Murray Brilliant

Murray Brilliant

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Murray Brilliant

Murray Brilliant

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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.

Authors:
Amand F Schmidt Michael V Holmes David Preiss Daniel I Swerdlow Spiros Denaxas Ghazaleh Fatemifar Rupert Faraway Chris Finan Dennis Valentine Zammy Fairhurst-Hunter Fernando Pires Hartwig Bernardo Lessa Horta Elina Hypponen Christine Power Max Moldovan Erik van Iperen Kees Hovingh Ilja Demuth Kristina Norman Elisabeth Steinhagen-Thiessen Juri Demuth Lars Bertram Christina M Lill Stefan Coassin Johann Willeit Stefan Kiechl Karin Willeit Dan Mason John Wright Richard Morris Goya Wanamethee Peter Whincup Yoav Ben-Shlomo Stela McLachlan Jackie F Price Mika Kivimaki Catherine Welch Adelaida Sanchez-Galvez Pedro Marques-Vidal Andrew Nicolaides Andrie G Panayiotou N Charlotte Onland-Moret Yvonne T van der Schouw Giuseppe Matullo Giovanni Fiorito Simonetta Guarrera Carlotta Sacerdote Nicholas J Wareham Claudia Langenberg Robert A Scott Jian'an Luan Martin Bobak Sofia Malyutina Andrzej Pająk Ruzena Kubinova Abdonas Tamosiunas Hynek Pikhart Niels Grarup Oluf Pedersen Torben Hansen Allan Linneberg Tine Jess Jackie Cooper Steve E Humphries Murray Brilliant Terrie Kitchner Hakon Hakonarson David S Carrell Catherine A McCarty Kirchner H Lester Eric B Larson David R Crosslin Mariza de Andrade Dan M Roden Joshua C Denny Cara Carty Stephen Hancock John Attia Elizabeth Holliday Rodney Scott Peter Schofield Martin O'Donnell Salim Yusuf Michael Chong Guillaume Pare Pim van der Harst M Abdullah Said Ruben N Eppinga Niek Verweij Harold Snieder Tim Christen D O Mook-Kanamori Stefan Gustafsson Lars Lind Erik Ingelsson Raha Pazoki Oscar Franco Albert Hofman Andre Uitterlinden Abbas Dehghan Alexander Teumer Sebastian Baumeister Marcus Dörr Markus M Lerch Uwe Völker Henry Völzke Joey Ward Jill P Pell Tom Meade Ingrid E Christophersen Anke H Maitland-van der Zee Ekaterina V Baranova Robin Young Ian Ford Archie Campbell Sandosh Padmanabhan Michiel L Bots Diederick E Grobbee Philippe Froguel Dorothée Thuillier Ronan Roussel Amélie Bonnefond Bertrand Cariou Melissa Smart Yanchun Bao Meena Kumari Anubha Mahajan Jemma C Hopewell Sudha Seshadri Caroline Dale Rui Providencia E Costa Paul M Ridker Daniel I Chasman Alex P Reiner Marylyn D Ritchie Leslie A Lange Alex J Cornish Sara E Dobbins Kari Hemminki Ben Kinnersley Marc Sanson Karim Labreche Matthias Simon Melissa Bondy Philip Law Helen Speedy James Allan Ni Li Molly Went Niels Weinhold Gareth Morgan Pieter Sonneveld Björn Nilsson Hartmut Goldschmidt Amit Sud Andreas Engert Markus Hansson Harry Hemingway Folkert W Asselbergs Riyaz S Patel Brendan J Keating Naveed Sattar Richard Houlston Juan P Casas Aroon D Hingorani

BMC Cardiovasc Disord 2019 Oct 29;19(1):240. Epub 2019 Oct 29.

Institute of Cardiovascular Science, University College London, 222 Euston Road, London, NW1 2DA, UK.

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http://dx.doi.org/10.1186/s12872-019-1187-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820948PMC
October 2019

Development of an Integrated Platform Using Multidisciplinary Real-World Data to Facilitate Biomarker Discovery for Medical Products.

Clin Transl Sci 2019 Aug 6. Epub 2019 Aug 6.

Center for Devices and Radiological Health, US Food and Drug Administration (CDRH/FDA), Silver Spring, Maryland, USA.

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http://dx.doi.org/10.1111/cts.12685DOI Listing
August 2019

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Authors:
Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen Grabe Struan F A Grant Niels Grarup Helen L Griffiths Megan L Grove Vilmundur Gudnason Stefan Gustafsson Jeff Haessler Hakon Hakonarson Anke R Hammerschlag Torben Hansen Kathleen Mullan Harris Tamara B Harris Andrew T Hattersley Christian T Have Caroline Hayward Liang He Nancy L Heard-Costa Andrew C Heath Iris M Heid Øyvind Helgeland Jussi Hernesniemi Alex W Hewitt Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Yao Hu Paul L Huang Jennifer E Huffman M Arfan Ikram Erik Ingelsson Anne U Jackson Jan-Håkan Jansson Gail P Jarvik Gorm B Jensen Yucheng Jia Stefan Johansson Marit E Jørgensen Torben Jørgensen J Wouter Jukema Bratati Kahali René S Kahn Mika Kähönen Pia R Kamstrup Stavroula Kanoni Jaakko Kaprio Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Sekar Kathiresan Frank Kee Lambertus A Kiemeney Eric Kim Hidetoshi Kitajima Pirjo Komulainen Jaspal S Kooner Charles Kooperberg Tellervo Korhonen Peter Kovacs Helena Kuivaniemi Zoltán Kutalik Kari Kuulasmaa Johanna Kuusisto Markku Laakso Timo A Lakka David Lamparter Ethan M Lange Leslie A Lange Claudia Langenberg Eric B Larson Nanette R Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Honghuang Lin Keng-Hung Lin Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Ching-Ti Liu Dajiang J Liu Yongmei Liu Ken S Lo Artitaya Lophatananon Andrew J Lotery Anu Loukola Jian'an Luan Steven A Lubitz Leo-Pekka Lyytikäinen Satu Männistö Gaëlle Marenne Angela L Mazul Mark I McCarthy Roberta McKean-Cowdin Sarah E Medland Karina Meidtner Lili Milani Vanisha Mistry Paul Mitchell Karen L Mohlke Leena Moilanen Marie Moitry Grant W Montgomery Dennis O Mook-Kanamori Carmel Moore Trevor A Mori Andrew D Morris Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Mike A Nalls Narisu Narisu Christopher P Nelson Matt Neville Sune F Nielsen Kjell Nikus Pål R Njølstad Børge G Nordestgaard Dale R Nyholt Jeffrey R O'Connel Michelle L O'Donoghue Loes M Olde Loohuis Roel A Ophoff Katharine R Owen Chris J Packard Sandosh Padmanabhan Colin N A Palmer Nicholette D Palmer Gerard Pasterkamp Aniruddh P Patel Alison Pattie Oluf Pedersen Peggy L Peissig Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Tune H Pers Thomas N Person Annette Peters Eva R B Petersen Patricia A Peyser Ailith Pirie Ozren Polasek Tinca J Polderman Hannu Puolijoki Olli T Raitakari Asif Rasheed Rainer Rauramaa Dermot F Reilly Frida Renström Myriam Rheinberger Paul M Ridker John D Rioux Manuel A Rivas David J Roberts Neil R Robertson Antonietta Robino Olov Rolandsson Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Yadav Sapkota Naveed Sattar Robert E Schoen Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo P Segura-Lepe Svati H Shah Wayne H-H Sheu Xueling Sim Andrew J Slater Kerrin S Small Albert V Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes John M Starr Kari Stefansson Valgerdur Steinthorsdottir Kathleen E Stirrups Konstantin Strauch Heather M Stringham Michael Stumvoll Liang Sun Praveen Surendran Amy J Swift Hayato Tada Katherine E Tansey Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Gudmar Thorleifsson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Gerard Tromp Stella Trompet Emmanouil Tsafantakis Jaakko Tuomilehto Anne Tybjaerg-Hansen Jonathan P Tyrer Rudolf Uher André G Uitterlinden Matti Uusitupa Sander W Laan Cornelia M Duijn Nienke Leeuwen Jessica van Setten Mauno Vanhala Anette Varbo Tibor V Varga Rohit Varma Digna R Velez Edwards Sita H Vermeulen Giovanni Veronesi Henrik Vestergaard Veronique Vitart Thomas F Vogt Uwe Völker Dragana Vuckovic Lynne E Wagenknecht Mark Walker Lars Wallentin Feijie Wang Carol A Wang Shuai Wang Yiqin Wang Erin B Ware Nicholas J Wareham Helen R Warren Dawn M Waterworth Jennifer Wessel Harvey D White Cristen J Willer James G Wilson Daniel R Witte Andrew R Wood Ying Wu Hanieh Yaghootkar Jie Yao Pang Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao Wei Zhao Wei Zhou Krina T Zondervan Jerome I Rotter John A Pospisilik Fernando Rivadeneira Ingrid B Borecki Panos Deloukas Timothy M Frayling Guillaume Lettre Kari E North Cecilia M Lindgren Joel N Hirschhorn Ruth J F Loos

Nat Genet 2019 Jul;51(7):1191-1192

Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-019-0447-2DOI Listing
July 2019

Novel locus for atopic dermatitis in African Americans and replication in European Americans.

J Allergy Clin Immunol 2019 Mar 9;143(3):1229-1231. Epub 2018 Nov 9.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jaci.2018.10.038DOI Listing
March 2019

Preliminary outcomes of preemptive warfarin pharmacogenetic testing at a large rural healthcare center.

Am J Health Syst Pharm 2019 02;76(6):387-397

Clinical Pharmacy Services, Marshfield Clinic Health Systems, Marshfield, WI.

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https://academic.oup.com/ajhp/article/76/6/387/5354462
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http://dx.doi.org/10.1093/ajhp/zxy072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6479622PMC
February 2019

Using machine learning to identify patterns of lifetime health problems in decedents with autism spectrum disorder.

Autism Res 2018 08 7;11(8):1120-1128. Epub 2018 May 7.

Waisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI, 53705.

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http://dx.doi.org/10.1002/aur.1960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203659PMC
August 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Authors:
Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen Grabe Struan F A Grant Niels Grarup Helen L Griffiths Megan L Grove Vilmundur Gudnason Stefan Gustafsson Jeff Haessler Hakon Hakonarson Anke R Hammerschlag Torben Hansen Kathleen Mullan Harris Tamara B Harris Andrew T Hattersley Christian T Have Caroline Hayward Liang He Nancy L Heard-Costa Andrew C Heath Iris M Heid Øyvind Helgeland Jussi Hernesniemi Alex W Hewitt Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Yao Hu Paul L Huang Jennifer E Huffman M Arfan Ikram Erik Ingelsson Anne U Jackson Jan-Håkan Jansson Gail P Jarvik Gorm B Jensen Yucheng Jia Stefan Johansson Marit E Jørgensen Torben Jørgensen J Wouter Jukema Bratati Kahali René S Kahn Mika Kähönen Pia R Kamstrup Stavroula Kanoni Jaakko Kaprio Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Sekar Kathiresan Frank Kee Lambertus A Kiemeney Eric Kim Hidetoshi Kitajima Pirjo Komulainen Jaspal S Kooner Charles Kooperberg Tellervo Korhonen Peter Kovacs Helena Kuivaniemi Zoltán Kutalik Kari Kuulasmaa Johanna Kuusisto Markku Laakso Timo A Lakka David Lamparter Ethan M Lange Leslie A Lange Claudia Langenberg Eric B Larson Nanette R Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Honghuang Lin Keng-Hung Lin Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Ching-Ti Liu Dajiang J Liu Yongmei Liu Ken S Lo Artitaya Lophatananon Andrew J Lotery Anu Loukola Jian'an Luan Steven A Lubitz Leo-Pekka Lyytikäinen Satu Männistö Gaëlle Marenne Angela L Mazul Mark I McCarthy Roberta McKean-Cowdin Sarah E Medland Karina Meidtner Lili Milani Vanisha Mistry Paul Mitchell Karen L Mohlke Leena Moilanen Marie Moitry Grant W Montgomery Dennis O Mook-Kanamori Carmel Moore Trevor A Mori Andrew D Morris Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Mike A Nalls Narisu Narisu Christopher P Nelson Matt Neville Sune F Nielsen Kjell Nikus Pål R Njølstad Børge G Nordestgaard Dale R Nyholt Jeffrey R O'Connel Michelle L O'Donoghue Loes M Olde Loohuis Roel A Ophoff Katharine R Owen Chris J Packard Sandosh Padmanabhan Colin N A Palmer Nicholette D Palmer Gerard Pasterkamp Aniruddh P Patel Alison Pattie Oluf Pedersen Peggy L Peissig Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Tune H Pers Thomas N Person Annette Peters Eva R B Petersen Patricia A Peyser Ailith Pirie Ozren Polasek Tinca J Polderman Hannu Puolijoki Olli T Raitakari Asif Rasheed Rainer Rauramaa Dermot F Reilly Frida Renström Myriam Rheinberger Paul M Ridker John D Rioux Manuel A Rivas David J Roberts Neil R Robertson Antonietta Robino Olov Rolandsson Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Yadav Sapkota Naveed Sattar Robert E Schoen Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo P Segura-Lepe Svati H Shah Wayne H-H Sheu Xueling Sim Andrew J Slater Kerrin S Small Albert V Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes John M Starr Kari Stefansson Valgerdur Steinthorsdottir Kathleen E Stirrups Konstantin Strauch Heather M Stringham Michael Stumvoll Liang Sun Praveen Surendran Amy J Swift Hayato Tada Katherine E Tansey Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Gudmar Thorleifsson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Gerard Tromp Stella Trompet Emmanouil Tsafantakis Jaakko Tuomilehto Anne Tybjaerg-Hansen Jonathan P Tyrer Rudolf Uher André G Uitterlinden Matti Uusitupa Sander W Laan Cornelia M Duijn Nienke Leeuwen Jessica van Setten Mauno Vanhala Anette Varbo Tibor V Varga Rohit Varma Digna R Velez Edwards Sita H Vermeulen Giovanni Veronesi Henrik Vestergaard Veronique Vitart Thomas F Vogt Uwe Völker Dragana Vuckovic Lynne E Wagenknecht Mark Walker Lars Wallentin Feijie Wang Carol A Wang Shuai Wang Yiqin Wang Erin B Ware Nicholas J Wareham Helen R Warren Dawn M Waterworth Jennifer Wessel Harvey D White Cristen J Willer James G Wilson Daniel R Witte Andrew R Wood Ying Wu Hanieh Yaghootkar Jie Yao Pang Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao Wei Zhou Krina T Zondervan Jerome I Rotter John A Pospisilik Fernando Rivadeneira Ingrid B Borecki Panos Deloukas Timothy M Frayling Guillaume Lettre Kari E North Cecilia M Lindgren Joel N Hirschhorn Ruth J F Loos

Nat Genet 2018 05;50(5):765-766

Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-018-0050-yDOI Listing
May 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Authors:
Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen Grabe Struan F A Grant Niels Grarup Helen L Griffiths Megan L Grove Vilmundur Gudnason Stefan Gustafsson Jeff Haessler Hakon Hakonarson Anke R Hammerschlag Torben Hansen Kathleen Mullan Harris Tamara B Harris Andrew T Hattersley Christian T Have Caroline Hayward Liang He Nancy L Heard-Costa Andrew C Heath Iris M Heid Øyvind Helgeland Jussi Hernesniemi Alex W Hewitt Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Yao Hu Paul L Huang Jennifer E Huffman M Arfan Ikram Erik Ingelsson Anne U Jackson Jan-Håkan Jansson Gail P Jarvik Gorm B Jensen Yucheng Jia Stefan Johansson Marit E Jørgensen Torben Jørgensen J Wouter Jukema Bratati Kahali René S Kahn Mika Kähönen Pia R Kamstrup Stavroula Kanoni Jaakko Kaprio Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Sekar Kathiresan Frank Kee Lambertus A Kiemeney Eric Kim Hidetoshi Kitajima Pirjo Komulainen Jaspal S Kooner Charles Kooperberg Tellervo Korhonen Peter Kovacs Helena Kuivaniemi Zoltán Kutalik Kari Kuulasmaa Johanna Kuusisto Markku Laakso Timo A Lakka David Lamparter Ethan M Lange Leslie A Lange Claudia Langenberg Eric B Larson Nanette R Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Honghuang Lin Keng-Hung Lin Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Ching-Ti Liu Dajiang J Liu Yongmei Liu Ken S Lo Artitaya Lophatananon Andrew J Lotery Anu Loukola Jian'an Luan Steven A Lubitz Leo-Pekka Lyytikäinen Satu Männistö Gaëlle Marenne Angela L Mazul Mark I McCarthy Roberta McKean-Cowdin Sarah E Medland Karina Meidtner Lili Milani Vanisha Mistry Paul Mitchell Karen L Mohlke Leena Moilanen Marie Moitry Grant W Montgomery Dennis O Mook-Kanamori Carmel Moore Trevor A Mori Andrew D Morris Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Mike A Nalls Narisu Narisu Christopher P Nelson Matt Neville Sune F Nielsen Kjell Nikus Pål R Njølstad Børge G Nordestgaard Dale R Nyholt Jeffrey R O'Connel Michelle L O'Donoghue Loes M Olde Loohuis Roel A Ophoff Katharine R Owen Chris J Packard Sandosh Padmanabhan Colin N A Palmer Nicholette D Palmer Gerard Pasterkamp Aniruddh P Patel Alison Pattie Oluf Pedersen Peggy L Peissig Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Tune H Pers Thomas N Person Annette Peters Eva R B Petersen Patricia A Peyser Ailith Pirie Ozren Polasek Tinca J Polderman Hannu Puolijoki Olli T Raitakari Asif Rasheed Rainer Rauramaa Dermot F Reilly Frida Renström Myriam Rheinberger Paul M Ridker John D Rioux Manuel A Rivas David J Roberts Neil R Robertson Antonietta Robino Olov Rolandsson Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Yadav Sapkota Naveed Sattar Robert E Schoen Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo P Segura-Lepe Svati H Shah Wayne H-H Sheu Xueling Sim Andrew J Slater Kerrin S Small Albert V Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes John M Starr Kari Stefansson Valgerdur Steinthorsdottir Kathleen E Stirrups Konstantin Strauch Heather M Stringham Michael Stumvoll Liang Sun Praveen Surendran Amy J Swift Hayato Tada Katherine E Tansey Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Gudmar Thorleifsson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Gerard Tromp Stella Trompet Emmanouil Tsafantakis Jaakko Tuomilehto Anne Tybjaerg-Hansen Jonathan P Tyrer Rudolf Uher André G Uitterlinden Matti Uusitupa Sander W Laan Cornelia M Duijn Nienke Leeuwen Jessica van Setten Mauno Vanhala Anette Varbo Tibor V Varga Rohit Varma Digna R Velez Edwards Sita H Vermeulen Giovanni Veronesi Henrik Vestergaard Veronique Vitart Thomas F Vogt Uwe Völker Dragana Vuckovic Lynne E Wagenknecht Mark Walker Lars Wallentin Feijie Wang Carol A Wang Shuai Wang Yiqin Wang Erin B Ware Nicholas J Wareham Helen R Warren Dawn M Waterworth Jennifer Wessel Harvey D White Cristen J Willer James G Wilson Daniel R Witte Andrew R Wood Ying Wu Hanieh Yaghootkar Jie Yao Pang Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao Wei Zhao Wei Zhou Krina T Zondervan Jerome I Rotter John A Pospisilik Fernando Rivadeneira Ingrid B Borecki Panos Deloukas Timothy M Frayling Guillaume Lettre Kari E North Cecilia M Lindgren Joel N Hirschhorn Ruth J F Loos

Nat Genet 2018 05;50(5):766-767

Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-018-0082-3DOI Listing
May 2018

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Authors:
Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen Grabe Struan F A Grant Niels Grarup Helen L Griffiths Megan L Grove Vilmundur Gudnason Stefan Gustafsson Jeff Haessler Hakon Hakonarson Anke R Hammerschlag Torben Hansen Kathleen Mullan Harris Tamara B Harris Andrew T Hattersley Christian T Have Caroline Hayward Liang He Nancy L Heard-Costa Andrew C Heath Iris M Heid Øyvind Helgeland Jussi Hernesniemi Alex W Hewitt Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Yao Hu Paul L Huang Jennifer E Huffman M Arfan Ikram Erik Ingelsson Anne U Jackson Jan-Håkan Jansson Gail P Jarvik Gorm B Jensen Yucheng Jia Stefan Johansson Marit E Jørgensen Torben Jørgensen J Wouter Jukema Bratati Kahali René S Kahn Mika Kähönen Pia R Kamstrup Stavroula Kanoni Jaakko Kaprio Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Sekar Kathiresan Frank Kee Lambertus A Kiemeney Eric Kim Hidetoshi Kitajima Pirjo Komulainen Jaspal S Kooner Charles Kooperberg Tellervo Korhonen Peter Kovacs Helena Kuivaniemi Zoltán Kutalik Kari Kuulasmaa Johanna Kuusisto Markku Laakso Timo A Lakka David Lamparter Ethan M Lange Leslie A Lange Claudia Langenberg Eric B Larson Nanette R Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Honghuang Lin Keng-Hung Lin Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Ching-Ti Liu Dajiang J Liu Yongmei Liu Ken S Lo Artitaya Lophatananon Andrew J Lotery Anu Loukola Jian'an Luan Steven A Lubitz Leo-Pekka Lyytikäinen Satu Männistö Gaëlle Marenne Angela L Mazul Mark I McCarthy Roberta McKean-Cowdin Sarah E Medland Karina Meidtner Lili Milani Vanisha Mistry Paul Mitchell Karen L Mohlke Leena Moilanen Marie Moitry Grant W Montgomery Dennis O Mook-Kanamori Carmel Moore Trevor A Mori Andrew D Morris Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Mike A Nalls Narisu Narisu Christopher P Nelson Matt Neville Sune F Nielsen Kjell Nikus Pål R Njølstad Børge G Nordestgaard Dale R Nyholt Jeffrey R O'Connel Michelle L O'Donoghue Loes M Olde Loohuis Roel A Ophoff Katharine R Owen Chris J Packard Sandosh Padmanabhan Colin N A Palmer Nicholette D Palmer Gerard Pasterkamp Aniruddh P Patel Alison Pattie Oluf Pedersen Peggy L Peissig Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Tune H Pers Thomas N Person Annette Peters Eva R B Petersen Patricia A Peyser Ailith Pirie Ozren Polasek Tinca J Polderman Hannu Puolijoki Olli T Raitakari Asif Rasheed Rainer Rauramaa Dermot F Reilly Frida Renström Myriam Rheinberger Paul M Ridker John D Rioux Manuel A Rivas David J Roberts Neil R Robertson Antonietta Robino Olov Rolandsson Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Yadav Sapkota Naveed Sattar Robert E Schoen Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo P Segura-Lepe Svati H Shah Wayne H-H Sheu Xueling Sim Andrew J Slater Kerrin S Small Albert V Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes John M Starr Kari Stefansson Valgerdur Steinthorsdottir Kathleen E Stirrups Konstantin Strauch Heather M Stringham Michael Stumvoll Liang Sun Praveen Surendran Amy J Swift Hayato Tada Katherine E Tansey Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Gudmar Thorleifsson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Gerard Tromp Stella Trompet Emmanouil Tsafantakis Jaakko Tuomilehto Anne Tybjaerg-Hansen Jonathan P Tyrer Rudolf Uher André G Uitterlinden Matti Uusitupa Sander W Laan Cornelia M Duijn Nienke Leeuwen Jessica van Setten Mauno Vanhala Anette Varbo Tibor V Varga Rohit Varma Digna R Velez Edwards Sita H Vermeulen Giovanni Veronesi Henrik Vestergaard Veronique Vitart Thomas F Vogt Uwe Völker Dragana Vuckovic Lynne E Wagenknecht Mark Walker Lars Wallentin Feijie Wang Carol A Wang Shuai Wang Yiqin Wang Erin B Ware Nicholas J Wareham Helen R Warren Dawn M Waterworth Jennifer Wessel Harvey D White Cristen J Willer James G Wilson Daniel R Witte Andrew R Wood Ying Wu Hanieh Yaghootkar Jie Yao Pang Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao Wei Zhao Wei Zhou Krina T Zondervan Jerome I Rotter John A Pospisilik Fernando Rivadeneira Ingrid B Borecki Panos Deloukas Timothy M Frayling Guillaume Lettre Kari E North Cecilia M Lindgren Joel N Hirschhorn Ruth J F Loos

Nat Genet 2018 01 22;50(1):26-41. Epub 2017 Dec 22.

Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-017-0011-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945951PMC
January 2018

Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.

J Genet Couns 2017 Dec 30;26(6):1401-1410. Epub 2017 Jun 30.

Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.

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http://dx.doi.org/10.1007/s10897-017-0116-5DOI Listing
December 2017

Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes.

Circ Cardiovasc Genet 2017 Apr;10(2)

From the Department of Medicine (J.D.M., M.B.S., Q.S.W., C.M.S., J.C.D., D.M.R.), Vanderbilt Epidemiology Center (T.L.E.), Department of Biomedical Informatics (L.B., J.C.D., D.M.R.), Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Division of Cardiology, University of Illinois at Chicago (D.D.); Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, NorthShore University Health System, Evanston, IL (W.T.); School of Medicine (C.G.C.), School of Public Health (C.G.C.), and School of Nursing (C.G.C.), Johns Hopkins University, Baltimore, MD; Division of Medical Genetics, Department of Medicine (G.P.J.), Department of Genome Sciences (G.P.J.), Department of Biomedical Informatics (D.R.C.), Department of Medical Education (D.R.C.), University of Washington; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); Biomedical Informatics Research Center (P.L.P.), Center for Human Genetics (M.H.B., J.G.L.), Marshfield Clinic Research Foundation, WI; and Department of Epidemiology and Biostatistics, University of California, San Francisco (J.S.W.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5434456PMC
April 2017

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample.

Menopause 2017 02;24(2):150-156

1Department of Ophthalmology, Massachusetts Eye and Ear Infirmary 2Channing Division of Network Medicine, Brigham and Women's Hospital 3Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard Medical School, Boston, MA 4Department of Epidemiology and Biostatistics 5Institute of Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH 6Division of Preventive Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 7Department of Ophthalmology 8Department of Medicine, Duke University, Duke University Medical Center, Durham, NC 9Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 10Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 11Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 12Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA 13Departments of Ophthalmology and Anatomy/Cell Biology, University of Iowa, College of Medicine, Iowa City, IO 14Department of Ophthalmology, University of North Carolina, Chapel Hill, NC 15Department of Ophthalmology, WVU Eye Institute, Morgantown, WV 16Scripps Genome Center, University of California at San Diego, San Diego, CA 17Emmes Corporation, Chevy Chase, MD 18Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 19Department of Ophthalmology, Stanford University, Palo Alto, CA 20Department of Ophthalmology, Mayo Clinic, Rochester, MN 21Wills Eye Institute, Philadelphia, PA 22Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, NY 23Department of Ophthalmology, Case Western Reserve University School of Medicine, Cleveland, OH 24Department of Ophthalmology & Visual Sciences, University of Nebraska Medical Center, Omaha, NE 25Department of Genetics; Stanford University, Palo Alto, CA 26Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, MD 27Department of Ophthalmology, Hamilton Eye Center; University of California at San Diego, San Diego, CA 28Department of Cellular Biology & Anatomy, Augusta University, Augusta, GA.

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http://dx.doi.org/10.1097/GME.0000000000000741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266624PMC
February 2017

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.

Authors:
Amand F Schmidt Daniel I Swerdlow Michael V Holmes Riyaz S Patel Zammy Fairhurst-Hunter Donald M Lyall Fernando Pires Hartwig Bernardo Lessa Horta Elina Hyppönen Christine Power Max Moldovan Erik van Iperen G Kees Hovingh Ilja Demuth Kristina Norman Elisabeth Steinhagen-Thiessen Juri Demuth Lars Bertram Tian Liu Stefan Coassin Johann Willeit Stefan Kiechl Karin Willeit Dan Mason John Wright Richard Morris Goya Wanamethee Peter Whincup Yoav Ben-Shlomo Stela McLachlan Jackie F Price Mika Kivimaki Catherine Welch Adelaida Sanchez-Galvez Pedro Marques-Vidal Andrew Nicolaides Andrie G Panayiotou N Charlotte Onland-Moret Yvonne T van der Schouw Giuseppe Matullo Giovanni Fiorito Simonetta Guarrera Carlotta Sacerdote Nicholas J Wareham Claudia Langenberg Robert Scott Jian'an Luan Martin Bobak Sofia Malyutina Andrzej Pająk Ruzena Kubinova Abdonas Tamosiunas Hynek Pikhart Lise Lotte Nystrup Husemoen Niels Grarup Oluf Pedersen Torben Hansen Allan Linneberg Kenneth Starup Simonsen Jackie Cooper Steve E Humphries Murray Brilliant Terrie Kitchner Hakon Hakonarson David S Carrell Catherine A McCarty H Lester Kirchner Eric B Larson David R Crosslin Mariza de Andrade Dan M Roden Joshua C Denny Cara Carty Stephen Hancock John Attia Elizabeth Holliday Martin O'Donnell Salim Yusuf Michael Chong Guillaume Pare Pim van der Harst M Abdullah Said Ruben N Eppinga Niek Verweij Harold Snieder Tim Christen Dennis O Mook-Kanamori Stefan Gustafsson Lars Lind Erik Ingelsson Raha Pazoki Oscar Franco Albert Hofman Andre Uitterlinden Abbas Dehghan Alexander Teumer Sebastian Baumeister Marcus Dörr Markus M Lerch Uwe Völker Henry Völzke Joey Ward Jill P Pell Daniel J Smith Tom Meade Anke H Maitland-van der Zee Ekaterina V Baranova Robin Young Ian Ford Archie Campbell Sandosh Padmanabhan Michiel L Bots Diederick E Grobbee Philippe Froguel Dorothée Thuillier Beverley Balkau Amélie Bonnefond Bertrand Cariou Melissa Smart Yanchun Bao Meena Kumari Anubha Mahajan Paul M Ridker Daniel I Chasman Alex P Reiner Leslie A Lange Marylyn D Ritchie Folkert W Asselbergs Juan-Pablo Casas Brendan J Keating David Preiss Aroon D Hingorani Naveed Sattar

Lancet Diabetes Endocrinol 2017 02 29;5(2):97-105. Epub 2016 Nov 29.

Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266795PMC
February 2017

Rare and low-frequency coding variants alter human adult height.

Authors:
Eirini Marouli Mariaelisa Graff Carolina Medina-Gomez Ken Sin Lo Andrew R Wood Troels R Kjaer Rebecca S Fine Yingchang Lu Claudia Schurmann Heather M Highland Sina Rüeger Gudmar Thorleifsson Anne E Justice David Lamparter Kathleen E Stirrups Valérie Turcot Kristin L Young Thomas W Winkler Tõnu Esko Tugce Karaderi Adam E Locke Nicholas G D Masca Maggie C Y Ng Poorva Mudgal Manuel A Rivas Sailaja Vedantam Anubha Mahajan Xiuqing Guo Goncalo Abecasis Katja K Aben Linda S Adair Dewan S Alam Eva Albrecht Kristine H Allin Matthew Allison Philippe Amouyel Emil V Appel Dominique Arveiler Folkert W Asselbergs Paul L Auer Beverley Balkau Bernhard Banas Lia E Bang Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Heiner Boeing Eric Boerwinkle Carsten A Böger Lori L Bonnycastle Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Amber A Burt Adam S Butterworth David J Carey Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der Ida Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox Gabriel Cuellar-Partida John Danesh Gail Davies Paul I W de Bakker Gert J de Borst Simon de Denus Mark C H de Groot Renée de Mutsert Ian J Deary George Dedoussis Ellen W Demerath Anneke I den Hollander Joe G Dennis Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Alison M Dunning Douglas F Easton Tapani Ebeling Todd L Edwards Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki Jessica D Faul Mary F Feitosa Shuang Feng Ele Ferrannini Marco M Ferrario Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Paul W Franks Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Vilmantas Giedraitis Ayush Giri Giorgia Girotto Scott D Gordon Penny Gordon-Larsen Mathias Gorski Niels Grarup Megan L Grove Vilmundur Gudnason Stefan Gustafsson Torben Hansen Kathleen Mullan Harris Tamara B Harris Andrew T Hattersley Caroline Hayward Liang He Iris M Heid Kauko Heikkilä Øyvind Helgeland Jussi Hernesniemi Alex W Hewitt Lynne J Hocking Mette Hollensted Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Carel B Hoyng Paul L Huang Kristian Hveem M Arfan Ikram Erik Ingelsson Anne U Jackson Jan-Håkan Jansson Gail P Jarvik Gorm B Jensen Min A Jhun Yucheng Jia Xuejuan Jiang Stefan Johansson Marit E Jørgensen Torben Jørgensen Pekka Jousilahti J Wouter Jukema Bratati Kahali René S Kahn Mika Kähönen Pia R Kamstrup Stavroula Kanoni Jaakko Kaprio Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Frank Kee Renske Keeman Lambertus A Kiemeney Hidetoshi Kitajima Kirsten B Kluivers Thomas Kocher Pirjo Komulainen Jukka Kontto Jaspal S Kooner Charles Kooperberg Peter Kovacs Jennifer Kriebel Helena Kuivaniemi Sébastien Küry Johanna Kuusisto Martina La Bianca Markku Laakso Timo A Lakka Ethan M Lange Leslie A Lange Carl D Langefeld Claudia Langenberg Eric B Larson I-Te Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Honghuang Lin Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Yeheng Liu Yongmei Liu Artitaya Lophatananon Jian'an Luan Steven A Lubitz Leo-Pekka Lyytikäinen David A Mackey Pamela A F Madden Alisa K Manning Satu Männistö Gaëlle Marenne Jonathan Marten Nicholas G Martin Angela L Mazul Karina Meidtner Andres Metspalu Paul Mitchell Karen L Mohlke Dennis O Mook-Kanamori Anna Morgan Andrew D Morris Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Mike A Nalls Matthias Nauck Christopher P Nelson Matt Neville Sune F Nielsen Kjell Nikus Pål R Njølstad Børge G Nordestgaard Ioanna Ntalla Jeffrey R O'Connel Heikki Oksa Loes M Olde Loohuis Roel A Ophoff Katharine R Owen Chris J Packard Sandosh Padmanabhan Colin N A Palmer Gerard Pasterkamp Aniruddh P Patel Alison Pattie Oluf Pedersen Peggy L Peissig Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Thomas N Person Ailith Pirie Ozren Polasek Danielle Posthuma Olli T Raitakari Asif Rasheed Rainer Rauramaa Dermot F Reilly Alex P Reiner Frida Renström Paul M Ridker John D Rioux Neil Robertson Antonietta Robino Olov Rolandsson Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Kevin Sandow Yadav Sapkota Naveed Sattar Marjanka K Schmidt Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo P Segura-Lepe Svati Shah Xueling Sim Suthesh Sivapalaratnam Kerrin S Small Albert Vernon Smith Jennifer A Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes John M Starr Valgerdur Steinthorsdottir Heather M Stringham Michael Stumvoll Praveen Surendran Leen M 't Hart Katherine E Tansey Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Gerard Tromp Stella Trompet Emmanouil Tsafantakis Jaakko Tuomilehto Anne Tybjaerg-Hansen Jonathan P Tyrer Rudolf Uher André G Uitterlinden Sheila Ulivi Sander W van der Laan Andries R Van Der Leij Cornelia M van Duijn Natasja M van Schoor Jessica van Setten Anette Varbo Tibor V Varga Rohit Varma Digna R Velez Edwards Sita H Vermeulen Henrik Vestergaard Veronique Vitart Thomas F Vogt Diego Vozzi Mark Walker Feijie Wang Carol A Wang Shuai Wang Yiqin Wang Nicholas J Wareham Helen R Warren Jennifer Wessel Sara M Willems James G Wilson Daniel R Witte Michael O Woods Ying Wu Hanieh Yaghootkar Jie Yao Pang Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao Wei Zhao He Zheng Wei Zhou Jerome I Rotter Michael Boehnke Sekar Kathiresan Mark I McCarthy Cristen J Willer Kari Stefansson Ingrid B Borecki Dajiang J Liu Kari E North Nancy L Heard-Costa Tune H Pers Cecilia M Lindgren Claus Oxvig Zoltán Kutalik Fernando Rivadeneira Ruth J F Loos Timothy M Frayling Joel N Hirschhorn Panos Deloukas Guillaume Lettre

Nature 2017 02 1;542(7640):186-190. Epub 2017 Feb 1.

Montreal Heart Institute, Montreal, Quebec H1T 1C8, Canada.

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http://dx.doi.org/10.1038/nature21039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5302847PMC
February 2017

Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data.

Circ Cardiovasc Genet 2016 Dec 25;9(6):521-530. Epub 2016 Oct 25.

From the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177499PMC
December 2016

KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN.

Pac Symp Biocomput 2016 ;21:249-60

Department of Biochemistry, Microbiology and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824557PMC
October 2016

BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN.

Pac Symp Biocomput 2016 ;21:357-68

Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722964PMC
October 2016

A GWAS Study on Liver Function Test Using eMERGE Network Participants.

PLoS One 2015 28;10(9):e0138677. Epub 2015 Sep 28.

Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, United States of America; University of Cincinnati, College of Medicine, Cincinnati, OH, United States of America; U.S. Department of Veterans Affairs Medical Center, Cincinnati, OH, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138677PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586138PMC
June 2016

Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network.

BioData Min 2016 10;9:18. Epub 2016 May 10.

Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, USA ; Biomedical & Translational Informatics, Geisinger Health System, Danville, Pennsylvania USA.

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http://dx.doi.org/10.1186/s13040-016-0094-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862166PMC
May 2016

Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration.

Am J Med 2016 Mar 30;129(3):292-8. Epub 2015 Oct 30.

Department of Ophthalmology and Vision Science, University of Arizona, Tucson; Department of Cellular and Molecular Medicine, University of Arizona, Tucson. Electronic address:

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http://dx.doi.org/10.1016/j.amjmed.2015.10.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841631PMC
March 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Nat Genet 2016 Feb 11;48(2):189-94. Epub 2016 Jan 11.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

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http://search.proquest.com/openview/9583d4c1af74c01602d422b2
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http://www.nature.com/doifinder/10.1038/ng.3482
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http://dx.doi.org/10.1038/ng.3482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731307PMC
February 2016

Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

J AAPOS 2015 Dec;19(6):562-4

Department of Pediatrics, University of Minnesota, Minneapolis; Department of Ophthalmology & Visual Neurosciences, University of Minnesota, Minneapolis. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2015.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4948991PMC
December 2015

CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids.

Immun Inflamm Dis 2015 Dec 14;3(4):350-9. Epub 2015 Jul 14.

Channing Division of Network Medicine, Department of MedicineBrigham and Women's Hospital and Harvard Medical SchoolBostonMassachusetts02115; Center for Child Health Care Studies, Department of Population MedicineHarvard Pilgrim Health Care Institute and Harvard Medical SchoolBostonMassachusetts02115.

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http://dx.doi.org/10.1002/iid3.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693729PMC
December 2015

Progress in oral personalized medicine: contribution of 'omics'.

J Oral Microbiol 2015 4;7:28223. Epub 2015 Sep 4.

Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561229PMC
http://dx.doi.org/10.3402/jom.v7.28223DOI Listing
September 2015

Differential Lipid Response to Statins Is Associated With Variants in the BUD13-APOA5 Gene Region.

J Cardiovasc Pharmacol 2015 Aug;66(2):183-8

*Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI; †Health Services Research and Development, Michael E. DeBakey Veterans Affairs Medical Center and Section of Cardiovascular Research, Department of Medicine, Baylor College of Medicine, Houston, TX; and ‡Division of Genetics and Endocrinology, Cook Children's Medical Center, Fort Worth, TX.

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http://dx.doi.org/10.1097/FJC.0000000000000261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4993018PMC
August 2015

Personalized medicine going precise: from genomics to microbiomics.

Trends Mol Med 2015 Aug 27;21(8):461-2. Epub 2015 Jun 27.

Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA.

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http://dx.doi.org/10.1016/j.molmed.2015.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530069PMC
August 2015

Albinism in Africa: a medical and social emergency.

Int Health 2015 Jul 10;7(4):223-5. Epub 2015 Jun 10.

Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA

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http://dx.doi.org/10.1093/inthealth/ihv039DOI Listing
July 2015

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.

Hum Genet 2015 Jun 19;134(6):659-69. Epub 2015 Apr 19.

Center for Human Genetics, Marshfield Clinic Research Foundation, 1000 N Oak Ave-MLR, Marshfield, WI, 54449, USA,

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http://dx.doi.org/10.1007/s00439-015-1551-8DOI Listing
June 2015

Phenome-wide association studies (PheWASs) for functional variants.

Eur J Hum Genet 2015 Apr 30;23(4):523-9. Epub 2014 Jul 30.

1] Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA [2] Computation and Informatics in Biology and Medicine, University of Wisconsin Madison, Madison, WI, USA.

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http://dx.doi.org/10.1038/ejhg.2014.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666492PMC
April 2015

SeqHBase: a big data toolset for family based sequencing data analysis.

J Med Genet 2015 Apr 13;52(4):282-8. Epub 2015 Jan 13.

Utah Foundation for Biomedical Research, Provo, Utah, USA Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California, USA Department of Psychiatry, University of Southern California, Los Angeles, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382803PMC
April 2015

Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity.

Circ Res 2014 Dec 17;115(12):1017-25. Epub 2014 Oct 17.

From the Center for Pharmacogenomics, College of Medicine, The Ohio State University, Columbus (E.S.B., J.K.P., W.S.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (D.W., J.F.C.); Center for Systems Genomics, Pennsylvania State University, University Park (A.V., S.A.P., M.D.R.); Department of Genetics, University of North Carolina School of Medicine, Chapel Hill (L.A.L.); Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson (J.G.W.); The Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA (H.K., G.T., D.J.C.); Institute for Personalized Medicine, The Pennsylvania State University College of Medicine, Hershey (G.S.G.); Center for Human Genetics, Marshfield Clinic Research Foundation, WI (M.H.B., S.J.H.); and Department of Psychology, The University of Chicago, IL (G.J.N.).

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http://dx.doi.org/10.1161/CIRCRESAHA.116.304398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258174PMC
December 2014

Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial.

Clin Exp Ophthalmol 2014 Nov 5;42(8):713-21. Epub 2014 May 5.

Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1111/ceo.12325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169362PMC
November 2014

Author response: relationship between foveal cone specialization and pit morphology in albinism.

Invest Ophthalmol Vis Sci 2014 Sep 18;55(9):5923. Epub 2014 Sep 18.

Department of Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States;

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http://dx.doi.org/10.1167/iovs.14-15470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4687793PMC
September 2014

Environment-wide association study (EWAS) for type 2 diabetes in the Marshfield Personalized Medicine Research Project Biobank.

Pac Symp Biocomput 2014 :200-11

Center for Systems Genomics, Department of Biochemistry and Molecular Biology, The Pennsylvania State University, 512 Wartik Lab, University Park, PA 16802, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4037237PMC
August 2014

Cone structure in subjects with known genetic relative risk for AMD.

Optom Vis Sci 2014 Aug;91(8):939-49

*MD †BS ‡PhD §MS Department of Ophthalmology (MEL, JY, KES, JC, TC), Division of Biostatistics, Institute for Health and Society (QX, AS, CDP), Medical College of Wisconsin, Milwaukee, Wisconsin; Department of Biomedical Engineering, Marquette University, Milwaukee, Wisconsin (RFC); Department of Computer Sciences, University of Wisconsin-Madison, Madison, Wisconsin (EB); and Center for Human Genetics (TK, MB), Core Laboratory (LCI), Marshfield Clinic Research Foundation, Marshfield, Wisconsin.

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http://dx.doi.org/10.1097/OPX.0000000000000323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111779PMC
August 2014

Relationship between foveal cone specialization and pit morphology in albinism.

Invest Ophthalmol Vis Sci 2014 May 20;55(7):4186-98. Epub 2014 May 20.

Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States Department of Biomedical Engineering, Marquette University, Milwaukee, Wisconsin, United States Department of Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.

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http://dx.doi.org/10.1167/iovs.13-13217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098060PMC
May 2014

Topical timolol for treatment of epistaxis in hereditary haemorrhagic telangiectasia associated with bradycardia: a look at CYP2D6 metabolising variants.

BMJ Case Rep 2014 Feb 11;2014. Epub 2014 Feb 11.

Department of Internal Medicine and Clinical Research, Marshfield Clinic, Marshfield, Wisconsin, USA.

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http://dx.doi.org/10.1136/bcr-2013-203056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926386PMC
February 2014

Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies.

BMC Med Genomics 2014 Jan 14;7. Epub 2014 Jan 14.

Division of Research, Essentia Institute of Rural Health, 502 East Second Street, Duluth, MN 55805, USA.

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http://dx.doi.org/10.1186/1755-8794-7-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3896802PMC
January 2014

FMR1 CGG expansions: prevalence and sex ratios.

Am J Med Genet B Neuropsychiatr Genet 2013 Jul 5;162B(5):466-73. Epub 2013 Jun 5.

Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.

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http://dx.doi.org/10.1002/ajmg.b.32176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885228PMC
July 2013

Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?

Med Hypotheses 2012 Dec 12;79(6):875-8. Epub 2012 Oct 12.

Department of Pediatrics, University of Arizona, Tucson, AZ 85724, USA.

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http://dx.doi.org/10.1016/j.mehy.2012.09.013DOI Listing
December 2012

Certificates of confidentiality and the Marshfield Clinic's Personalized Medicine Research Project.

Virtual Mentor 2012 Aug 1;14(8):653-6. Epub 2012 Aug 1.

Center for Human Genetics at Marshfield Clinic Research Foundation in Marshfield, Wisconsin, USA.

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http://dx.doi.org/10.1001/virtualmentor.2012.14.8.pfor2-1208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698606PMC
August 2012

Usefulness of alkaline hydrogen peroxide oxidation to analyze eumelanin and pheomelanin in various tissue samples: application to chemical analysis of human hair melanins.

Pigment Cell Melanoma Res 2011 Aug 17;24(4):605-13. Epub 2011 May 17.

Department of Chemistry, Fujita Health University School of Health Sciences, Toyoake, Aichi, Japan.

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http://dx.doi.org/10.1111/j.1755-148X.2011.00864.xDOI Listing
August 2011

Critical parameters for genome editing using zinc finger nucleases.

Mini Rev Med Chem 2008 Jun;8(7):669-76

University of Arizona, Department of Pharmacology and Toxicology, Tucson, AZ 85721, USA.

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http://dx.doi.org/10.2174/138955708784567458DOI Listing
June 2008

Sox6 directly silences epsilon globin expression in definitive erythropoiesis.

PLoS Genet 2006 Feb 3;2(2):e14. Epub 2006 Feb 3.

Department of Pediatrics, University of Arizona, College of Medicine, Tucson, Arizona, USA.

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http://dx.doi.org/10.1371/journal.pgen.0020014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1359074PMC
February 2006

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.

Eur J Pediatr 2005 Mar 23;164(3):177-9. Epub 2004 Nov 23.

Division of Paediatric Immunology-Allergy, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-004-1582-yDOI Listing
March 2005

Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus.

Audiol Neurootol 2004 Sep-Oct;9(5):303-14. Epub 2004 Sep 3.

Department of Otolaryngology/Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, Mich. 48109-0648, USA.

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http://dx.doi.org/10.1159/000080701DOI Listing
October 2004

Sox6 regulation of cardiac myocyte development.

Nucleic Acids Res 2003 Oct;31(20):5941-8

Department of Pediatrics, The University of Arizona College of Medicine, Steele Memorial Children's Research Center 1501 N. Campbell Avenue, Tucson, AZ 85724, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC219484PMC
http://dx.doi.org/10.1093/nar/gkg807DOI Listing
October 2003

Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice.

Dev Biol 2003 Feb;254(1):93-101

University of Arizona, College of Medicine, Department of Pediatrics, 1501 North Campbell Avenue, Tucson, AZ 85724, USA.

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http://dx.doi.org/10.1016/s0012-1606(02)00030-1DOI Listing
February 2003