Sébastien Küry

Affiliations
  • Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France.

Publications (54)

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

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

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

American journal of human genetics
Avec: Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard , Thomas Garcia , Slavé Petrovski , Shiri Avni , Kirsty McWalter , Patrick R Blackburn , Stephan J Sanders , Kévin Uguen , Jacqueline Harris , Julie S Cohen , Moira Blyth , Anna Lehman , Jonathan Berg , Mindy H Li , Usha Kini , Shelagh Joss , Charlotte von der Lippe , Christopher T Gordon , Jennifer B Humberson , Laurie Robak , Daryl A Scott , Vernon R Sutton , Cara M Skraban , Jennifer J Johnston , Annapurna Poduri , Magnus Nordenskjöld , Vandana Shashi , Erica H Gerkes , Ernie M H F Bongers , Christian Gilissen , Yuri A Zarate , Malin Kvarnung , Kevin P Lally , Peggy A Kulch , Brina Daniels , Andres Hernandez-Garcia , Nicholas Stong , Julie McGaughran , Kyle Retterer , Kristian Tveten , Jennifer Sullivan , Madeleine R Geisheker , Asbjorg Stray-Pedersen , Jennifer M Tarpinian , Eric W Klee , Julie C Sapp , Jacob Zyskind , Øystein L Holla , Emma Bedoukian , Francesca Filippini , Anne Guimier , Arnaud Picard , Øyvind L Busk , Jaya Punetha , Rolph Pfundt , Anna Lindstrand , Ann Nordgren , Fayth Kalb , Megha Desai , Ashley Harmon Ebanks , Shalini N Jhangiani , Tammie Dewan , Zeynep H Coban Akdemir , Aida Telegrafi , Elaine H Zackai , Amber Begtrup , Xiaofei Song , Annick Toutain , Ingrid M Wentzensen , Sylvie Odent , Dominique Bonneau , Xénia Latypova , Wallid Deb , Auteur inconnu , Sylvia Redon , Frédéric Bilan , Marine Legendre , Caitlin Troyer , Kerri Whitlock , Oana Caluseriu , Marine I Murphree , Pavel N Pichurin , Katherine Agre , Ralitza Gavrilova , Tuula Rinne , Meredith Park , Catherine Shain , Erin L Heinzen , Rui Xiao , Jeanne Amiel , Stanislas Lyonnet , Bertrand Isidor , Leslie G Biesecker , Dan Lowenstein , Jennifer E Posey , Anne-Sophie Denommé-Pichon , Auteur inconnu , Claude Férec , Xiang-Jiao Yang , Jill A Rosenfeld , Brigitte Gilbert-Dussardier , Séverine Audebert-Bellanger , Richard Redon , Holly A F Stessman , Christoffer Nellaker , Yaping Yang , James R Lupski , David B Goldstein , Evan E Eichler , Francois Bolduc , Stéphane Bézieau , Sébastien Küry , Philippe M Campeau

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Thomas Besnard , Natacha Sloboda , Alice Goldenberg , Sébastien Küry , Benjamin Cogné , Flora Breheret , Eva Trochu , Solène Conrad , Marie Vincent , Wallid Deb , Xavier Balguerie , Sébastien Barbarot , Geneviève Baujat , Tawfeg Ben-Omran , Anne-Claire Bursztejn , Virginie Carmignac , Alexandre N Datta , Aline Delignières , Laurence Faivre , Betty Gardie , Jean-Louis Guéant , Paul Kuentz , Marion Lenglet , Marie-Cécile Nassogne , Vincent Ramaekers , Rhonda E Schnur , Yue Si , Erin Torti , Julien Thevenon , Pierre Vabres , Lionel Van Maldergem , Dorothea Wand , Arnaud Wiedemann , Bertrand Cariou , Richard Redon , Antonin Lamazière , Stéphane Bézieau , Francois Feillet , Bertrand Isidor

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

Journal of the National Cancer Institute
Avec: Stephanie L Schmit , Christopher K Edlund , Fredrick R Schumacher , Jian Gong , Tabitha A Harrison , Jeroen R Huyghe , Chenxu Qu , Marilena Melas , David J Van Den Berg , Hansong Wang , Stephanie Tring , Sarah J Plummer , Demetrius Albanes , M Henar Alonso , Christopher I Amos , Kristen Anton , Aaron K Aragaki , Volker Arndt , Elizabeth L Barry , Sonja I Berndt , Stéphane Bezieau , Stephanie Bien , Amanda Bloomer , Juergen Boehm , Marie-Christine Boutron-Ruault , Hermann Brenner , Stefanie Brezina , Daniel D Buchanan , Katja Butterbach , Bette J Caan , Peter T Campbell , Christopher S Carlson , Jose E Castelao , Andrew T Chan , Jenny Chang-Claude , Stephen J Chanock , Iona Cheng , Ya-Wen Cheng , Lee Soo Chin , James M Church , Timothy Church , Gerhard A Coetzee , Michelle Cotterchio , Marcia Cruz Correa , Keith R Curtis , David Duggan , Douglas F Easton , Dallas English , Edith J M Feskens , Rocky Fischer , Liesel M FitzGerald , Barbara K Fortini , Lars G Fritsche , Charles S Fuchs , Manuela Gago-Dominguez , Manish Gala , Steven J Gallinger , W James Gauderman , Graham G Giles , Edward L Giovannucci , Stephanie M Gogarten , Clicerio Gonzalez-Villalpando , Elena M Gonzalez-Villalpando , William M Grady , Joel K Greenson , Andrea Gsur , Marc Gunter , Christopher A Haiman , Jochen Hampe , Sophia Harlid , John F Harju , Richard B Hayes , Philipp Hofer , Michael Hoffmeister , John L Hopper , Shu-Chen Huang , Jose Maria Huerta , Thomas J Hudson , David J Hunter , Gregory E Idos , Motoki Iwasaki , Rebecca D Jackson , Eric J Jacobs , Sun Ha Jee , Mark A Jenkins , Wei-Hua Jia , Shuo Jiao , Amit D Joshi , Laurence N Kolonel , Suminori Kono , Charles Kooperberg , Vittorio Krogh , Tilman Kuehn , Sébastien Küry , Andrea LaCroix , Cecelia A Laurie , Flavio Lejbkowicz , Mathieu Lemire , Heinz-Josef Lenz , David Levine , Christopher I Li , Li Li , Wolfgang Lieb , Yi Lin , Noralane M Lindor , Yun-Ru Liu , Fotios Loupakis , Yingchang Lu , Frank Luh , Jing Ma , Christoph Mancao , Frank J Manion , Sanford D Markowitz , Vicente Martin , Koichi Matsuda , Keitaro Matsuo , Kevin J McDonnell , Caroline E McNeil , Roger Milne , Antonio J Molina , Bhramar Mukherjee , Neil Murphy , Polly A Newcomb , Kenneth Offit , Hanane Omichessan , Domenico Palli , Jesus P Paredes Cotoré , Julyann Pérez-Mayoral , Paul D Pharoah , John D Potter , Conghui Qu , Leon Raskin , Gad Rennert , Hedy S Rennert , Bridget M Riggs , Clemens Schafmayer , Robert E Schoen , Thomas A Sellers , Daniela Seminara , Gianluca Severi , Wei Shi , David Shibata , Xiao-Ou Shu , Erin M Siegel , Martha L Slattery , Melissa Southey , Zsofia K Stadler , Mariana C Stern , Sebastian Stintzing , Darin Taverna , Stephen N Thibodeau , Duncan C Thomas , Antonia Trichopoulou , Shoichiro Tsugane , Cornelia M Ulrich , Franzel J B van Duijnhoven , Bethany van Guelpan , Joseph Vijai , Jarmo Virtamo , Stephanie J Weinstein , Emily White , Aung Ko Win , Alicja Wolk , Michael Woods , Anna H Wu , Kana Wu , Yong-Bing Xiang , Yun Yen , Brent W Zanke , Yi-Xin Zeng , Ben Zhang , Niha Zubair , Sun-Seog Kweon , Jane C Figueiredo , Wei Zheng , Loic Le Marchand , Annika Lindblom , Victor Moreno , Ulrike Peters , Graham Casey , Li Hsu , David V Conti , Stephen B Gruber

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

American journal of human genetics
Avec: Dongxue Mao , Chloe M Reuter , Maura R Z Ruzhnikov , Anita E Beck , Emily G Farrow , Lisa T Emrick , Jill A Rosenfeld , Katherine M Mackenzie , Laurie Robak , Matthew T Wheeler , Lindsay C Burrage , Mahim Jain , Pengfei Liu , Daniel Calame , Sébastien Küry , Martin Sillesen , Klaus Schmitz-Abe , Davide Tonduti , Luigina Spaccini , Maria Iascone , Casie A Genetti , Mary K Koenig , Madeline Graf , Alyssa Tran , Mercedes Alejandro , Auteur inconnu , Brendan H Lee , Isabelle Thiffault , Pankaj B Agrawal , Jonathan A Bernstein , Hugo J Bellen , Hsiao-Tuan Chao

Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer.

Gastroenterology
Avec: Alexi N Archambault , Yu-Ru Su , Jihyoun Jeon , Minta Thomas , Yi Lin , David V Conti , Aung Ko Win , Lori C Sakoda , Iris Lansdorp-Vogelaar , Elisabeth F P Peterse , Ann G Zauber , David Duggan , Andreana N Holowatyj , Jeroen R Huyghe , Hermann Brenner , Michelle Cotterchio , Stéphane Bézieau , Stephanie L Schmit , Christopher K Edlund , Melissa C Southey , Robert J MacInnis , Peter T Campbell , Jenny Chang-Claude , Martha L Slattery , Andrew T Chan , Amit D Joshi , Mingyang Song , Yin Cao , Michael O Woods , Emily White , Stephanie J Weinstein , Cornelia M Ulrich , Michael Hoffmeister , Stephanie A Bien , Tabitha A Harrison , Jochen Hampe , Christopher I Li , Clemens Schafmayer , Kenneth Offit , Paul D Pharoah , Victor Moreno , Annika Lindblom , Alicja Wolk , Anna H Wu , Li Li , Marc J Gunter , Andrea Gsur , Temitope O Keku , Rachel Pearlman , D Timothy Bishop , Sergi Castellví-Bel , Leticia Moreira , Pavel Vodicka , Ellen Kampman , Graham G Giles , Demetrius Albanes , John A Baron , Sonja I Berndt , Stefanie Brezina , Stephan Buch , Daniel D Buchanan , Antonia Trichopoulou , Gianluca Severi , María-Dolores Chirlaque , Maria-José Sánchez , Domenico Palli , Tilman Kühn , Neil Murphy , Amanda J Cross , Andrea N Burnett-Hartman , Stephen J Chanock , Albert de la Chapelle , Douglas F Easton , Faye Elliott , Dallas R English , Edith J M Feskens , Liesel M FitzGerald , Phyllis J Goodman , John L Hopper , Thomas J Hudson , David J Hunter , Eric J Jacobs , Corinne E Joshu , Sébastien Küry , Sanford D Markowitz , Roger L Milne , Elizabeth A Platz , Gad Rennert , Hedy S Rennert , Fredrick R Schumacher , Robert S Sandler , Daniela Seminara , Catherine M Tangen , Stephen N Thibodeau , Amanda E Toland , Franzel J B van Duijnhoven , Kala Visvanathan , Ludmila Vodickova , John D Potter , Satu Männistö , Korbinian Weigl , Jane Figueiredo , Vicente Martín , Susanna C Larsson , Patrick S Parfrey , Wen-Yi Huang , Heinz-Josef Lenz , Jose E Castelao , Manuela Gago-Dominguez , Victor Muñoz-Garzón , Christoph Mancao , Christopher A Haiman , Lynne R Wilkens , Erin Siegel , Elizabeth Barry , Ban Younghusband , Bethany Van Guelpen , Sophia Harlid , Anne Zeleniuch-Jacquotte , Peter S Liang , Mengmeng Du , Graham Casey , Noralane M Lindor , Loic Le Marchand , Steven J Gallinger , Mark A Jenkins , Polly A Newcomb , Stephen B Gruber , Robert E Schoen , Heather Hampel , Douglas A Corley , Li Hsu , Ulrike Peters , Richard B Hayes

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Hannah Stamberger , Trine B Hammer , Elena Gardella , Danique R M Vlaskamp , Birgitte Bertelsen , Simone Mandelstam , Iris de Lange , Jing Zhang , Candace T Myers , Christina Fenger , Zaid Afawi , Edith P Almanza Fuerte , Danielle M Andrade , Yunus Balcik , Bruria Ben Zeev , Mark F Bennett , Samuel F Berkovic , Bertrand Isidor , Arjan Bouman , Eva Brilstra , Øyvind L Busk , Anita Cairns , Roseline Caumes , Nicolas Chatron , Russell C Dale , Christa de Geus , Patrick Edery , Deepak Gill , Jacob Bie Granild-Jensen , Lauren Gunderson , Boudewijn Gunning , Gali Heimer , Johan R Helle , Michael S Hildebrand , Georgie Hollingsworth , Volodymyr Kharytonov , Eric W Klee , Bobby P C Koeleman , David A Koolen , Christian Korff , Sébastien Küry , Gaetan Lesca , Dorit Lev , Richard J Leventer , Mark T Mackay , Erica L Macke , Meriel McEntagart , Shekeeb S Mohammad , Pauline Monin , Martino Montomoli , Eva Morava , Sebastien Moutton , Alison M Muir , Elena Parrini , Peter Procopis , Emmanuelle Ranza , Laura Reed , Philipp S Reif , Felix Rosenow , Massimiliano Rossi , Lynette G Sadleir , Tara Sadoway , Helenius J Schelhaas , Amy L Schneider , Krati Shah , Ruth Shalev , Sanjay M Sisodiya , Thomas Smol , Connie T R M Stumpel , Kyra Stuurman , Joseph D Symonds , Frederic Tran Mau-Them , Nienke Verbeek , Judith S Verhoeven , Geoffrey Wallace , Keren Yosovich , Yuri A Zarate , Ayelet Zerem , Sameer M Zuberi , Renzo Guerrini , Heather C Mefford , Chirag Patel , Yue-Hua Zhang , Rikke S Møller , Ingrid E Scheffer

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

American journal of human genetics
Avec: Sébastien Küry , Frédéric Ebstein , Alice Mollé , Thomas Besnard , Ming-Kang Lee , Virginie Vignard , Tiphaine Hery , Mathilde Nizon , Grazia M S Mancini , Jacques C Giltay , Benjamin Cogné , Kirsty McWalter , Wallid Deb , Hagar Mor-Shaked , Hong Li , Rhonda E Schnur , Ingrid M Wentzensen , Anne-Sophie Denommé-Pichon , Cynthia Fourgeux , Frans W Verheijen , Eva Faurie , Rachel Schot , Cathy A Stevens , Daphne J Smits , Eileen Barr , Ruth Sheffer , Jonathan A Bernstein , Chandler L Stimach , Eliana Kovitch , Vandana Shashi , Kelly Schoch , Whitney Smith , Richard H van Jaarsveld , Anna C E Hurst , Kirstin Smith , Evan H Baugh , Suzanne G Bohm , Emílie Vyhnálková , Lukáš Ryba , Capucine Delnatte , Juanita Neira , Dominique Bonneau , Annick Toutain , Jill A Rosenfeld , Auteur inconnu , Séverine Audebert-Bellanger , Brigitte Gilbert-Dussardier , Sylvie Odent , Frédéric Laumonnier , Seth I Berger , Ann C M Smith , Franck Bourdeaut , Marc-Henri Stern , Richard Redon , Elke Krüger , Raphaël Margueron , Stéphane Bézieau , Jeremie Poschmann , Bertrand Isidor

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

Nature genetics
Avec: Tzung-Chien Hsieh , Aviram Bar-Haim , Shahida Moosa , Nadja Ehmke , Karen W Gripp , Jean Tori Pantel , Magdalena Danyel , Martin Atta Mensah , Denise Horn , Stanislav Rosnev , Nicole Fleischer , Guilherme Bonini , Alexander Hustinx , Alexander Schmid , Alexej Knaus , Behnam Javanmardi , Hannah Klinkhammer , Hellen Lesmann , Sugirthan Sivalingam , Tom Kamphans , Wolfgang Meiswinkel , Frédéric Ebstein , Elke Krüger , Sébastien Küry , Stéphane Bézieau , Axel Schmidt , Sophia Peters , Hartmut Engels , Elisabeth Mangold , Martina Kreiß , Kirsten Cremer , Claudia Perne , Regina C Betz , Tim Bender , Kathrin Grundmann-Hauser , Tobias B Haack , Matias Wagner , Theresa Brunet , Heidi Beate Bentzen , Luisa Averdunk , Kimberly Christine Coetzer , Gholson J Lyon , Malte Spielmann , Christian P Schaaf , Stefan Mundlos , Markus M Nöthen , Peter M Krawitz

GABRA1-Related Disorders: From Genetic to Functional Pathways.

Annals of neurology
Avec: Elisa Musto , Vivian W Y Liao , Katrine M Johannesen , Christina D Fenger , Damien Lederer , Kavitha Kothur , Katrina Fisk , Bruce Bennetts , Pascal Vrielynck , Delphine Delaby , Berten Ceulemans , Sarah Weckhuysen , Peter Sparber , Arjan Bouman , Simone Ardern-Holmes , Christopher Troedson , Domenica I Battaglia , Himanshu Goel , Timothy Feyma , Somayeh Bakhtiari , Linda Tjoa , Martin Boxill , Nina Demina , Olga Shchagina , Elena Dadali , Michael Kruer , Gaetano Cantalupo , Ilaria Contaldo , Tilman Polster , Bertrand Isidor , Stefania M Bova , Walid Fazeli , Leen Wouters , Maria J Miranda , Francesca Darra , Elisa Pede , Diana Le Duc , Rami Abou Jamra , Sébastien Küry , Jacopo Proietti , Niamh McSweeney , Elly Brokamp , Peter Ian Andrews , Marie Gouray Garcia , Mary Chebib , Rikke S Møller , Philip K Ahring , Elena Gardella

Role of CAMK2D in neurodevelopment and associated conditions.

American journal of human genetics
Avec: Pomme M F Rigter , Charlotte de Konink , Matthew J Dunn , Martina Proietti Onori , Jennifer B Humberson , Matthew Thomas , Caitlin Barnes , Carlos E Prada , K Nicole Weaver , Thomas D Ryan , Oana Caluseriu , Jennifer Conway , Emily Calamaro , Chin-To Fong , Wim Wuyts , Marije Meuwissen , Eva Hordijk , Carsten N Jonkers , Lucas Anderson , Berfin Yuseinova , Sarah Polonia , Diane Beysen , Zornitza Stark , Elena Savva , Cathryn Poulton , Fiona McKenzie , Elizabeth Bhoj , Caleb P Bupp , Stéphane Bézieau , Sandra Mercier , Amy Blevins , Ingrid M Wentzensen , Fan Xia , Jill A Rosenfeld , Tzung-Chien Hsieh , Peter M Krawitz , Miriam Elbracht , Danielle C M Veenma , Howard Schulman , Margaret M Stratton , Sébastien Küry , Geeske M van Woerden

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Biological psychiatry
Avec: Brett V Johnson , Raman Kumar , Sabrina Oishi , Suzy Alexander , Maria Kasherman , Michelle Sanchez Vega , Atma Ivancevic , Alison Gardner , Deepti Domingo , Mark Corbett , Euan Parnell , Sehyoun Yoon , Tracey Oh , Matthew Lines , Henrietta Lefroy , Usha Kini , Margot Van Allen , Sabine Grønborg , Sandra Mercier , Sébastien Küry , Stéphane Bézieau , Laurent Pasquier , Martine Raynaud , Alexandra Afenjar , Thierry Billette de Villemeur , Boris Keren , Julie Désir , Lionel Van Maldergem , Martina Marangoni , Nicola Dikow , David A Koolen , Peter M VanHasselt , Marjan Weiss , Petra Zwijnenburg , Joaquim Sa , Claudia Falcao Reis , Carlos López-Otín , Olaya Santiago-Fernández , Alberto Fernández-Jaén , Anita Rauch , Katharina Steindl , Pascal Joset , Amy Goldstein , Suneeta Madan-Khetarpal , Elena Infante , Elaine Zackai , Carey Mcdougall , Vinodh Narayanan , Keri Ramsey , Saadet Mercimek-Andrews , Loren Pena , Vandana Shashi , Auteur inconnu , Kelly Schoch , Jennifer A Sullivan , Filippo Pinto E Vairo , Pavel N Pichurin , Sarah A Ewing , Sarah S Barnett , Eric W Klee , M Scott Perry , Mary Kay Koenig , Catherine E Keegan , Jane L Schuette , Stephanie Asher , Yezmin Perilla-Young , Laurie D Smith , Jill A Rosenfeld , Elizabeth Bhoj , Paige Kaplan , Dong Li , Renske Oegema , Ellen van Binsbergen , Bert van der Zwaag , Marie Falkenberg Smeland , Ioana Cutcutache , Matthew Page , Martin Armstrong , Angela E Lin , Marcie A Steeves , Nicolette den Hollander , Mariëtte J V Hoffer , Margot R F Reijnders , Serwet Demirdas , Daniel C Koboldt , Dennis Bartholomew , Theresa Mihalic Mosher , Scott E Hickey , Christine Shieh , Pedro A Sanchez-Lara , John M Graham , Kamer Tezcan , G B Schaefer , Noelle R Danylchuk , Alexander Asamoah , Kelly E Jackson , Naomi Yachelevich , Margaret Au , Luis A Pérez-Jurado , Tjitske Kleefstra , Peter Penzes , Stephen A Wood , Thomas Burne , Tyler Mark Pierson , Michael Piper , Jozef Gécz , Lachlan A Jolly

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.

Molecular psychiatry
Avec: Karen Runge , Rémi Mathieu , Stéphane Bugeon , Sahra Lafi , Corinne Beurrier , Surajit Sahu , Fabienne Schaller , Arthur Loubat , Leonard Herault , Stéphane Gaillard , Emilie Pallesi-Pocachard , Aurélie Montheil , Andreas Bosio , Jill A Rosenfeld , Eva Hudson , Kristin Lindstrom , Saadet Mercimek-Andrews , Lauren Jeffries , Arie van Haeringen , Olivier Vanakker , Audrey Van Hecke , Dina Amrom , Sebastien Küry , Chana Ratner , Reena Jethva , Candace Gamble , Bernard Jacq , Laurent Fasano , Gabriel Santpere , Belen Lorente-Galdos , Nenad Sestan , Antoinette Gelot , Sylvie Giacuzz , Sandra Goebbels , Alfonso Represa , Carlos Cardoso , Harold Cremer , Antoine de Chevigny

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

Nature communications
Avec: Salima El Chehadeh , Kyung Ah Han , Dongwook Kim , Gyubin Jang , Somayeh Bakhtiari , Dongseok Lim , Hee Young Kim , Jinhu Kim , Hyeonho Kim , Julia Wynn , Wendy K Chung , Giuseppina Vitiello , Ioana Cutcutache , Matthew Page , Jozef Gecz , Kelly Harper , Ah-Reum Han , Ho Min Kim , Marja Wessels , Allan Bayat , Alberto Fernández Jaén , Angelo Selicorni , Silvia Maitz , Arjan P M de Brouwer , Anneke Vulto-van Silfhout , Martin Armstrong , Joseph Symonds , Sébastien Küry , Bertrand Isidor , Benjamin Cogné , Mathilde Nizon , Claire Feger , Jean Muller , Erin Torti , Dorothy K Grange , Marjolaine Willems , Michael C Kruer , Jaewon Ko , Amélie Piton , Ji Won Um

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Biological psychiatry
Avec: Anke Van Dijck , Anneke T Vulto-van Silfhout , Elisa Cappuyns , Ilse M van der Werf , Grazia M Mancini , Andreas Tzschach , Raphael Bernier , Illana Gozes , Evan E Eichler , Corrado Romano , Anna Lindstrand , Ann Nordgren , Auteur inconnu , Malin Kvarnung , Tjitske Kleefstra , Bert B A de Vries , Sébastien Küry , Jill A Rosenfeld , Marije E Meuwissen , Geert Vandeweyer , R Frank Kooy

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Michael D Fountain , David S Oleson , Megan E Rech , Lara Segebrecht , Jill V Hunter , John M McCarthy , Philip J Lupo , Manuel Holtgrewe , Rocio Moran , Jill A Rosenfeld , Bertrand Isidor , Cédric Le Caignec , Margarita S Saenz , Robert C Pedersen , Thomas M Morgan , Jean P Pfotenhauer , Fan Xia , Weimin Bi , Sung-Hae L Kang , Ankita Patel , Ian D Krantz , Sarah E Raible , Wendy Smith , Ingrid Cristian , Erin Torti , Jane Juusola , Francisca Millan , Ingrid M Wentzensen , Richard E Person , Sébastien Küry , Stéphane Bézieau , Kévin Uguen , Claude Férec , Arnold Munnich , Mieke van Haelst , Klaske D Lichtenbelt , Koen van Gassen , Tanner Hagelstrom , Aditi Chawla , Denise L Perry , Ryan J Taft , Marilyn Jones , Diane Masser-Frye , David Dyment , Sunita Venkateswaran , Chumei Li , Luis F Escobar , Denise Horn , Rebecca C Spillmann , Loren Peña , Jolanta Wierzba , Tim M Strom , Ilaria Parenti , Frank J Kaiser , Nadja Ehmke , Christian P Schaaf

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Frontiers in genetics
Avec: Christoffer Nellåker , Fowzan S Alkuraya , Gareth Baynam , Raphael A Bernier , Francois P J Bernier , Vanessa Boulanger , Michael Brudno , Han G Brunner , Jill Clayton-Smith , Benjamin Cogné , Hugh J S Dawkins , Bert B A deVries , Sofia Douzgou , Tracy Dudding-Byth , Evan E Eichler , Michael Ferlaino , Karen Fieggen , Helen V Firth , David R FitzPatrick , Dylan Gration , Tudor Groza , Melissa Haendel , Nina Hallowell , Ada Hamosh , Jayne Hehir-Kwa , Marc-Phillip Hitz , Mark Hughes , Usha Kini , Tjitske Kleefstra , R Frank Kooy , Peter Krawitz , Sébastien Küry , Melissa Lees , Gholson J Lyon , Stanislas Lyonnet , Julien L Marcadier , Stephen Meyn , Veronika Moslerová , Juan M Politei , Cathryn C Poulton , F Lucy Raymond , Margot R F Reijnders , Peter N Robinson , Corrado Romano , Catherine M Rose , David C G Sainsbury , Lyn Schofield , Vernon R Sutton , Marek Turnovec , Anke Van Dijck , Hilde Van Esch , Andrew O M Wilkie , Auteur inconnu

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Human genetics
Avec: Stephanie A Bien , Yu-Ru Su , David V Conti , Tabitha A Harrison , Conghui Qu , Xingyi Guo , Yingchang Lu , Demetrius Albanes , Paul L Auer , Barbara L Banbury , Sonja I Berndt , Stéphane Bézieau , Hermann Brenner , Daniel D Buchanan , Bette J Caan , Peter T Campbell , Christopher S Carlson , Andrew T Chan , Jenny Chang-Claude , Sai Chen , Charles M Connolly , Douglas F Easton , Edith J M Feskens , Steven Gallinger , Graham G Giles , Marc J Gunter , Jochen Hampe , Jeroen R Huyghe , Michael Hoffmeister , Thomas J Hudson , Eric J Jacobs , Mark A Jenkins , Ellen Kampman , Hyun Min Kang , Tilman Kühn , Sébastien Küry , Flavio Lejbkowicz , Loic Le Marchand , Roger L Milne , Li Li , Christopher I Li , Annika Lindblom , Noralane M Lindor , Vicente Martín , Caroline E McNeil , Marilena Melas , Victor Moreno , Polly A Newcomb , Kenneth Offit , Paul D P Pharaoh , John D Potter , Chenxu Qu , Elio Riboli , Gad Rennert , Núria Sala , Clemens Schafmayer , Peter C Scacheri , Stephanie L Schmit , Gianluca Severi , Martha L Slattery , Joshua D Smith , Antonia Trichopoulou , Rosario Tumino , Cornelia M Ulrich , Fränzel J B van Duijnhoven , Bethany Van Guelpen , Stephanie J Weinstein , Emily White , Alicja Wolk , Michael O Woods , Anna H Wu , Goncalo R Abeçasis , Graham Casey , Deborah A Nickerson , Stephen B Gruber , Li Hsu , Wei Zheng , Ulrike Peters

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

American journal of human genetics
Avec: Xenia Latypova , Marie Vincent , Alice Mollé , Oluwadamilare A Adebambo , Cynthia Fourgeux , Tahir N Khan , Alfonso Caro , Monica Rosello , Carmen Orellana , Dmitriy Niyazov , Damien Lederer , Marie Deprez , Yline Capri , Peter Kannu , Anne Claude Tabet , Jonathan Levy , Emmelien Aten , Nicolette den Hollander , Miranda Splitt , Jagdeep Walia , Ladonna L Immken , Pawel Stankiewicz , Kirsty McWalter , Sharon Suchy , Raymond J Louie , Shannon Bell , Roger E Stevenson , Justine Rousseau , Catherine Willem , Christelle Retiere , Xiang-Jiao Yang , Philippe M Campeau , Francisco Martinez , Jill A Rosenfeld , Cédric Le Caignec , Sébastien Küry , Sandra Mercier , Kamran Moradkhani , Solène Conrad , Thomas Besnard , Benjamin Cogné , Nicholas Katsanis , Stéphane Bézieau , Jeremie Poschmann , Erica E Davis , Bertrand Isidor

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Holly K Harris , Tojo Nakayama , Jenny Lai , Boxun Zhao , Nikoleta Argyrou , Cynthia S Gubbels , Aubrie Soucy , Casie A Genetti , Victoria Suslovitch , Lance H Rodan , George E Tiller , Gaetan Lesca , Karen W Gripp , Reza Asadollahi , Ada Hamosh , Carolyn D Applegate , Peter D Turnpenny , Marleen E H Simon , Catharina M L Volker-Touw , Koen L I van Gassen , Ellen van Binsbergen , Rolph Pfundt , Thatjana Gardeitchik , Bert B A de Vries , LaDonna L Immken , Catherine Buchanan , Marcia Willing , Tomi L Toler , Emily Fassi , Laura Baker , Fleur Vansenne , Xiadong Wang , Julian L Ambrus , Madeleine Fannemel , Jennifer E Posey , Emanuele Agolini , Antonio Novelli , Anita Rauch , Paranchai Boonsawat , Christina R Fagerberg , Martin J Larsen , Maria Kibaek , Audrey Labalme , Alice Poisson , Katelyn K Payne , Laurence E Walsh , Kimberly A Aldinger , Jorune Balciuniene , Cara Skraban , Christopher Gray , Jill Murrell , Caleb P Bupp , Giulia Pascolini , Paola Grammatico , Martin Broly , Sébastien Küry , Mathilde Nizon , Iqra Ghulam Rasool , Muhammad Yasir Zahoor , Cornelia Kraus , André Reis , Muhammad Iqbal , Kevin Uguen , Severine Audebert-Bellanger , Claude Ferec , Sylvia Redon , Janice Baker , Yunhong Wu , Guiseppe Zampino , Steffan Syrbe , Ines Brosse , Rami Abou Jamra , William B Dobyns , Lilian L Cohen , Anne Blomhoff , Cyril Mignot , Boris Keren , Thomas Courtin , Pankaj B Agrawal , Alan H Beggs , Timothy W Yu

Missense variant contribution to USP9X-female syndrome.

NPJ genomic medicine
Avec: Lachlan A Jolly , Euan Parnell , Alison E Gardner , Mark A Corbett , Luis A Pérez-Jurado , Marie Shaw , Gaetan Lesca , Catherine Keegan , Michael C Schneider , Emily Griffin , Felicitas Maier , Courtney Kiss , Andrea Guerin , Kathleen Crosby , Kenneth Rosenbaum , Pranoot Tanpaiboon , Sandra Whalen , Boris Keren , Julie McCarrier , Donald Basel , Simon Sadedin , Susan M White , Martin B Delatycki , Tjitske Kleefstra , Sébastien Küry , Alfredo Brusco , Elena Sukarova-Angelovska , Slavica Trajkova , Sehoun Yoon , Stephen A Wood , Michael Piper , Peter Penzes , Jozef Gecz

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

American journal of medical genetics. Part A
Avec: Monica H Wojcik , Siddharth Srivastava , Pankaj B Agrawal , Tugce B Balci , Bert Callewaert , Pier Luigi Calvo , Diana Carli , Michelle Caudle , Samantha Colaiacovo , Laura Cross , Kalliope Demetriou , Katy Drazba , Marina Dutra-Clarke , Matthew Edwards , Casie A Genetti , Dorothy K Grange , Scott E Hickey , Bertrand Isidor , Sébastien Küry , Herbert M Lachman , Alinoe Lavillaureix , Michael J Lyons , Carlo Marcelis , Elysa J Marco , Julian A Martinez-Agosto , Catherine Nowak , Antonio Pizzol , Marc Planes , Eloise J Prijoles , Evelise Riberi , Eric T Rush , Bianca E Russell , Rani Sachdev , Betsy Schmalz , Deborah Shears , David A Stevenson , Kate Wilson , Sandra Jansen , Bert B A de Vries , Cynthia J Curry

Sex hormones and risk of lung and colorectal cancers in women: a Mendelian randomization study.

Research square
Avec: Marion Denos , Yi-Qian Sun , Ben Brumpton , Yafang Li , Demetrius Albanes , Andrea Burnett-Hartman , Peter T Campbell , Sébastien Küry , Christopher I Li , Emily White , Jewel N Samadder , Mark Jenkins , Xiao-Mei Mai

Germline mutations in a G protein identify signaling cross-talk in T cells.

Science (New York, N.Y.)
Avec: Hyoungjun Ham , Huie Jing , Ian T Lamborn , Megan M Kober , Alexey Koval , Yamina A Berchiche , D Eric Anderson , Kirk M Druey , Judith N Mandl , Bertrand Isidor , Carlos R Ferreira , Alexandra F Freeman , Sundar Ganesan , Meliha Karsak , Peter J Mustillo , Juliana Teo , Zarazuela Zolkipli-Cunningham , Nicolas Chatron , François Lecoquierre , Andrew J Oler , Jana Pachlopnik Schmid , Douglas B Kuhns , Xuehua Xu , Fabian Hauck , Waleed Al-Herz , Matias Wagner , Paulien A Terhal , Mari Muurinen , Vincent Barlogis , Phillip Cruz , Jeffrey Danielson , Helen Stewart , Petra Loid , Sebastian Rading , Boris Keren , Rolph Pfundt , Kol A Zarember , Katharina Vill , Lorraine Potocki , Kenneth N Olivier , Gaetan Lesca , Laurence Faivre , Melanie Wong , Anne Puel , Janet Chou , Maud Tusseau , Niki M Moutsopoulos , Helen F Matthews , Cas Simons , Ryan J Taft , Ariane Soldatos , Etienne Masle-Farquhar , Stefania Pittaluga , Robert Brink , Danielle L Fink , Heidi H Kong , Juraj Kabat , Woo Sung Kim , Tatjana Bierhals , Kazuyuki Meguro , Amy P Hsu , Jingwen Gu , Jennifer Stoddard , Benito Banos-Pinero , Maria Slack , Giampaolo Trivellin , Benoît Mazel , Maarja Soomann , Samuel Li , Val J Watts , Constantine A Stratakis , Maria F Rodriguez-Quevedo , Ange-Line Bruel , Marita Lipsanen-Nyman , Paul Saultier , Rashmi Jain , Daphne Lehalle , Daniel Torres , Kathleen E Sullivan , Sébastien Barbarot , Axel Neu , Yannis Duffourd , Morgan Similuk , Kirsty McWalter , Pierre Blanc , Stéphane Bézieau , Tian Jin , Raif S Geha , Jean-Laurent Casanova , Outi M Makitie , Christian Kubisch , Patrick Edery , John Christodoulou , Ronald N Germain , Christopher C Goodnow , Thomas P Sakmar , Daniel D Billadeau , Sébastien Küry , Vladimir L Katanaev , Yu Zhang , Michael J Lenardo , Helen C Su

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

European journal of human genetics : EJHG
Avec: Meena Balasubramanian , Alexander J M Dingemans , Shadi Albaba , Ruth Richardson , Thabo M Yates , Helen Cox , Sofia Douzgou , Ruth Armstrong , Francis H Sansbury , Katherine B Burke , Andrew E Fry , Nicola Ragge , Saba Sharif , Alison Foster , Annachiara De Sandre-Giovannoli , Sahar Elouej , Pradeep Vasudevan , Sahar Mansour , Kate Wilson , Helen Stewart , Solveig Heide , Caroline Nava , Boris Keren , Serwet Demirdas , Alice S Brooks , Marie Vincent , Bertrand Isidor , Sebastien Küry , Meyke Schouten , Erika Leenders , Wendy K Chung , Arie van Haeringen , Thomas Scheffner , Francois-Guillaume Debray , Susan M White , Maria Irene Valenzuela Palafoll , Rolph Pfundt , Ruth Newbury-Ecob , Tjitske Kleefstra

Genetic architectures of proximal and distal colorectal cancer are partly distinct.

Gut
Avec: Jeroen R Huyghe , Tabitha A Harrison , Stephanie A Bien , Heather Hampel , Jane C Figueiredo , Stephanie L Schmit , David V Conti , Sai Chen , Conghui Qu , Yi Lin , Richard Barfield , John A Baron , Amanda J Cross , Brenda Diergaarde , David Duggan , Sophia Harlid , Liher Imaz , Hyun Min Kang , David M Levine , Vittorio Perduca , Aurora Perez-Cornago , Lori C Sakoda , Fredrick R Schumacher , Martha L Slattery , Amanda E Toland , Fränzel J B van Duijnhoven , Bethany Van Guelpen , Antonio Agudo , Demetrius Albanes , M Henar Alonso , Kristin Anderson , Coral Arnau-Collell , Volker Arndt , Barbara L Banbury , Michael C Bassik , Sonja I Berndt , Stéphane Bézieau , D Timothy Bishop , Juergen Boehm , Heiner Boeing , Marie-Christine Boutron-Ruault , Hermann Brenner , Stefanie Brezina , Stephan Buch , Daniel D Buchanan , Andrea Burnett-Hartman , Bette J Caan , Peter T Campbell , Prudence R Carr , Antoni Castells , Sergi Castellví-Bel , Andrew T Chan , Jenny Chang-Claude , Stephen J Chanock , Keith R Curtis , Albert de la Chapelle , Douglas F Easton , Dallas R English , Edith J M Feskens , Manish Gala , Steven J Gallinger , W James Gauderman , Graham G Giles , Phyllis J Goodman , William M Grady , John S Grove , Andrea Gsur , Marc J Gunter , Robert W Haile , Jochen Hampe , Michael Hoffmeister , John L Hopper , Wan-Ling Hsu , Wen-Yi Huang , Thomas J Hudson , Mazda Jenab , Mark A Jenkins , Amit D Joshi , Temitope O Keku , Charles Kooperberg , Tilman Kühn , Sébastien Küry , Loic Le Marchand , Flavio Lejbkowicz , Christopher I Li , Li Li , Wolfgang Lieb , Annika Lindblom , Noralane M Lindor , Satu Männistö , Sanford D Markowitz , Roger L Milne , Lorena Moreno , Neil Murphy , Rami Nassir , Kenneth Offit , Shuji Ogino , Salvatore Panico , Patrick S Parfrey , Rachel Pearlman , Paul D P Pharoah , Amanda I Phipps , Elizabeth A Platz , John D Potter , Ross L Prentice , Lihong Qi , Leon Raskin , Gad Rennert , Hedy S Rennert , Elio Riboli , Clemens Schafmayer , Robert E Schoen , Daniela Seminara , Mingyang Song , Yu-Ru Su , Catherine M Tangen , Stephen N Thibodeau , Duncan C Thomas , Antonia Trichopoulou , Cornelia M Ulrich , Kala Visvanathan , Pavel Vodicka , Ludmila Vodickova , Veronika Vymetalkova , Korbinian Weigl , Stephanie J Weinstein , Emily White , Alicja Wolk , Michael O Woods , Anna H Wu , Goncalo R Abecasis , Deborah A Nickerson , Peter C Scacheri , Anshul Kundaje , Graham Casey , Stephen B Gruber , Li Hsu , Victor Moreno , Richard B Hayes , Polly A Newcomb , Ulrike Peters

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Neuron
Avec: Ashley L Lennox , Mariah L Hoye , Ruiji Jiang , Bethany L Johnson-Kerner , Lindsey A Suit , Srivats Venkataramanan , Charles J Sheehan , Fernando C Alsina , Brieana Fregeau , Kimberly A Aldinger , Ching Moey , Iryna Lobach , Alexandra Afenjar , Dusica Babovic-Vuksanovic , Stéphane Bézieau , Patrick R Blackburn , Jens Bunt , Lydie Burglen , Philippe M Campeau , Perrine Charles , Brian H Y Chung , Benjamin Cogné , Cynthia Curry , Maria Daniela D'Agostino , Nataliya Di Donato , Laurence Faivre , Delphine Héron , A Micheil Innes , Bertrand Isidor , Boris Keren , Amy Kimball , Eric W Klee , Paul Kuentz , Sébastien Küry , Dominique Martin-Coignard , Ghayda Mirzaa , Cyril Mignot , Noriko Miyake , Naomichi Matsumoto , Atsushi Fujita , Caroline Nava , Mathilde Nizon , Diana Rodriguez , Lot Snijders Blok , Christel Thauvin-Robinet , Julien Thevenon , Marie Vincent , Alban Ziegler , William Dobyns , Linda J Richards , A James Barkovich , Stephen N Floor , Debra L Silver , Elliott H Sherr

Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis.

Frontiers in molecular neuroscience
Avec: Frédéric Ebstein , Sébastien Küry , Jonas Johannes Papendorf , Elke Krüger

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

American journal of human genetics
Avec: James L Shepherdson , Katie Hutchison , Dilan Wellalage Don , George McGillivray , Tae-Ik Choi , Carolyn A Allan , David J Amor , Siddharth Banka , Donald G Basel , Laura D Buch , Deanna Alexis Carere , Renée Carroll , Jill Clayton-Smith , Ali Crawford , Morten Dunø , Laurence Faivre , Christopher P Gilfillan , Nina B Gold , Karen W Gripp , Emma Hobson , Alexander M Holtz , A Micheil Innes , Bertrand Isidor , Adam Jackson , Panagiotis Katsonis , Leila Amel Riazat Kesh , Auteur inconnu , Sébastien Küry , François Lecoquierre , Paul Lockhart , Julien Maraval , Naomichi Matsumoto , Julie McCarrier , Josephine McCarthy , Noriko Miyake , Lip Hen Moey , Andrea H Németh , Elsebet Østergaard , Rushina Patel , Kate Pope , Jennifer E Posey , Rhonda E Schnur , Marie Shaw , Elliot Stolerman , Julie P Taylor , Erin Wadman , Emma Wakeling , Susan M White , Lawrence C Wong , James R Lupski , Olivier Lichtarge , Mark A Corbett , Jozef Gecz , Charles M Nicolet , Peggy J Farnham , Cheol-Hee Kim , Marwan Shinawi

[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction].

Medecine sciences : M/S
Avec: Silvestre Cuinat , Stéphane Bézieau , Wallid Deb , Sandra Mercier , Virginie Vignard , Bérénice Toutain , Bertrand Isidor , Sébastien Küry , Frédéric Ebstein

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.

HGG advances
Avec: James Chettle , Raymond J Louie , Olivia Larner , Robert Best , Kevin Chen , Josephine Morris , Zinaida Dedeic , Anna Childers , R Curtis Rogers , Barbara R DuPont , Cindy Skinner , Sébastien Küry , Kevin Uguen , Marc Planes , Danielle Monteil , Megan Li , Aviva Eliyahu , Lior Greenbaum , Nofar Mor , Thomas Besnard , Bertrand Isidor , Benjamin Cogné , Alyssa Blesson , Anne Comi , Ingrid M Wentzensen , Blake Vuocolo , Seema R Lalani , Roberta Sierra , Lori Berry , Kent Carter , Stephan J Sanders , Sarah P Blagden

Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer.

EBioMedicine
Avec: Nikos Papadimitriou , Andre Kim , Eric S Kawaguchi , John Morrison , Virginia Diez-Obrero , Demetrius Albanes , Sonja I Berndt , Stéphane Bézieau , Stephanie A Bien , D Timothy Bishop , Emmanouil Bouras , Hermann Brenner , Daniel D Buchanan , Peter T Campbell , Robert Carreras-Torres , Andrew T Chan , Jenny Chang-Claude , David V Conti , Matthew A Devall , Niki Dimou , David A Drew , Stephen B Gruber , Tabitha A Harrison , Michael Hoffmeister , Jeroen R Huyghe , Amit D Joshi , Temitope O Keku , Anshul Kundaje , Sébastien Küry , Loic Le Marchand , Juan Pablo Lewinger , Li Li , Brigid M Lynch , Victor Moreno , Christina C Newton , Mireia Obón-Santacana , Jennifer Ose , Andrew J Pellatt , Anita R Peoples , Elizabeth A Platz , Conghui Qu , Gad Rennert , Edward Ruiz-Narvaez , Anna Shcherbina , Mariana C Stern , Yu-Ru Su , Duncan C Thomas , Claire E Thomas , Yu Tian , Konstantinos K Tsilidis , Cornelia M Ulrich , Caroline Y Um , Kala Visvanathan , Jun Wang , Emily White , Michael O Woods , Stephanie L Schmit , Finlay Macrae , John D Potter , John L Hopper , Ulrike Peters , Neil Murphy , Li Hsu , Marc J Gunter , W James Gauderman

Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?

Frontiers in cell and developmental biology
Avec: Virginie Vignard , Alban-Elouen Baruteau , Bérénice Toutain , Sandra Mercier , Bertrand Isidor , Richard Redon , Jean-Jacques Schott , Sébastien Küry , Stéphane Bézieau , Anne H Monsoro-Burq , Frédéric Ebstein

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Research square
Avec: Tzung-Chien Hsieh , Hellen Lesmann , Alexander Hustinx , Shahida Moosa , Elaine Marchi , Maria Del Pilar Caro Martin , Ibrahim Abdelrazek , Jean Tori Pantel , Hannah Klinkhammer , Merle Ten Hagen , Meow-Keong Thong , Rifhan Azwani Binti Mazlan , Sok Kun Tae , Tom Kamphans , Wolfgang Meiswinkel , Jing-Mei Li , Behnam Javanmardi , Alexej Knaus , Annette Uwineza , Cordula Knopp , Tinatin Tkemaladze , Miriam Elbracht , Larissa Mattern , Rami Abou Jamra , Clara Velmans , Vincent Strehlow , Maureen Jacob , Angela Peron , Cristina Dias , Beatriz Nunes , Thainá Vilella , Isabel Pinheiro , Chong Kim , Maria Melaragno , Hannah Weiland , Sophia Kaptain , Karolina Chwiałkowska , Miroslaw Kwasniewski , Ramy Saad , Sarah Wiethoff , Himanshu Goel , Clara Tang , Anna Hau , Tahsin Stefan Barakat , Przemysław Panek , Amira Nabil , Julia Suh , Frederik Braun , Israel Gomy , Luisa Averdunk , Ekanem Ekure , Gaber Bergant , Borut Peterlin , Claudio Graziano , Nagwa Gaboon , Moisés Fiesco-Roa , Alessandro Spinelli , Nina-Maria Wilpert , Prasit Phowthongkum , Nergis Güzel , Tobias Haack , Rana Bitar , Andreas Tzschach , Agusti Rodriguez-Palmero , Theresa Brunet , Sabine Rudnik-Schöneborn , Silvina Contreras-Capetillo , Ava Oberlack , Carole Samango-Sprouse , Teresa Sadeghin , Margaret Olaya , Konrad Platzer , Artem Borovikov , Franziska Schnabel , Lara Heuft , Vera Herrmann , Renske Oegema , Nour Elkhateeb , Sheetal Kumar , Katalin Komlosi , Khoushoua Mohamed , Silvia Kalantari , Fabio Sirchia , Antonio Martinez-Monseny , Matthias Höller , Amal Mohamed , Amaia Lasa-Aranzasti , John Sayer , Nadja Ehmke , Magdalena Danyel , Henrike Sczakiel , Sarina Schwartzmann , Felix Boschann , Max Zhao , Ronja Adams , Lara Einicke , Denise Horn , Kee Seang Chew , Choy Chen Kam , Miray Karakoyun , Ben Pode-Shakked , Aviva Eliyahu , Rachel Rock , Teresa Carrion , Odelia Chorin , Yuri Zarate , Marcello Martinez , Mert Karakaya , Moon Ley Tung , Bharatendu Chandra , Aimé Lumaka , Marwan Shinawi , Patrick Blackburn , Tianyun Wang , Tim Niehues , Ping Hu , Rebekah Waikel , Suzanna Ledgister Hanchard , Gehad Elmakkawy , Sylvia Safwat , Frédéric Ebstein , Elke Krüger , Sébastien Küry , Stephane Bezieau , Annabelle Arlt , Felix Marbach , Dong Li , Lucie Dupuis , Roberto Mendoza-Londono , Sofia Douzgou Houge , Denisa Weis , Brian Chung , Christopher Mak , Nursel Elcioglu , Ayca Aykut , Peli Şimşek-Kiper , Nina Bögershausen , Bernd Wollnik , Heidi Beate Bentzen , Ingo Kurth , Christian Netzer , Aleksandra Jezela-Stanek , Koen Devriendt , Karen Gripp , Martin Mücke , Alain Verloes , Christian Schaaf , Christoffer Nellåker , Benjamin Solomon , Markus Nöthen , Ebtesam Abdalla , Gholson Lyon , Peter Krawitz , Hulya Kayserili , Louiza Toutouna , Axel Schmidt , Regina Roth , Dagmar Wieczorek , Eric Olinger

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.

Genes & diseases
Avec: Silvestre Cuinat , Stéphane Bézieau , Wallid Deb , Sandra Mercier , Virginie Vignard , Bertrand Isidor , Sébastien Küry , Frédéric Ebstein

Loss-of-function variants in

medRxiv : the preprint server for health sciences
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal Morel , Jordan Lerner- Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Sander Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations.

Nature communications
Avec: Minta Thomas , Yu-Ru Su , Elisabeth A Rosenthal , Lori C Sakoda , Stephanie L Schmit , Maria N Timofeeva , Zhishan Chen , Ceres Fernandez-Rozadilla , Philip J Law , Neil Murphy , Robert Carreras-Torres , Virginia Diez-Obrero , Franzel J B van Duijnhoven , Shangqing Jiang , Aesun Shin , Alicja Wolk , Amanda I Phipps , Andrea Burnett-Hartman , Andrea Gsur , Andrew T Chan , Ann G Zauber , Anna H Wu , Annika Lindblom , Caroline Y Um , Catherine M Tangen , Chris Gignoux , Christina Newton , Christopher A Haiman , Conghui Qu , D Timothy Bishop , Daniel D Buchanan , David R Crosslin , David V Conti , Dong-Hyun Kim , Elizabeth Hauser , Emily White , Erin Siegel , Fredrick R Schumacher , Gad Rennert , Graham G Giles , Heather Hampel , Hermann Brenner , Isao Oze , Jae Hwan Oh , Jeffrey K Lee , Jennifer L Schneider , Jenny Chang-Claude , Jeongseon Kim , Jeroen R Huyghe , Jiayin Zheng , Jochen Hampe , Joel Greenson , John L Hopper , Julie R Palmer , Kala Visvanathan , Keitaro Matsuo , Koichi Matsuda , Keum Ji Jung , Li Li , Loic Le Marchand , Ludmila Vodickova , Luis Bujanda , Marc J Gunter , Marco Matejcic , Mark A Jenkins , Martha L Slattery , Mauro D'Amato , Meilin Wang , Michael Hoffmeister , Michael O Woods , Michelle Kim , Mingyang Song , Motoki Iwasaki , Mulong Du , Natalia Udaltsova , Norie Sawada , Pavel Vodicka , Peter T Campbell , Polly A Newcomb , Qiuyin Cai , Rachel Pearlman , Rish K Pai , Robert E Schoen , Robert S Steinfelder , Robert W Haile , Rosita Vandenputtelaar , Ross L Prentice , Sébastien Küry , Sergi Castellví-Bel , Shoichiro Tsugane , Sonja I Berndt , Soo Chin Lee , Stefanie Brezina , Stephanie J Weinstein , Stephen J Chanock , Sun Ha Jee , Sun-Seog Kweon , Susan Vadaparampil , Tabitha A Harrison , Taiki Yamaji , Temitope O Keku , Veronika Vymetalkova , Volker Arndt , Wei-Hua Jia , Xiao-Ou Shu , Yi Lin , Yoon-Ok Ahn , Zsofia K Stadler , Bethany Van Guelpen , Cornelia M Ulrich , Elizabeth A Platz , John D Potter , Christopher I Li , Reinier Meester , Victor Moreno , Jane C Figueiredo , Graham Casey , Iris Lansdorp Vogelaar , Malcolm G Dunlop , Stephen B Gruber , Richard B Hayes , Paul D P Pharoah , Richard S Houlston , Gail P Jarvik , Ian P Tomlinson , Wei Zheng , Douglas A Corley , Ulrike Peters , Li Hsu

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene

medRxiv : the preprint server for health sciences
Avec: Sébastien Küry , Janelle E Stanton , Geeske van Woerden , Tzung-Chien Hsieh , Cory Rosenfelt , Marie Pier Scott-Boyer , Victoria Most , Tianyun Wang , Jonas Johannes Papendorf , Charlotte de Konink , Wallid Deb , Virginie Vignard , Maja Studencka-Turski , Thomas Besnard , Anna Marta Hajdukowicz , Franziska Thiel , Sophie Möller , Laëtitia Florenceau , Silvestre Cuinat , Sylvain Marsac , Ingrid Wentzensen , Annabelle Tuttle , Cara Forster , Johanna Striesow , Richard Golnik , Damara Ortiz , Laura Jenkins , Jill A Rosenfeld , Alban Ziegler , Clara Houdayer , Dominique Bonneau , Erin Torti , Amber Begtrup , Kristin G Monaghan , Sureni V Mullegama , C M L Nienke Volker-Touw , Koen L I van Gassen , Renske Oegema , Mirjam de Pagter , Katharina Steindl , Anita Rauch , Ivan Ivanovski , Kimberly McDonald , Emily Boothe , Andrew Dauber , Janice Baker , Noelle Andrea V Fabie , Raphael A Bernier , Tychele N Turner , Siddharth Srivastava , Kira A Dies , Lindsay Swanson , Carrie Costin , Rebekah K Jobling , John Pappas , Rachel Rabin , Dmitriy Niyazov , Anne Chun-Hui Tsai , Karen Kovak , David B Beck , McV Malicdan , David R Adams , Lynne Wolfe , Rebecca D Ganetzky , Colleen Muraresku , Davit Babikyan , Zdeněk Sedláček , Miroslava Hančárová , Andrew T Timberlake , Hind Al Saif , Berkley Nestler , Kayla King , M J Hajianpour , Gregory Costain , D'Arcy Prendergast , Chumei Li , David Geneviève , Antonio Vitobello , Arthur Sorlin , Christophe Philippe , Tamar Harel , Ori Toker , Ataf Sabir , Derek Lim , Mark Hamilton , Lisa Bryson , Elaine Cleary , Sacha Weber , Trevor L Hoffman , Anna Maria Cueto-González , Eduardo Fidel Tizzano , David Gómez-Andrés , Marta Codina-Solà , Athina Ververi , Efterpi Pavlidou , Alexandros Lambropoulos , Kyriakos Garganis , Marlène Rio , Jonathan Levy , Sarah Jurgensmeyer , Anne M McRae , Mathieu Kent Lessard , Maria Daniela D'Agostino , Isabelle De Bie , Meret Wegler , Rami Abou Jamra , Susanne B Kamphausen , Viktoria Bothe , Larissa M Busch , Uwe Völker , Elke Hammer , Kristian Wende , Benjamin Cogné , Bertrand Isidor , Jens Meiler , Amélie Bosc-Rosati , Julien Marcoux , Marie-Pierre Bousquet , Jeremie Poschmann , Frédéric Laumonnier , Peter W Hildebrand , Evan E Eichler , Kirsty McWalter , Peter M Krawitz , Arnaud Droit , Ype Elgersma , Andreas M Grabrucker , Francois V Bolduc , Stéphane Bézieau , Frédéric Ebstein , Elke Krüger

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Dominic Lenz , Desirée E C Smith , Ellen Crushell , Ralf A Husain , Gajja S Salomons , Bader Alhaddad , Jonathan A Bernstein , Alyssa Bianzano , Saskia Biskup , Heiko Brennenstuhl , Dominique Caldari , Nicola Dikow , Tobias B Haack , Andrea Hanson-Kahn , Inga Harting , Denise Horn , Joanne Hughes , Maya Huijberts , Bertrand Isidor , Simone Kathemann , Robert Kopajtich , Urania Kotzaeridou , Sébastien Küry , Elke Lainka , Lucia Laugwitz , James R Lupski , Jennifer E Posey , Claire Reynolds , Jill A Rosenfeld , Julian Schröter , Fleur Vansenne , Matias Wagner , Claudia Weiß , Bruce H R Wolffenbuttel , Saskia B Wortmann , Stefan Kölker , Georg F Hoffmann , Holger Prokisch , Marisa I Mendes , Christian Staufner

A dominant vimentin variant causes a rare syndrome with premature aging.

European journal of human genetics : EJHG
Avec: Benjamin Cogné , Jamal-Eddine Bouameur , Gaëlle Hayot , Xenia Latypova , Sundararaghavan Pattabiraman , Amandine Caillaud , Karim Si-Tayeb , Thomas Besnard , Sébastien Küry , Caroline Chariau , Anne Gaignerie , Laurent David , Philippe Bordure , Daniel Kaganovich , Stéphane Bézieau , Christelle Golzio , Thomas M Magin , Bertrand Isidor

Discovery of common and rare genetic risk variants for colorectal cancer.

Nature genetics
Avec: Jeroen R Huyghe , Stephanie A Bien , Tabitha A Harrison , Hyun Min Kang , Sai Chen , Stephanie L Schmit , David V Conti , Conghui Qu , Jihyoun Jeon , Christopher K Edlund , Peyton Greenside , Michael Wainberg , Fredrick R Schumacher , Joshua D Smith , David M Levine , Sarah C Nelson , Nasa A Sinnott-Armstrong , Demetrius Albanes , M Henar Alonso , Kristin Anderson , Coral Arnau-Collell , Volker Arndt , Christina Bamia , Barbara L Banbury , John A Baron , Sonja I Berndt , Stéphane Bézieau , D Timothy Bishop , Juergen Boehm , Heiner Boeing , Hermann Brenner , Stefanie Brezina , Stephan Buch , Daniel D Buchanan , Andrea Burnett-Hartman , Katja Butterbach , Bette J Caan , Peter T Campbell , Christopher S Carlson , Sergi Castellví-Bel , Andrew T Chan , Jenny Chang-Claude , Stephen J Chanock , Maria-Dolores Chirlaque , Sang Hee Cho , Charles M Connolly , Amanda J Cross , Katarina Cuk , Keith R Curtis , Albert de la Chapelle , Kimberly F Doheny , David Duggan , Douglas F Easton , Sjoerd G Elias , Faye Elliott , Dallas R English , Edith J M Feskens , Jane C Figueiredo , Rocky Fischer , Liesel M FitzGerald , David Forman , Manish Gala , Steven Gallinger , W James Gauderman , Graham G Giles , Elizabeth Gillanders , Jian Gong , Phyllis J Goodman , William M Grady , John S Grove , Andrea Gsur , Marc J Gunter , Robert W Haile , Jochen Hampe , Heather Hampel , Sophia Harlid , Richard B Hayes , Philipp Hofer , Michael Hoffmeister , John L Hopper , Wan-Ling Hsu , Wen-Yi Huang , Thomas J Hudson , David J Hunter , Gemma Ibañez-Sanz , Gregory E Idos , Roxann Ingersoll , Rebecca D Jackson , Eric J Jacobs , Mark A Jenkins , Amit D Joshi , Corinne E Joshu , Temitope O Keku , Timothy J Key , Hyeong Rok Kim , Emiko Kobayashi , Laurence N Kolonel , Charles Kooperberg , Tilman Kühn , Sébastien Küry , Sun-Seog Kweon , Susanna C Larsson , Cecelia A Laurie , Loic Le Marchand , Suzanne M Leal , Soo Chin Lee , Flavio Lejbkowicz , Mathieu Lemire , Christopher I Li , Li Li , Wolfgang Lieb , Yi Lin , Annika Lindblom , Noralane M Lindor , Hua Ling , Tin L Louie , Satu Männistö , Sanford D Markowitz , Vicente Martín , Giovanna Masala , Caroline E McNeil , Marilena Melas , Roger L Milne , Lorena Moreno , Neil Murphy , Robin Myte , Alessio Naccarati , Polly A Newcomb , Kenneth Offit , Shuji Ogino , N Charlotte Onland-Moret , Barbara Pardini , Patrick S Parfrey , Rachel Pearlman , Vittorio Perduca , Paul D P Pharoah , Mila Pinchev , Elizabeth A Platz , Ross L Prentice , Elizabeth Pugh , Leon Raskin , Gad Rennert , Hedy S Rennert , Elio Riboli , Miguel Rodríguez-Barranco , Jane Romm , Lori C Sakoda , Clemens Schafmayer , Robert E Schoen , Daniela Seminara , Mitul Shah , Tameka Shelford , Min-Ho Shin , Katerina Shulman , Sabina Sieri , Martha L Slattery , Melissa C Southey , Zsofia K Stadler , Christa Stegmaier , Yu-Ru Su , Catherine M Tangen , Stephen N Thibodeau , Duncan C Thomas , Sushma S Thomas , Amanda E Toland , Antonia Trichopoulou , Cornelia M Ulrich , David J Van Den Berg , Franzel J B van Duijnhoven , Bethany Van Guelpen , Henk van Kranen , Joseph Vijai , Kala Visvanathan , Pavel Vodicka , Ludmila Vodickova , Veronika Vymetalkova , Korbinian Weigl , Stephanie J Weinstein , Emily White , Aung Ko Win , C Roland Wolf , Alicja Wolk , Michael O Woods , Anna H Wu , Syed H Zaidi , Brent W Zanke , Qing Zhang , Wei Zheng , Peter C Scacheri , John D Potter , Michael C Bassik , Anshul Kundaje , Graham Casey , Victor Moreno , Goncalo R Abecasis , Deborah A Nickerson , Stephen B Gruber , Li Hsu , Ulrike Peters

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Human genetics
Avec: Stephanie A Bien , Yu-Ru Su , David V Conti , Tabitha A Harrison , Conghui Qu , Xingyi Guo , Yingchang Lu , Demetrius Albanes , Paul L Auer , Barbara L Banbury , Sonja I Berndt , Stéphane Bézieau , Hermann Brenner , Daniel D Buchanan , Bette J Caan , Peter T Campbell , Christopher S Carlson , Andrew T Chan , Jenny Chang-Claude , Sai Chen , Charles M Connolly , Douglas F Easton , Edith J M Feskens , Steven Gallinger , Graham G Giles , Marc J Gunter , Jochen Hampe , Jeroen R Huyghe , Michael Hoffmeister , Thomas J Hudson , Eric J Jacobs , Mark A Jenkins , Ellen Kampman , Hyun Min Kang , Tilman Kühn , Sébastien Küry , Flavio Lejbkowicz , Loic Le Marchand , Roger L Milne , Li Li , Christopher I Li , Annika Lindblom , Noralane M Lindor , Vicente Martín , Caroline E McNeil , Marilena Melas , Victor Moreno , Polly A Newcomb , Kenneth Offit , Paul D P Pharaoh , John D Potter , Chenxu Qu , Elio Riboli , Gad Rennert , Núria Sala , Clemens Schafmayer , Peter C Scacheri , Stephanie L Schmit , Gianluca Severi , Martha L Slattery , Joshua D Smith , Antonia Trichopoulou , Rosario Tumino , Cornelia M Ulrich , Fränzel J B van Duijnhoven , Bethany Van Guelpen , Stephanie J Weinstein , Emily White , Alicja Wolk , Michael O Woods , Anna H Wu , Goncalo R Abecasis , Graham Casey , Deborah A Nickerson , Stephen B Gruber , Li Hsu , Wei Zheng , Ulrike Peters

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Bertrand Isidor , Frédéric Ebstein , Anna Hurst , Marie Vincent , Ingrid Bader , Natasha L Rudy , Benjamin Cogne , Johannes Mayr , Anja Brehm , Caleb Bupp , Kathryn Warren , Carlos A Bacino , Amanda Gerard , Judith D Ranells , Kay A Metcalfe , Yolande van Bever , Yong-Hui Jiang , Bryce A Mendelssohn , Heidi Cope , Jill A Rosenfeld , Patrick R Blackburn , McKinsey L Goodenberger , Hutton M Kearney , Joanna Kennedy , Ingrid Scurr , Krzysztof Szczaluba , Rafal Ploski , Anne de Saint Martin , Yves Alembik , Amélie Piton , Ange-Line Bruel , Christel Thauvin-Robinet , Alanna Strong , Karin E M Diderich , Dominique Bourgeois , Karin Dahan , Virginie Vignard , Dominique Bonneau , Estelle Colin , Magalie Barth , Caroline Camby , Geneviève Baujat , Ignacio Briceño , Alberto Gómez , Wallid Deb , Solène Conrad , Thomas Besnard , Stéphane Bézieau , Elke Krüger , Sébastien Küry , PaweƗ Stankiewicz

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

American journal of human genetics
Avec: Médéric Jeanne , Hélène Demory , Aubin Moutal , Marie-Laure Vuillaume , Sophie Blesson , Rose-Anne Thépault , Sylviane Marouillat , Judith Halewa , Saskia M Maas , M Mahdi Motazacker , Grazia M S Mancini , Marjon A van Slegtenhorst , Avgi Andreou , Helene Cox , Julie Vogt , Jason Laufman , Natella Kostandyan , Davit Babikyan , Miroslava Hancarova , Sarka Bendova , Zdenek Sedlacek , Kimberly A Aldinger , Elliott H Sherr , Emanuela Argilli , Eleina M England , Séverine Audebert-Bellanger , Dominique Bonneau , Estelle Colin , Anne-Sophie Denommé-Pichon , Brigitte Gilbert-Dussardier , Bertrand Isidor , Sébastien Küry , Sylvie Odent , Richard Redon , Rajesh Khanna , William B Dobyns , Stéphane Bézieau , Jérôme Honnorat , Bernhard Lohkamp , Annick Toutain , Frédéric Laumonnier

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sébastien Küry , Jinwei Zhang , Thomas Besnard , Alfonso Caro-Llopis , Xue Zeng , Stephanie M Robert , Sunday S Josiah , Emre Kiziltug , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Adam J Kundishora , Le T Hao , Hong Li , Roger E Stevenson , Raymond J Louie , Wallid Deb , Erin Torti , Virginie Vignard , Kirsty McWalter , F Lucy Raymond , Farrah Rajabi , Emmanuelle Ranza , Detelina Grozeva , Stephanie A Coury , Xavier Blanc , Elise Brischoux-Boucher , Boris Keren , Katrin Õunap , Karit Reinson , Pilvi Ilves , Ingrid M Wentzensen , Eileen E Barr , Solveig Heide Guihard , Perrine Charles , Eleanor G Seaby , Kristin G Monaghan , Marlène Rio , Yolande van Bever , Marjon van Slegtenhorst , Wendy K Chung , Ashley Wilson , Delphine Quinquis , Flora Bréhéret , Kyle Retterer , Pierre Lindenbaum , Emmanuel Scalais , Lindsay Rhodes , Katrien Stouffs , Elaine M Pereira , Sara M Berger , Sarah S Milla , Ankita B Jaykumar , Melanie H Cobb , Shreyas Panchagnula , Phan Q Duy , Marie Vincent , Sandra Mercier , Brigitte Gilbert-Dussardier , Xavier Le Guillou , Séverine Audebert-Bellanger , Sylvie Odent , Sébastien Schmitt , Pierre Boisseau , Dominique Bonneau , Annick Toutain , Estelle Colin , Laurent Pasquier , Richard Redon , Arjan Bouman , Jill A Rosenfeld , Michael J Friez , Helena Pérez-Peña , Syed Raza Akhtar Rizvi , Shozeb Haider , Stylianos E Antonarakis , Charles E Schwartz , Francisco Martínez , Stéphane Bézieau , Kristopher T Kahle , Bertrand Isidor

Molecular and Phenotypic Characterization of the

Neurology
Avec: Zeynep Gokce-Samar , Annalisa Vetro , Julitta De Bellescize , Tiziana Pisano , Laloe Monteiro , Noémie Penaud , Christian M Korff , Joel Fluss , Carla Marini , Elisabetta Cesaroni , Blanca Mercedes Alvarez , Damien Sanlaville , Nicolas Chatron , Alexis A Arzimanoglou , Audrey Labalme , Vishnu A Cuddapah , Sarah M Ruggiero , Francois Lecoquierre , Gael Nicolas , Guerrot Anne Marie , Axel Lebas , Herve O Testard , Katherine L Helbig , Anna Ruiz , Adeline Ngoh , Manju A Kurian , Kimberley Reid , Robert Spaull , Pascal Joset , Georgia Ramantani , Katharina Steindl , Martin Krenn , Lucia Gerstl , Silvia Vieker , Dana Craiu , Manuela Pendziwiat , Chad Haldeman-Englert , Ilya Kanivets , Irina Romanova , Deepa S Rajan , Jill A Rosenfeld , Margaret Au , Katheryn Grand , John M , Arnaud Isapof , Nathalie Villeneuve , Thomas Smol , Roseline Caumes , Pia Zacher , Sonja Neuser , Sigrid Tinschert , Konrad Platzer , Tobias Bartolomaeus , Ines Mohnke , Maximilian Radtke , Rami Abou Jamra , Ingo Helbig , Floortje E Jansen , Klaas Koop , Gabrielle Rudolf , Sebastien Küry , Julien Courchet , Renzo Guerrini , Gaetan Lesca

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.

American journal of human genetics
Avec: Alban Ziegler , Katharina Steindl , Ashleigh S Hanner , Rajesh Kumar Kar , Clément Prouteau , Anne Boland , Jean Francois Deleuze , Christine Coubes , Stéphane Bézieau , Sébastien Küry , Isabelle Maystadt , Morgane Le Mao , Guy Lenaers , Benjamin Navet , Laurence Faivre , Frédéric Tran Mau-Them , Paolo Zanoni , Wendy K Chung , Anita Rauch , Dominique Bonneau , Myung Hee Park

Separating the effects of early and later life adiposity on colorectal cancer risk: a Mendelian randomization study.

BMC medicine
Avec: Nikos Papadimitriou , Caroline J Bull , Mazda Jenab , David J Hughes , Joshua A Bell , Eleanor Sanderson , Nicholas J Timpson , George Davey Smith , Demetrius Albanes , Peter T Campbell , Sébastien Küry , Loic Le Marchand , Cornelia M Ulrich , Kala Visvanathan , Jane C Figueiredo , Polly A Newcomb , Rish K Pai , Ulrike Peters , Kostas K Tsilidis , Jolanda M A Boer , Emma E Vincent , Daniela Mariosa , Marc J Gunter , Tom G Richardson , Neil Murphy

Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity.

medRxiv : the preprint server for health sciences
Avec: Minta Thomas , Yu-Ru Su , Elisabeth A Rosenthal , Lori C Sakoda , Stephanie L Schmit , Maria N Timofeeva , Zhishan Chen , Ceres Fernandez-Rozadilla , Philip J Law , Neil Murphy , Robert Carreras-Torres , Virginia Diez-Obrero , Franzel Jb van Duijnhoven , Shangqing Jiang , Aesun Shin , Alicja Wolk , Amanda I Phipps , Andrea Burnett-Hartman , Andrea Gsur , Andrew T Chan , Ann G Zauber , Anna H Wu , Annika Lindblom , Caroline Y Um , Catherine M Tangen , Chris Gignoux , Christina Newton , Christopher A Haiman , Conghui Qu , D Timothy Bishop , Daniel D Buchanan , David R Crosslin , David V Conti , Dong-Hyun Kim , Elizabeth Hauser , Emily White , Erin Siegel , Fredrick R Schumacher , Gad Rennert , Graham G Giles , Heather Hampel , Hermann Brenner , Isao Oze , Jae Hwan Oh , Jeffrey K Lee , Jennifer L Schneider , Jenny Chang-Claude , Jeongseon Kim , Jeroen R Huyghe , Jiayin Zheng , Jochen Hampe , Joel Greenson , John L Hopper , Julie R Palmer , Kala Visvanathan , Keitaro Matsuo , Koichi Matsuda , Keum Ji Jung , Li Li , Loic Le Marchand , Ludmila Vodickova , Luis Bujanda , Marc J Gunter , Marco Matejcic , Mark A Jenkins , Martha L Slattery , Mauro D'Amato , Meilin Wang , Michael Hoffmeister , Michael O Woods , Michelle Kim , Mingyang Song , Motoki Iwasaki , Mulong Du , Natalia Udaltsova , Norie Sawada , Pavel Vodicka , Peter T Campbell , Polly A Newcomb , Qiuyin Cai , Rachel Pearlman , Rish K Pai , Robert E Schoen , Robert S Steinfelder , Robert W Haile , Rosita Vandenputtelaar , Ross L Prentice , Sébastien Küry , Sergi Castellví-Bel , Shoichiro Tsugane , Sonja I Berndt , Soo Chin Lee , Stefanie Brezina , Stephanie J Weinstein , Stephen J Chanock , Sun Ha Jee , Sun-Seog Kweon , Susan Vadaparampil , Tabitha A Harrison , Taiki Yamaji , Temitope O Keku , Veronika Vymetalkova , Volker Arndt , Wei-Hua Jia , Xiao-Ou Shu , Yi Lin , Yoon-Ok Ahn , Zsofia K Stadler , Bethany Van Guelpen , Cornelia M Ulrich , Elizabeth A Platz , John D Potter , Christopher I Li , Reinier Meester , Victor Moreno , Jane C Figueiredo , Graham Casey , Iris Landorp Vogelaar , Malcolm G Dunlop , Stephen B Gruber , Richard B Hayes , Paul D P Pharoah , Richard S Houlston , Gail P Jarvik , Ian P Tomlinson , Wei Zheng , Douglas A Corley , Ulrike Peters , Li Hsu

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Science translational medicine
Avec: Frédéric Ebstein , Sébastien Küry , Victoria Most , Cory Rosenfelt , Marie-Pier Scott-Boyer , Geeske M van Woerden , Thomas Besnard , Jonas Johannes Papendorf , Maja Studencka-Turski , Tianyun Wang , Tzung-Chien Hsieh , Richard Golnik , Dustin Baldridge , Cara Forster , Charlotte de Konink , Selina M W Teurlings , Virginie Vignard , Richard H van Jaarsveld , Lesley Ades , Benjamin Cogné , Cyril Mignot , Wallid Deb , Marjolijn C J Jongmans , F Sessions Cole , Marie-José H van den Boogaard , Jennifer A Wambach , Daniel J Wegner , Sandra Yang , Vickie Hannig , Jennifer Ann Brault , Neda Zadeh , Bruce Bennetts , Boris Keren , Anne-Claire Gélineau , Zöe Powis , Meghan Towne , Kristine Bachman , Andrea Seeley , Anita E Beck , Jennifer Morrison , Rachel Westman , Kelly Averill , Theresa Brunet , Judith Haasters , Melissa T Carter , Matthew Osmond , Patricia G Wheeler , Francesca Forzano , Shehla Mohammed , Yannis Trakadis , Andrea Accogli , Rachel Harrison , Yiran Guo , Hakon Hakonarson , Sophie Rondeau , Geneviève Baujat , Giulia Barcia , René Günther Feichtinger , Johannes Adalbert Mayr , Martin Preisel , Frédéric Laumonnier , Tilmann Kallinich , Alexej Knaus , Bertrand Isidor , Peter Krawitz , Uwe Völker , Elke Hammer , Arnaud Droit , Evan E Eichler , Ype Elgersma , Peter W Hildebrand , François Bolduc , Elke Krüger , Stéphane Bézieau

GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.

medRxiv : the preprint server for health sciences
Avec: Hellen Lesmann , Alexander Hustinx , Shahida Moosa , Elaine Marchi , Pilar Caro , Ibrahim M Abdelrazek , Jean Tori Pantel , Hannah Klinkhammer , Merle Ten Hagen , Tom Kamphans , Wolfgang Meiswinkel , Jing-Mei Li , Behnam Javanmardi , Alexej Knaus , Annette Uwineza , Cordula Knopp , Tinatin Tkemaladze , Miriam Elbracht , Larissa Mattern , Rami Abou Jamra , Clara Velmans , Vincent Strehlow , Himanshu Goel , Beatriz Carvalho Nunes , Thainá Vilella , Isabel Furquim Pinheiro , Chong Ae Kim , Maria Isabel Melaragno , Tahsin Stefan Barakat , Amira Nabil , Julia Suh , Luisa Averdunk , Ekanem Ekure , Claudio Graziano , Prasit Phowthongkum , Nergis Güzel , Tobias B Haack , Theresa Brunet , Sabine Rudnik-Schöneborn , Konrad Platzer , Artem Borovikov , Franziska Schnabel , Lara Heuft , Vera Herrmann , Antonio F Martinez-Monseny , Matthias Höller , Khoshoua Alaaeldin , Aleksandra Jezela-Stanek , Amal Mohamed , Amaia Lasa-Aranzasti , John A Sayer , Ping Hu , Suzanna E Ledgister Hanchard , Gehad Elmakkawy , Sylvia Safwat , Frédéric Ebstein , Elke Krüger , Sébastien Küry , Annabelle Arlt , Felix Marbach , Christian Netzer , Sophia Kaptain , Hannah Weiland , Dong Li , Lucie Dupuis , Roberto Mendoza-Londono , Sofia Douzgou Houge , Denisa Weis , Brian Hon-Yin Chung , Christopher C Y Mak , Koen Devriendt , Karen W Gripp , Martin Mücke , Alain Verloes , Christian P Schaaf , Christoffer Nellåker , Benjamin D Solomon , Rebekah L Waikel , Markus M Nöthen , Ebtesam Abdalla , Gholson J Lyon , Peter M Krawitz , Tzung-Chien Hsieh

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Frédéric Ebstein , Xenia Latypova , Ka Ying Sharon Hung , Miguel A Prado , Byung-Hoon Lee , Sophie Möller , Martin Wendlandt , Barbara A Zieba , Laëtitia Florenceau , Virginie Vignard , Léa Poirier , Bérénice Toutain , Isabella Moroni , Charlotte Dubucs , Nicolas Chassaing , Judit Horvath , Holger Prokisch , Sébastien Küry , Stéphane Bézieau , Joao A Paulo , Daniel Finley , Elke Krüger , Daniele Ghezzi , Bertrand Isidor

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

American journal of human genetics
Avec: Wallid Deb , Cory Rosenfelt , Virginie Vignard , Jonas Johannes Papendorf , Sophie Möller , Martin Wendlandt , Maja Studencka-Turski , Benjamin Cogné , Thomas Besnard , Léa Ruffier , Bérénice Toutain , Léa Poirier , Silvestre Cuinat , Amy Kritzer , Amy Crunk , Janette diMonda , Jaime Vengoechea , Sandra Mercier , Lotte Kleinendorst , Mieke M van Haelst , Linda Zuurbier , Telma Sulem , Hildigunnur Katrínardóttir , Rún Friðriksdóttir , Patrick Sulem , Kari Stefansson , Berglind Jonsdottir , Shimriet Zeidler , Margje Sinnema , Alexander P A Stegmann , Natali Naveh , Cara M Skraban , Christopher Gray , Jill R Murrell , Sedat Isikay , Davut Pehlivan , Daniel G Calame , Jennifer E Posey , Mathilde Nizon , Kirsty McWalter , James R Lupski , Bertrand Isidor , François V Bolduc , Stéphane Bézieau , Elke Krüger , Sébastien Küry , Frédéric Ebstein

Réseau de co-auteurs

Stéphane Bézieau 31 collaborations
Bertrand Isidor 29 collaborations
Benjamin Cogné 16 collaborations
Jill A Rosenfeld 16 collaborations
Frédéric Ebstein 15 collaborations
Thomas Besnard 12 collaborations
Wallid Deb 12 collaborations
Virginie Vignard 12 collaborations
Elke Krüger 12 collaborations
Peter T Campbell 11 collaborations
Cornelia M Ulrich 10 collaborations
Emily White 10 collaborations
Loic Le Marchand 10 collaborations
Ulrike Peters 10 collaborations
Boris Keren 10 collaborations
Marie Vincent 9 collaborations
Dominique Bonneau 9 collaborations
Stephanie L Schmit 9 collaborations
Tabitha A Harrison 9 collaborations
Jeroen R Huyghe 9 collaborations
Demetrius Albanes 9 collaborations
Sonja I Berndt 9 collaborations
Hermann Brenner 9 collaborations
Daniel D Buchanan 9 collaborations
Andrew T Chan 9 collaborations
Jenny Chang-Claude 9 collaborations
Michael Hoffmeister 9 collaborations
Christopher I Li 9 collaborations
Li Li 9 collaborations
Polly A Newcomb 9 collaborations
John D Potter 9 collaborations
Gad Rennert 9 collaborations
Victor Moreno 9 collaborations
Li Hsu 9 collaborations
David V Conti 9 collaborations
Stephen B Gruber 9 collaborations
Marc J Gunter 9 collaborations
None None 8 collaborations
Graham G Giles 8 collaborations
Jochen Hampe 8 collaborations
Mark A Jenkins 8 collaborations
Neil Murphy 8 collaborations
Conghui Qu 8 collaborations
Martha L Slattery 8 collaborations
Stephanie J Weinstein 8 collaborations
Alicja Wolk 8 collaborations
Anna H Wu 8 collaborations
Annika Lindblom 8 collaborations
Graham Casey 8 collaborations
Yu-Ru Su 8 collaborations
Michael O Woods 8 collaborations
Tzung-Chien Hsieh 8 collaborations
Sandra Mercier 8 collaborations
Kirsty McWalter 7 collaborations
Evan E Eichler 7 collaborations
Laurence Faivre 7 collaborations
John L Hopper 7 collaborations
Kala Visvanathan 7 collaborations
Bethany Van Guelpen 7 collaborations
Eric W Klee 6 collaborations
Ingrid M Wentzensen 6 collaborations
Richard Redon 6 collaborations
Fredrick R Schumacher 6 collaborations
Stefanie Brezina 6 collaborations
Stephen J Chanock 6 collaborations
Douglas F Easton 6 collaborations
Edith J M Feskens 6 collaborations
Andrea Gsur 6 collaborations
Richard B Hayes 6 collaborations
Thomas J Hudson 6 collaborations
Yi Lin 6 collaborations
Noralane M Lindor 6 collaborations
Kenneth Offit 6 collaborations
Clemens Schafmayer 6 collaborations
Robert E Schoen 6 collaborations
Antonia Trichopoulou 6 collaborations
Jane C Figueiredo 6 collaborations
Wei Zheng 6 collaborations
Stephanie A Bien 6 collaborations
Temitope O Keku 6 collaborations
D Timothy Bishop 6 collaborations
Elizabeth A Platz 6 collaborations
Theresa Brunet 6 collaborations
Rami Abou Jamra 6 collaborations
Anita Rauch 6 collaborations
Wendy K Chung 5 collaborations
James R Lupski 5 collaborations
Patrick R Blackburn 5 collaborations
Jennifer E Posey 5 collaborations
Erin Torti 5 collaborations
Volker Arndt 5 collaborations
Bette J Caan 5 collaborations
Eric J Jacobs 5 collaborations
Amit D Joshi 5 collaborations
Flavio Lejbkowicz 5 collaborations
Pankaj B Agrawal 5 collaborations
Lori C Sakoda 5 collaborations
Rachel Pearlman 5 collaborations
Sergi Castellví-Bel 5 collaborations
Pavel Vodicka 5 collaborations
Tilman Kühn 5 collaborations
Roger L Milne 5 collaborations
Catherine M Tangen 5 collaborations
Ludmila Vodickova 5 collaborations
Heather Hampel 5 collaborations
Gaetan Lesca 5 collaborations
Mathilde Nizon 5 collaborations
Hannah Klinkhammer 5 collaborations
Cyril Mignot 5 collaborations
Alban Ziegler 5 collaborations
Tianyun Wang 5 collaborations
Tjitske Kleefstra 5 collaborations
Andrea Burnett-Hartman 5 collaborations
Rolph Pfundt 4 collaborations
Annick Toutain 4 collaborations
Sylvie Odent 4 collaborations
Pavel N Pichurin 4 collaborations
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