Jun Z Li

Jun Z Li

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COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.

Cerebellum 2019 Jun;18(3):665-669

Molecular & Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.

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http://link.springer.com/10.1007/s12311-019-01011-x
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http://dx.doi.org/10.1007/s12311-019-01011-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536000PMC
June 2019

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Authors:
Eli A Stahl Gerome Breen Andreas J Forstner Andrew McQuillin Stephan Ripke Vassily Trubetskoy Manuel Mattheisen Yunpeng Wang Jonathan R I Coleman Héléna A Gaspar Christiaan A de Leeuw Stacy Steinberg Jennifer M Whitehead Pavlides Maciej Trzaskowski Enda M Byrne Tune H Pers Peter A Holmans Alexander L Richards Liam Abbott Esben Agerbo Huda Akil Diego Albani Ney Alliey-Rodriguez Thomas D Als Adebayo Anjorin Verneri Antilla Swapnil Awasthi Judith A Badner Marie Bækvad-Hansen Jack D Barchas Nicholas Bass Michael Bauer Richard Belliveau Sarah E Bergen Carsten Bøcker Pedersen Erlend Bøen Marco P Boks James Boocock Monika Budde William Bunney Margit Burmeister Jonas Bybjerg-Grauholm William Byerley Miquel Casas Felecia Cerrato Pablo Cervantes Kimberly Chambert Alexander W Charney Danfeng Chen Claire Churchhouse Toni-Kim Clarke William Coryell David W Craig Cristiana Cruceanu David Curtis Piotr M Czerski Anders M Dale Simone de Jong Franziska Degenhardt Jurgen Del-Favero J Raymond DePaulo Srdjan Djurovic Amanda L Dobbyn Ashley Dumont Torbjørn Elvsåshagen Valentina Escott-Price Chun Chieh Fan Sascha B Fischer Matthew Flickinger Tatiana M Foroud Liz Forty Josef Frank Christine Fraser Nelson B Freimer Louise Frisén Katrin Gade Diane Gage Julie Garnham Claudia Giambartolomei Marianne Giørtz Pedersen Jaqueline Goldstein Scott D Gordon Katherine Gordon-Smith Elaine K Green Melissa J Green Tiffany A Greenwood Jakob Grove Weihua Guan José Guzman-Parra Marian L Hamshere Martin Hautzinger Urs Heilbronner Stefan Herms Maria Hipolito Per Hoffmann Dominic Holland Laura Huckins Stéphane Jamain Jessica S Johnson Anders Juréus Radhika Kandaswamy Robert Karlsson James L Kennedy Sarah Kittel-Schneider James A Knowles Manolis Kogevinas Anna C Koller Ralph Kupka Catharina Lavebratt Jacob Lawrence William B Lawson Markus Leber Phil H Lee Shawn E Levy Jun Z Li Chunyu Liu Susanne Lucae Anna Maaser Donald J MacIntyre Pamela B Mahon Wolfgang Maier Lina Martinsson Steve McCarroll Peter McGuffin Melvin G McInnis James D McKay Helena Medeiros Sarah E Medland Fan Meng Lili Milani Grant W Montgomery Derek W Morris Thomas W Mühleisen Niamh Mullins Hoang Nguyen Caroline M Nievergelt Annelie Nordin Adolfsson Evaristus A Nwulia Claire O'Donovan Loes M Olde Loohuis Anil P S Ori Lilijana Oruc Urban Ösby Roy H Perlis Amy Perry Andrea Pfennig James B Potash Shaun M Purcell Eline J Regeer Andreas Reif Céline S Reinbold John P Rice Fabio Rivas Margarita Rivera Panos Roussos Douglas M Ruderfer Euijung Ryu Cristina Sánchez-Mora Alan F Schatzberg William A Scheftner Nicholas J Schork Cynthia Shannon Weickert Tatyana Shehktman Paul D Shilling Engilbert Sigurdsson Claire Slaney Olav B Smeland Janet L Sobell Christine Søholm Hansen Anne T Spijker David St Clair Michael Steffens John S Strauss Fabian Streit Jana Strohmaier Szabolcs Szelinger Robert C Thompson Thorgeir E Thorgeirsson Jens Treutlein Helmut Vedder Weiqing Wang Stanley J Watson Thomas W Weickert Stephanie H Witt Simon Xi Wei Xu Allan H Young Peter Zandi Peng Zhang Sebastian Zöllner Rolf Adolfsson Ingrid Agartz Martin Alda Lena Backlund Bernhard T Baune Frank Bellivier Wade H Berrettini Joanna M Biernacka Douglas H R Blackwood Michael Boehnke Anders D Børglum Aiden Corvin Nicholas Craddock Mark J Daly Udo Dannlowski Tõnu Esko Bruno Etain Mark Frye Janice M Fullerton Elliot S Gershon Michael Gill Fernando Goes Maria Grigoroiu-Serbanescu Joanna Hauser David M Hougaard Christina M Hultman Ian Jones Lisa A Jones René S Kahn George Kirov Mikael Landén Marion Leboyer Cathryn M Lewis Qingqin S Li Jolanta Lissowska Nicholas G Martin Fermin Mayoral Susan L McElroy Andrew M McIntosh Francis J McMahon Ingrid Melle Andres Metspalu Philip B Mitchell Gunnar Morken Ole Mors Preben Bo Mortensen Bertram Müller-Myhsok Richard M Myers Benjamin M Neale Vishwajit Nimgaonkar Merete Nordentoft Markus M Nöthen Michael C O'Donovan Ketil J Oedegaard Michael J Owen Sara A Paciga Carlos Pato Michele T Pato Danielle Posthuma Josep Antoni Ramos-Quiroga Marta Ribasés Marcella Rietschel Guy A Rouleau Martin Schalling Peter R Schofield Thomas G Schulze Alessandro Serretti Jordan W Smoller Hreinn Stefansson Kari Stefansson Eystein Stordal Patrick F Sullivan Gustavo Turecki Arne E Vaaler Eduard Vieta John B Vincent Thomas Werge John I Nurnberger Naomi R Wray Arianna Di Florio Howard J Edenberg Sven Cichon Roel A Ophoff Laura J Scott Ole A Andreassen John Kelsoe Pamela Sklar

Nat Genet 2019 05 1;51(5):793-803. Epub 2019 May 1.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://www.nature.com/articles/s41588-019-0397-8
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http://dx.doi.org/10.1038/s41588-019-0397-8DOI Listing
May 2019

Extended regions of suspected mis-assembly in the rat reference genome.

Sci Data 2019 04 23;6(1):39. Epub 2019 Apr 23.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1038/s41597-019-0041-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478900PMC
April 2019

Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

Circulation 2019 Jan;139(5):620-635

Department of Epidemiology, (A.P.R., B.M.P., N.L.S.), University of Washington, Seattle.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.034532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438386PMC
January 2019

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

Authors:
Symen Ligthart Ahmad Vaez Urmo Võsa Maria G Stathopoulou Paul S de Vries Bram P Prins Peter J Van der Most Toshiko Tanaka Elnaz Naderi Lynda M Rose Ying Wu Robert Karlsson Maja Barbalic Honghuang Lin René Pool Gu Zhu Aurélien Macé Carlo Sidore Stella Trompet Massimo Mangino Maria Sabater-Lleal John P Kemp Ali Abbasi Tim Kacprowski Niek Verweij Albert V Smith Tao Huang Carola Marzi Mary F Feitosa Kurt K Lohman Marcus E Kleber Yuri Milaneschi Christian Mueller Mahmudul Huq Efthymia Vlachopoulou Leo-Pekka Lyytikäinen Christopher Oldmeadow Joris Deelen Markus Perola Jing Hua Zhao Bjarke Feenstra Marzyeh Amini Jari Lahti Katharina E Schraut Myriam Fornage Bhoom Suktitipat Wei-Min Chen Xiaohui Li Teresa Nutile Giovanni Malerba Jian'an Luan Tom Bak Nicholas Schork Fabiola Del Greco M Elisabeth Thiering Anubha Mahajan Riccardo E Marioni Evelin Mihailov Joel Eriksson Ayse Bilge Ozel Weihua Zhang Maria Nethander Yu-Ching Cheng Stella Aslibekyan Wei Ang Ilaria Gandin Loïc Yengo Laura Portas Charles Kooperberg Edith Hofer Kumar B Rajan Claudia Schurmann Wouter den Hollander Tarunveer S Ahluwalia Jing Zhao Harmen H M Draisma Ian Ford Nicholas Timpson Alexander Teumer Hongyan Huang Simone Wahl YongMei Liu Jie Huang Hae-Won Uh Frank Geller Peter K Joshi Lisa R Yanek Elisabetta Trabetti Benjamin Lehne Diego Vozzi Marie Verbanck Ginevra Biino Yasaman Saba Ingrid Meulenbelt Jeff R O'Connell Markku Laakso Franco Giulianini Patrik K E Magnusson Christie M Ballantyne Jouke Jan Hottenga Grant W Montgomery Fernando Rivadineira Rico Rueedi Maristella Steri Karl-Heinz Herzig David J Stott Cristina Menni Mattias Frånberg Beate St Pourcain Stephan B Felix Tune H Pers Stephan J L Bakker Peter Kraft Annette Peters Dhananjay Vaidya Graciela Delgado Johannes H Smit Vera Großmann Juha Sinisalo Ilkka Seppälä Stephen R Williams Elizabeth G Holliday Matthijs Moed Claudia Langenberg Katri Räikkönen Jingzhong Ding Harry Campbell Michele M Sale Yii-Der I Chen Alan L James Daniela Ruggiero Nicole Soranzo Catharina A Hartman Erin N Smith Gerald S Berenson Christian Fuchsberger Dena Hernandez Carla M T Tiesler Vilmantas Giedraitis David Liewald Krista Fischer Dan Mellström Anders Larsson Yunmei Wang William R Scott Matthias Lorentzon John Beilby Kathleen A Ryan Craig E Pennell Dragana Vuckovic Beverly Balkau Maria Pina Concas Reinhold Schmidt Carlos F Mendes de Leon Erwin P Bottinger Margreet Kloppenburg Lavinia Paternoster Michael Boehnke A W Musk Gonneke Willemsen David M Evans Pamela A F Madden Mika Kähönen Zoltán Kutalik Magdalena Zoledziewska Ville Karhunen Stephen B Kritchevsky Naveed Sattar Genevieve Lachance Robert Clarke Tamara B Harris Olli T Raitakari John R Attia Diana van Heemst Eero Kajantie Rossella Sorice Giovanni Gambaro Robert A Scott Andrew A Hicks Luigi Ferrucci Marie Standl Cecilia M Lindgren John M Starr Magnus Karlsson Lars Lind Jun Z Li John C Chambers Trevor A Mori Eco J C N de Geus Andrew C Heath Nicholas G Martin Juha Auvinen Brendan M Buckley Anton J M de Craen Melanie Waldenberger Konstantin Strauch Thomas Meitinger Rodney J Scott Mark McEvoy Marian Beekman Cristina Bombieri Paul M Ridker Karen L Mohlke Nancy L Pedersen Alanna C Morrison Dorret I Boomsma John B Whitfield David P Strachan Albert Hofman Peter Vollenweider Francesco Cucca Marjo-Riitta Jarvelin J Wouter Jukema Tim D Spector Anders Hamsten Tanja Zeller André G Uitterlinden Matthias Nauck Vilmundur Gudnason Lu Qi Harald Grallert Ingrid B Borecki Jerome I Rotter Winfried März Philipp S Wild Marja-Liisa Lokki Michael Boyle Veikko Salomaa Mads Melbye Johan G Eriksson James F Wilson Brenda W J H Penninx Diane M Becker Bradford B Worrall Greg Gibson Ronald M Krauss Marina Ciullo Gianluigi Zaza Nicholas J Wareham Albertine J Oldehinkel Lyle J Palmer Sarah S Murray Peter P Pramstaller Stefania Bandinelli Joachim Heinrich Erik Ingelsson Ian J Deary Reedik Mägi Liesbeth Vandenput Pim van der Harst Karl C Desch Jaspal S Kooner Claes Ohlsson Caroline Hayward Terho Lehtimäki Alan R Shuldiner Donna K Arnett Lawrence J Beilin Antonietta Robino Philippe Froguel Mario Pirastu Tine Jess Wolfgang Koenig Ruth J F Loos Denis A Evans Helena Schmidt George Davey Smith P Eline Slagboom Gudny Eiriksdottir Andrew P Morris Bruce M Psaty Russell P Tracy Ilja M Nolte Eric Boerwinkle Sophie Visvikis-Siest Alex P Reiner Myron Gross Joshua C Bis Lude Franke Oscar H Franco Emelia J Benjamin Daniel I Chasman Josée Dupuis Harold Snieder Abbas Dehghan Behrooz Z Alizadeh

Am J Hum Genet 2018 11;103(5):691-706

Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, the Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183032
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http://dx.doi.org/10.1016/j.ajhg.2018.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218410PMC
November 2018

Helmsman: fast and efficient mutation signature analysis for massive sequencing datasets.

BMC Genomics 2018 Nov 28;19(1):845. Epub 2018 Nov 28.

Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1186/s12864-018-5264-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263557PMC
November 2018

Statistical Detection of Relatives Typed with Disjoint Forensic and Biomedical Loci.

Cell 2018 Oct 11;175(3):848-858.e6. Epub 2018 Oct 11.

Department of Biology, Stanford University, Stanford, CA 94305, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674183118
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http://dx.doi.org/10.1016/j.cell.2018.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240431PMC
October 2018

A Comprehensive Roadmap of Murine Spermatogenesis Defined by Single-Cell RNA-Seq.

Dev Cell 2018 09 23;46(5):651-667.e10. Epub 2018 Aug 23.

Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, MI, USA; Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, MI, USA; Department of Urology, University of Michigan, Ann Arbor, MI, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2018.07.025DOI Listing
September 2018

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

Arch Endocrinol Metab 2017 Dec;61(6):633-636

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), São Paulo, SP Brasil.

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http://dx.doi.org/10.1590/2359-3997000000311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806044PMC
December 2017

Mutation landscape and intra-tumor heterogeneity of two MANECs of the esophagus revealed by multi-region sequencing.

Oncotarget 2017 Sep 27;8(41):69610-69621. Epub 2017 Jun 27.

Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Laboratory of Genetics, Peking University Cancer Hospital and Institute, Beijing 100142, PR China.

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http://dx.doi.org/10.18632/oncotarget.18678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642503PMC
September 2017

Linkage disequilibrium matches forensic genetic records to disjoint genomic marker sets.

Proc Natl Acad Sci U S A 2017 05 15;114(22):5671-5676. Epub 2017 May 15.

Department of Biology, Stanford University, Stanford, CA 94305;

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http://dx.doi.org/10.1073/pnas.1619944114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465933PMC
May 2017

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

Authors:
Frank J A van Rooij Rehan Qayyum Albert V Smith Yi Zhou Stella Trompet Toshiko Tanaka Margaux F Keller Li-Ching Chang Helena Schmidt Min-Lee Yang Ming-Huei Chen James Hayes Andrew D Johnson Lisa R Yanek Christian Mueller Leslie Lange James S Floyd Mohsen Ghanbari Alan B Zonderman J Wouter Jukema Albert Hofman Cornelia M van Duijn Karl C Desch Yasaman Saba Ayse B Ozel Beverly M Snively Jer-Yuarn Wu Reinhold Schmidt Myriam Fornage Robert J Klein Caroline S Fox Koichi Matsuda Naoyuki Kamatani Philipp S Wild David J Stott Ian Ford P Eline Slagboom Jaden Yang Audrey Y Chu Amy J Lambert André G Uitterlinden Oscar H Franco Edith Hofer David Ginsburg Bella Hu Brendan Keating Ursula M Schick Jennifer A Brody Jun Z Li Zhao Chen Tanja Zeller Jack M Guralnik Daniel I Chasman Luanne L Peters Michiaki Kubo Diane M Becker Jin Li Gudny Eiriksdottir Jerome I Rotter Daniel Levy Vera Grossmann Kushang V Patel Chien-Hsiun Chen Paul M Ridker Hua Tang Lenore J Launer Kenneth M Rice Ruifang Li-Gao Luigi Ferrucci Michelle K Evans Avik Choudhuri Eirini Trompouki Brian J Abraham Song Yang Atsushi Takahashi Yoichiro Kamatani Charles Kooperberg Tamara B Harris Sun Ha Jee Josef Coresh Fuu-Jen Tsai Dan L Longo Yuan-Tsong Chen Janine F Felix Qiong Yang Bruce M Psaty Eric Boerwinkle Lewis C Becker Dennis O Mook-Kanamori James G Wilson Vilmundur Gudnason Christopher J O'Donnell Abbas Dehghan L Adrienne Cupples Michael A Nalls Andrew P Morris Yukinori Okada Alexander P Reiner Leonard I Zon Santhi K Ganesh

Am J Hum Genet 2017 Jan 22;100(1):51-63. Epub 2016 Dec 22.

Division of Cardiovascular Medicine, Department of Internal Medicine, Department of Human Genetics, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30520-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630520
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http://dx.doi.org/10.1016/j.ajhg.2016.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223059PMC
January 2017

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Endocr Rev 2016 12 9;37(6):636-675. Epub 2016 Nov 9.

Department of Human Genetics (Q.F., A.S.G., M.L.B., A.H.M., P.G., L.Y.M.C., A.Z.D., M.I.P.M., A.B.O., J.O.K., R.E.M., J.Z.L., S.A.C.), Graduate Program in Bioinformatics (A.S.G.), Endocrine Division, Department of Internal Medicine (A.A.), and Department of Computational Medicine and Bioinformatics (J.O.K., R.E.M., J.Z.L.), University of Michigan, Ann Arbor, Michigan 48109.

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http://dx.doi.org/10.1210/er.2016-1101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155665PMC
December 2016

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.

Clin Endocrinol (Oxf) 2016 09 28;85(3):408-14. Epub 2016 Apr 28.

Division of Endocrinology, Unit of Endocrinology and Development, Laboratory of Hormones and Molecular Genetics, Clinical Hospital of the Faculty of Medicine of the University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1111/cen.13067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988903PMC
September 2016

A role of autophagy in spinocerebellar ataxia-Rare exception or general principle?

Autophagy 2016 07 22;12(7):1208-9. Epub 2016 Apr 22.

h Life Sciences Institute, University of Michigan , Ann Arbor , MI , USA.

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http://dx.doi.org/10.1080/15548627.2016.1170266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990986PMC
July 2016

Individual Identifiability Predicts Population Identifiability in Forensic Microsatellite Markers.

Curr Biol 2016 Apr 17;26(7):935-42. Epub 2016 Mar 17.

Department of Biology, Stanford University, Stanford, CA 94305, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cub.2016.01.065DOI Listing
April 2016

PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

Am J Hum Genet 2016 Mar;98(3):588-589

Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800039PMC
March 2016

Antibiotic-induced shifts in the mouse gut microbiome and metabolome increase susceptibility to Clostridium difficile infection.

Nat Commun 2014 ;5:3114

1] Division of Infectious Diseases, Department of Internal Medicine, The University of Michigan, Ann Arbor, Michigan 48109, USA [2] Department of Microbiology and Immunology, The University of Michigan, Ann Arbor, Michigan 48109, USA.

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http://www.nature.com/articles/ncomms4114
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http://dx.doi.org/10.1038/ncomms4114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3950275PMC
October 2015

Evaluation of exome sequencing variation in undiagnosed ataxias.

Brain 2015 Oct 4;138(Pt 10):e383. Epub 2015 Apr 4.

1 Molecular and Behavioural Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA 2 Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA 3 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA 4 Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awv087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671475PMC
October 2015

Cancer classification in the genomic era: five contemporary problems.

Hum Genomics 2015 Oct 19;9:27. Epub 2015 Oct 19.

Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1186/s40246-015-0049-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612488PMC
October 2015

Characterization of large structural genetic mosaicism in human autosomes.

Authors:
Mitchell J Machiela Weiyin Zhou Joshua N Sampson Michael C Dean Kevin B Jacobs Amanda Black Louise A Brinton I-Shou Chang Chu Chen Constance Chen Kexin Chen Linda S Cook Marta Crous Bou Immaculata De Vivo Jennifer Doherty Christine M Friedenreich Mia M Gaudet Christopher A Haiman Susan E Hankinson Patricia Hartge Brian E Henderson Yun-Chul Hong H Dean Hosgood Chao A Hsiung Wei Hu David J Hunter Lea Jessop Hee Nam Kim Yeul Hong Kim Young Tae Kim Robert Klein Peter Kraft Qing Lan Dongxin Lin Jianjun Liu Loic Le Marchand Xiaolin Liang Jolanta Lissowska Lingeng Lu Anthony M Magliocco Keitaro Matsuo Sara H Olson Irene Orlow Jae Yong Park Loreall Pooler Jennifer Prescott Radhai Rastogi Harvey A Risch Fredrick Schumacher Adeline Seow Veronica Wendy Setiawan Hongbing Shen Xin Sheng Min-Ho Shin Xiao-Ou Shu David VanDen Berg Jiu-Cun Wang Nicolas Wentzensen Maria Pik Wong Chen Wu Tangchun Wu Yi-Long Wu Lucy Xia Hannah P Yang Pan-Chyr Yang Wei Zheng Baosen Zhou Christian C Abnet Demetrius Albanes Melinda C Aldrich Christopher Amos Laufey T Amundadottir Sonja I Berndt William J Blot Cathryn H Bock Paige M Bracci Laurie Burdett Julie E Buring Mary A Butler Tania Carreón Nilanjan Chatterjee Charles C Chung Michael B Cook Michael Cullen Faith G Davis Ti Ding Eric J Duell Caroline G Epstein Jin-Hu Fan Jonine D Figueroa Joseph F Fraumeni Neal D Freedman Charles S Fuchs Yu-Tang Gao Susan M Gapstur Ana Patiño-Garcia Montserrat Garcia-Closas J Michael Gaziano Graham G Giles Elizabeth M Gillanders Edward L Giovannucci Lynn Goldin Alisa M Goldstein Mark H Greene Goran Hallmans Curtis C Harris Roger Henriksson Elizabeth A Holly Robert N Hoover Nan Hu Amy Hutchinson Mazda Jenab Christoffer Johansen Kay-Tee Khaw Woon-Puay Koh Laurence N Kolonel Charles Kooperberg Vittorio Krogh Robert C Kurtz Andrea LaCroix Annelie Landgren Maria Teresa Landi Donghui Li Linda M Liao Nuria Malats Katherine A McGlynn Lorna H McNeill Robert R McWilliams Beatrice S Melin Lisa Mirabello Beata Peplonska Ulrike Peters Gloria M Petersen Ludmila Prokunina-Olsson Mark Purdue You-Lin Qiao Kari G Rabe Preetha Rajaraman Francisco X Real Elio Riboli Benjamín Rodríguez-Santiago Nathaniel Rothman Avima M Ruder Sharon A Savage Ann G Schwartz Kendra L Schwartz Howard D Sesso Gianluca Severi Debra T Silverman Margaret R Spitz Victoria L Stevens Rachael Stolzenberg-Solomon Daniel Stram Ze-Zhong Tang Philip R Taylor Lauren R Teras Geoffrey S Tobias Kala Viswanathan Sholom Wacholder Zhaoming Wang Stephanie J Weinstein William Wheeler Emily White John K Wiencke Brian M Wolpin Xifeng Wu Jay S Wunder Kai Yu Krista A Zanetti Anne Zeleniuch-Jacquotte Regina G Ziegler Mariza de Andrade Kathleen C Barnes Terri H Beaty Laura J Bierut Karl C Desch Kimberly F Doheny Bjarke Feenstra David Ginsburg John A Heit Jae H Kang Cecilia A Laurie Jun Z Li William L Lowe Mary L Marazita Mads Melbye Daniel B Mirel Jeffrey C Murray Sarah C Nelson Louis R Pasquale Kenneth Rice Janey L Wiggs Anastasia Wise Margaret Tucker Luis A Pérez-Jurado Cathy C Laurie Neil E Caporaso Meredith Yeager Stephen J Chanock

Am J Hum Genet 2015 Mar;96(3):487-97

Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375431PMC
March 2015

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.

Neurology 2014 Dec 31;83(23):2175-82. Epub 2014 Oct 31.

From the Program in Cellular and Molecular Biology (R.B., M.B.), Molecular & Behavioral Neuroscience Institute (R.B., K.M., M.B.), Departments of Human Genetics (J.X., W.P., J.Z.L., M.B.), Neurology (J.J.D.), Pediatrics (J.J.D.), and Psychiatry (M.B.), University of Michigan Medical Center, Ann Arbor; and Department of Neurology (Z.Y.), Division of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey. J.J.D. is currently affiliated with the Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Departments of Pediatrics and Molecular Genetics, University of Toronto, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000001053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276403PMC
December 2014

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Nat Genet 2014 Oct 31;46(10):1126-1130. Epub 2014 Aug 31.

Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

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http://dx.doi.org/10.1038/ng.3087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177225PMC
October 2014

Critical limitations of consensus clustering in class discovery.

Sci Rep 2014 Aug 27;4:6207. Epub 2014 Aug 27.

Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1038/srep06207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145288PMC
August 2014

G protein-linked signaling pathways in bipolar and major depressive disorders.

Front Genet 2013 23;4:297. Epub 2013 Dec 23.

Department of Psychiatry and Human Behavior, University of California Irvine, CA, USA ; Functional Genomics Laboratory, Department of Psychiatry and Human Behavior, University of California Irvine CA, USA.

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http://dx.doi.org/10.3389/fgene.2013.00297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870297PMC
January 2014

Runs of homozygosity and parental relatedness.

Genet Med 2013 Sep;15(9):753-4

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http://dx.doi.org/10.1038/gim.2013.108DOI Listing
September 2013

Long runs of homozygosity are enriched for deleterious variation.

Am J Hum Genet 2013 Jul 6;93(1):90-102. Epub 2013 Jun 6.

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710769PMC
July 2013

Changes in cystic fibrosis airway microbiota at pulmonary exacerbation.

Ann Am Thorac Soc 2013 Jun;10(3):179-87

Department of Pediatrics and Communicable Disease, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.

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http://dx.doi.org/10.1513/AnnalsATS.201211-107OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960905PMC
June 2013

Genomic estimates of aneuploid content in glioblastoma multiforme and improved classification.

Clin Cancer Res 2012 Oct 21;18(20):5595-605. Epub 2012 Aug 21.

Bioinformatics Program, University of Michigan, Ann Arbor, Michigan 48109, USA.

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http://dx.doi.org/10.1158/1078-0432.CCR-12-1427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477792PMC
October 2012

Decade-long bacterial community dynamics in cystic fibrosis airways.

Proc Natl Acad Sci U S A 2012 Apr 26;109(15):5809-14. Epub 2012 Mar 26.

Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1073/pnas.1120577109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326496PMC
April 2012

Inference of unexpected genetic relatedness among individuals in HapMap Phase III.

Am J Hum Genet 2010 Oct;87(4):457-64

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948801PMC
October 2010

Detecting simultaneous changepoints in multiple sequences.

Biometrika 2010 Sep 16;97(3):631-645. Epub 2010 Jun 16.

Department of Statistics , Stanford University , 390 Serra Mall, Stanford, California 94305-4065 , U.S.A.

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http://dx.doi.org/10.1093/biomet/asq025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372242PMC
September 2010

Characterization of X-linked SNP genotypic variation in globally distributed human populations.

Genome Biol 2010 Jan 28;11(1):R10. Epub 2010 Jan 28.

Department of Genetics, Stanford University, Mail Stop 5120, Stanford, California 94305, USA.

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http://dx.doi.org/10.1186/gb-2010-11-1-r10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847713PMC
January 2010

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.

Nat Genet 2008 Aug 20;40(8):963-70. Epub 2008 Jul 20.

Department of Genetics, Division of Radiation and CancerBiology, Stanford University, Stanford, California 94305, USA.

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http://dx.doi.org/10.1038/ng.188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3979291PMC
August 2008

Worldwide human relationships inferred from genome-wide patterns of variation.

Science 2008 Feb;319(5866):1100-4

Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5120, USA.

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http://dx.doi.org/10.1126/science.1153717DOI Listing
February 2008

Wild-type huntingtin participates in protein trafficking between the Golgi and the extracellular space.

Hum Mol Genet 2007 Feb 22;16(4):391-409. Epub 2006 Dec 22.

Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5120, USA.

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http://dx.doi.org/10.1093/hmg/ddl467DOI Listing
February 2007

An AP-1 binding site mutation in HPV-16 LCR enhances E6/E7 promoter activity in human oral epithelial cells.

Virus Genes 2002 ;24(1):29-37

Department of Head and Neck Surgery, The University of Texas M. D. Anderson Cancer Center, Houston 77030, USA.

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June 2003