SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data

Biao Li,Dajiang J. Liu,Di Zhang,Gao T. Wang,Linhai Zhao,Zongxiao He

Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression

Arno Ruusalepp,Claudia Giambartolomei,CommonMind Consortium,David L. Morris,Eric E. Schadt,Johan L.M. Bj？rkegren,Mads Engel Hauberg,Oscar Franzén,Pamela Sklar,Timothy J. Vyse,Wen Zhang

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

Carlo Vermeulen,Christina Vrettou,Davood Omrani,Elzo de Wit,Erik Splinter,Evelien Kruisselbrink,Ewart de Bruijn,Fatemeh Zeinali,Geert Geeven,George P. Patrinos,Gerard J. te Meerman,Hans Kristian Ploos van Amstel,Hossein Najmabadi,Jeffrey M. Beekman,Joanne Traeger-Synodinos,Marjon J.A.M. Verstegen,Melissa van Kranenburg,Rumo P.M. Jansen,Sara L. Pulit,Sima Kheradmand Kia,Theodora Katsila,Zahra Shahsavari

The Genetic Legacy of Zoroastrianism in Iran and India: Insights into Population Structure, Gene Flow, and Selection

Abigail L. Jones,Erik Jelinek,Lounès Chikhi,Lucy van Dorp,Mark G. Thomas,Michael E. Weale,Naser Ansari-Pour,Neil Bradman,Saioa López,Sarah Stewart,Tudor Parfitt

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

Anne de Saint Martin,Arjan P.M. de Brouwer,Attia Razzaq,Bénédicte Gérard,Ekaterina L. Ivanova,Elise Schaefer,Frédéric Tran Mau-Them,Hans van Bokhoven,Hilger Ropers,Hossein Najmabadi,Hélène Dollfus,Jean-Fran？ois Deleuze,Karen Runge,Kimia Kahrizi,Maria-Victoria Hinckelmann,Marie-Aude Spitz,Mary Laura,Muhammad Zaman Assir,Nathalie Drouot,Patrick Nitchké,Saima Riazuddin,Sheikh Riazuddin,Vincent Laugel,Zafar Iqbal

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Deidre R. Krupp,Eric Fombonne,Jean-Baptiste Rivière,Raphael Bernier,Rebecca A. Barnard,Ryan M. Mulqueen,Sara A. Evans,Yannis Duffourd

A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies

International Age-Related Macular Degeneration Genomics Consortium,Jingjing Yang,Lars G. Fritsche,Xiang Zhou

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Concei？？o Bettencourt,David Sims,Elizabeth Bamber,Esther B.E. Becker,Henry Houlden,Jennifer Lickiss,Jonathan Williams,Katherine Fawcett,Lauren M. Watson,Penny Clouston,Ricardo Parolin Schnekenberg,Samuel Clokie,Yvonne Wallis

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Alicia Guemez-Gamboa,Andreas Gerondopoulos,Anne Gregor,Bart Appelhof,Basak Rosti,Damir Musaev,Ercan Demir,Francis A. Barr,Frank Baas,Isaac Marin-Valencia,Maha S. Zaki,Mahmoud Y. Issa,Mariam Almureikhi,Sara Wirth,Susanne Roosing,Tawfeg Ben-Omran,Valentina Stanley

Human Germline Genome Editing

Alice Virani,Anna Middleton,Caroline E. Young,Daniel Shriner,Derek T. Scholes,Douglas P. Mortlock,Kiran Musunuru,Laura Hercher,Lawrence C. Brody,Nanibaa’ A. Garrison,Rosario Isasi,W. Andrew Faucett,Yvonne Bombard

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Carlo Marcelis,David Chitayat,Deciphering Developmental Disorders Study,Grazia M.S. Mancini,Han G. Brunner,Jill Clayton-Smith,Julie R. Jones,Katie Clarkson,Ken Corning,Maian Roifman,Margot R.F. Reijnders,Maria Kousi,Nicholas Katsanis,Nurhuda M. Ansor,Perciliz L. Tan,Rolph Pfundt,Ronald Cohn,Shehla Mohammed,Tom H. Millard,Wayne W.K. Lam,Wyatt W. Yue

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Concei？？o Bettencourt,David Sims,Elizabeth Bamber,Esther B.E. Becker,Henry Houlden,Jennifer Lickiss,Jonathan Williams,Katherine Fawcett,Lauren M. Watson,Penny Clouston,Ricardo Parolin Schnekenberg,Samuel Clokie,Sandeep Jayawant,Yvonne Wallis

Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits

Bogdan Pasaniuc,Nicholas Mancuso,Sarah Spendlove

Leveraging Multi-ethnic Evidence for Risk Assessment of Quantitative Traits in Minority Populations

Huaying Fang,Marc A. Coram,Sophie I. Candille,Themistocles L. Assimes

Genome-wide Ancestry and Demographic History of African-Descendant Maroon Communities from French Guiana and Suriname

Agnar Helgason,Andres Ruiz-Linares,Antoine Gessain,Antonio Salas,Berta Nelly Restrepo,Cesar Fortes-Lima,Efren Avenda？o-Tamayo,Florence Migot-Nabias,Gabriel Bedoya,Gil Bellis,Hannes Schroeder,J. Víctor Moreno-Mayar,Ludovic Orlando,M. Thomas P. Gilbert,Maria-Cátira Bortolini,Martin Sikora,Winston Rojas

CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions

Aaron McKenna,Choli Lee,Darren A. Cusanovich,Gregory M. Findlay,Jennifer H. Milbank,Melissa D. Zhang,Molly Gasperini

Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors

Aarne Palotie,Aki S. Havulinna,Antti-Pekka Sarin,Emma Raitoharju,Ilkka Sepp？l？,Johannes Kettunen,Jorma S. Viikari,Kristiina Aalto,Leo-Pekka Lyytik？inen,Marko Salmi,Markus Perola,Mika K？h？nen,Mikael Maksimow,Niina Pitk？nen,Olli T. Raitakari,Peter Würtz,Samuli Ripatti,Sirpa Jalkanen,Terho Lehtim？ki,Veikko Salomaa

A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Alexandre Voskuyl,Alfred Mahr,Andreas P. Diamantopoulos,Ann W. Morgan,Augusto Vaglio,Benedicte A. Lie,Bhaskar Dasgupta,Bobby P.C. Koeleman,Carlo Salvarani,Carol A. Langford,Christoph T. Berger,Cisca Wijmenga,Colin T. Pease,Daniel Blockmans,Eamonn S. Molloy,Elisabeth Brouwer,Francesco Bonatti,Giacomo Emmi,Inmaculada C. Morado,Javier Martín,Javier Narváez,Jennifer H. Barrett,José Hernández-Rodríguez,Julia Holle,Julien Haroche,Laurent Sailler,Lorenzo Beretta,Lorraine O’Neill,Luc Mouthon,Luigi Boiardi,Marc Ramentol-Sintas,Marcello Govoni,Marco A. Cimmino,María C. Cid,Miguel A. González-Gay,Nader Khalidi,Paul A. Monach,Paul Mclaren,Peter A. Merkel,Richard Watts,Roser Solans,Santos Casta？eda,Sarah L. Mackie,Spanish CGA Group,Steven Ytterberg,Thomas Daikeler,Thomas Neumann,Thomas Papo,Timothy J. Vyse,Torsten Witte,UKGCA Consortium,Vasculitis Clinical Research Consortium,Verena Sch？nau,Yannick Allanore,？yvind Molberg

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Alan C. Braverman,Albert Schinzel,Bert B.A. de Vries,Callie S. Kwartler,Deborah A. Nickerson,Dieter Kotzot,Dong Kim,Dong-chuan Guo,Dorothy K. Grange,Ellen S. Regalado,Heather L. Gornik,Kenneth Lieberman,Lauren Mellor-Crummey,Michael J. Bamshad,Min-Lee Yang,Rolph Pfundt,Santhi K. Ganesh,University of Washington Center for Mendelian Genomics,Xue-Yan Duan,Xuetong Shen

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Alex Magee,Aurora Pujol,Charles Coutton,Elise Schaefer,Francesca Mattioli,Ga？lle Vieville,Grazia M. Mancini,Gretchen Von Allmen,Jan Maarten Cobben,Jane Juusola,Jean-Louis Mandel,Klaus Dieterich,Marielle Alders,Marjon van Slegtenhorst,Mark Engelen,Paul Mark

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Alexander P.A. Stegmann,Alice Gardham,Anna Lehman,Berivan Baskin,Bianca Panis,CAUSES Study,Claudia Ruivenkamp,Constance T.R. Stumpel,Courtney Kiss,DDD Study,Elizabeth R. Roeder,Fan Xia,Fernando Scaglia,Gijs W.E. Santen,He Fu,Jennifer J. MacKenzie,Jill A. Rosenfeld,Justine Rousseau,Kezhi Yan,Laurie Robak,Lin Li,Lorraine Potocki,Margaret McKinnon,Maria J. Guillen Sacoto,Maria Vittoria Camurri,Megan T. Cho,Michael J. Parker,Mohammed Almannai,Natalie Canham,Norbert F. Ajeawung,Philippe M. Campeau,Rebecca Okashah Littlejohn,Thi Tuyet Mai Nguyen,Thomas P. Potjer,Weimin Bi

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Epi4K Consortium,Epilepsy Phenome/Genome Project,EuroEPINOMICS-RES Consortium

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Andrew A. Hardigan,Anju Shukla,Ashwin Dalal,Ayman W. El-Hattab,Benjamin Cogné,Bertrand Isidor,Edward J. Lose,Fanny Kortüm,Frederike Leonie Harms,Gregory M. Cooper,James R. Lupski,Jane Juusola,Katta M. Girisha,Kevin M. Bowling,Lauren Brady,Lynne M. Bird,Malik Alawi,Margaret Drummond-Borg,Mark Tarnopolsky,Martina Bebin,Matthew Bainbridge,Michelle Primiano,Mohammad K. Eldomery,Mohammed A.M. Saleh,Richard M. Myers,Sophia Ceulemans,Stéphane Bézieau,Susan M. Hiatt,Sébastien Küry,Wendy K. Chung,Wu-Lin Charng,Zeynep C. Akdemir

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Alexa T. McCray,Anastasia L. Wise,Cynthia J. Tifft,David R. Adams,Euan A. Ashley,John J. Mulvihill,Jonathan A. Bernstein,Joseph Loscalzo,Patrick Allard,Rizwan Hamid,Undiagnosed Diseases Network,Vandana Shashi,William A. Gahl

2016 Curt Stern Award Introduction: Brendan Lee

2016 Victor A. McKusick Leadership Award

Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy

Brent S. Pedersen

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

Chang-Hwan Park,Dong Seok Kim,Heung Dong Kim,Hoon-Chul Kang,Hyongbum (Henry) Kim,Jae Seok Lim,Joon Soo Lee,Junehawk Lee,Jung Min Han,Jung-Hwa Oh,Junho Kim,Minji Lee,Ramu Gopalappa,Sang Min Park,Sangwoo Kim,Se Hoon Kim,Suresh Ramakrishna,Woo-il Kim

Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits

Alexander Gusev,Gleb Kichaev,Huwenbo Shi,Nicholas Mancuso,Pagé Goddard

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

Arturo López-Castel,Christopher E. Pearson,Claudia Spits,Cynthia Gagnon,David Chitayat,Ioana Miron,Jean Mathieu,Julie Letourneau,Kathelijn Keymolen,Lise Barbé,Michael D. Wilson,Minggao Liang,Patrick Shannon,Rosanna Weksberg,Sanaa Choufani,Sara Seneca,Silvie Franck,Stella Lanni,Stephanie Tomé,Zdenek Sedlacek,Zuzana Musova

Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation

August Y. Huang,Dennis J. Konczyk,Javier A. Couto,Jeremy A. Goss,John B. Mulliken,Matthew L. Warman,Steven J. Fishman

Thyroglobulin in Metastatic Thyroid Cancer: Culprit or Red Herring?

Lamis Yehia,Ying Ni

Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits

Andrew D. Johnson,Chen Yao,Chunyu Liu,David E. Hill,Jane E. Freedman,Marc Vidal,Peter J. Munson,Roby Joehanes,Tianxiao Huan

Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation

Barbara E. Stranger,Benjamin F. Voight,Benjamin M. Neale,Boel Brynedal,JinMyung Choi,Robert Bjornson,Towfique Raj

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Aiden Eblimit,Alessia Fiorentino,Alison J. Hardcastle,Andrew R. Webster,Anna Lehman,Carmen Ayuso,Christine Bole-Feysot,Christopher T. Gordon,Claude Besmond,Daniel F. Schorderet,Darwin Babino,Gavin Arno,Ga？tan Pinton,Hana Abouzeid,Hervé Le Hir,Huajin Li,Hui Li,Ihab S. Osman,Isabel Lorda-Sanchez,Jeanne Amiel,Johannes von Lintig,Laurence Hubert,Liliana F. Azevedo,Linda Bapst-Wicht,Lizhu Yang,Michael E. Cheetham,Michel Michaelides,Miguel A. Lopez-Martinez,Mingchu Xu,Myriam Oufadem,Nathalie Allaman-Pillet,Nikolas Pontikos,Patrick Nitschké,Peter Stoilov,Rachayata Dharmat,Rando Allikmets,Rolph Pfundt,Rosa Riveiro-Alvarez,Rui Chen,Ruifang Sui,Smriti A. Agrawal,Stanislas Lyonnet,UK Inherited Retinal Dystrophy Consortium,Valeria Kheir,Vincent Plagnol,Virginia Busetto,Yajing (Angela) Xie,Yumei Li,Zachry T. Soens,Zhisheng Yuan,Zixi Sun

2016 Presidential Address: Let’s Make Human Genetics Great (Again): The Importance of Beauty in Science

2016 William Allan Award Introduction: James Gusella

2016 ASHG Awards and Addresses

The Genetic Architecture of Gene Expression in Peripheral Blood

Alexander Holloway,Allan McRae,Andres Metspalu,Andrew Bakshi,Biao Zeng,Grant Montgomery,Greg Gibson,Jian Yang,Jing Zhao,Kerrin Small,Luke R. Lloyd-Jones,Manolis Dermitzakis,Peter M. Visscher,Tim Spector,Tonu Esko

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Allyn McConkie-Rosell,Asbjorg Stray-Pedersen,Cara M. Skraban,David B. Goldstein,David R. Bearden,Deeksha Bali,Eriskay Liston,Fernando Scaglia,Francisca Millan,Hane Lee,James R. Lupski,Jennifer E. Posey,Jennifer Tarpinian,Jeremy N. Friedman,Jill A. Rosenfeld,Joan Jasien,Julian A. Martinez-Agosto,Kelly Schoch,Linyan Meng,Marie McDonald,Matthew A. Deardorff,Michael F. Wangler,Michael Freemark,Mohamad A. Mikati,Naghmeh Dorrani,Nicholas Stong,Nicole Walley,Oyvind L. Busk,Peter G. Kranz,Ronald D. Cohn,Rui Xiao,Sharon Freedman,Sherri Bale,Stanley F. Nelson,Stephanie Burns Wechsler,Sujay Kansagra,Szabolcs Szelinger,UCLA Clinical Genomics Center,Undiagnosed Diseases Network,Yaping Yang,Zeynep Coban Akdemir

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

Alan E. Renton,Alison M. Goate,Biao Li,Di Zhang,Gao T. Wang,Linhai Zhao,Richard Mayeux,Zongxiao He

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Alexander Hoischen,Anne De Paepe,Ariana Kariminejad,Bert Callewaert,Bj？rn Fischer-Zirnsak,Brecht Guillemyn,Brian H.Y. Chung,Christian Thiel,Christopher C.Y. Mak,Daisy Dalloyaux,Delfien Syx,Dirk J. Lefeber,Erik-Jan Kamsteeg,Eva Morava,Fransiska Malfait,G. Christoph Korenke,Gulen E. Utine,Ingrid Hausser,Leo Nijtmans,Miski Mohamed,Monique van Scherpenzeel,Paul Coucke,Payman Jamali,Peter Freisinger,Peter K.C. Leung,Riet De Rycke,Sanne van Kraaij,Sergio Guerrero-Castillo,Siavash Ghaderi-Sohi,Sofie Symoens,Sunnie Y. Wong,Thatjana Gardeitchik,Thomas Meitinger,Tim M. Strom,Tim Van Damme,Tobias B. Haack,Ulrich Brandt,Uwe Kornak,Wouter Steyaert,Yasemin Alanay

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Alessia Fiorentino,Alison J. Hardcastle,Anthony G. Robson,Anthony T. Moore,Ceniz Zihni,F. Lucy Raymond,Gavin Arno,Graham E. Holder,Karl Matter,Keren J. Carss,Maria S. Balda,Michael E. Cheetham,NIHR Bioresource - Rare Diseases Consortium,Sarah Hull,UK Inherited Retinal Disease Consortium,Vincent Plagnol

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

Alan E. Renton,Alison M. Goate,Biao Li,Di Zhang,Gao T. Wang,Linhai Zhao,Richard Mayeux,Zongxiao He

Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits

Alanna C. Morrison,Bing Yu,Christie Ballantyne,Donna Muzny,Elena Feofanova,Fuli Yu,Ginger Metcalf,Josef Coresh,Navin Rustagi,Richard Gibbs,Xiaoming Liu,Zhuoyi Huang

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

Aisha Al Shamsi,Chantal Poulin,Christina Nassif,Fadi F. Hamdan,Guy A. Rouleau,Jacques L. Michaud,Jill A. Rosenfeld,Lihadh Al Gazali,Noriaki Shimokawa,Noriyuki Koibuchi

Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues

Alexander Gusev,Benjamin M. Neale,Brendan Bulik-Sullivan,Fred A. Wright,Gaurav Bhatia,Hilary K. Finucane,Luke O’Connor,Patrick F. Sullivan,Steven Gazal,Xuanyao Liu

Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes

Daniel C. Factor,Grace M. Hobson,Jeremy Laukka,Martha S. Windrem,Panagiotis Douvaras,Robert T. Karl,Steven A. Goldman,Valentina Fossati,Zachary S. Nevin

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Abhishek Nag,Adam Locke,Adam S. Butterworth,Albert Hofman,Aliki-Eleni Farmaki,Alireza Moayyeri,Alisa K. Manning,Andrew A. Crawford,Andrew P. Morris,André G. Uitterlinden,Anette Varbo,Angela Matchan,Anne Tybjaerg-Hansen,Antonella Mulas,Audrey E. Hendricks,Beate St Pourcain,Benjamin Lehne,Brian R. Walker,B？rge G. Nordestgaard,Carlo Sidore,Carolina Medina-Gomez,Caroline Relton,Cecilia Lindgren,Celia M.T. Greenwood,Chris Finan,Christopher J. Hammond,Cinzia Sala,Claudia Langenberg,Cristina Bombieri,Daniela Toniolo,Dániel Süveges,Emanuele Di Angelantonio,Fernando Rivadeneira,Francesco Cucca,George Davey Smith,George Dedoussis,Gialuigi Zaza,Giovanni Gambaro,Giovanni Malerba,GoT2D Consortium,Graham R.S. Ritchie,Hashem A. Shihab,Inês Barroso,Ioanna Ntalla,Ioanna Tachmazidou,Janine F. Felix,Jaspal S. Kooner,Jeremy Schwartzentruber,Jian’an Luan,Jie Huang,John C. Chambers,John P. Kemp,John R.B. Perry,Josine L. Min,Julia Steinberg,Kalliope Panoutsopoulou,Katerina Trajanoska,Kerrin S. Small,Klaudia Walter,Konstantinos Hatzikotoulas,Lavinia Paternoster,Lorraine Southam,Magdalena Zoledziewska,Marcus Kleber,Marianne Benn,Marjolein N. Kooijman,Mark I. McCarthy,Markus Perola,Martin D. Tobin,María S. Artigas,Massimiliano Cocca,Michael Boehnke,Michal Szpak,Michela Traglia,Narinder Bansal,Nicholas J. Timpson,Nicholas J. Wareham,Nicole Soranzo,Nigel W. Rayner,Oliver Stegle,Oscar H. Franco,Paolo Gasparini,Paul Burton,Pekka Jousilahti,Petr Danecek,Richard Durbin,Robert A. Scott,Sarah J. Metrustry

Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression

Arno Ruusalepp,Claudia Giambartolomei,CommonMind Consortium,David L. Morris,Eric E. Schadt,Johan L.M. Bj？rkegren,Mads Engel Hauberg,Oscar Franzén,Pamela Sklar,Timothy J. Vyse,Wen Zhang