Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits

A. Mesut Erzurumluoglu,Abbas Dehghan,Adele M. Taylor,Afshan N. Malik,Aldi T. Kraja,Alexander Teumer,Alison Pattie,Allan Linneberg,Amit Patki,Andre G. Uitterlinden,Anna E. Jonsson,Anne B. Newman,Anne E. Justice,Aravinda Chakravarti,Astrid Petersmann,Audrey Y. Chu,Bernardo L. Horta,Bharat Thyagarajan,Bruce S. Weir,Caroline Hayward,Charles Gu,Cheryl D. Cropp,Christian Theil Have,Christian Torp-Pedersen,Christine Williams,Chunyu Liu,Claudia Langenberg,Cramer Christensen,D.C. Rao,Dan E. Arking,Daniel I. Chasman,Daniel Levy,Daniel R. Witte,Dennis O. Mook-Kanamori,Dhananjay Vaidya,Diana van Heemst,Diane M. Becker,Donald W. Bowden,Donglin Zeng,Donna K. Arnett,E. Warwick Daw,Eliana P. Fernandez,Ellen A. Nohr,Evie Stergiakouli,Fernando P. Hartwig,Fernando Rivadeneira,Franco Giulianini,Frits R. Rosendaal,Gail Davies,Gavin Hudson,Georg Homuth,Gibran Hemani,He Gao,Hemant K. Tiwari,Henrik Vestergaard,Hongsheng Wu,Hugoline G. de Haan,Ian J. Deary,Ioanna Tzoulaki,Ivan Brandslund,James A. Perry,James B. Meigs,James G. Wilson,James Pankow,Janie Corley,Jerome I. Rotter,Jessica L. Fetterman,Jian’an Luan,Jie Yao,John M. Starr,Joseph H. Lee,Kaare Christensen,Kathleen A. Ryan,Ken K. Ong,Keng-Hung Lin,Kent D. Taylor,Kevin Sandow,Klaus Bonnelykke,Kristin Young,Latisha D. Love-Gregory,Leslie S. Emery,Lihua Wang,Lisa R. Yanek,Lisa de las Fuentes,M. Arfan Ikram,Mao Fu,Marguerite R. Irvin,Maria Argos,Mariaelisa Graff,Marit E. J？rgensen,Mariza de Andrade,Mark O. Goodarzi,Mary F. Feitosa

Practical and Ethical Considerations of Using Personal DNA Tests with Middle-School-Aged Learners

Jennifer K. Wagner,Jose R. Fernandez,Mark D. Shriver,Nina G. Jablonski

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Alma Kuechler,Barak Tziperman,Bert B.A. de Vries,Cacha M.P.C.D. Peeters-Scholte,Carlo Marcelis,Carlos R. Ferreira,Christopher T. Gordon,Dagmar Wieczorek,Dorien Haesen,Elise Brimble,Ellen Macnamara,Ernie M.H.F. Bongers,Heather Mclaughlin,Hilde M.H. Braakman,Jeanne Amiel,Jessica Scott Schwoerer,Jolanda H. Schieving,Koen L. van Gassen,Marjolein Kriek,Marlène Rio,Matias Wagner,Maura R.Z. Ruznikov,Nicole Revencu,Nienke Verbeek,Ortal Barel,Paulien A. Terhal,Philip Harrer,Roger Ladda,Saleem Malik,Sandra Jansen,Sara Reynhout,Siska van Belle,Sonja A. de Munnik,Sonja Henry,Susan Sell,Veerle Janssens

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

Abdul Haseeb,Alisdair McNeill,Ash Zawerton,Baojin Yao,Claudio Graziano,Daniela T. Pilz,Deciphering Developmental Disorders Study,J. Paige Yeager,John C.S. Dean,Joshua D. Smith,Lisa Wischmann,Susan E. Holder,Susanne J. Kühl,Tommaso Pippucci,University of Washington Center for Mendelian Genomics

Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies

Adolfo Correa,Alanna C. Morrison,Alex P. Reiner,Andrew D. Johnson,Braxton D. Mitchell,Brian E. Cade,Cathy C. Laurie,Chaolong Wang,Charles Kooperberg,David C. Glahn,Edwin K. Silverman,Eric Boerwinkle,Han Chen,Ingrid B. Borecki,James G. Wilson,Jeffrey R. O’Connell,Jennifer A. Brody,Jennifer A. Smith,Jennifer E. Huffman,Jerome I. Rotter,Joanne E. Curran,John Blangero,Joshua C. Bis,Joshua P. Lewis,Kenneth M. Rice,L. Adrienne Cupples,Lawrence F. Bielak,Lisa R. Yanek,Michael H. Cho,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,Nicholas L. Smith,Patricia A. Peyser,Paul S. de Vries,Ramachandran S. Vasan,Rasika A. Mathias,Russell P. Bowler,Seunggeun Lee,Sharon Kardia,Stephanie M. Gogarten,Stephen S. Rich,Susan Redline,TOPMed Hematology and Hemostasis Working Group,Tamar Sofer,Wendy S. Post,Xiaoming Liu,Xiuqing Guo,Zilin Li

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Andrew R. Wood,Andrew T. Hattersley,Ben West,Caroline F. Wright,Jessica Tyrrell,Kashyap Patel,Marcus Tuke,Robin N. Beaumont,Samuel E. Jones,Thomas W. Laver,Timothy M. Frayling

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

Antoine Poli,Arienne Mirmiran,Boualem Moulouel,Caroline Schmitt,Ga？l Nicolas,Hana Manceau,Hervé Puy,Hugo Lenglet,Jean-Charles Deybach,Jean-Jacques Lacapère,Katell Peoc'h,Raêd Daher,Sylvie Simonin,Thibaud Lefebvre,Vincent Oustric,Zoubida Karim

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,Azita Sadeghpour,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,Erica E. Davis,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 Katsanis,Nicholas Smith,Niklas Schwarz,Qinghe Xing,Randa Jarrar,Raymond Wang,Renzo Guerrini,Robert J. Lauerer,Russell G. Snell,Saskia Biskup

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

Abdul Haseeb,Alisdair McNeill,Ash Zawerton,Baojin Yao,Claudio Graziano,Daniela T. Pilz,Deciphering Developmental Disorders Study,J. Paige Yeager,John C.S. Dean,Joshua D. Smith,Lisa Wischmann,Susan E. Holder,Susanne J. Kühl,Tommaso Pippucci,University of Washington Center for Mendelian Genomics

2018 William Allan Award Introduction: Eric S. Lander

Prohibiting Genetic Discrimination to Promote Science, Health, and？Fairness

Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness

Dalton Hermans,David M. Gamm,De-Ann M. Pillers,Divya Sinha,Elizabeth Capowski,Hannah Moulton,Katarzyna D. Borys,Pawan K. Shahi,Sabrina Stulo,Simran Brar

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance

Brett Copeland,Charles J. Wolock,David B. Goldstein,Nicholas Stong,Sitharthan Kamalakaran,Tristan J. Hayeck

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

Ashleigh Hanner,Barry Wolf,Charles A. LeDuc,Danielle Karlowicz,Jiayao Wang,Joanna Lee,Julia Tagoe,Kentaro Yamada,Leah R. Padgett,Liyong Deng,Marie McDonald,Mythily Ganapathi,Myung Hee Park,Orrin Devinsky,Ping-Yee Billie Au,Raghavendra G. Mirmira,Rebecca Willaert,Richard Person,Teresa L. Mastracci,Volkan Okur,Yufeng Shen

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture

Alexander Y. Ing,Angharad M. Roberts,Anne H. O’Donnell-Luria,Birgit Funke,Daniel G. MacArthur,Eric Minikel,Helen Sage,Kate L. Thomson,Konrad J. Karczewski,Nicola Whiffin,Paul J.R. Barton,Roddy Walsh,Steven M. Harrison,Stuart A. Cook,Zach Zappala

Response to Whiffin et？al.

C. Thomas Caskey,Hung-Chun Yu,J. Craig Venter,Naisha Shah,Rachana Sainger,Ying-Chen Claire Hou

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

Anna De Grassi,Avraham Shaag,Ciro Leonardo Pierri,Claudia M. Nicolae,Giuseppe Punzi,Grace J. Noh,Jennifer E. Burton,Jessica Bischetsrieder,Orly Elpeleg,Simon Edvardson

GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology

Andrew R. Wood,Benjamin Neale,Cecilia M. Lindgren,Chia-Yen Chen,Craig A. Glastonbury,Jamie W. Harrison,Jenny Censin,Jessica Tyrrell,Jonas Bovijn,Jordan W. Smoller,Katherine S. Ruth,Leigh Jackson,Michael N. Weedon,Michael V. Holmes,Reedik M？gi,Robin N. Beaumont,Samantha Laber,Samuel E. Jones,Sara L. Pulit,Teresa Ferreira,Triin Laisk

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Barbara R. Grubb,Brian J. Mitchell,Corey M. Jania,Estelle Escudier,Eva J. Brotslaw,Kirby L. Zeman,Laura E. Herring,Lawrence E. Ostrowski,Luc Refabért,Lucie Thomas,Marie Legendre,Michael E. Werner,Michael R. Knowles,Patrick R. Sears,Serge Amselem,Troy D. Rogers,Wei-Ning Yin,Ximena M. Bustamante-Marin

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Amanda S. Freed,Andrew J. Gifford,Anna F. Lee,Anne Chun-Hui Tsai,Arie van Haeringen,Arnaud Molin,Benjamin Cogné,Bertrand Isidor,Bruce Bennetts,Catherine L. Mercer,Catherine Ward-Melver,Cedric Le Caignec,Chantal Missirian,Chester W. Brown,Claire Bénéteau,Claudia G. Gonzaga-Jauregui,Cornelius F. Boerkoel,Damien Sanlaville,Daryl A. Scott,David Mowat,Dominique Carles,Dorothy K. Grange,Edwina Popek,Eric Bieth,Fernando Scaglia,Florence Petit,Francesco Vetrini,Gail Deutsch,Galen M. Schauer,Gwenaelle André,Heather C. Mefford,Iben Bache,James R. Lupski,Jean P. Pfotenhauer,Jean-Michel Liet,Jelena Martinovic,Jennifer N. Dines,John A. Phillips, 3rd,Justyna A. Karolak,Jérémie Mortreux,Kathleen A. Leppig,Katie Golden-Grant,Katrina Dipple,Lara Chalabreysse,Laurent Pasquier,Linda Pons,Louise Devisme,Madeleine Joubert,Maria Orsaria,Marie Denis-Musquer,Marie Vincent,Mark H. Lipson,Martin A. Weber,Massimiliano Don,Megan Dishop,Nicolas Chassaing,Nicolas Joram,Olivier Pichon,Przemyslaw Szafranski,Qian Liu,Shalini N. Jhangiani,Stéphane Bézieau,Sébastien Küry,Thomas Besnard,Tina M. Bartell,Tiphaine Bihouée,Tomasz Gambin,Véronique Secq,Wendy K. Chung,Zeynep H. Coban Akdemir,Zeynep Tümer

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Alexander P.A. Stegmann,Alexander Pepler,Bianca Panis,Campbell Brasington,Candace N. Gamble,Carolyn Wilson,Constance Smith-Hicks,Constance T.R.M. Stumpel,Deepali N. Shinde,Fernando Kok,Hailey Pinz,Hanna Mandel,Heinrich Sticht,Johannes R. Lemke,Kaitlin M. Angione,Kenneth G. Miller,Kirsty McWalter,Laurie A. Demmer,Luiza Ramos,Maria Iascone,Maria T. Bonati,Megan T. Cho,Nataliya Di Donato,Petra St？be,Rami Jamra,Sonal Mahida,Stacey L. Edwards,Thorsten Marquardt,Tzipora Falik-Zaccai,William Allen,Yorck Hellenbroich

Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics

Amy C. Sturm,Caitlin G. Allen,Catharine Wang,Cinnamon S. Bloss,Elva M. Arredondo,Kimberly A. Kaphingst,William M.P. Klein

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Amy J. LaCroix,Angela L. Duker,Candace T. Myers,Carrie Fagerstrom,Dan Doherty,Daniel G. Miller,Deborah A. Nickerson,Deborah Stabley,George Anadiotis,Heather C. Mefford,Jennifer C. Dempsey,Karen W. Gripp,Katherine M. Robbins,Kelly Kernan,Margaret P. Adam,Martin Kircher,Michael B. Bober,Michael J. Bamshad,Michele Mehaffey,Rebecca Sahraoui,University of Washington Center for Mendelian Genomics,Wagner A.R. Baratela,Yassmine M. Akkari

The Genetic Landscape of Diamond-Blackfan Anemia

Aaron Cheng,Adrianna Vlachos,Alan H. Beggs,Andrei A. Korostelev,Anne H. O’Donnell-Luria,Anupama Narla,Bertil Glader,Beryl B. Cummings,Casie A. Genetti,Claudia Fiorini,Colin A. Sieff,Daniel G. MacArthur,Daniel Yuan,David G. Nathan,David J. Amor,Edyta Niewiadomska,Elaine T. Lim,Eric S. Lander,Eva Atsidaftos,Giulio Genovese,Jacob C. Ulirsch,Jeffrey M. Lipton,Jeffrey M. Verboon,Katherine R. Chao,Leif S. Ludwig,Lydie Da Costa,Marie-Fran？oise O’Donohue,Michael H. Guo,Michal Matysiak,Monkol Lek,Namrata Gupta,Nathalie Montel-Lehry,Nour J. Abdulhay,Peter E. Newburger,Pierre-Emmanuel Gleizes,Robert E. Handsaker,Ron Do,Shideh Kazerounian,Stacey B. Gabriel,Steven A. McCarroll,Vijay G. Sankaran

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Aline Kolmer,Alison M. Muir,Andrea M. Lewis,Angélique Pichot,Anne Molitor,Anne-Marie Guerrot,Antoine Hanauer,Aurore Garde,Aurore Morlon,Bertrand Isidor,Bruno Kieffer,Carlos A. Bacino,Caroline Schluth-Bolard,Christel Thauvin-Robinet,Christina Y. Hung,Christopher T. Gordon,Clémantine Dimartino,David H. Viskochil,David Hunt,Deciphering Developmental Disorders Study,Ekaterina L. Ivanova,Eva Erdmann,Fabien Dutreux,Frédéric Tran Mau-Them,Gregory M. Cooper,Géraldine Joly-Helas,Heather C. Mefford,Heather P. Crawford,Ingrid M. Wentzensen,Jamel Chelly,Jeanne Amiel,Jocelyn Céraline,Kirsty McWalter,Laurence Faivre,Linyan Meng,Lydie Naegely,Magalie S. Leduc,Marlène Rio,Mary K. Kukolich,Maya Chopra,Meredith Phillips,Mira Kharbanda,Nicodème Paul,Nina Gold,Nolwenn Jean-Mar？ais,No？l Mensah-Bonsu,Olaf Bodamer,Pinar Bayrak-Toydemir,Rafal Ploski,Raphael Carapito,Rhonda E. Schnur,Robert Smigiel,Sarah L. Dugan,Seema R. Lalani,Susan M. Hiatt,Tatiana Tvrdik,University of Washington Center for Mendelian Genomics,Victoria Harrison,Xia Wang,Zijie Sun

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Alan E. Schlesinger,Alison A. Bertuch,Amaka C. Offiah,Andrew P. Jackson,Arthur L. Beaudet,Ashley McFarquhar,Asim Ali,Audrey E. Christiansen,Carlos A. Bacino,Celine Huber,Christine M. Eng,Colleen M. Carlston,Daniel H. Cohn,David A. Parry,David Chitayat,Dawn Earl,Deborah Krakow,Denise G. Lanza,Donna Muzny,Débora Bertola,Emmanuelle Ranza,Grant S. Stewart,Guilherme L. Yamamoto,Harsha Doddapaneni,Ivan K. Chinn,Jason D. Heaney,Jennifer B. Phillips,Jeremy Wegner,Jill A. Rosenfeld,John C. Carey,John J. Reynolds,John Postlethwait,John R. Seavitt,Jordan S. Orange,Lefkothea Karaviti,Lindsay C. Burrage,Lisa Emrick,Mahim Jain,Martin R. Higgs,Mary E. Dickinson,Mehdi Adeli,Melissa Lees,Merlin G. Butler,Michael Bamshad,Monte Westerfield,Nissan Vida Baratang,Philippe M. Campeau,Ravi Savarirayan,Richard A. Gibbs,Rong Mao,Shalini N. Jhangiani,Undiagnosed Diseases Network,University of Washington Center for Mendelian Genomics,Valérie Cormier-Daire,Vandana Raman,Wagner A.R. Baratela,Wei Shen,Weimin Bi,Xiaohui Li

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome

Alexander P. Drew,Amber Begtrup,Andre E. Minoche,Angeles Schteinschnaider,Ann Bye,Antonio Vitobello,Christel Thauvin,Clare Puttick,Edwin P. Kirk,Elizabeth E. Palmer,Fajr A. Aleisa,Fatema Al Zahrani,Fowzan S. Alkuraya,Heba M. Jalal Ahmed,Jasmeen Merzaban,Jill A. Rosenfeld,Kristin Lindstrom,Laurence Faivre,Lindsay B. Henderson,Mais O. Hashem,Marcel Dinger,Maria J. Guillen Sacoto,Marilyn C. Jones,Marisa V. Andrews,Mariusz Jaremko,Mark J. Cowley,Marwan Shinawi,Mar？á Mercedes Villanueva,Megan T. Cho,Molly Snyder,Muddathir Hamad,Rani K. Sachdev,Rebecca Macintosh,Rui Xiao,Ruth E. Bristol,Saima Kayani,Seungbeom Hong,Suliat F. Yakubu,Tejaswi Kandula,Tony Roscioli,Velimir Gayevskiy,？ukasz Jaremko

Integrating Genomics into Healthcare: A Global Responsibility

Brad Ozenberger,David Glazer,Ewan Birney,Jeffrey Braithwaite,Julia Wilson,Lena Dolman,Mark J. Caulfied,Mark Lawler,Peter Goodhand,Sue L. Hill,Teri A. Manolio,Tiffany Boughtwood,Yves Levy,Zornitza Stark

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Alfonso Caro-Llopis,Alice Maurel,Alice S. Brooks,Anne Turner,Brendan H. Lee,Carmen Orellana,Cheng Yee Nixon,Desai Sonal,Elise Fiala,Floris C. Hofstede,Francisco Martínez,Heather McLaughlin,Ian D. Krantz,Jennifer A. Sullivan,Jennifer M. Tarpinian,Jessica Sebastian,Jill A. Rosenfeld,Julien Thevenon,Justine Rousseau,Katherine Lachlan,Keren Machol,Koen L.I. van Gassen,Laurence Faivre,Marcia Willing,Marjon A. van Slegtenhorst,Megan T. Cho,Michael F. Buckley,Monica Rosello Piera,Naidu Sakkubai,Nicholas Stong,Peter M. van Hasselt,Rebecca C. Spillmann,Rolph Pfundt,Sandra Monfort,Slavé Petrovski,Sophie Ehresmann,Suneeta Madan-Khetarpal,Thi Tuyet Mai Nguyen,Thomas Garcia,Tjitske Kleefstra,Tony Roscioli,Undiagnosed Diseases Network,Vandana Shashi,Wendy D. Jones,Yong-hui Jiang

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

Aminata Touré,Amir Amiri-Yekta,Antoine Saut,Béatrice Conne,Charles Coutton,Christophe Arnoult,Emmanuel Dulioust,Feng Zhang,Guillaume Martinez,Habib Latrous,Hamid Gourabi,Jessica Escoffier,Karin Pernet-Gallay,Lazhar Halouani,Magalie Boguenet,Mahmoud Kharouf,Marie Bidart,Marie Cristou-Kent,Mounir Makni,Mélanie Bonhivers,Nathalie Rives,Nicolas Thierry-Mieg,Ouafi Marrakchi,Raoudha Zouari,Selima Fourati Ben Mustapha,Serge Nef,Seyedeh Hanieh Hosseini,Sylviane Hennebicq,Véronique Satre,Xiaojin He,Yunxia Cao,Zine-Eddine Kherraf

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

Agnieszka Bierzynska,Alain Schmitt,Alexandre Benmerah,Ania Koziell,Gavin I. Welsh,Guillaume Dorval,Géraldine Mollet,Moin A. Saleem,Olivia Boyer,Olivier Gribouval,Shuman Haq,Stéphanie Miserey-Lenkei,Valeryia Kuzmuk

Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals

Anurag Verma,David J. Carey,Jason E. Miller,Lisa Bang,Marta Byrska-Bishop,Marylyn D. Ritchie,Ming Ta Michael Lee,Sarah A. Pendergrass,Yanfei Zhang,Yu Zhang,the DiscovEHR Collaboration

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

Bodo B. Beck,Daniela A. Braun,David Schapiro,Eugen Widmeier,Friederike K？rber,Heon Yung Gee,Jan Halbritter,John Hoon Rim,Markus Schueler,Richard P. Lifton,Shirlee Shril,Sidharth K. Sethi,Sumeda Nandadasa,Suneel S. Apte,Won-il Choi,Yo Jun Choi

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

A. Heather Eliassen,ABCTB Investigators,Aaron Norman,Adam Brentnall,Alexander Hein,Alfons Meindl,Alice S. Whittemore,Alicja Wolk,Alison M. Dunning,Andreas Schneeweiss,Andrew Lee,Angela Brooks-Wilson,Angela Cox,Anna González-Neira,Anna Jakubowska,Anna Marie Mulligan,Anne Grundy,Anne-Lise B？rresen-Dale,Annika Lindblom,Anthony Howell,Anthony J. Swerdlow,Antoinette Hollestelle,Antonis C. Antoniou,Argyrios Ziogas,Arif B. Ekici,Arja Jukkola-Vuorinen,Arto Mannermaa,Asta F？rsti,Atocha Romero,Audrey Jung,Barbara Burwinkel,Bernardo Bonanni,Brian D. Carter,Brigitte Rack,B？rge G. Nordestgaard,Camilla Wendt,Carl Blomqvist,Carolina Ellberg,Caroline Seynaeve,Catriona McLean,Celine M. Vachon,Christa Stegmaier,Christine L. Clarke,Christof Sohn,Christoph Engel,Christopher A. Haiman,Christopher Scott,Claire Mulot,Clara Pérez-Barrios,Clarice R. Weinberg,D. Gareth Evans,Dale P. Sandler,Daniel F. Schmidt,Daniele Campa,Darya Prokofyeva,David E. Goldgar,David J. Hunter,Deborah J. Thompson,Diana M. Eccles,Diether Lambrechts,Dijana Plaseska-Karanfilska,Dimitrios Mavroudis,Douglas F. Easton,Drakoulis Yannoukakos,Elaine F. Harkness,Elinor J. Sawyer,Elke M. van Veen,Elza Khusnutdinova,Emilie Cordina-Duverger,Emmanouil Saloustros,Enes Makalic,Eric C. Polley,Eric Hahnen,Esther M. John,Eunjung Lee,Fergus J. Couch,Fernando Moreno,Flavio Lejbkowicz,Fredrick Schumacher,Gad Rennert,Georgia Chenevix-Trench,Gord Glendon,Graham G. Giles,Grethe I. Grenaker Aln？s,Guanmengqian Huang,Hans Christiansen,Hans Wildiers

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Amy L. McGuire,Casie A. Genetti,Heidi L. Rehm,Ingrid A. Holm,Jaclyn B. Murry,Kalotina Machini,Matthew S. Lebo,Ozge Ceyhan-Birsoy,Pankaj B. Agrawal,Richard B. Parad,Robert C. Green,Shawn Fayer,Talia S. Schwartz,The BabySeq Project Team,Timothy W. Yu

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Azita Sadeghpour,Hannah Reynolds,Kamal Khan,Marie T. McDonald,Nicholas Katsanis,Shahid M. Baig,Tahir N. Khan,Task Force for Neonatal Genomics,William B. Gallentine,Yezmin Perilla

Leveraging Polygenic Functional Enrichment to Improve GWAS Power

Armin Schoech,Bogdan Pasaniuc,Gaurav Bhatia,Gleb Kichaev,Kathryn Burch,Malika K. Freund,Po-Ru Loh,Steven Gazal

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Alma Kuechler,Barak Tziperman,Bert B.A. de Vries,Cacha M.P.C.D. Peeters-Scholte,Carlo Marcelis,Carlos R. Ferreira,Christopher T. Gordon,Dagmar Wieczorek,Dorien Haesen,Elise Brimble,Ellen Macnamara,Ernie M.H.F. Bongers,Heather Mclaughlin,Hilde M.H. Braakman,Jeanne Amiel,Jessica Scott Schwoerer,Jolanda H. Schieving,Koen L. van Gassen,Marjolein Kriek,Marlène Rio,Matias Wagner,Maura R.Z. Ruzhnikov,Nicole Revencu,Nienke Verbeek,Ortal Barel,Paulien A. Terhal,Philip Harrer,Roger Ladda,Saleem Malik,Sandra Jansen,Sara Reynhout,Siska van Belle,Sonja A. de Munnik,Sonja Henry,Susan Sell,Veerle Janssens

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Aamir Nazir,Alkistis Manousopoulou,Constantin J. Pournaras,Emilie Falconnet,Emmanuelle Ranza,Federico A. Santoni,Graeme CM. Black,Hugo J. Bellen,Hyung-lok Chung,Inayat Shah,Jawad Ahmed,Khitab Gul,Maqsood A. Ansari,Michel Guipponi,Muhammad Ansar,Muhammad T. Sarwar,Periklis Makrythanasis,Rachel L. Taylor,Samina Imtiaz,Sondas Saeed

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Alejandro D. Iglesias,Angela E. Scheuerle,Anik St-Denis,Denise L. Perry,Diane Masser-Frye,Fran？oise Le Deist,Jill A. Rosenfeld,Julie Jones,Justine Rousseau,Kristen M. Wigby,Marilyn C. Jones,Miles Thompson,Nissan V. Baratang,Ryan J. Taft,Stephanie C. Laniewski,Taroh Kinoshita,Thi Tuyet Mai Nguyen,Yoshiko Murakami

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Amal Alhashem,Colin G. Miles,David H. Steel,Elisa Molinari,Fowzan S. Alkuraya,George Cairns,Kathryn White,Louise A. Stephen,Noel Edwards,Nour Ewida,Ranad Shaheen,Sarah J. Rice,Shalabh Srivastava,Shehab Ismail,Simon A. Ramsbottom,Sumaya Alkanderi,Veronica Sammut,Yasmin Elmaghloob

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

Alejandro Garanto,Carel B. Hoyng,Jana Zernant,Mubeen Khan,Nathalie M. Bax,Rando Allikmets,Riccardo Sangermano,Rob W.J. Collin,Silvia Albert,Winston Lee

Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial

Barbara B. Biesecker,Ilana M. Miller,Jennifer J. Johnston,Katie L. Lewis,Kendall L. Umstead,Kristen P. Fishler,Lydia J. Thompson

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

Alice Basinger,Andreas van Baalen,Audrey Burnett,Austin Larson,Bj？rn Br？ndl,Cansu Kücükk？se,Carolyn F. Delto,Deepali N. Shinde,Dirk Mossmann,F.-Nora V？gtle,Franz-Josef Müller,Hiltrud Muhle,Hung-Chun Yu,Johan L.K. Van Hove,Johanna A. J？hn,Katherine L. Helbig,Lisa Myketin,Maie Walsh,Manuela Pendziwiat,Marisa W. Friederich,Mark A. Lovell,Naomichi Matsumoto,Nils Burger,Noriko Miyake,Oliver Keminer,Susan M. White,Ulrich Stephani

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse

Abbas Daneshipour,Aminata Touré,Amir Amiri-Yekta,Antoine Saut,Christophe Arnoult,Emmanuel Dulioust,Frederick N. Dong,Guillaume Martinez,Haiqing Zhao,Hamid Gourabi,Julie Tek,Laurence Stouvenel,Mélanie Bonhivers,Nicolas Thierry-Mieg,Patrick Lorès,Pierre F. Ray,Seyedeh Hanieh Hosseini,Sophie Brouillet,Thomas Karaouzène,Véronique Satre

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Agnes R？tig,Aleksandra Filipovska,Alison G. Compton,Benedetta Ruzzenente,Bryn D. Webb,Coralie Zangarelli,David A. Stroud,Elizabeth M. McCormick,Eric E. Schadt,Hayley S. Mountford,Ingrid Cristian,James Byrnes,John Christodoulou,Juliette Pulman,Katrina Haude,Kyle Retterer,Marlene Rio,Marni J. Falk,Metodi D. Metodiev,Mingma D. Sherpa,Nathalie Boddaert,Nicole J. Lake,Renkui Bai,Sander M. Houten,Sarah E. Calvo,Tara R. Richman,Vamsi K. Mootha,Zahra Assouline,Zarazuela Zolkipli-Cunningham,Zhancheng Zhang

Identification of Misclassified ClinVar Variants via Disease Population Prevalence

C. Thomas Caskey,Hung-Chun Yu,J. Craig Venter,Naisha Shah,Rachana Sainger,Ying-Chen Claire Hou

A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression

Anubhuti Mathur,Asli Uyar,Brooke N. Wolford,Christian Fuchsberger,Duygu Ucar,Francis S. Collins,Ina Kycia,Jeroen R. Huyghe,Johanna Kuusisto,Karen L. Mohlke,Markku Laakso,Michael Boehnke,Mohan Bolisetty,Nathan Lawlor,Ricardo d’Oliveira Albanus,Romy Kursawe,Ryan P. Welch,Shubham Khetan,Stephen C.J. Parker,Swarooparani Vadlamudi

Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility

Biaobang Chen,Bin Li,Jian Mu,Li Jin,Lin He,Ling Wu,Qiaoli Li,Qifeng Lyu,Qing Sang,Xiaoyan Mao,Xueqian Wang,Yanping Kuang,Yao Xu,Yonglun Fu,Zheng Yan,Zhihua Zhang

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Aida Lemes,Benoit Coulombe,Bernhard Weschke,Cas Simons,Desiree E.C. Smith,Diane Forget,Gajja S. Salomons,Hanna Mierzewska,Iris Marquardt,Isabelle Thiffault,Kether Guerrero,Laurence Gauquelin,Luan T. Tran,Mariana Gutierrez Salazar,Marie-Soleil Gauthier,Marisa I. Mendes,Marjo S. van der Knaap,Nicole I. Wolf,Quinten Waisfisz,Wolfgang Koehler