Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

Christopher Boustred,Evangelia Karampetsou,Fiona McKay,Kitty？K. Lo,Melissa Hill,Sarah Mason,Vincent Plagnol

Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans

Adam Szpiro,Adrienne Stilp,Anna Plantinga,Brian？L. Browning,Bruce？S. Weir,Caitlin？P. McHugh,Cathy？C. Laurie,Cecelia？A. Laurie,Chani？J. Hodonsky,Claudia Schurmann,Deepti Jain,George Papanicolaou,James？P. Davis,Jean？V. Morrison,Jerome？I. Rotter,Karen？L. Mohlke,Kari？E. North,Kathleen？F. Kerr,Ken Rice,Kent？D. Taylor,Leslie Baier,Lisa Brown,Matthew？P. Conomos,Nora Franceschini,Paul？L. Auer,Robert？L. Hanson,Ruth？J.F. Loos,Sarah？C. Nelson,Sharon？R. Browning,Stephanie？A. Bien,Stephanie？M. Gogarten,Stephen？S. Rich,Swarooparani Vadlamudi,Tamar Sofer,Timothy？A. Thornton,Ursula？M. Schick,Yongmei Liu

An Efficient Multiple-Testing Adjustment for eQTL Studies that Accounts for Linkage Disequilibrium between Variants

Alexis Battle,Carlos？D. Bustamante,David？A. Knowles,Joe？R. Davis,Laure Fresard,Mauro Pala

Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease

Brenda？W.J.H. Penninx,Dorret？I. Boomsma,Wouter？J. Peyrot

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Arcangela Iuso,Bader Alhaddad,Chris Mühlhausen,Clemens Küpper,Elisabeth Graf,Felix Distelmaier,Georg？F. Hoffmann,Gertrud Eckstein,Holger Prokisch,Laura？S. Kremer,Maja Hempel,Reka Kovacs-Nagy,René Santer,Riccardo Berutti,Richard Durbin,Robin Satanovskij,Sascha Sauer,Thomas Klopstock,Tim？M. Strom,Tobias？B. Haack

A Robust Example of Collider Bias in a Genetic Association Study

Felix？R. Day,Ken？K. Ong,Po-Ru Loh,Robert？A. Scott

A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood

Ciaran？M. Lee,Dalia Arafat,Gang Bao,Idowu Akinsanmi,Jing Zhao,Samridhi Banskota,T.J. Cradick,Urko？M. Marigorta

A Statistical Approach for Testing Cross-Phenotype Effects of Rare Variants

David？J. Cutler,Debashis Ghosh,Erin？B. Ware,Jacob？L. Moore,Jennifer？A. Smith,K.？Alaine Broadaway,Lawrence？F. Bielak,Min？A. Jhun,Patricia？A. Peyser,Richard Duncan,Sharon？L.R. Kardia,Wei Zhao

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Angelika Zwirner,Anne van？Riesen,Christoph Hübner,David Meierhofer,Ellen Knierim,Esther Gill,Franziska Seifert,Gudrun Schottmann,Hans？Hilmar Goebel,Hiromi Hirata,Janbernd Kirschner,Klaus Zerres,Mickael Orgeur,Nicole？I. Wolf,Sabine Rudnik-Sch？neborn,Sigmar Stricker,Stefanie Vogt,Susanne Morales-Gonzalez,Werner Stenzel,Yu Tanaka

A Locus at 5q33.3 Confers Resistance to Tuberculosis in Highly Susceptible Individuals

Alain Froment,Albert Magohe,C.？Fordham von？Reyn,Catherine？M. Stein,Chawangwa Modongo,Giorgio Sirugo,Isaac Maro,Jason？H. Moore,Keith Chervenak,LaShaunda？L. Malone,Laura？B. Scheinfeldt,Mecky Matee,Moses Joloba,Nicola Zetola,Noemi？B. Hall,Nuri Kodaman,Rafal？S. Sobota,Robert？P. Igo, Jr.,Sarah？A. Tishkoff,Thomas？B. Nyambo,Timothy Lahey,W.？Henry Boom,Wendy Wieland-Alter,William？K. Scott

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Ali Al？Asmari,Ayman？W. El-Hattab,Baylor-Hopkins Center for Mendelian Genomics,Charles？A. LeDuc,Davut Pehlivan,Donna Muzny,Ender Karaca,Eric Boerwinkle,Gozde Yesil,James？R. Lupski,Jill？A. Rosenfeld,Jill？V. Hunter,John？W. Belmont,Mohammad？K. Eldomery,Mohammed？A. Saleh,Richard？A. Gibbs,Shalini？N. Jhangiani,Wendy？K. Chung,Wu-Lin Charng,Yaping Yang,Yavuz Bayram,Zeynep Coban-Akdemir

Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue

Paul Scheet

DVL3 Alleles Resulting in a ？1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Alexander Hoischen,Alper Gezdirici,Baylor-Hopkins Center for Mendelian Genomics,Bregje？W.M. van？Bon,Claudia？M.B. Carvalho,Han？G. Brunner,James？R. Lupski,Janson？J. White,Juliana？F. Mazzeu,Marjorie Withers,Marloes Steehouwer,Richard？A. Gibbs,Shalini？N. Jhangiani,V.？Reid Sutton,Virginia Kimonis,Yavuz Bayram

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

Andrew？E. Timms,Anna Lehman,Brian Chung,Care4Rare Canada Consortium,Dana Jensen,David？J. Amor,Diana Alcantara,Heather Brandling-Bennett,Jacek Majewski,James？T. Bennett,John Su,Katherine？M. Christensen,Kym？M. Boycott,Laura？M. McDonell,Les？G. Biesecker,Malgorzata？J.M. Nowaczyk,Marjorie？J. Lindhurst,Mark O’Driscoll,Martine Tétrault,Raoul？C.M. Hennekam,Sarah Collins,Stephen？R. Braddock,SuYuen Ng,Tiong？Yang Tan,University of Washington Center for Mendelian Genomics,William？B. Dobyns

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Aine Rice,Alexander？F. Markham,Chris？F. Inglehearn,David？A. Mackey,David？F. Gilmour,Eric？A. Pierce,Hiroyuki Kondo,James？A. Poulter,Jamie？E. Craig,Jonathan？B. Ruddle,Kenshi Hayashi,Lisa？S. Kearns,Louise？M. Downey,Manir Ali,Moin？D. Mohamed

Response to Sandford et？al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine

Vinit？B. Mahajan

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Anne-Karin Arndt,Anneke？M. Lucassen,Anthony？P. Salmon,Ashok？K. Manickaraj,Barbara Mulder,Bernard Thienpont,Catherine Cosgrove,Catherine？L. Mercer,Chris Thornborough,Christine Harnack,David？I. Wilson,David？R. FitzPatrick,Frances？A. Bu’Lock,G.？Jawahar Swaminathan,Hans-Heiner Kramer,Hashim Abdul-Khaliq,Hugh Watkins,Ita？M. O’Kelly,J.？David Brook,Jacoba Louw,Javier Granados-Riveron,Jeroen Breckpot,Kerry Setchfield,Kirstin Hoff,Koen Devriendt,Lisa？C.A. D’Alessandro,Marc Gewillig,Marc-Phillip Hitz,Matthew？E. Hurles,Okan Toka,Reiner Siebert,Sabine Klaassen,Saeed Al？Turki,Sarah Lindsay,Sebastian？S. Gerety,Seema Mital,Shoumo Bhattacharya,Stephan Schubert,UK10K Consortium

Control for Population Structure and Relatedness for Binary Traits in Genetic Association Studies via Logistic Mixed Models

Adam？A. Szpiro,Adrienne？M. Stilp,Cathy？C. Laurie,Chaolong Wang,George？J. Papanicolaou,Han Chen,John？M. Brehm,Juan？C. Celedón,Kenneth Rice,Matthew？P. Conomos,Susan Redline,Tamar Sofer,Timothy？A. Thornton,Wei Chen,Zilin Li

Frequency and Complexity of De Novo Structural Mutation in Autism

Abhishek Bhandari,Alexandra？G. Moyzis,Alysson？R. Muotri,Amanda？C. Watts,Amina Noor,Charles？M. Strom,Christina Corsello,Daniel？J. Barrera,Danny Antaki,Dheeraj Malhotra,Eric Courchesne,Gabriel Rosanio,Gail？E. Reiner,Guan？Ning Lin,Jasper？A. Estabillo,Jeffrey Yuan,Kang Zhang,Karen Pierce,Karin？V.？Fuentes Fajardo,Keith？K. Vaux,Lawrence？C. Wong,Lilia？M. Iakoucheva,Madhusudan Gujral,Michael Baughn,Michelle？S. Maile,Natacha Akshoomoff,Oanh Hong,Renius Owen,Stephan？J. Sanders,Suzanne？M. Leal,Terry Solomon,Therese？E. Gadomski,Timothy？R. Chapman,William？M. Brandler

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Adriana？P. Rebelo,Alejandro Horga,Alexander？J. Abrams,Avencia Sanchez-Mejias,Cathy Woodward,Dana？M. Bis,Elena Buglo,Ellen Cottenie,Henry Houlden,Janice？L. Holton,Jeffrey Prince,Julian Blake,Julia？E. Dallman,Kasey Markel,Mary？G. Sweeney,Mary？M. Reilly,Matilde Laura,Michael Gonzalez,Michael Hanna,Michaela Auer-Grumbach,Milena Pinto

DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis

Abbas Dehghan,Ahmad Vaez,Akram Ghantous,Albert Hofman,Allan？C. Just,Allen Wilcox,Andrea？A. Baccarelli,Andrew？P. Feinberg,Anna Bergstr？m,Asa Bradman,Ashish Kumar,Augusto？A. Litonjua,Barbara Heude,Bernard？F. Fuemmeler,Bert Brunekreef,Bilal？M. Quraishi,Bonnie？R. Joubert,Brenda Eskenazi,Carlos Ruiz,Caroline？L. Relton,Carrie Breton,Cathrine Hoyo,Celeste Eng,Charles Auffray,Cheng-Jian Xu,Christina？A. Markunas,Christine Ladd-Acosta,Cilla S？derh？ll,Dawn？L. DeMeo,Dirkje Postma,Donglei Hu,Erik Melén,Esteban？G. Burchard,Eva Corpeleijn,Fahimeh Falahi,Gemma？C. Sharp,George？Davey Smith,Gerard？H. Koppelman,G？ran Pershagen,Harold Snieder,Hasan Arshad,Hector Hernandez-Vargas,Henning？W. Tiemeier,Hongmei Zhang,Inger Kull,Isabella Annesi-Maesano,Jack？A. Taylor,Janine？F. Felix,Jie Ren,Jin Yao,Johanna Lepeule,John Holloway,Jordi Sunyer,Josep？M. Antó,Joyce？B. van？Meurs,Juan？R. Gonzalez,Juha Kere,J？rg Tost,Karen Huen,Kelly？M. Bakulski,Leanne？K. Küpers,Liesbeth Duijts,Lisa？F. Barcellos,Lucas？A. Salas,M.？Daniele Fallin,Magnus Wickman,Marie-Aline Charles,Marie-France Hivert,Marie？José Saurel-Coubizolles,Mariona Bustamante,Mariona Pinart,Marjan Kerkhof,Marjolein？J. Peters,Martine Vrijheid,Matthew？W. Gillman,Michael？C. Wu,Monica？Cheng Munthe-Kaas,Nathana？l Lemonnier,Nina Holland,Nour Ba？z,Olena Gruzieva,Oscar？H. Franco,Paul Yousefi,Pieter Van？der？Vlies,Rebecca？C. Richmond,Roy？M. Nilsen,Sam？S. Oh,Sarah E. Reese,Sara？E. Benjamin？Neelon,Simon？Kebede Merid,Siri？E. H？berg,Soesma？A. Jankipersadsing

Ancestral Origins and Genetic History of Tibetan Highlanders

Bing Su,Chao Zhang,Dongsheng Lu,Haiyi Lou,Kai Yuan,Li Jin,Lian Deng,Longli Kang,Qidi Feng,Qiliang Ding,Shilin Li,Xiaoji Wang,Xiong Yang,Ya Hu,Yajun Yang,Yan Lu,Yaqun Guan,Ying Zhou,Yuchen Wang

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

Albert？C. Ludolph,Andreas？C. Themistocleous,Beate Schlotter-Weigel,Catharina Chiari,Christian Beetz,Daniela Weinmann,David？L.H. Bennett,Dennis Klein,Feifei Tao,Ilka B？hme,Jochen？H. Weishaupt,Lisa Abreu,Manuela Zitzelsberger,Maria Schabhüttl,Mary？M. Reilly,Matthew？B. Harms,Michael Gonzalez,Michaela Auer-Grumbach,Peter？M. Andersen,Regina Fink-Puches,Reinhard Windhager,Rudolf Martini,Sabine Rudnik-Sch？neborn,Stefan Toegel,Stephan Züchner,Steven？S. Scherer,Thomas Walther,Thomas Wieland,Tim？M. Strom,Wilfried Renner,William Motley

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Anna Wedell,Anna Wredenberg,Anu Suomalainen,Arcangela Iuso,Camilla Maffezzini,Christoph Freyer,Christopher？J. Carroll,Elisabeth Graf,Elke Holinski-Feder,Erika Ignatius,G？ran Brandberg,Henrik Stranneheim,Holger Prokisch,Jan Senderek,Javier Calvo-Garrido,Laura？S. Kremer,Manju？A. Kurian,Martin Dichgans,Martin Paucar,Matteo Gorza,Monika Hartig,Paola Venco,Per Svenningsson,Pirjo Isohanni,Riccardo Berutti,Rita Horvath,Susan？A. Hayflick,Thomas Meitinger,Tim？M. Strom,Tobias？B. Haack,Tuula L？nnqvist,Valeria Tiranti

Defining KIR and HLA Class I Genotypes at Highest Resolution via High-Throughput Sequencing

Elham Ashouri,Emily？E. Wroblewski,Jacques Chiaroni,James？A. Traherne,Jill？A. Hollenbach,John Trowsdale,Jorge？R. Oksenberg,Jyothi Jayaraman,Lisbeth？A. Guethlein,Mostafa Ronaghi,Neda Nemat-Gorgani,Peter Parham,Raja Rajalingam,Steven？J. Norberg,Wesley？M. Marin

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

André Reis,Bansri Furia,Christopher？R. Trotta,Damir Musaev,Eric Scott,Fowzan？S. Alkuraya,Heinrich Sticht,Kiely？N. James,Martin？W. Breuss,Miriam？S. Reuter,Mohammed Al-Owain,Rami Abou？Jamra,Rasim？O. Rosti,Tipu Sultan

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Amy McGuire,Arul？M. Chinnaiyan,Barbara？A. Bernhardt,Barbara？A. Koenig,Bartha？M. Knoppers,Benjamin？S. Wilfond,Brian Shirts,Carolyn？M. Hutter,Carrie？L. Blout,Charlisse？F. Caga-anan,Dan Robinson,David Kaufman,David？L. Veenstra,Deborah？A. Nickerson,Donald？W. Parsons,Donna Muzny,Ellen？W. Clayton,Gail？E. Henderson,Gail？P. Jarvik,Gloria？M. Petersen,Gregory？M. Cooper,Heidi？L. Rehm,Holly？K. Tabor,Ian？D. Krantz,Ingrid？A. Holm,J.？Scott Roberts,James？P. Evans,Jean McEwen,Jeffrey Ou,Jeremy？R. Garrett,Jonathan？S. Berg,Joon-Ho Yu,Joseph？S. Salama,Julia Wynn,Karen Weck,Katrina？A.B. Goddard,Kelly East,Kevin？M. Bowling,Kirk Wilhelmsen,Kyle？B. Brothers,Laura？M. Amendola,Laurence McCullough,Leslie？G. Biesecker,Levi？A. Garraway,Lucia？A. Hindorff,Michelle？Huckaby Lewis,Nancy？B. Spinner,Nikhil Wagle,Pasi？A. Janne,Paul？S. Appelbaum,Peter Tarczy-Hornoch,Richard？M. Myers,Richard？R. Sharp,Sarah Scollon,Sawona Biswas,Sharon？E. Plon,Stacy？W. Gray,Stephanie？M. Fullerton,Steven Joffe,Susan？M. Wolf,Teri？A. Manolio,Wendy？K. Chung,Wylie Burke,the CSER Consortium

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Alice？E. Davidson,Caroline？M.H. Thaung,Cerys？J. Evans,Geoffrey？J. Maher,Hana Hartmannová,Hannah？J. Levis,James Bellingham,Julie？T. Daniels,Katerina Jirsova,Kate？ina Hodaňová,Lenka Nosková,Lubica Dudakova,Martin Filipec,Michael？E. Cheetham,Neil？D. Ebenezer,Neyme Veli,Nikolas Pontikos,Noriaki Sasai,Nwamaka Idigo,Petra Liskova,Stanislav Kmoch,Stephen？J. Tuft,Viktor Stránecky,Vincent Plagnol,Zbyněk Kozmík

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

Daria Wojtal,Dwi？U. Kemaladewi,Elzbieta Hyatt,Evgueni？A. Ivakine,Francesco Muntoni,Hernan？D. Gonorazky,James Stavropoulos,James？J. Dowling,Kamel Mamchaoui,Michael？D. Wilson,Roberto Mendoza-Londono,Sarah Abdullah,Sergio Pereira,Tatianna？W.Y. Wong,Thomas Voit,Vincent Mouly,Zahra Baghestani,Zeenat Malam

Correlations between Synaptic Initiation and Meiotic Recombination: A Study of Humans and Mice

Carmen Rubio,Heather Maylor-Hagen,Jennifer？R. Gruhn,Karl？W. Broman,Nasser Al-Asmar,Patricia？A. Hunt,Rachael Fasnacht,Vanessa Peinado

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV

Bradley？P. Coe,Carl Baker,Deborah？A. Nickerson,Evan？E. Eichler,Michael？H. Duyzend,Xander Nuttle

Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors

Aida？M. Andrés,Michael Dannemann

Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos

Adam？A. Szpiro,Adrienne？M. Stilp,Alex？P. Reiner,Amanda？A. Seyerle,Anne？E. Justice,Brian？L. Browning,Bruce？S. Weir,Caitlin？P. McHugh,Cecelia？A. Laurie,Christy？L. Avery,George？J. Papanicolaou,Gerardo Heiss,Gregory？A. Talavera,Jerome？I. Rotter,John？R. Shaffer,Kari？E. North,Kathleen？F. Kerr,Ken Rice,Kent？D. Taylor,Kristin？L. Young,Lindsay Fernández-Rhodes,M.？Larissa Avilés-Santa,Mariaelisa Graff,Martha？L. Daviglus,Matthew？P. Conomos,Neil Schneiderman,Nora Franceschini,R.？Graham Barr,Robert？C. Kaplan,Sarah？C. Nelson,Sharon？R. Browning,Stephanie？M. Gogarten,Sylvia Wassertheil-Smoller,Tamar Sofer,Thomas Lumley,Timothy？A. Thornton

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Asbj？rg Stray-Pedersen,Baylor-Hopkins Center for Mendelian Genomics,Care4Rare Canada Consortium,Chunlei Cang,Clara？D.M. van？Karnebeek,Dejian Ren,Donna？M. Muzny,James？R. Lupski,Jan-Maarten Cobben,Kathinka Aslaksen,Kimberly Aranda,Maja Tarailo-Graovac,Marielle Alders,Martine Tétreault,Shalini？N. Jhangiani,Sohnee Ahmed,Sora Lee,Taila Hartley,Thorsten Gerstner,Trine？E. Prescott,Wen Qin

Invariant TAD Boundaries Constrain Cell-Type-Specific Looping Interactions between Promoters and Distal Elements around the CFTR Locus

Bryan？R. Lajoie,Emily？M. Smith,Gaurav Jain

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

Aram Shin,Diane Lucente,Jae？Whan Keum,James？F. Gusella,Jayalakshmi？Srinidhi Mysore,Kawther Abu？Elneel,Lesley Jones,Marcy？E. MacDonald,Michael Orth,Peter Holmans,Seung Kwak,Tammy Gillis,Tiffany Hadzi

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

Ali Alasmari,Eissa Faqeih,Hanan？E. Shamseldin,Joseph？G. Gleeson,Maha？S. Zaki

Whole-Genome Sequencing Reveals Diverse Models of Structural Variations in Esophageal Squamous Cell Carcinoma

Bin Song,Bin Yang,Caixia Cheng,Chanting He,Enwei Xu,Fang Wang,Gehong Zhang,Guodong Li,Haile Qiu,Haiyan Liu,Hongyi Li,Hu Fang,Jianfang Liang,Jiansheng Guo,Jiaqian Wang,Jie Yang,Jing Liu,Juan Wang,JunMei Jia,Li Ma,Lin Li,Ling Zhang,Pengzhou Kong,Qimin Zhan,Qingshan Li,Ruizhou Rong,Ruyi Shi,Shaoliang Peng,Shiping Guo,Shuaicheng Li,Teng Xiong,Ting Yan,Wen Luo,Xiangchun Li,Xiaodong Fang,Xiaofeng Yang,Xiaoling Hu,Xiaolong Cheng,Xing Chen,Xingmin Liu,Xukui Yang,Yanfeng Xi,Yanghui Bi,Yanlin Zhang,Yanyan Zhang,Yaoping Li,Yike Li,Yong Zhou,Yongping Cui,Yu Qian,Yunqing Chen,Zhenxiang Zhao,Zhiwei Han,Zhiwu Jia

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

Andrea Gropman,Bobby？G. Ng,Christopher Adams,Cornelius？F. Boerkoel,David？R. Adams,Helen？W. Cheung,Hudson？H. Freeze,Lynne？A. Wolfe,Mariska Davids,Megan？S. Kane,NISC Comparative Sequencing Program,Yan Huang

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Adriaan？G. Holleboom,Alexander Hoischen,Angel Ashikov,Dorothée Vicogne,Eva Morava,Francesco Porta,Fran？ois Foulquier,Geert van？den？Bogaart,Gerry Steenbergen,Giovanna Cenacchi,Helen Michelakakis,Jody Salomon,Joost？P.H. Drenth,Joris？A. Veltman,Jos？C. Jansen,Karin Huijben,Marina Moraitou,Marjolein？A.W. van？den？Boogert,Martijn？A. Huynen,Mersyni Mavrikou,Monique van？Scherpenzeel,Pier？Luigi Calvo,Richard？J. Rodenburg,Ron？A. Wevers,Sharita Timal

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Adriaan？G. Holleboom,Alexander Hoischen,Andrea Arnoldy,Angel Ashikov,Belén Pérez,Celia Medrano,Celia Pérez-Cerdá,Daisy Rymen,David Cheillan,Dorothée Vicogne,Dulce Quelhas,Etienne Sokal,Eva Morava,Fran？ois Foulquier,Geert van？den？Bogaart,Gerry Steenbergen,Gert Matthijs,Jaak Jaeken,Janine Reunert,Jody Salomon,Joost？P.H. Drenth,Joris？A. Veltman,Jos？C. Jansen,Karin Huijben,Lambertus？P. van？den？Heuvel,Luisa Diogo,Marie-Cécile Nassogne,Marjolein？A.W. van？den？Boogert,Martijn？A. Huynen,Monique van？Scherpenzeel,Nathalie Guffon,Olaf Kaiser,Patrick Gerner,Peter Krawitz,Ron？A. Wevers,Sebahattin Cirak,Sharita Timal,Stephan Rust,Thorsten Marquardt,Ulrike Schara,Yoshinao Wada,Yusuke Maeda

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Adam Jackson,Agne Liedén,Ann Nordgren,Bronwyn Kerr,Caroline？E. Laverriere,Catherine Sarret,Chiara Pantaleoni,Cristina Hernando,Céline Pebrel-Richard,Encarna Guillén-Navarro,Eric Glasgow,Francesca？L. Sciacca,Jennifer？L. Eaton,Katherine？E. Schertz,María？J. Ballesta-Martinez,Megan Thomas,Meriel McEntagart,Olaya Villa-Marcos,Paul？R. Kasher,Peter？E. Clayton,Philippe？M. Campeau,Ronnie Wright,Silvia Annunziata,Tiziana Granata

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Adekunle Adesina,Angus Wilfong,Anita Inwood,Art Beaudet,Bradley？P. Coe,Brett Graham,Carlos？A. Bacino,Christina？Y. Miyake,Christine？M. Eng,David Coman,Donna？M. Muzny,Eric Boerwinkle,Fan Xia,Fernando Scaglia,Francesco Vetrini,Gary Clark,Gladys Zapata,Gustavo？H.B. Maegawa,Hope Northrup,James？R. Lupski,Jane Crosson,Jessica Duis,Jill？A. Rosenfeld,Jim McGill,Jordan？S. Orange,Laura？S. Farach,Levi？B. Watkin,Lisa Emrick,Magalie？S. Leduc,Mahshid Azamian,Marwan Shinawi,Mary？Kay Koenig,Mohammad？K. Eldomery,Nada Memon,Neil？A. Hanchard,Patricia Hernandez,Penelope？E. Bonnen,Pengfei Liu,Richard？A. Gibbs,Seema？R. Lalani,Shalini？N. Jhangiani,Shujuan Pan,Susan Schelley,Theodore Chiang,Timothy Lotze,Tomasz Gambin,Wenmiao Zhu,Yael Wilnai,Yan Ding,Zeynep？Hande？Coban Akdemir

The Kalash Genetic Isolate? The Evidence for Recent Admixture

Cristian Capelli,Daniel Falush,David Reich,Garrett Hellenthal,George？B.J. Busby,Mark Lipson,Nick Patterson,Simon Myers

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Alice？S. Brooks,Angela Barnicoat,Angeline？Hwei？Meeng Lai,Ann Nordgren,Arja Harila-Saari,Britt-Marie？M. Anderlid,Brooke Latour,Bruno Reversade,Carlo？M. Marcelis,Christian Gilissen,Conny？M.A. van？Ravenswaaij-Arts,Deepti Domingo,Emma Hobson,Frank Probst,Grazia？M. Mancini,Han？G. Brunner,Helena Malmgren,Hermine？E. Veenstra-Knol,Jiin？Ying Lim,Jozef Gecz,Julie Vogt,Ka？Man Wu,Lachlan Jolly,Maaike Vreeburg,Margot？R.F. Reijnders,Nicola Cooper,Pilar Magoulas,Rolph Pfundt,Ronald Roepman,Sau？Wai Cheung,Stephen？A. Wood,Sue Price,Usha Kini,V.？Reid Sutton,Vasilios Zachariadis,Zornitza Stark,the DDD Study

2015 William Allan Award Introduction: Kay E. Davies

Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors

Aida？M. Andrés,Michael Dannemann

MEGSA: A Powerful and Flexible Framework for Analyzing Mutual Exclusivity of Tumor Mutations

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