14.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397606PMC
April 2015

Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds.

Environ Microbiol 2015 Jan 28;17(1):91-104. Epub 2014 May 28.

Bioproduction Research Institute, National Institute of Advanced Industrial Science and Technology (AIST), Tsukuba, Ibaraki, 305-8566, Japan; Department of Fundamental Microbiology, University of Lausanne, 1015, Lausanne, Switzerland.

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http://dx.doi.org/10.1111/1462-2920.12498DOI Listing
January 2015

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

PLoS One 2014 20;9(3):e92479. Epub 2014 Mar 20.

The Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0092479PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961368PMC
November 2014

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.

PLoS Genet 2014 Jul 31;10(7):e1004508. Epub 2014 Jul 31.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland; Swiss Institute of Bioinformatics, Lausanne, Switzerland; Institute of Social and Preventive Medicine (IUMSP), Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.

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http://dx.doi.org/10.1371/journal.pgen.1004508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117451PMC
July 2014

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.

Authors:
Joshua C Randall Thomas W Winkler Zoltán Kutalik Sonja I Berndt Anne U Jackson Keri L Monda Tuomas O Kilpeläinen Tõnu Esko Reedik Mägi Shengxu Li Tsegaselassie Workalemahu Mary F Feitosa Damien C Croteau-Chonka Felix R Day Tove Fall Teresa Ferreira Stefan Gustafsson Adam E Locke Iain Mathieson Andre Scherag Sailaja Vedantam Andrew R Wood Liming Liang Valgerdur Steinthorsdottir Gudmar Thorleifsson Emmanouil T Dermitzakis Antigone S Dimas Fredrik Karpe Josine L Min George Nicholson Deborah J Clegg Thomas Person Jon P Krohn Sabrina Bauer Christa Buechler Kristina Eisinger Amélie Bonnefond Philippe Froguel Jouke-Jan Hottenga Inga Prokopenko Lindsay L Waite Tamara B Harris Albert Vernon Smith Alan R Shuldiner Wendy L McArdle Mark J Caulfield Patricia B Munroe Henrik Grönberg Yii-Der Ida Chen Guo Li Jacques S Beckmann Toby Johnson Unnur Thorsteinsdottir Maris Teder-Laving Kay-Tee Khaw Nicholas J Wareham Jing Hua Zhao Najaf Amin Ben A Oostra Aldi T Kraja Michael A Province L Adrienne Cupples Nancy L Heard-Costa Jaakko Kaprio Samuli Ripatti Ida Surakka Francis S Collins Jouko Saramies Jaakko Tuomilehto Antti Jula Veikko Salomaa Jeanette Erdmann Christian Hengstenberg Christina Loley Heribert Schunkert Claudia Lamina H Erich Wichmann Eva Albrecht Christian Gieger Andrew A Hicks Asa Johansson Peter P Pramstaller Sekar Kathiresan Elizabeth K Speliotes Brenda Penninx Anna-Liisa Hartikainen Marjo-Riitta Jarvelin Ulf Gyllensten Dorret I Boomsma Harry Campbell James F Wilson Stephen J Chanock Martin Farrall Anuj Goel Carolina Medina-Gomez Fernando Rivadeneira Karol Estrada André G Uitterlinden Albert Hofman M Carola Zillikens Martin den Heijer Lambertus A Kiemeney Andrea Maschio Per Hall Jonathan Tyrer Alexander Teumer Henry Völzke Peter Kovacs Anke Tönjes Massimo Mangino Tim D Spector Caroline Hayward Igor Rudan Alistair S Hall Nilesh J Samani Antony Paul Attwood Jennifer G Sambrook Joseph Hung Lyle J Palmer Marja-Liisa Lokki Juha Sinisalo Gabrielle Boucher Heikki Huikuri Mattias Lorentzon Claes Ohlsson Niina Eklund Johan G Eriksson Cristina Barlassina Carlo Rivolta Ilja M Nolte Harold Snieder Melanie M Van der Klauw Jana V Van Vliet-Ostaptchouk Pablo V Gejman Jianxin Shi Kevin B Jacobs Zhaoming Wang Stephan J L Bakker Irene Mateo Leach Gerjan Navis Pim van der Harst Nicholas G Martin Sarah E Medland Grant W Montgomery Jian Yang Daniel I Chasman Paul M Ridker Lynda M Rose Terho Lehtimäki Olli Raitakari Devin Absher Carlos Iribarren Hanneke Basart Kees G Hovingh Elina Hyppönen Chris Power Denise Anderson John P Beilby Jennie Hui Jennifer Jolley Hendrik Sager Stefan R Bornstein Peter E H Schwarz Kati Kristiansson Markus Perola Jaana Lindström Amy J Swift Matti Uusitupa Mustafa Atalay Timo A Lakka Rainer Rauramaa Jennifer L Bolton Gerry Fowkes Ross M Fraser Jackie F Price Krista Fischer Kaarel Krjutå Kov Andres Metspalu Evelin Mihailov Claudia Langenberg Jian'an Luan Ken K Ong Peter S Chines Sirkka M Keinanen-Kiukaanniemi Timo E Saaristo Sarah Edkins Paul W Franks Göran Hallmans Dmitry Shungin Andrew David Morris Colin N A Palmer Raimund Erbel Susanne Moebus Markus M Nöthen Sonali Pechlivanis Kristian Hveem Narisu Narisu Anders Hamsten Steve E Humphries Rona J Strawbridge Elena Tremoli Harald Grallert Barbara Thorand Thomas Illig Wolfgang Koenig Martina Müller-Nurasyid Annette Peters Bernhard O Boehm Marcus E Kleber Winfried März Bernhard R Winkelmann Johanna Kuusisto Markku Laakso Dominique Arveiler Giancarlo Cesana Kari Kuulasmaa Jarmo Virtamo John W G Yarnell Diana Kuh Andrew Wong Lars Lind Ulf de Faire Bruna Gigante Patrik K E Magnusson Nancy L Pedersen George Dedoussis Maria Dimitriou Genovefa Kolovou Stavroula Kanoni Kathleen Stirrups Lori L Bonnycastle Inger Njølstad Tom Wilsgaard Andrea Ganna Emil Rehnberg Aroon Hingorani Mika Kivimaki Meena Kumari Themistocles L Assimes Inês Barroso Michael Boehnke Ingrid B Borecki Panos Deloukas Caroline S Fox Timothy Frayling Leif C Groop Talin Haritunians David Hunter Erik Ingelsson Robert Kaplan Karen L Mohlke Jeffrey R O'Connell David Schlessinger David P Strachan Kari Stefansson Cornelia M van Duijn Gonçalo R Abecasis Mark I McCarthy Joel N Hirschhorn Lu Qi Ruth J F Loos Cecilia M Lindgren Kari E North Iris M Heid

PLoS Genet 2013 Jun 6;9(6):e1003500. Epub 2013 Jun 6.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1003500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674993PMC
June 2013

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

PLoS Genet 2012 8;8(11):e1003040. Epub 2012 Nov 8.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1371/journal.pgen.1003040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3493449PMC
May 2013

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.

PLoS One 2012 27;7(7):e41902. Epub 2012 Jul 27.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0041902PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407128PMC
January 2013

Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.

Hypertension 2012 Feb 19;59(2):248-55. Epub 2011 Dec 19.

Department of Medicine, Surgery, and Dentistry, Graduate School of Nephrology, University of Milano, Division of Nephrology, San Paolo Hospital, Milano, Viale Ortles 22/4, 20139 Milano, Italy.

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.111.181990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272453PMC
February 2012

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.

Hum Mutat 2011 Jun 24;32(6):E2246-58. Epub 2011 Feb 24.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/humu.21485DOI Listing
June 2011

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.

Am J Hum Genet 2011 May 5;88(5):643-9. Epub 2011 May 5.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ajhg.2011.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146730PMC
May 2011

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

Authors:
Hana Lango Allen Karol Estrada Guillaume Lettre Sonja I Berndt Michael N Weedon Fernando Rivadeneira Cristen J Willer Anne U Jackson Sailaja Vedantam Soumya Raychaudhuri Teresa Ferreira Andrew R Wood Robert J Weyant Ayellet V Segrè Elizabeth K Speliotes Eleanor Wheeler Nicole Soranzo Ju-Hyun Park Jian Yang Daniel Gudbjartsson Nancy L Heard-Costa Joshua C Randall Lu Qi Albert Vernon Smith Reedik Mägi Tomi Pastinen Liming Liang Iris M Heid Jian'an Luan Gudmar Thorleifsson Thomas W Winkler Michael E Goddard Ken Sin Lo Cameron Palmer Tsegaselassie Workalemahu Yurii S Aulchenko Asa Johansson M Carola Zillikens Mary F Feitosa Tõnu Esko Toby Johnson Shamika Ketkar Peter Kraft Massimo Mangino Inga Prokopenko Devin Absher Eva Albrecht Florian Ernst Nicole L Glazer Caroline Hayward Jouke-Jan Hottenga Kevin B Jacobs Joshua W Knowles Zoltán Kutalik Keri L Monda Ozren Polasek Michael Preuss Nigel W Rayner Neil R Robertson Valgerdur Steinthorsdottir Jonathan P Tyrer Benjamin F Voight Fredrik Wiklund Jianfeng Xu Jing Hua Zhao Dale R Nyholt Niina Pellikka Markus Perola John R B Perry Ida Surakka Mari-Liis Tammesoo Elizabeth L Altmaier Najaf Amin Thor Aspelund Tushar Bhangale Gabrielle Boucher Daniel I Chasman Constance Chen Lachlan Coin Matthew N Cooper Anna L Dixon Quince Gibson Elin Grundberg Ke Hao M Juhani Junttila Lee M Kaplan Johannes Kettunen Inke R König Tony Kwan Robert W Lawrence Douglas F Levinson Mattias Lorentzon Barbara McKnight Andrew P Morris Martina Müller Julius Suh Ngwa Shaun Purcell Suzanne Rafelt Rany M Salem Erika Salvi Serena Sanna Jianxin Shi Ulla Sovio John R Thompson Michael C Turchin Liesbeth Vandenput Dominique J Verlaan Veronique Vitart Charles C White Andreas Ziegler Peter Almgren Anthony J Balmforth Harry Campbell Lorena Citterio Alessandro De Grandi Anna Dominiczak Jubao Duan Paul Elliott Roberto Elosua Johan G Eriksson Nelson B Freimer Eco J C Geus Nicola Glorioso Shen Haiqing Anna-Liisa Hartikainen Aki S Havulinna Andrew A Hicks Jennie Hui Wilmar Igl Thomas Illig Antti Jula Eero Kajantie Tuomas O Kilpeläinen Markku Koiranen Ivana Kolcic Seppo Koskinen Peter Kovacs Jaana Laitinen Jianjun Liu Marja-Liisa Lokki Ana Marusic Andrea Maschio Thomas Meitinger Antonella Mulas Guillaume Paré Alex N Parker John F Peden Astrid Petersmann Irene Pichler Kirsi H Pietiläinen Anneli Pouta Martin Ridderstråle Jerome I Rotter Jennifer G Sambrook Alan R Sanders Carsten Oliver Schmidt Juha Sinisalo Jan H Smit Heather M Stringham G Bragi Walters Elisabeth Widen Sarah H Wild Gonneke Willemsen Laura Zagato Lina Zgaga Paavo Zitting Helene Alavere Martin Farrall Wendy L McArdle Mari Nelis Marjolein J Peters Samuli Ripatti Joyce B J van Meurs Katja K Aben Kristin G Ardlie Jacques S Beckmann John P Beilby Richard N Bergman Sven Bergmann Francis S Collins Daniele Cusi Martin den Heijer Gudny Eiriksdottir Pablo V Gejman Alistair S Hall Anders Hamsten Heikki V Huikuri Carlos Iribarren Mika Kähönen Jaakko Kaprio Sekar Kathiresan Lambertus Kiemeney Thomas Kocher Lenore J Launer Terho Lehtimäki Olle Melander Tom H Mosley Arthur W Musk Markku S Nieminen Christopher J O'Donnell Claes Ohlsson Ben Oostra Lyle J Palmer Olli Raitakari Paul M Ridker John D Rioux Aila Rissanen Carlo Rivolta Heribert Schunkert Alan R Shuldiner David S Siscovick Michael Stumvoll Anke Tönjes Jaakko Tuomilehto Gert-Jan van Ommen Jorma Viikari Andrew C Heath Nicholas G Martin Grant W Montgomery Michael A Province Manfred Kayser Alice M Arnold Larry D Atwood Eric Boerwinkle Stephen J Chanock Panos Deloukas Christian Gieger Henrik Grönberg Per Hall Andrew T Hattersley Christian Hengstenberg Wolfgang Hoffman G Mark Lathrop Veikko Salomaa Stefan Schreiber Manuela Uda Dawn Waterworth Alan F Wright Themistocles L Assimes Inês Barroso Albert Hofman Karen L Mohlke Dorret I Boomsma Mark J Caulfield L Adrienne Cupples Jeanette Erdmann Caroline S Fox Vilmundur Gudnason Ulf Gyllensten Tamara B Harris Richard B Hayes Marjo-Riitta Jarvelin Vincent Mooser Patricia B Munroe Willem H Ouwehand Brenda W Penninx Peter P Pramstaller Thomas Quertermous Igor Rudan Nilesh J Samani Timothy D Spector Henry Völzke Hugh Watkins James F Wilson Leif C Groop Talin Haritunians Frank B Hu Robert C Kaplan Andres Metspalu Kari E North David Schlessinger Nicholas J Wareham David J Hunter Jeffrey R O'Connell David P Strachan H-Erich Wichmann Ingrid B Borecki Cornelia M van Duijn Eric E Schadt Unnur Thorsteinsdottir Leena Peltonen André G Uitterlinden Peter M Visscher Nilanjan Chatterjee Ruth J F Loos Michael Boehnke Mark I McCarthy Erik Ingelsson Cecilia M Lindgren Gonçalo R Abecasis Kari Stefansson Timothy M Frayling Joel N Hirschhorn

Nature 2010 Oct 29;467(7317):832-8. Epub 2010 Sep 29.

Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter EX1 2LU, UK.

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http://dx.doi.org/10.1038/nature09410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955183PMC
October 2010

Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.

PLoS One 2010 Sep 29;5(9). Epub 2010 Sep 29.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0013071PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947511PMC
September 2010

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

Mol Vis 2009 Dec 8;15:2627-33. Epub 2009 Dec 8.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790479PMC
December 2009

Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia.

Psychiatr Genet 2009 Aug;19(4):201-8

Department of Psychiatry, Center for Psychiatric Neuroscience, Lausanne, Switzerland.

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http://dx.doi.org/10.1097/YPG.0b013e32832cef21DOI Listing
August 2009

PRPF31 alternative splicing and expression in human retina.

Ophthalmic Genet 2009 Jun;30(2):76-83

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://www.tandfonline.com/doi/full/10.1080/1381681090274462
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http://dx.doi.org/10.1080/13816810902744621DOI Listing
June 2009

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.

Hum Mol Genet 2008 Oct 18;17(20):3154-65. Epub 2008 Jul 18.

Department of Medical Genetics, University of Lausanne, Rue du Bugnon 27, Lausanne 1005, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddn212DOI Listing
October 2008

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.

Mol Vis 2006 Dec 5;12:1511-5. Epub 2006 Dec 5.

Harvard Medical School, Massachusetts Eye and Ear Infirmary, Ocular Molecular Genetics Institute and The Berman-Gund Laboratory for the Study of Retinal Degenerations, Boston, MA, USA.

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December 2006

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

Hum Mutat 2006 Jul;27(7):644-53

Ocular Molecular Genetics Institute, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.

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http://doi.wiley.com/10.1002/humu.20325
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http://dx.doi.org/10.1002/humu.20325DOI Listing
July 2006

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Exp Eye Res 2004 Aug;79(2):167-73

Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.exer.2004.03.005DOI Listing
August 2004

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.

Mol Vis 2003 Feb 18;9:49-51. Epub 2003 Feb 18.

Ocular Molecular Genetics Institute and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.

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February 2003

Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.

J Biol Chem 2002 Nov 4;277(45):43288-300. Epub 2002 Sep 4.

Department of Ophthalmology and Visual Sciences, Molecular Biology and Pharmacology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1074/jbc.M207952200DOI Listing
November 2002

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Hum Mol Genet 2002 May;11(10):1219-27

Ocular Molecular Genetics Institute, Harvard Medical School and Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/11.10.1219DOI Listing
May 2002