A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

Adam H. Buchanan,Alanna Kulchak Rahm,Amanda L. Lazzeri,Amy C. Sturm,Cara Zayac McCormick,Carroll N. Flansburg,Christine Nicastro,David H. Ledbetter,David J. Carey,D’Andra M. Lindbuchler,F. Daniel Davis,Heather Mason-Suares,Janet L. Williams,Kandamurugu Manickam,Lauren Frisbie,Lisa Marie Mahanta,Marc S. Williams,Marci L.B. Schwartz,Matthew S. Lebo,Miranda L.G. Hallquist,Monica A. Giovanni,W. Andrew Faucett

The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels

Anna F？rnert,Billy Ngasala,Danielle Carpenter,Fengtang Yang,Ingegerd Rooth,Marie-Anne Shaw,Paulina Brajer,Sandra Louzada,Walid Algady

Deciphering the Emerging Complexities of Molecular Mechanisms at GWAS Loci

Maren E. Cannon

Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures

Jens Meiler,R. Michael Sivley,William S. Bush,Xiaoyi Dou

Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease

A. Jennifer Morton,Gabrielle H. Cannon,Loyal A. Goff,Paul W. Hook,Sarah A. McClymont,William D. Law

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

Azmi Hamzaoglu,Beyhan Tüysüz,Caroline D. Robson,Elias I. Traboulsi,Gulsen Akay Tayfun,Kirsten Ecklund,Nicole M. Gilette,Nursel H. Elcioglu,Sherin Shaaban,Silvio Alessandro Di Gioia,Wai-Man Chan

Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations

Amy E. O’Connell,Bharti Gangwani,Camilla Richmond,Daniel S. Kamin,David T. Breault,Fanny Zhou,Hannah Rickner,Jay R. Thiagarajah,Jefferson J. Doyle,Jeffrey D. Goldsmith,John Boyle,Judith Kelsen,Manasvi S. Shah,Quinn Murphy

Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant “Risk Variants”

Alexandra Janda,Callie S. Kwartler,Dongchuan Guo,James T. Stull,Jian Huang,Jiyuan Chen,Kristine E. Kamm,Limin Gong,Richard Kulmacz,Shanzhi Wang,Xue-yan Duan

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

Aminata Touré,Amir Amiri-Yekta,Charles Coutton,Christophe Arnoult,Denis Dacheux,Derrick R. Robinson,Guillaume Martinez,Habib Latrous,Hamid Gourabi,Karin Pernet-Gallay,Lazhar Halouani,Mahmoud Kharouf,Marie Christou-Kent,Michael Blum,Mounir Makni,Mélanie Bonhivers,Nicolas Landrein,Nicolas Thierry-Mieg,Ouafi Marrakchi,Pauline Le Tanno,Raoudha Zouari,Selima Fourati Ben Mustapha,Serge Crouzy,Thomas Karaouzène,Zine-Eddine Kherraf

De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome

Aiko Sato-Otsubo,Akira Ishiguro,Akira Ohara,Fumihiro Sugiyama,Hiroko Tanaka,Hirotoshi Sakaguchi,Hitoshi Kanno,Isao Hamaguchi,Kanji Sugita,Keisuke Kataoka,Kenichi Chiba,Kenichi Yoshida,Kiminori Terui,Koji Eto,Kumiko Goi,Madoka Kuramitsu,Masashi Sanada,Megumi C. Katoh,Naoya Kenmochi,Rika Kanezaki,RuNan Wang,Satoru Miyano,Satoru Takahashi,Seiji Kojima,Seishi Ogawa,Seiya Mizuno,Shouichi Ohga,Sou Nakamura,Takanobu Maekawa,Takuya Kamio,Tamayo Uechi,Tomohiko Sato,Tsutomu Toki,Yuichi Shiraishi,Yukari Nakajima,Yusuke Okuno,Yusuke Sato,Yusuke Shiozawa

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Ann Swillen,Bernice E. Morrow,Beverly S. Emanuel,Donna M. McDonald-McGinn,Elaine Zackai,Elfi Vergaelen,International 22q11.2 Brain and Behavior Consortium,Jeroen Breckpot,Koenraad Devriendt,Luis A. Pérez-Jurado,Marcos López-Sánchez,Matthew S. Hestand,Wolfram Demaerel

A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function

Aleksandra I. Adamovich,Jay Shendure,Justin Gullingsrud,Lea M. Starita,Muhtadi M. Islam,Stanley Fields,Tapahsama Banerjee

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Alessandro Bruselles,Andrea Ciolfi,Bruno Dallapiccola,Christiane K. Bauer,Daniela J. Claps Sepulveda,Frances High,Francesca Clementina Radio,Francesca Pantaleoni,Gianfranco Bocchinfuso,Giuseppe Zampino,Lorenzo Stella,Maria Cristina Digilio,Maria Lisa Dentici,Megan T. Cho,Nadia Falah,Paolo Calligari,Richard Person,Roberta Battini,Sabina Barresi,Sarah Richards,Simone Pizzi,Stefano Pro,Viviana Caputo

Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project

Zachary A. Szpiech

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Adam Zeman,Alastair H. MacLennan,Alba Sanchis-Juan,Alexander Asamoah,Alexander Rotenberg,Alexandra Afenjar,Annapurna Poduri,Antigone Papavasileiou,Betül Uysal,Boris Keren,Boudewijn Gunning,Brendan C. Lanpher,Britt-Marie Anderlid,Bronwyn Kerr,Candace T. Myers,Caroline Nava,Catherine Neumann,Changlian Zhu,Christelle M. El Achkar,Christina R. Fagerberg,Cyril Mignot,David A. Koolen,David Dimmock,Deciphering Developmental Disorders Study,Delphine Héron,Elizabeth Kichula,Eric Haan,Eric Segal,Eric T. Payne,Eric W. Klee,Erik-Jan Kamsteeg,Eva Goldmann,F. Lucy Raymond,Filippo Vairo,Francis Filloux,Gabriel Kringlen,Gerald W. Zamponi,Gregory D. Cascino,H. Jurgen Schelhaas,Holger Lerche,Imelda Hughes,Ingo Helbig,Ingrid E. Scheffer,Ivana A. Souza,Jacqueline C. Bahr,Jan-Mendelt Tillema,Jennifer Leonhard,Jessie C. Jacobsen,Jill Urquhart,Jordana Fox,Joshua Baker,Jozef Gecz,Julia Rankin,Julie McCarrier,Julien Buratti,Kari Casas,Karla Ruiz,Katherine L. Helbig,Katja Boysen,Kaya Bilguvar,Kelly E. Jackson,Keren J. Carss,Klaus Lehnert,Kristin Lindstrom,Kristina P. Soerensen,Lacey A. Smith,Lance H. Rodan,Lorenzo D. Botto,Lynette G. Sadleir,Malin Kvarnung,Margot A. Cousin,Maria A. Gandini,Maria Kibaek,Mark A. Corbett,Melinda A. Nolan,Michael C. Kruer,Michael J. Friez,Michael J. Lyons,Moira Blyth,Myra J. Wick,Nicholas Smith,Niklas Schwarz,Qinghe Xin,Randa Jarrar,Raymond Wang,Renzo Guerrini,Robert J. Lauerer,Russell G. Snell,Saskia Biskup,Sergio Padilla-Lopez,Sheng Chih Jin,Sherry Klingerman

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Abner L. Chan,Allen F. Ryan,Amanda G. Ruiz,Arnaud P.J. Giese,Ayesha Yousaf,Charles E. Robertson,Charlotte M. Chiong,Christopher Greenlee,Daniel N. Frank,David A. Schwartz,Deborah A. Nickerson,Dylan Ray,Edward So,Elisabet Einarsdottir,Erasmo Gonzalo d.V. Llanes,Eva Maria Cutiongco-de la Paz,Generoso T. Abes,Harold Pine,Herman A. Jenkins,Ivana V. Yang,Jeanne Benoit,Jeremy D. Prager,Jonathan Cardwell,Jordyn Dinwiddie,Juha Kere,Karen L. Mohlke,Kathleen A. Daly,Kenny H. Chan,Kimberly Mae C. Ong,Lena Hafrén,Ma. Leah C. Tantoco,Maria Rina T. Reyes-Quintos,Matthew J. Steritz,Melissa A. Scholes,Melquiadesa Pedro,Michael J. Bamshad,Michele M. Sale,Nanette R. Lee,Norman Friedman,Patricia J. Yoon,Patrick John Labra,Petri Mattila,Rachelle Marie A. Nonato,Rehan S. Shaikh,Rhodieleen Anne R. de la Cruz,Saima Riazuddin,Saira Yousaf,Samuel P. Gubbels,Sheryl Mae Lagrana-Villagracia,Stephen P. Cass,Suzanne M. Leal,Sven-Olrik Streubel,Talitha Karisse L. Yarza,Tasnee Chonmaitree,Teresa Luisa I. Gloria-Cruz,Todd M. Wine,Tori Bootpetch Roberts,University of Washington Center for Mendelian Genomics (UWCMG),Wasyl Szeremeta,Zubair M. Ahmed

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

A.W. Musk,Abbas Dehghan,Ahmad Vaez,Alan L. James,Alan R. Shuldiner,Alanna C. Morrison,Albert Hofman,Albert V. Smith,Albertine J. Oldehinkel,Alex P. Reiner,Alexander Teumer,Ali Abbasi,Anders Hamsten,Anders Larsson,Andrew A. Hicks,Andrew C. Heath,Andrew P. Morris,André G. Uitterlinden,Annette Peters,Anton J.M. de Craen,Antonietta Robino,Anubha Mahajan,Aurélien Macé,Ayse Bilge Ozel,Beate St. Pourcain,Benjamin Lehne,Beverly Balkau,Bhoom Suktitipat,Bjarke Feenstra,Bradford B. Worrall,Bram P. Prins,Brenda W.J.H. Penninx,Brendan M. Buckley,Bruce M. Psaty,CHARGE Inflammation Working Group,Carla M.T. Tiesler,Carlo Sidore,Carlos F. Mendes de Leon,Carola Marzi,Caroline Hayward,Catharina A. Hartman,Cecilia M. Lindgren,Charles Kooperberg,Christian Fuchsberger,Christian Mueller,Christie M. Ballantyne,Christopher Oldmeadow,Claes Ohlsson,Claudia Langenberg,Claudia Schurmann,Craig E. Pennell,Cristina Bombieri,Cristina Menni,Dan Mellstr？m,Daniel I. Chasman,Daniela Ruggiero,David J. Stott,David Liewald,David M. Evans,David P. Strachan,Dena Hernandez,Denis A. Evans,Dhananjay Vaidya,Diana van Heemst,Diane M. Becker,Diego Vozzi,Donna K. Arnett,Dorret I. Boomsma,Dragana Vuckovic,Eco J.C.N. de Geus,Edith Hofer,Eero Kajantie,Efthymia Vlachopoulou,Elisabeth Thiering,Elisabetta Trabetti,Elizabeth G. Holliday,Elnaz Naderi,Emelia J. Benjamin,Eric Boerwinkle,Erik Ingelsson,Erin N. Smith,Erwin P. Bottinger,Evelin Mihailov,Fabiola Del Greco M.,Fernando Rivadineira,Francesco Cucca,Franco Giulianini

HIPAA’s Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Addie Nesbitt,Alexander P.A. Stegmann,Anna Fliedner,Annapurna Poduri,Anne Gregor,Annick Toutain,Avni Santani,Bryan Krock,Constance Stumpel,Deciphering Developmental Disorders Study,Diana Johnson,Enrico D.H. Konrad,Ganka Douglas,Heather P. Crawford,Heinrich Sticht,Holly Dubbs,Johanna Grüner,Jonas Straub,Joost Nicolai,Lacey Smith,Levinus A. Bok,Maaike Vreeburg,Megan T. Cho,Meredith Phillips,Mohamad A. Mikati,Rebekah Jobling,Xilma R. Ortiz-Gonzalez,Z？e Powis

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

Alexander Hoischen,Alper Gezdirici,Andrew Parrish,Angela M. Vianna-Morgante,Atilla Cayir,Barbara Merfort Ferreira,Baylor-Hopkins Center for Mendelian Genomics,Bregje W.M. van Bon,Ceren D. Durmaz,Claudia M.B. Carvalho,Ebru Marzioglu-Ozdemir,Elif Yilmaz Gulec,Erin Beaver,Halil Gurhan Karabulut,Han G. Brunner,James R. Lupski,Janson J. White,Jennifer Heeley,Josue Flores-Daboub,Juliana F. Mazzeu,Julie Hoover-Fong,Julien Thevenon,Karen Stals,Marwan Shinawi,Mehmet B. Duz,Mehmet Seven,Renaud Touraine,Richard A. Gibbs,Shalini N. Jhangiani,Sian Ellard,Susan Price,V. Reid Sutton,Vahid Bahrambeigi,Yavuz Bayram,Zeynep Coban-Akdemir

The Expanding Landscape of Alternative Splicing Variation in Human Populations

Eddie Park,Lan Lin,Zhicheng Pan,Zijun Zhang

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

Alessandra Chesi,Andre G. Uitterlinden,Andre J. van Wijnen,Annelies Ham,Babette S. Zemel,Benjamin H. Mullin,Bernardo L. Horta,Bo Chawes,Bram C.J. van der Eerden,Bruce M. Psaty,Carol Wang,Carolina Medina-Gomez,Cheryl L. Ackert-Bicknell,Ching-Ti Liu,Christian J. Carlsson,Cindy G. Boer,Claes Ohlsson,Claudia Langenberg,Cornelia M. van Duijn,Craig Pennell,Daniel S. Evans,David Karasik,David M. Evans,Denise H.M. Heppe,Dennis O. Mook-Kanamori,Douglas P. Kiel,Eric Orwoll,Evangelia Ntzani,Evangelos Evangelou,Fernando P. Hartwig,Fiona E. McGuigan,Frances M.K. Williams,Graham R. Williams,Gudmar Porleifsson,Gunnar Sigurdsson,Hans Bisgaard,Hou-Feng Zheng,Ivana Nedeljkovic,J. Brent Richards,J.H. Duncan Bassett,James F. Wilson,Janine F. Felix,Jeroen van de Peppel,Jian’an Luan,Jing Hua Zhao,John A. Robbins,John G. Logan,John P. Kemp,John P. Walsh,Jonathan H. Tobias,Kari Stefansson,Katerina Trajanoska,Katharina E. Schraut,Klaus B？nnelykke,Kristina Akesson,Kun Zhu,Leon E. Jessen,Linda Broer,M. Arfan Ikram,M. Carola Zillikens,Maria Nethander,Martin den Heijer,Mattias Lorentzon,Mike A. Nalls,Mohsen Ghanbari,Mustafa Atalay,Najaf Amin,Nathalie Van der Velde,Nick Wareham,Peter I. Croucher,Raimo Joro,Rebecca D. Jackson,Renée de Mutsert,Robert Scott,Ruifang Li-Gao,Samuel K. Handelman,Scott G. Wilson,Struan F.A. Grant,Stuart H. Ralston,Tamara B. Harris,Tarunveer S. Ahluwalia,Timo A. Lakka,Timothy D. Spector,Unnur Styrkársdóttir,Vincent W. Jaddoe,Vincenzo Forgetta,Yanhua Zhou,Yongmei Liu

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

Alan P. Boyle,Anne Heidi Skogholt,Anthony Marcketta,Aris Baras,Brooke N. Wolford,Chad M. Brummett,Colm O’Dushlaine,David J. Carey,Ellen M. Schmidt,Erik Ingelsson,Erwin P. Bottinger,Frederick E. Dewey,Gon？alo R. Abecasis,Hakan Oral,Hyun M. Kang,H？vard Dalen,Ida Surakka,Inger Nj？lstad,Jacob Kitzman,Jesper H. Svendsen,Jonas B. Nielsen,José Jalife,Kristian Hveem,Lars G. Fritsche,Lena Refsgaard,Maiken E. Gabrielsen,Maja-Lisa L？chen,Maoxuan Lin,Marylyn D. Ritchie,Michael Boehnke,Michael H. Preuss,Morten S. Olesen,Oddgeir L. Holmen,Omri Gottesman,Robin Beaumont,Ruth J.F. Loos,Sarah E. Graham,Stefan Gustafsson,Tanya M. Teslovich,Timothy M. Frayling,Todd J. Herron,Tom Wilsgaard,Wei Zhou,Yunhan Chu

2017 William Allan Award

2017 Curt Stern Award Introduction: Nico Katsanis

2017 Curt Stern Award: The Complexity of Simple Genetics

2017 Victor A. McKusick Leadership Award Introduction: Arthur L. Beaudet

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

Anthony Drecourt,Arnold Munnich,Chris Ottolenghi,Christine Bole-Feysot,Florence Habarou,Floriane Petit,Isabelle Desguerre,Jo？l Babdor,Meriem Garfa-Traoré,Metodi D. Metodiev,Michael Dussiot,Nathalie Boddaert,Nicolas Goudin,Olivier Hermine,Patrick Nitschké,Valérie Serre

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

Biren Dave,Brad W. Doble,Brianna K. Unda,E. Robert Wassman,Erin Harward,Giovanna Pellecchia,Jacob Nielsen,James Stavropoulos,John Wei,Karen S. Ho,Kristin J. Hope,Leon Chalil,Lia D’Abate,Marc Woodbury-Smith,Marsha Speevak,Mohammed Uddin,Nadeem Murtaza,Nicholas T. Holzapfel,Sean H. White,Stephen W. Scherer,Sylvia Lamoureux,Thomas Nalpathamkalam,Vickie Kwan

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome

Eugene S. Chao,Fred A. Pereira,Huda Y. Zoghbi,Huifang Tao,Jiani Yin,Kaifang Pang,Li Wang,Mingshan Xue,Rodney C. Samaco,Sirena Soriano,Steven E. Cummock,Wei Wang,Wu Chen,Zhandong Liu

2017 ASHG Awards and Addresses

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Ange-Line Bruel,Arnaud Blanchard,Arnauld Delarue,Aurélie Bourchany,Bertrand Roquelaure,Caroline Lacoste,Catherine Badens,Catherine Guettier-Bouttier,Christel Thauvin-Robinet,Clothilde Esteve,Cécile De Leusse,Céline Brochier-Armanet,Emmanuel Gonzales,Emmanuelle Ecochard-Dugelay,Evelyne Marinier,Frédéric Huet,Géraldine Hery,Jacques Sarles,Jean-Baptiste Rivière,Jean-Pierre Hugot,Julien Thevenon,Karin Mazodier,Laurence Faivre,Ludmila Francescatto,Mina Komuta,Nicholas Katsanis,Nicolas Levy,Olivier Goulet,Patrice Bourgeois,Perciliz L. Tan,Philippe Gauchez,Raphaelle Maudinas,Sabine Sigaudy,Xavier Stephenne,Yannis Duffourd,Yves Rimet

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Andrew O.M. Wilkie,Arif B. Ekici,Astrid Weber,Beate Albrecht,Bernd Wollnik,Bernt Popp,Christian Büttner,Christian T. Thiel,Dagmar Wieczorek,Deciphering Developmental Disorders Study,Eduardo Calpena,Felix B. Engel,George Hoganson,Georgia Vasileiou,Hermann-Josef Lüdecke,Janine Altmüller,Jenny Morton,Jill Clayton-Smith,Karen Low,Maren Wenzel,Maria-Renée Plona,Marion Gerard,Megan T. Cho,Nuria C. Bramswig,Sabine Endele,Silvia Vergarajauregui,Susan Tomkins,Tim M. Strom,Yun Li

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

Adesola Ogunniyi,Alan B. Zonderman,Alanna C. Morrison,Albert Hofman,Albert Vernon Smith,Albertine J. Oldehinkel,Aldi T. Kraja,Alena Stan？áková,Alex P. Reiner,Alexandre C. Pereira,Alisa K. Manning,Alison D. Murray,Amy R. Bentley,Ananda R. Wickremasinghe,Andrea R.V.R. Horimoto,Andres Metspalu,Andrew P. Morris,André G. Uitterlinden,Anne B. Newman,Anne E. Justice,Anne U. Jackson,Annette Peters,Antonietta Robino,Anubha Mahajan,Anuj Goel,Anuradhani Kasturiratne,Aravinda Chakravarti,Archie Campbell,Babatunde L. Salako,Bamidele O. Tayo,Barbara V. Howard,Barry I. Freedman,Benjamin Lehne,Bernardo Lessa Horta,Brian Cade,Brigitte Kühnel,Bruce M. Psaty,Bruna Gigante,C. Charles Gu,Carl D. Langefeld,Caroline Hayward,Carsten O. Schmidt,Cathy C. Laurie,Changwei Li,Charles B. Eaton,Charles Kooperberg,Charles N. Rotimi,Charumathi Sabanayagam,Chew-Kiat Heng,Chiea Chuen Khor,Ching-Ti Liu,Ching-Yu Cheng,Christian Gieger,Christine Williams,Christopher P. Nelson,Chuan Gao,Claude Bouchard,Claudia Langenberg,Claudia P. Cabrera,Colin A. McKenzie,Colleen M. Sitlani,Cora E. Lewis,Cornelia M. van Duijn,Dabeeru C. Rao,Dan Arking,Daniel Levy,David R. Weir,Dennis O. Mook-Kanamori,Diane M. Becker,Dina Vojinovic,Donald W. Bowden,Dongfeng Gu,Donna K. Arnett,E. Shyong Tai,Eric Boerwinkle,Erin B. Ware,Ervin R. Fox,Erwin P. Bottinger,Evangelos Evangelou,Fang-Chi Hsu,Fernando Pires Hartwig,Francis S. Collins,Franco Giulianini,Frida Renstr？m,Fumihiko Takeuchi,Ganesh Chauhan,Georg Ehret,Gregory Wilson

Concern about Justifying the Release of Genomic Data as a Civil Right

Jennifer C. Dreyfus

Natural Selection Has Differentiated the Progesterone Receptor among Human Populations

David K. Stevenson,Jingjing Li,Louis J. Muglia,Michael Snyder,Sam Mesiano,Xiaobin Wang,Xiumei Hong

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Andrew A. Morris,Annika M. Dries,Bobbie-Jo M. Webb-Robertson,Charu Deshpande,Chunli Zhao,Daryl Waggott,David M. Koeller,Dianna G. Fisk,Erika M. Zink,Euan A. Ashley,Gregory M. Enns,Heino M. Heyman,Hugo J. Bellen,Ines A. Barbosa,Jason D. Merker,Jean M. Davidson,Jennefer N. Kohler,Jennifer E. Kyle,Johan L.K. Van Hove,Johannes A. Mayr,Jonathan A. Bernstein,Julie Hall,Katrina M. Waters,Kelly G. Stratton,Kyle Thompson,Kévin Contrepois,Laure Frésard,Liliana Fernandez,Marisa W. Friederich,Matthew Holmes,Megan E. Grove,Michael A. Simpson,Michael F. Wangler,Michael Snyder,Monika Oláhová,Paul G. Fisher,René G. Feichtinger,Robert McFarland,Robert W. Taylor,Sharayu Jangam,Shinya Yamamoto,Stephen B. Montgomery,Susan Schelley,Thomas O. Metz,Tina Cowan,Undiagnosed Diseases Network,Wan Hee Yoon,Yong Huang,Young-Mo Kim,Zachary Zappala

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Atsushi Fujita,Hirokazu Kanegane,Hisanori Minakami,Itaru Hayasaka,Kazuhiro Ogata,Kazunaga Agematsu,Kazutoshi Cho,Koh Nakata,Mari Tanaka-Kubota,Masaaki Shiina,Masafumi Yamada,Mishie Tanino,Naomichi Matsumoto,Noriko Miyake,Norimoto Kobayashi,Satoru Ikemoto,Satoshi Miyamoto,Tadashi Ariga,Takuma Akimoto

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

Amy L. McGuire,Anne M. Slavotinek,Barbara A. Koenig,Barbara B. Biesecker,Benjamin S. Wilfond,Benyam Hailu,Bradford C. Powell,Bruce D. Gelb,CSER consortium,Carol R. Horowitz,Christine Rini,David L. Veenstra,Donald W. Parsons,Eimear E. Kenny,Frank Angelo,Galen Joseph,Gregory M. Cooper,Jeannette T. Bensen,Jeffrey Ou,Jonathan S. Berg,Katie L. Lewis,Katrina A.B. Goddard,Kelly East,Kelly Filipski,Kristen Hassmiller-Lich,Laura M. Amendola,Leslie G. Biesecker,Lucia A. Hindorff,Mary E. Norton,Melissa P. Wasserstein,Mimsie Robinson,Neil Risch,Pui-Yan Kwok,Ragan Hart,Sara Knight,Sarah Scollon,Sharon E. Plon,Stephanie M. Fullerton

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

Alain C. Borczuk,Andrew F. Teich,Charles A. LeDuc,Charlotte L. Alston,Ching-Fun Lau,Christina Sofeso,Christoph Müller,David B. Beck,Donna Timchak,Elias Seidl,Frank Brasch,Germaine Pierre,Holger Prokisch,Jane Juusola,John Paul Bouffard,Leslie A. Nangle,Liting Zhai,Luise A. Schuch,Matias Wagner,Matthias Griese,Matthias Kappler,Mingjie Zhang,Monika Oláhová,Peter D. Turnpenny,Robert Kopajtich,Robert W. Taylor,Tom Hilliard,Wendy K. Chung,Wing-Sze Lo,Xiang-Lei Yang,Yeeting E. Chong,Zhiwen Xu

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Adelaida M. Celaya,Andy J. Beynon,Anne Oonk,Bas P. Hartel,Carel B. Hoyng,DOOFNL Consortium,Elena Gomez-Rosas,Erwin van Wijk,Hans J.P.M. Koenen,Helger G. Yntema,Henricus P.M. Kunst,Ignacio del Castillo,Ilse Feenstra,Irma Joosten,Isabel Varela-Nieto,Jaap Oostrik,Jack Weeda,Kees Okkersen,Margit Schraders,Mieke Wesdorp,Nicol C. Voermans,Pau Serra,Peter Lichtner,Ronald J.C. Admiraal,Ronald J.E. Pennings,Silvia Murillo-Cuesta,Stefan Lelieveld,Suzanne E. de Bruijn,Theo Peters

A One-Penny Imputed Genome from Next-Generation Reference Panels

Sharon R. Browning,Ying Zhou

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot

Alan T. Remaley,Alexis R. Heidlebaugh,Ane Miren Sagardia,Barbara B. Biesecker,Brian Brooks,Carlos Zarate,Carsten B？nnemann,D. Nadine Dogbe,Deborah Nielsen,Eileen Pelayo,Erin Turbitt,Francis J. McMahon,Ilias Alevizos,James C. Mullikin,Jeffrey Baron,Jennifer J. Johnston,Joel Moss,Julie C. Sapp,Kate Driscoll,Kendall L. Umstead,Leslie G. Biesecker,NISC Comparative Sequencing Program,Richard Siegel,Sandra Donkervoort,Teri A. Manolio,W. Marston Linehan,Youn Hee Jee

Fetal—Not Maternal—APOL1 Genotype Associated with Risk for Preeclampsia in Those with African Ancestry

Avi Z. Rosenberg,Bianca L. Ruiz,Cheryl A. Winkler,Claire L. Simpson,Csaba P. Kovesdy,Frances A. Tylavsky,Frederick J. Kaskel,George W. Nelson,Jack Jacob,Jeffrey B. Kopp,Joseph Myrie,Khyobeni Mozhui,Kimberly J. Reidy,Masako Suzuki,Rebecca C. Hjorten,Sandra E. Reznik,Soulin Haque,Stacy D. Rosenblum,Victor A. David,Xiaoping Yang

PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases

Jin-Dong Kim,Orion Buske,Toshihisa Takagi,Yasunori Yamamoto

Genetic Regulatory Mechanisms of Smooth Muscle Cells Map to Coronary Artery Disease Risk Loci

Abhiram Rao,Boxiang Liu,Clint L. Miller,Daniel J. Rader,Erik Ingelsson,Michael Gloudemans,Milos Pjanic,Stephen B. Montgomery,Susannah Elwyn,Sylvia Nurnberg,Ting Wang,Trieu Nguyen,Victor G. Castano

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

André Megarbane,Audrey Gnisci,Catherine Metzler-Guillemain,Christophe Beroud,Guy Longepied,Jean-Pierre Desvignes,Nicolas Levy,Pierre Besnier,Valérie Delague,Yasmina Auguste

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Andreea Manole,Ayse Ipek Polat,Brunhilde Wirth,Carlo Minetti,Ehsan Ghayoor Karimani,Elisa De Grandis,Gabriel Haddad,Guoliang Chai,Haicui Wang,He Huang,Henry Houlden,Holger Thiele,Janine Altmüller,Johanna M. van Hagen,Keith K. Vaux,Kerstin Becker,Lihadh Al-Gazali,Livia Pisciotta,Marjan M. Weiss,Mehran B. Toosi,Mert Karakaya,Michael G. Hanna,Mohammad Doosti,Nafise Amiri,Nicole I. Wolf,Pasquale Striano,Peter Nürnberg,Quinten Waisfisz,Reza Maroofian,Sebahattin Cirak,Shereen G. Ghosh,Stephanie Efthymiou,Tracy D. Salazar,Tuncay Derya Okur,Ugur Akpulat,Uluc Yis,Valentina Stanley,Vincenzo Salpietro

Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia

Craig B. Lowe,Janet H.T. Song

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

Alison J. Hardcastle,Anthony A. Vugler,Beatriz Sanchez-Pintado,Christina Zarouchlioti,Hannah J. Levis,Kalyan Dulla,Kirithika Muthusamy,Lubica Dudakova,Ma’ayan Semo,Michael E. Cheetham,Nathaniel J. Hafford Tear,Pavlina Skalicka,Peter Adamson,Petra Liskova,Pirro Hysi,Pontus Klein,Stephen J. Tuft