A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

Ana Isabel Espirito-Santo,Andre Franke,David Izadi,Dipti Thakkar,Eleftheria Zeggini,Hans Christian Hennies,Jagdeep Nanchahal,Kerstin Becker,Lorraine Southam,Michael Ng,Michael Nothnagel,Paul Werker,Peter Nürnberg,Roel Ophoff

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

Gerrit Vriend,Han G. Brunner,Hanka Venselaar,Joris A. Veltman,Laurens Wiel,Lisenka E.L.M. Vissers,Rolph Pfundt,Stefan H. Lelieveld

A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility

Han Zhao,Hongbin Liu,Keliang Wu,Lei Yan,Mei Li,Shigang Zhao,Tailai Chen,Xiaoman Liu,Yuehong Bian,Zi-Jiang Chen

From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health

Jesse D. Riordan

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

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

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

Andrea Gropman,Brett Graham,Campbell K. Brasington,Cinthya J. Zepeda-Mendoza,David J. Harris,Debra Rita,Diane Masser-Frye,Edward J. Spence,Erica Spiegel,Fowzan S. Alkuraya,Jennifer J. MacKenzie,Jonas Ibn-Salem,Karen W. Gripp,Lynne M. Bird,Michael E. Talkowski,Miguel A. Andrade-Navarro,Peter N. Robinson,Ranad Shaheen,Rebecca L. Sparkes,Tammy Kammin,Zehra Ordulu

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 Bodaert,Nicole J. Lake,Renkui Bai,Sander M. Houten,Sarah E. Calvo,Tara R. Richman,Vamsi K. Mootha,Zahra Assouline,Zarazuela Zolkipli-Cunningham,Zhancheng Zhang

Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage

Adrian P. Wiegmans,Amanda L. Bain,Andreas M？ller,Ann-Marie Patch,Brian S. Gloss,Bryan Day,Eloise Dray,Fares Al-Ejeh,Haran Sivakumaran,Joanna Crawford,John Pearson,Joshua A. Betts,Kristine M. Hillman,Kum Kum Khanna,Mahdi Moradi Marjaneh,Marcel E. Dinger,Melissa A. Brown,Michael B. Clark,Nenad Bartonicek,Nicola Waddell,Nicole Cloonan,Romain Tropée,Shivangi Wani,Shu W. Wen,Stacey L. Edwards,Stephen Kazakoff,Susanne Kaufmann,Timothy R. Mercer,Wei Shi,Yi Chieh Lim

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

Amber Begtrup,Asuri Narayan Prasad,Avraham Shaag,Berivan Baskin,Boris Keren,Caroline Nava,Chitra Prasad,Claudia M. Nicolae,Cyril Mignot,George-Lucian Moldovan,Katelyn Payne,Laurie Sadler,Pankaj B. Agrawal,Simon Edvardson,Thomas E. Mullen,Z？e Powis

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Alain Verloes,Alan Donaldson,Alexandre Dionne Laporte,Amy Schneider,Andrew E. Fry,Ange-Line Bruel,Anna Lehman,Anne Lortie,Berge A. Minassian,Boris Keren,Brigid M. Regan,Bronwyn Kerr,Bruno Dallapiccola,Candace T. Myers,Carlos A. Bacino,Caroline Meloche,Caroline Nava,Christina Nassif,Christine Massicotte,Cory Tam,Cyril Mignot,Cyrus Boelman,Dan Spiegelman,Danielle M. Andrade,Dara V.F. Albert,David R. FitzPatrick,Dean Jones,Deciphering Developmental Disorders Study,Edward Blair,Elsa Rossignol,Emilie Riou,Emily Fassi,Erica H. Gerkes,Erik-Jan Kamsteeg,Fadi F. Hamdan,Fernando Scaglia,Fran？ois Dubeau,Frederic T. Mau-Them,Gabriela Purcarin,Georgie Hollingsworth,Guillaume Bourque,Guy A. Rouleau,Guy D’Anjou,Heather C. Mefford,Helen Brittain,Imad T. Jarjour,Ingrid E. Scheffer,James J. O’Byrne,Jane A. Hurst,Jean Monlong,Jill A. Rosenfeld,Joss Shelagh,Katrin ？unap,Kelly Mo,Klaas J. Wierenga,Kyle Retterer,Laura Davis-Keppen,Ledia Brunga,Lionel Carmant,Lubov Blumkin,Lynette G. Sadleir,Marco Tartaglia,Marguerite Miguet,Marie-Christine Nougues,Martina Bebin,Maxime Cadieux-Dion,Megan T. Cho,Moira Blyth,Monica H. Wojcik,Myriam Srour,Natalie Canham,Nicole Corsten-Janssen,Ousmane Diallo,Paola Diadori,Patrick Cossette,Paul J. Benke,Peyman Bizargity,Philippe Lemay,Philippe M. Campeau,Philippe Major,Quinn Stein,Renee-Myriam Boucher,Rhys H. Thomas,Richard E. Frye,Robert Roger Lebel,Ronald G. Lafrenière,Saadet Mercimek-Mahmutoglu,Samuel F. Berkovic,Sara J. Dorison,Seema R. Lalani,Shekeeb S. Mohammad

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes

Barry Hicks,Boyko Kakaradov,C. Thomas Caskey,Christoph Lippert,Claire Hou,David Heckerman,Ernesto Guzman,Ewen F. Kirkness,Franz J. Och,Haibao Tang,J. Craig Venter,Martin Fabani,Smriti Ramakrishnan,Victor Lavrenko,William H. Biggs

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Adela Arapovic,Adele Mitrotti,Ali G. Gharavi,Anna Latos-Bielenska,Anna-Materna Kiryluk,Cathy Lee Mendelsohn,Christopher E. Gillies,Claudia Izzi,David A. Fasel,David B. Goldstein,Edgar A. Otto,Francesco Scolari,Friedhelm Hildebrandt,Gabriel S. Makar,Gian Marco Ghiggeri,Gianluigi Ardissino,Hila Milo Rasouly,Igor Pediaditakis,Iuliana Ionita-Laza,Jeremiah Martino,Joanna A.E. van Wijk,Kamal Khan,Katarina Vukojevic,Krzysztof Kiryluk,Landino Allegri,Loreto Gesualdo,Lorraine Fievet,Maddalena Gigante,Magdalena Janezcko,Marcin Zaniew,Marijan Saraga,Matthew G. Sampson,Miguel Verbitsky,Monica Bodria,Nicholas Katsanis,Priya Krithivasan,Qingxue Liu,Richard P. Lifton,Rik Westland,Shirlee Shril,Shrikant Mane,Simone Sanna-Cherchi,Sitharthan Kamalakaran,Valentina P. Capone,Velibor Tasic,Vinicio Goj,Virginia Vega-Warner,Young-Ji Na

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Andrea Bartuli,Andrea Ciolfi,Andrea Superti-Furga,Ariana Kariminejad,Baylor-Hopkins Center for Mendelian Genomics,Brendan H. Lee,Carlo L. Marcelis,Carlos Bacino,Chae Syng Lee,Choel Kim,Dan H. Cohn,Deborah Krakow,Dieter P. Reinhardt,Dorien Lugtenberg,Débora Bertola,Ekkehart Lausch,Guilherme Yamamoto,He Fu,Heena Kumra,James T. Lu,Jillian Parboosingh,Julie Hoover-Fong,Justine Rousseau,Marcello Niceta,Marco Tartaglia,Mariana I. Aracena,Marie T. McDonald,Nara Sobreira,Nissan Baratang,Patrick Yap,Richard Pauli,Sheila Unger,V. Reid Sutton

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Alison Kraus,Bert B.A. de Vries,DDD Study,Dan Doherty,Gunnar Houge,Gyri Aasland Gradek,Han G. Brunner,Hanka Venselaar,Ideke J.C. Lamers,Ineke van der Burgt,Jieun Seo,Jong-Hee Chae,Margot R.F. Reijnders,Murim Choi,Rolph Pfundt,Sandra Jansen,Simone Dusseljee,Stef J.F. Letteboer,Sylvia E.C. van Beersum,Tjitske Kleefstra

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Alexander Hoischen,Anna C. Need,Barbara Burton,Christine M. Shuss,Constance T.R.M. Stumpel,David B. Goldstein,Fanny Kortüm,Heather M. McLaughlin,Jane S. Bellet,Karin Oberndorff,Katherine Kim,Kelly Schoch,Loren D.M. Pena,Magdalena Walkiewicz,Maja Hempel,Malik Alawi,Martha Ann Keels,Maysantoine El-Dairi,Megan Butler,Megan Cho,Melanie J. Bonner,Michael S. Freemark,Mitja I. Kurki,Nicholas Stong,Olli Pietilainen,Outi Kuismin,Palotie Aarno,Peter G. Kranz,Rene Santer,Satu Korpi-Heikkil？,Scott E. Hickey,Slavé Petrovski,Sylvia Klinkenberg,Undiagnosed Diseases Network

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

Atsuko Nishikawa,Enkhsaikhan Purevjav,Eriko Koshimizu,Hirotomo Saitsu,Ichizo Nishino,Ikuya Nonaka,Jeffrey Towbin,Kana Yatabe,Katsuhisa Ogata,Kazuhiro Ogata,Masaaki Shiina,Mikiya Suzuki,Mitsuko Nakashima,Mitsuru Kawai,Noriko Miyake,Satoko Miyatake,Satomi Mitsuhashi,Satoshi Kuru,Takeshi Mizuguchi,Yoshinori Tsurusaki,Yukiko K. Hayashi,Yuzo Tanaka

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

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

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Anja Matter,Claudius Werner,Eric G. Haarman,Erik A. Sistermans,Gerard Pals,Gerard W. Dougherty,Heike Olbrich,Heymut Omran,Inga M. H？ben,Isabella Aprea,Johannes M.A. Daniels,J？rg Gro？e-Onnebrink,Kaman Wu,Miriam Schmidts,Natalija Bogunovic,Niki T. Loges,Tamara Paff,Zeineb Bakey

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Alexandra J. McCarty,Camilo Toro,Coral G. Warr,Cynthia Tifft,David R. Adams,Elizabeth Burke,Fan Xia,Hsiao-Tuan Chao,Hugo J. Bellen,Jill A. Rosenfeld,John G. Pappas,Lynne Wolfe,Mariska Davids,Michael F. Wangler,Nicholas Stong,Shinya Yamamoto,Taylor Davis,Thomas C. Markello,Travis K. Johnson,Undiagnosed Diseases Network,William A. Gahl

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

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Apolline Imbard,Aurora Martinez,Beat Th？ny,Ben Pode-Shakked,Bruria Ben-Zeev,Corinne Gemperle-Britschgi,David Meili,Dina Marek-Yagel,Edward L. Huttlin,Ertan Mayatepek,Friedrich K. Trefz,Gali Heimer,Georg F. Hoffmann,Gerard Schwartz,Hartmut Engels,Holger Prokisch,Imen Dorboz,Irene Keller,J. Wade Harper,James C. Mullikin,Jean-Fran？ois Benoist,Joao A. Paulo,Kirsten Cremer,Limor Ziv-Strasser,May Christine V. Malicdan,Nan Shen,Nenad Blau,Riccardo Berutti,Rémy Bruggmann,Thierry Vilboux,Thomas Meissner,Thomas Meitinger,Thomas Opladen,Tim M. Strom,Tobias B. Haack,Virginia Guarani,William A. Gahl,Yair Anikster,Yuval Landau

2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy

2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

Aiqing He,Alena Stan？áková,Anne U. Jackson,Arthur Ko,Brian W. Parks,Calvin Pan,Charles Tilford,Chelsea K. Raulerson,Christian Fuchsberger,Francis S. Collins,Heather M. Stringham,Johanna Kuusisto,Karen L. Mohlke,Kerrin S. Small,Laura J. Scott,Markku Laakso,Mete Civelek,Michael Boehnke,Narisu Narisu,Niyas K. Saleem,Peter S. Chines,Peter S. Gargalovic,P？ivi Pajukanta,Todd Kirchgessner,Ying Wu

Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US

Aaron Scrol,Armand H. Matheny Antommaria,Carol R. Horowitz,Catherine A. McCarty,David Kaufman,David S. Carrell,Diego Campos,Ellen Wright Clayton,Evette J. Ludman,Gail P. Jarvik,Ingrid A. Holm,Janet L. Williams,Jennifer B. McCormick,John Connolly,Jonathan S. Schildcrout,Martha J. Shrubsole,Maureen E. Smith,Melanie F. Myers,Murray H. Brilliant,Nanibaa’ A. Garrison,Nathaniel D. Mercaldo,Pat Conway,Rongling Li,Saskia C. Sanderson,Sharon A. Aufox,Stephanie M. Fullerton,Terrie E. Kitchner,Valerie D. McManus

Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice

Afshan Siddiq,Anke Schulte,Anna L. Gloyn,Francois Pattou,Gaelle R. Carrat,Isabelle Leclerc,Jocelyn E. Manning Fox,Kyle J. Gaulton,Marie-Sophie Nguyen-Tu,Mario Falchi,Mark I. McCarthy,Mark Ibberson,Martijn van de Bunt,Matthew C. Cane,Matthias Thurner,Michele Solimena,Micka？l Canouil,Ming Hu,Patrick E. MacDonald,Pauline Chabosseau,Philippe Froguel,Piero Marchetti,Priyanka Prabhala,Timothy J. Pullen,William Greenwald

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Quan Li

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

Aaradhita Upadhyay,Alexander Hoischen,Anna Kaczmarek,Anne C. Hart,C. Frank Bennett,Cathleen Bradler,Christian Gilissen,Frank Rigo,Gudrun Nürnberg,Heiko L？hr,Irmgard H？lker,Kathryn J. Swoboda,Laura Torres-Benito,Lutz Garbes,Maria Dimitriadi,Markus Riessland,Matthias Hammerschmidt,Michael Walter,Min Jeong Kye,Miriam Peters,Nasim Biglari,Peter Kloppenburg,Peter Nürnberg,Sandra Kr？ber,Seyyedmohsen Hosseinibarkooie,Svenja Schneider,Vanessa Grysko

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

Arti Nanda,Celine Pourreyron,Chao-Kai Hsu,Evan Reid,Hejab Al-Ajmi,Hsin-Yu Huang,Jakub Tolar,James R. McMillan,John Y.W. Lee,Julia Y.Y. Lee,Lina Basel-Vanagaite,Lu Liu,Maddy Parsons,Magdalene Michael,Masashi Akiyama,Michael A. Simpson,Rachel Straussberg,Saif Abu-Mouch,Sergiu C. Blumen,Takuya Takeichi,Thomas Hayday,Ting-Chien Lin,W.H. Irwin McLean,Yael Barhum,Yasmin Zouabi

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Alberto Gómez,Andrea Lehmann,Ankita Patel,Anne-Sophie Denommé-Pichon,Annick Toutain,Benjamin Cogné,Bo Yuan,Brigitte Gilbert-Dussardier,Carlos A. Bacino,Caroline Rooryck,Chad A. Shaw,Christelle Golzio,Deborah Barbouth,Dominique Bonneau,Elizabeth Roeder,Eric Bieth,Evan E. Eichler,Fan Xia,Frédéric Ebstein,Holly A.F. Stessman,Ignacio Brice？o,James B. Gibson,James R. Lupski,Janice L. Smith,Jessica Douglas,Jill A. Rosenfeld,Kamal Khan,Kimberly Glaser,Kimberly M. Nugent,Kristin G. Monaghan,Kyle Retterer,Laurence Perrin-Sabourin,Laurent Pasquier,Marie Vincent,Marie-Line Jacquemont,Mathilde Nizon,Mathilde Pacault,Megan T. Cho,Nicholas Katsanis,Pawe？ Stankiewicz,Peter-Michael Kloetzel,Philippe Parent,Richard Redon,Sandra Mercier,Stephan J. Sanders,Stephanie Sacharow,Stéphane Bézieau,Sylvain Simon,Sylvie Odent,Sébastien Küry,Sébastien Schmitt,Tahir N. Khan,Thomas Besnard,Tomasz Gambin,Valérie Malan,Wallid Deb,Weimin Bi,Xénia Latypova,Yaping Yang

Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences

Chris Tyler-Smith,Claude Doumet-Serhal,Elizabeth Matisoo-Smith,Holger Schutkowski,Javier Prado-Martinez,Marc Haber,Massimo Mezzavilla,Micha？ Szpak,Petr Danecek,Pierre Zalloua,Richard Mikulski,Rui Martiniano,Sonia Youhanna,Toomas Kivisild,Yali Xue

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Boris Keren,Caroline Nava,Daniel M. Evans,Deciphering Developmental Disorders Study,Delphine Héron,Epilepsy Genomics Study,Eric B. Toyota,Frances Elmslie,Ilaria Guella,Koen L.I. van Gassen,Margot I. Van Allen,Marleen E.H. Simon,Marna B. McKenzie,Mary B. Connolly,Michelle Demos,Mohnish Suri,Sarah E. Buerki

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

Anna Ardissone,Anna Elliott,Anna Zachariou,Chey Loveday,Childhood Overgrowth Collaboration,Elise Ruark,Emma Ramsay,Fiona Stewart,Harriet Wylie,I. Karen Temple,Katrina Tatton-Brown,Matthew Clarke,Olaf Rittinger,Shawn Yost,Shazia Mahamdallie,Sheila Seal,Trevor Cole

Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression

Anand Bhaskar,Audrey Q. Fu,David A. Knowles,David Golan,Jonathan K. Pritchard,Towfique Raj

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Alain Verloes,Andrei L. Turinsky,Blake Papsin,Brigitte Gilbert-Dussardier,Cheryl Cytrynbaum,Darci T. Butcher,Daria Grafodatskaya,David Chitayat,Frederic Bilan,Jeff M. Milunsky,Jerry Machado,Lucie Dupuis,Michael Brudno,Michal Inbar-Feigenberg,Michelle T. Siu,Oana Caluseriu,Raveen Basran,Roberto Mendoza-Londono,Sanaa Choufani,Stephen W. Scherer,Susan Walker,Tracy L. Stockley,William Reardon

A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression

Alessandra Chesi,Analise L. Gruenewald,Andrew D. Wells,Christopher D. Brown,Elisabetta Manduchi,Gerd A. Blobel,Marijan Posavi,Michael D. Gallagher,Peng Huang,Struan F.A. Grant,Travis L. Unger,Yosef Berlyand

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Addie I. Nesbitt,Ajoy Sarkar,Amber Begtrup,Andreas M. Grabrucker,Anne-Sophie Denommé-Pichon,Annick Toutain,Arie van Haeringen,Aurora Pujol,Avni B. Santani,Ben Distel,Benjamin Cogné,Bertrand Isidor,Brandon H. Kusako,Bregje W.M. van Bon,Brigitte Gilbert-Dussardier,Catherine A. Brownstein,Catherine B. Nowak,Christina Lam,Christèle Dubourg,Claudia A.L. Ruivenkamp,Damien Sanlaville,Deciphering Developmental Disorders Study,Delphine Quinquis,Diana S. Johnson,Dominique Bonneau,Dorothy K. Grange,Elizabeth A. Sellars,Elizabeth J. Bhoj,Elouan Cherot,Eric Charpentier,Evan E. Eichler,Fan Xia,GEM HUGO,Gabrielle Rudolf,Ga？tan Lesca,Geeske M. van Woerden,Geir J. Braathen,George E. Hoganson,Ghayda Mirzaa,Gijs W.E. Santen,Gregory M. Enns,Holly A.F. Stessman,Jamel Chelly,Jane Juusola,Jay Shendure,Jeff L. Waugh,Jennifer Burton,Jenny Thies,Jessica Douglas,Jill A. Rosenfeld,Jonathan A. Bernstein,Jonathan Berg,Julitta de Bellescize,Katherine B. Bosanko,Katherine L. Helbig,Katrin Hinderhofer,Kimberly Foss,Koen L.I. van Gassen,Kristian Tveten,Kyle Retterer,Laurent Pasquier,Laurie A. Robak,Lisenka E.L.M. Peart-Vissers,Marie Vincent,Marisa V. Andrews,Martin Granzow,Martina Proietti Onori,Mathilde Nizon,Matthew Deardorff,Matthew W. State,Megan T. Cho,Meghan C. Towne,Melissa A. Ploeg,Nagarajan Paramasivam,Nienke E. Verbeek,Pankaj B. Agrawal,Paulien A. Terhal,Philippe Parent,Pierre Boisseau,Pierre Lindenbaum,Richard Redon,Sandra Mercier,Sha Tang,Sharyn Lincoln,Sihoun Hahn,Slavé Petrovski,Stephan Sanders

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

Ales Maver,André B.P. van Kuilenburg,Araceli del Arco,Borut Peterlin,Christel Thauvin-Robinet,Jorgina Satrustegui,Laura Contreras,Laurence Faivre,Lidija Kova？i？,Marco Castori,Pablo Lapunzina,Paula Martinez-Valero,Raoul C. Hennekam,Slobodanka Radovi？

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Alexander P.A. Stegmann,Ana Claasen,Anya Revah-Politi,Benjamin Cogné,C4RCD Research Group,Christian Kubisch,Claudia Schob,Davor Lessel,Dominique Bonneau,Erica H. Gerkes,Estelle Colin,Han G. Brunner,James R. Lupski,Jennifer E. Posey,Jenny Morton,Jill A. Rosenfeld,Jolanda H. Schieving,Jonas Denecke,Katherine L. Helbig,Kelsey Zegar,Keri Ramsey,LaDonna Immken,Magalie Barth,Margot R.F. Reinders,Marine Tessarech,Matthew Huentelman,Mohammad K. Eldomery,Naomi Meeks,Nelly Oundjian,Orly Elpeleg,Sandra Mercier,Shimon Edvardson,Stefan Kindler,Stéphane Bézieau,Sébastien Küry,Tamar Harel,Thomas Besnard,Tim M. Strom,Tjitske Kleefstra,Vinodh Narayanan,Yaping Yang,Zeynep Coban-Akdemir,the DDD study

Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans

Bharath Ambale-Venkatesh,Colleen G. Julian,Fernando Racimo,Jacob E. Crawford,Jade Yu Cheng,Jerome I. Rotter,Jie Yao,Jihyun Song,Josef Stehlik,Josef T. Prchal,Jo？o A. Lima,Lorna G. Moore,Ricardo Amaru,Xiuqing Guo

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Alexandra Bateman,Anik St-Denis,Christine Diggle,Christopher J. Carroll,Christopher P. Bennett,Clare V. Logan,Colin A. Johnson,David A. Parry,Eamonn Sheridan,Elizabeth Berry-Kravis,Erika Ignatius,Fan Xia,Fran？oise Le Deist,Guoliang Chai,Jessica Tardif,Jill A. Rosenfeld,Joseph G. Gleeson,Justine Rousseau,Laura Fairbrother,Louise Hattingh,Maha S. Zaki,Michael J. Parker,Michael Scott Perry,Norbert F. Ajeawung,Pirjo Isohanni,Sophie Ehresmann,Taroh Kinoshita,Thi Tuyet Mai Nguyen,Tuula L？nnqvist,Tyler Reimschisel,Yoshiko Murakami

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

Andreea Nissenkorn,Annapurna Poduri,Arezoo Rezazadeh,Brigid M. Regan,Bruria Ben Zeev,Candace T. Myers,Daniel H. Lowenstein,Danielle M. Andrade,David B. Goldstein,Deepali N. Shinde,Emily I. Mountier,Erin L. Heinzen,Gali Heimer,Heather C. Mefford,Ingrid E. Scheffer,Joseph E. Sullivan,Karen L. Oliver,Katherine L. Helbig,Lynette G. Sadleir,Lynne M. Bird,Maureen S. Mulhern,Michal Tzadok,Michelle E. Ernst,Natalie C. Lippa,Nicholas Stong,Samuel F. Berkovic,Saskia Freytag,Zhong Ren

Prospects of Fine-Mapping Trait-Associated Genomic Regions by Using Summary Statistics from Genome-wide Association Studies

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