Benjamin Cogne

Affiliations
  • CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • l'Institut du Thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.

Publications (28)

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Erin Torti , Boris Keren , Elizabeth E Palmer , Zehua Zhu , Alexandra Afenjar , Ilse J Anderson , Marisa V Andrews , Celia Atkinson , Margaret Au , Susan A Berry , Kevin M Bowling , Jackie Boyle , Julien Buratti , Sara S Cathey , Perrine Charles , Benjamin Cogne , Thomas Courtin , Luis F Escobar , Sabra Ledare Finley , John M Graham , Dorothy K Grange , Delphine Heron , Stacy Hewson , Susan M Hiatt , Kathleen A Hibbs , Parul Jayakar , Louisa Kalsner , Lise Larcher , Gaetan Lesca , Paul R Mark , Kathryn Miller , Caroline Nava , Mathilde Nizon , G Shashidhar Pai , John Pappas , Gretchen Parsons , Katelyn Payne , Audrey Putoux , Rachel Rabin , Isabelle Sabatier , Marwan Shinawi , Natasha Shur , Steven A Skinner , Stephanie Valence , Hannah Warren , Sandra Whalen , Amy Crunk , Ganka Douglas , Kristin G Monaghan , Richard E Person , Rebecca Willaert , Benjamin D Solomon , Jane Juusola

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Joanna Kennedy , David Goudie , Edward Blair , Kate Chandler , Shelagh Joss , Victoria McKay , Andrew Green , Ruth Armstrong , Melissa Lees , Benjamin Kamien , Bruce Hopper , Tiong Yang Tan , Patrick Yap , Zornitza Stark , Nobuhiko Okamoto , Noriko Miyake , Naomichi Matsumoto , Ellen Macnamara , Jennifer L Murphy , Elizabeth McCormick , Hakon Hakonarson , Marni J Falk , Dong Li , Patrick Blackburn , Eric Klee , Dusica Babovic-Vuksanovic , Susan Schelley , Louanne Hudgins , Sarina Kant , Bertrand Isidor , Benjamin Cogne , Kimberley Bradbury , Mark Williams , Chirag Patel , Helen Heussler , Celia Duff-Farrier , Phillis Lakeman , Ingrid Scurr , Usha Kini , Mariet Elting , Margot Reijnders , Janneke Schuurs-Hoeijmakers , Mohamed Wafik , Anne Blomhoff , Claudia A L Ruivenkamp , Esther Nibbeling , Alexander J M Dingemans , Emilie D Douine , Stanley F Nelson , Auteur inconnu , Maja Hempel , Tatjana Bierhals , Davor Lessel , Jessika Johannsen , Valerie A Arboleda , Ruth Newbury-Ecob

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

American journal of medical genetics. Part A
Avec: Schaida Schirwani , Shadi Albaba , Deanna Alexis Carere , Maria J Guillen Sacoto , Francisca Milan Zamora , Yue Si , Rachel Rabin , John Pappas , Deborah L Renaud , Natalie Hauser , Evan Reid , Patricia Blanchet , Nichola Foulds , Abhijit Dixit , Richard Fisher , Ruth Armstrong , Bertrand Isidor , Benjamin Cogne , Samantha Schrier Vergano , Serwet Demirdas , Natalie Dykzeul , Julie S Cohen , Katheryn Grand , Dayna Morel , Anne Slavotinek , Hessa F Albassam , Swati Naik , John Dean , Nicola Ragge , Cinzia Costa , Maria Giovanna Tedesco , Rachel E Harrison , Arjan Bouman , Emily Palen , Thomas D Challman , Marjolein H Willemsen , Julie Vogt , Christopher Cunniff , Katherine Bergstrom , Jagdeep S Walia , Ange-Line Bruel , Usha Kini , Fowzan S Alkuraya , Valerie Slegesky , Naomi Meeks , Paula Girotto , Diana Johnson , Auteur inconnu , Ruth Newbury-Ecob , Charlotte W Ockeloen , Paolo Prontera , Sally Ann Lynch , Dong Li , John M Graham , Tyler Mark Pierson , Meena Balasubramanian

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sayaka Kayumi , Luis A Pérez-Jurado , María Palomares , Sneha Rangu , Sarah E Sheppard , Wendy K Chung , Michael C Kruer , Mira Kharbanda , David J Amor , George McGillivray , Julie S Cohen , Sixto García-Miñaúr , Clare L van Eyk , Kelly Harper , Lachlan A Jolly , Dani L Webber , Christopher P Barnett , Fernando Santos-Simarro , Marta Pacio-Míguez , Angela Del Pozo , Somayeh Bakhtiari , Matthew Deardorff , Holly A Dubbs , Kosuke Izumi , Katheryn Grand , Christopher Gray , Paul R Mark , Elizabeth J Bhoj , Dong Li , Xilma R Ortiz-Gonzalez , Beth Keena , Elaine H Zackai , Ethan M Goldberg , Guiomar Perez de Nanclares , Arrate Pereda , Isabel Llano-Rivas , Ignacio Arroyo , María Ángeles Fernández-Cuesta , Christel Thauvin-Robinet , Laurence Faivre , Aurore Garde , Benoit Mazel , Ange-Line Bruel , Michael L Tress , Eva Brilstra , Amena Smith Fine , Kylie E Crompton , Alexander P A Stegmann , Margje Sinnema , Servi C J Stevens , Joost Nicolai , Gaetan Lesca , Laurence Lion-François , Damien Haye , Nicolas Chatron , Amelie Piton , Mathilde Nizon , Benjamin Cogne , Siddharth Srivastava , Jennifer Bassetti , Candace Muss , Karen W Gripp , Rebecca A Procopio , Francisca Millan , Michelle M Morrow , Melissa Assaf , Andres Moreno-De-Luca , Shelagh Joss , Mark J Hamilton , Marta Bertoli , Nicola Foulds , Shane McKee , Alastair H MacLennan , Jozef Gecz , Mark A Corbett

De novo KCNA6 variants with attenuated K

Epilepsia
Avec: Vincenzo Salpietro , Valentina Galassi Deforie , Stephanie Efthymiou , Emer O'Connor , Anna Marcé-Grau , Reza Maroofian , Pasquale Striano , Federico Zara , Michelle M Morrow , Auteur inconnu , Adi Reich , Amy Blevins , Júlia Sala-Coromina , Andrea Accogli , Sara Fortuna , Marie Alesandrini , P Y Billie Au , Nilika Shah Singhal , Benjamin Cogne , Bertrand Isidor , Michael G Hanna , Alfons Macaya , Dimitri M Kullmann , Henry Houlden , Roope Männikkö

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Human genetics
Avec: Juliette Coursimault , Anne-Marie Guerrot , Michelle M Morrow , Catherine Schramm , Francisca Millan Zamora , Anita Shanmugham , Shuxi Liu , Fanggeng Zou , Frédéric Bilan , Gwenaël Le Guyader , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Laurence Faivre , Frédéric Tran Mau-Them , Marine Tessarech , Estelle Colin , Salima El Chehadeh , Bénédicte Gérard , Elise Schaefer , Benjamin Cogne , Bertrand Isidor , Mathilde Nizon , Diane Doummar , Stéphanie Valence , Delphine Héron , Boris Keren , Cyril Mignot , Charles Coutton , Françoise Devillard , Anne-Sophie Alaix , Jeanne Amiel , Laurence Colleaux , Arnold Munnich , Karine Poirier , Marlène Rio , Sophie Rondeau , Giulia Barcia , Bert Callewaert , Annelies Dheedene , Candy Kumps , Sarah Vergult , Björn Menten , Wendy K Chung , Rebecca Hernan , Austin Larson , Kelly Nori , Sarah Stewart , James Wheless , Christina Kresge , Beth A Pletcher , Roseline Caumes , Thomas Smol , Sabine Sigaudy , Christine Coubes , Margaret Helm , Rosemarie Smith , Jennifer Morrison , Patricia G Wheeler , Amy Kritzer , Guillaume Jouret , Alexandra Afenjar , Jean-François Deleuze , Robert Olaso , Anne Boland , Christine Poitou , Thierry Frebourg , Claude Houdayer , Pascale Saugier-Veber , Gaël Nicolas , François Lecoquierre

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Nature genetics
Avec: Margot A Cousin , Blake A Creighton , Keith A Breau , Rebecca C Spillmann , Erin Torti , Sruthi Dontu , Swarnendu Tripathi , Deepa Ajit , Reginald J Edwards , Simone Afriyie , Julia C Bay , Kathryn M Harper , Alvaro A Beltran , Lorena J Munoz , Liset Falcon Rodriguez , Michael C Stankewich , Richard E Person , Yue Si , Elizabeth A Normand , Amy Blevins , Alison S May , Louise Bier , Vimla Aggarwal , Grazia M S Mancini , Marjon A van Slegtenhorst , Kirsten Cremer , Jessica Becker , Hartmut Engels , Stefan Aretz , Jennifer J MacKenzie , Eva Brilstra , Koen L I van Gassen , Richard H van Jaarsveld , Renske Oegema , Gretchen M Parsons , Paul Mark , Ingo Helbig , Sarah E McKeown , Robert Stratton , Benjamin Cogne , Bertrand Isidor , Pilar Cacheiro , Damian Smedley , Helen V Firth , Tatjana Bierhals , Katja Kloth , Deike Weiss , Cecilia Fairley , Joseph T Shieh , Amy Kritzer , Parul Jayakar , Evangeline Kurtz-Nelson , Raphael A Bernier , Tianyun Wang , Evan E Eichler , Ingrid M B H van de Laar , Allyn McConkie-Rosell , Marie T McDonald , Jennifer Kemppainen , Brendan C Lanpher , Laura E Schultz-Rogers , Lauren B Gunderson , Pavel N Pichurin , Grace Yoon , Michael Zech , Robert Jech , Juliane Winkelmann , Auteur inconnu , Auteur inconnu , Adriana S Beltran , Michael T Zimmermann , Brenda Temple , Sheryl S Moy , Eric W Klee , Queenie K-G Tan , Damaris N Lorenzo

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Clinical genetics
Avec: Hussam Al-Kateb , P Y Billie Au , Siren Berland , Benjamin Cogne , Florence Demurger , Joel Fluss , Bertrand Isidor , L Matthew Frank , Konstantinos Varvagiannis , David A Koolen , Marie McDonald , Sarah Montgomery , Stéphanie Moortgat , Marie Deprez , Deniz Karadurmus , Julie Paulsen , André Reis , Melissa Rieger , Georgia Vasileiou , Marcia Willing , Marwan Shinawi

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Brain : a journal of neurology
Avec: Berardo Rinaldi , Allan Bayat , Linda G Zachariassen , Jia-Hui Sun , Yu-Han Ge , Dan Zhao , Kristine Bonde , Laura H Madsen , Ilham Abdimunim Ali Awad , Duygu Bagiran , Amal Sbeih , Syeda Maidah Shah , Shaymaa El-Sayed , Signe M Lyngby , Miriam G Pedersen , Charlotte Stenum-Berg , Louise Claudia Walker , Ilona Krey , Andrée Delahaye-Duriez , Lisa T Emrick , Krystal Sully , Chaya N Murali , Lindsay C Burrage , Julie Ana Plaud Gonzalez , Mered Parnes , Jennifer Friedman , Bertrand Isidor , Jérémie Lefranc , Sylvia Redon , Delphine Heron , Cyril Mignot , Boris Keren , Mélanie Fradin , Christele Dubourg , Sandra Mercier , Thomas Besnard , Benjamin Cogne , Wallid Deb , Clotilde Rivier , Donatella Milani , Maria Francesca Bedeschi , Claudia Di Napoli , Federico Grilli , Paola Marchisio , Suzanna Koudijs , Danielle Veenma , Emanuela Argilli , Sally Ann Lynch , Ping Yee Billie Au , Fernando Eduardo Ayala Valenzuela , Carolyn Brown , Diane Masser-Frye , Marilyn Jones , Leslie Patron Romero , Wenhui Laura Li , Erin Thorpe , Laura Hecher , Jessika Johannsen , Jonas Denecke , Vanda McNiven , Anna Szuto , Emma Wakeling , Vincent Cruz , Valerie Sency , Heng Wang , Juliette Piard , Fanny Kortüm , Theresia Herget , Tatjana Bierhals , Angelo Condell , Bruria Ben Zeev , Simranpreet Kaur , John Christodoulou , Amelie Piton , Christiane Zweier , Cornelia Kraus , Alessia Micalizzi , Marina Trivisano , Nicola Specchio , Gaetan Lesca , Rikke S Møller , Zeynep Tümer , Maria Musgaard , Benedicte Gerard , Johannes R Lemke , Yun Stone Shi , Anders S Kristensen

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

American journal of human genetics
Avec: Cedric Le Caignec , Benjamin Ory , François Lamoureux , Marie-Francoise O'Donohue , Emilien Orgebin , Pierre Lindenbaum , Stéphane Téletchéa , Manon Saby , Anna Hurst , Katherine Nelson , Shawn R Gilbert , Yael Wilnai , Leonid Zeitlin , Eitan Segev , Robel Tesfaye , Mathilde Nizon , Benjamin Cogne , Stéphane Bezieau , Loic Geoffroy , Antoine Hamel , Emmanuelle Mayrargue , Benoît de Courtivron , Aliette Decock-Giraudaud , Céline Charrier , Olivier Pichon , Christelle Retière , Richard Redon , Alexander Pepler , Kirsty McWalter , Lydie Da Costa , Annick Toutain , Pierre-Emmanuel Gleizes , Marc Baud'huin , Bertrand Isidor

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Joanna Kennedy , David Goudie , Edward Blair , Kate Chandler , Shelagh Joss , Victoria McKay , Andrew Green , Ruth Armstrong , Melissa Lees , Benjamin Kamien , Bruce Hopper , Tiong Yang Tan , Patrick Yap , Zornitza Stark , Nobuhiko Okamoto , Noriko Miyake , Naomichi Matsumoto , Ellen Macnamara , Jennifer L Murphy , Elizabeth McCormick , Hakon Hakonarson , Marni J Falk , Dong Li , Patrick Blackburn , Eric Klee , Dusica Babovic-Vuksanovic , Susan Schelley , Louanne Hudgins , Sarina Kant , Bertrand Isidor , Benjamin Cogne , Kimberley Bradbury , Mark Williams , Chirag Patel , Helen Heussler , Celia Duff-Farrier , Phillis Lakeman , Ingrid Scurr , Usha Kini , Mariet Elting , Margot Reijnders , Janneke Schuurs-Hoeijmakers , Mohamed Wafik , Anne Blomhoff , Claudia A L Ruivenkamp , Esther Nibbeling , Alexander J M Dingemans , Emilie D Douine , Stanley F Nelson , Auteur inconnu , Maja Hempel , Tatjana Bierhals , Davor Lessel , Jessika Johannsen , Valerie A Arboleda , Ruth Newbury-Ecob

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Genome medicine
Avec: Margot A Cousin , Emma L Veale , Nikita R Dsouza , Swarnendu Tripathi , Robyn G Holden , Maria Arelin , Geoffrey Beek , Mir Reza Bekheirnia , Jasmin Beygo , Vikas Bhambhani , Martin Bialer , Stefania Bigoni , Cyrus Boelman , Jenny Carmichael , Thomas Courtin , Benjamin Cogne , Ivana Dabaj , Diane Doummar , Laura Fazilleau , Alessandra Ferlini , Ralitza H Gavrilova , John M Graham , Tobias B Haack , Jane Juusola , Sarina G Kant , Saima Kayani , Boris Keren , Petra Ketteler , Chiara Klöckner , Tamara T Koopmann , Teresa M Kruisselbrink , Alma Kuechler , Laëtitia Lambert , Xénia Latypova , Robert Roger Lebel , Magalie S Leduc , Emanuela Leonardi , Andrea M Lewis , Wendy Liew , Keren Machol , Samir Mardini , Kirsty McWalter , Cyril Mignot , Julie McLaughlin , Alessandra Murgia , Vinodh Narayanan , Caroline Nava , Sonja Neuser , Mathilde Nizon , Davide Ognibene , Joohyun Park , Konrad Platzer , Céline Poirsier , Maximilian Radtke , Keri Ramsey , Cassandra K Runke , Maria J Guillen Sacoto , Fernando Scaglia , Marwan Shinawi , Stephanie Spranger , Ee Shien Tan , John Taylor , Anne-Sophie Trentesaux , Filippo Vairo , Rebecca Willaert , Neda Zadeh , Raul Urrutia , Dusica Babovic-Vuksanovic , Michael T Zimmermann , Alistair Mathie , Eric W Klee

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Brain : a journal of neurology
Avec: Birk Möller , Lena-Luise Becker , Afshin Saffari , Alexandra Afenjar , Emanuele G Coci , Rachel Williamson , Catherine Ward-Melver , Marc Gibaud , Lucie Sedláčková , Petra Laššuthová , Zuzana Libá , Markéta Vlčková , Nancy William , Eric W Klee , Ralitza H Gavrilova , Jonathan Lévy , Yline Capri , Mena Scavina , Robert Walter Körner , Zaheer Valuvullah , Claudia Weiß , Greta Marit Möller , Moritz Thiel , Margje Sinnema , Erik-Jan Kamsteeg , Sandra Donkervoort , Veronique Duboc , Khaoula Zaafrane-Khachnaoui , Nour Elkhateeb , Laila Selim , Henri Margot , Victor Marin , Claire Beneteau , Bertrand Isidor , Benjamin Cogne , Boris Keren , Benno Küsters , Alan H Beggs , Casie A Genetti , Joost Nicolai , Jörg Dötsch , Anne Koy , Carsten G Bönnemann , Maja von der Hagen , Jürgen-Christoph von Kleist-Retzow , Nicol Voermans , Heinz Jungbluth , Hormos Salimi Dafsari

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elisabeth Bosch , Bernt Popp , Esther Güse , Cindy Skinner , Pleuntje J van der Sluijs , Isabelle Maystadt , Anna Maria Pinto , Alessandra Renieri , Lucia Pia Bruno , Stefania Granata , Carlo Marcelis , Özlem Baysal , Dewi Hartwich , Laura Holthöfer , Bertrand Isidor , Benjamin Cogne , Dagmar Wieczorek , Valeria Capra , Marcello Scala , Patrizia De Marco , Marzia Ognibene , Rami Abou Jamra , Konrad Platzer , Lauren B Carter , Outi Kuismin , Arie van Haeringen , Reza Maroofian , Irene Valenzuela , Ivon Cuscó , Julian A Martinez-Agosto , Ahna M Rabani , Heather C Mefford , Elaine M Pereira , Charlotte Close , Kwame Anyane-Yeboa , Mallory Wagner , Mark C Hannibal , Pia Zacher , Isabelle Thiffault , Gea Beunders , Muhammad Umair , Priya T Bhola , Erin McGinnis , John Millichap , Jiddeke M van de Kamp , Eloise J Prijoles , Amy Dobson , Amelle Shillington , Brett H Graham , Evan-Jacob Garcia , Maureen Kelly Galindo , Fabienne G Ropers , Esther A R Nibbeling , Gail Hubbard , Catherine Karimov , Guido Goj , Renee Bend , Julie Rath , Michelle M Morrow , Francisca Millan , Vincenzo Salpietro , Annalaura Torella , Vincenzo Nigro , Mitja Kurki , Roger E Stevenson , Gijs W E Santen , Markus Zweier , Philippe M Campeau , Mariasavina Severino , André Reis , Andrea Accogli , Georgia Vasileiou

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Human genetics
Avec: Charlotte Herbst , Viktoria Bothe , Meret Wegler , Susanne Axer-Schaefer , Séverine Audebert-Bellanger , Jozef Gecz , Benjamin Cogne , Hagit Baris Feldman , Anselm H C Horn , Anna C E Hurst , Melissa A Kelly , Michael C Kruer , Alina Kurolap , Annie Laquerriere , Megan Li , Paul R Mark , Markus Morawski , Mathilde Nizon , Tomi Pastinen , Tilman Polster , Pascale Saugier-Veber , Jang SeSong , Heinrich Sticht , Jens T Stieler , Isabelle Thifffault , Clare L van Eyk , Pascale Marcorelles , Myriam Vezain-Mouchard , Rami Abou Jamra , Henry Oppermann

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

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Auriane Cospain , Ana Rivera-Barahona , Erwan Dumontet , Blanca Gener , Isabelle Bailleul-Forestier , Isabelle Meyts , Guillaume Jouret , Bertrand Isidor , Carole Brewer , Wim Wuyts , Leen Moens , Selket Delafontaine , Wayne Wing Keung Lam , Kris Van Den Bogaert , Anneleen Boogaerts , Emmanuel Scalais , Thomas Besnard , Benjamin Cogne , Christophe Guissard , Paul Rollier , Wilfrid Carre , Regis Bouvet , Karin Tarte , Ricardo Gómez-Carmona , Pablo Lapunzina , Sylvie Odent , Marie Faoucher , Christele Dubourg , Víctor L Ruiz-Pérez , Koen Devriendt , Laurent Pasquier , Luis A Pérez-Jurado

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Heba Morsy , Mehdi Benkirane , Elisa Cali , Clarissa Rocca , Kristina Zhelcheska , Valentina Cipriani , Evangelia Galanaki , Reza Maroofian , Stephanie Efthymiou , David Murphy , Mary O'Driscoll , Mohnish Suri , Siddharth Banka , Jill Clayton-Smith , Thomas Wright , Melody Redman , Jennifer A Bassetti , Mathilde Nizon , Benjamin Cogne , Rami Abu Jamra , Tobias Bartolomaeus , Marion Heruth , Ilona Krey , Janina Gburek-Augustat , Dagmar Wieczorek , Felix Gattermann , Meriel Mcentagart , Alice Goldenberg , Lucie Guyant-Marechal , Hector Garcia-Moreno , Paola Giunti , Brigitte Chabrol , Severine Bacrot , Roger Buissonnière , Virginie Magry , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Béla Melegh , András Szabó , Katalin Sümegi , Mireille Cossée , Monica Ziff , Russell Butterfield , David Hunt , Georgina Bird-Lieberman , Michael Hanna , Michel Koenig , Michael Stankewich , Jana Vandrovcova , Henry Houlden , Auteur inconnu

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Science advances
Avec: Sarah E Sheppard , Laura Bryant , Rochelle N Wickramasekara , Courtney Vaccaro , Brynn Robertson , Jodi Hallgren , Jason Hulen , Cynthia J Watson , Victor Faundes , Yannis Duffourd , Pearl Lee , M Celeste Simon , Xavier de la Cruz , Natália Padilla , Marco Flores-Mendez , Naiara Akizu , Jacqueline Smiler , Renata Pellegrino Da Silva , Dong Li , Michael March , Abdias Diaz-Rosado , Isabella Peixoto de Barcelos , Zhao Xiang Choa , Chin Yan Lim , Christèle Dubourg , Hubert Journel , Florence Demurger , Maureen Mulhern , Cigdem Akman , Natalie Lippa , Marisa Andrews , Dustin Baldridge , John Constantino , Arie van Haeringen , Irina Snoeck-Streef , Penny Chow , Anne Hing , John M Graham , Margaret Au , Laurence Faivre , Wei Shen , Rong Mao , Janice Palumbos , David Viskochil , William Gahl , Cynthia Tifft , Ellen Macnamara , Natalie Hauser , Rebecca Miller , Jessica Maffeo , Alexandra Afenjar , Diane Doummar , Boris Keren , Pamela Arn , Sarah Macklin-Mantia , Ilse Meerschaut , Bert Callewaert , André Reis , Christiane Zweier , Carole Brewer , Anand Saggar , Marie F Smeland , Ajith Kumar , Frances Elmslie , Charu Deshpande , Mathilde Nizon , Benjamin Cogne , Yvette van Ierland , Martina Wilke , Marjon van Slegtenhorst , Suzanne Koudijs , Jin Yun Chen , David Dredge , Danielle Pier , Saskia Wortmann , Erik-Jan Kamsteeg , Johannes Koch , Devon Haynes , Lynda Pollack , Hannah Titheradge , Kara Ranguin , Anne-Sophie Denommé-Pichon , Sacha Weber , Rubén Pérez de la Fuente , Jaime Sánchez Del Pozo , Jose Miguel Lezana Rosales , Pascal Joset , Katharina Steindl , Anita Rauch , Davide Mei , Francesco Mari , Renzo Guerrini , James Lespinasse , Frédéric Tran Mau-Them , Christophe Philippe , Benjamin Dauriat , Laure Raymond , Sébastien Moutton , Anna M Cueto-González , Tiong Yang Tan , Cyril Mignot , Sarah Grotto , Florence Renaldo , Theodore G Drivas , Laura Hennessy , Anna Raper , Ilaria Parenti , Frank J Kaiser , Alma Kuechler , Øyvind L Busk , Lily Islam , Jacob A Siedlik , Lindsay B Henderson , Jane Juusola , Richard Person , Rhonda E Schnur , Antonio Vitobello , Siddharth Banka , Elizabeth J Bhoj , Holly A F Stessman

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Allan Bayat , Zhenjiang Liu , Sheng Luo , Christina D Fenger , Anne F Højte , Bertrand Isidor , Benjamin Cogne , Austin Larson , Caterina Zanus , Flavio Faletra , Boris Keren , Luciana Musante , Isabelle Gourfinkel-An , Charles Perrine , Caroline Demily , Gaeton Lesca , Weiping Liao , Dejian Ren

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

European journal of human genetics : EJHG
Avec: Mythily Ganapathi , Leticia S Matsuoka , Michael March , Dong Li , Elly Brokamp , Sara Benito-Sanz , Susan M White , Katherine Lachlan , Priyanka Ahimaz , Anshuman Sewda , Lisa Bastarache , Amanda Thomas-Wilson , Joan M Stoler , Nuria C Bramswig , Julia Baptista , Karen Stals , Florence Demurger , Benjamin Cogne , Bertrand Isidor , Maria Francesca Bedeschi , Angela Peron , Jeanne Amiel , Elaine Zackai , John P Schacht , Alejandro D Iglesias , Jenny Morton , Ariane Schmetz , Auteur inconnu , Verónica Seidel , Stephanie Lucia , Stephanie M Baskin , Isabelle Thiffault , Joy D Cogan , Christopher T Gordon , Wendy K Chung , Sarah Bowdin , Elizabeth Bhoj

Histone H3.3 beyond cancer: Germline mutations in

Science advances
Avec: Laura Bryant , Dong Li , Samuel G Cox , Dylan Marchione , Evan F Joiner , Khadija Wilson , Kevin Janssen , Pearl Lee , Michael E March , Divya Nair , Elliott Sherr , Brieana Fregeau , Klaas J Wierenga , Alexandrea Wadley , Grazia M S Mancini , Nina Powell-Hamilton , Jiddeke van de Kamp , Theresa Grebe , John Dean , Alison Ross , Heather P Crawford , Zoe Powis , Megan T Cho , Marcia C Willing , Linda Manwaring , Rachel Schot , Caroline Nava , Alexandra Afenjar , Davor Lessel , Matias Wagner , Thomas Klopstock , Juliane Winkelmann , Claudia B Catarino , Kyle Retterer , Jane L Schuette , Jeffrey W Innis , Amy Pizzino , Sabine Lüttgen , Jonas Denecke , Tim M Strom , Kristin G Monaghan , Auteur inconnu , Zuo-Fei Yuan , Holly Dubbs , Renee Bend , Jennifer A Lee , Michael J Lyons , Julia Hoefele , Roman Günthner , Heiko Reutter , Boris Keren , Kelly Radtke , Omar Sherbini , Cameron Mrokse , Katherine L Helbig , Sylvie Odent , Benjamin Cogne , Sandra Mercier , Stephane Bezieau , Thomas Besnard , Sebastien Kury , Richard Redon , Karit Reinson , Monica H Wojcik , Katrin Õunap , Pilvi Ilves , A Micheil Innes , Kristin D Kernohan , Auteur inconnu , Gregory Costain , M Stephen Meyn , David Chitayat , Elaine Zackai , Anna Lehman , Hilary Kitson , Auteur inconnu , Martin G Martin , Julian A Martinez-Agosto , Auteur inconnu , Stan F Nelson , Christina G S Palmer , Jeanette C Papp , Neil H Parker , Janet S Sinsheimer , Eric Vilain , Jijun Wan , Amanda J Yoon , Allison Zheng , Elise Brimble , Giovanni Battista Ferrero , Francesca Clementina Radio , Diana Carli , Sabina Barresi , Alfredo Brusco , Marco Tartaglia , Jennifer Muncy Thomas , Luis Umana , Marjan M Weiss , Garrett Gotway , K E Stuurman , Michelle L Thompson , Kirsty McWalter , Constance T R M Stumpel , Servi J C Stevens , Alexander P A Stegmann , Kristian Tveten , Arve Vøllo , Trine Prescott , Christina Fagerberg , Lone Walentin Laulund , Martin J Larsen , Melissa Byler , Robert Roger Lebel , Anna C Hurst , Joy Dean , Samantha A Schrier Vergano , Jennifer Norman , Saadet Mercimek-Andrews , Juanita Neira , Margot I Van Allen , Nicola Longo , Elizabeth Sellars , Raymond J Louie , Sara S Cathey , Elly Brokamp , Delphine Heron , Molly Snyder , Adeline Vanderver , Celeste Simon , Xavier de la Cruz , Natália Padilla , J Gage Crump , Wendy Chung , Benjamin Garcia , Hakon H Hakonarson , Elizabeth J Bhoj

MAN1B1-CDG: Three new individuals and associated biochemical profiles.

Molecular genetics and metabolism reports
Avec: Soraya Sakhi , Sophie Cholet , Samer Wehbi , Bertrand Isidor , Benjamin Cogne , Sandrine Vuillaumier-Barrot , Thierry Dupré , Trost Detleft , Emmanuelle Schmitt , Bruno Leheup , Céline Bonnet , François Feillet , Christine Muti , François Fenaille , Arnaud Bruneel

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Nature genetics
Avec: Ricardo Moreno Traspas , Tze Shin Teoh , Pui-Mun Wong , Michael Maier , Crystal Y Chia , Kenneth Lay , Nur Ain Ali , Austin Larson , Fuad Al Mutairi , Nouriya Abbas Al-Sannaa , Eissa Ali Faqeih , Majid Alfadhel , Huma Arshad Cheema , Juliette Dupont , Stéphane Bézieau , Bertrand Isidor , Dorrain Yanwen Low , Yulan Wang , Grace Tan , Poh San Lai , Hugues Piloquet , Madeleine Joubert , Hulya Kayserili , Kimberly A Kripps , Shareef A Nahas , Eric P Wartchow , Mikako Warren , Gandham SriLakshmi Bhavani , Majed Dasouki , Renata Sandoval , Elisa Carvalho , Luiza Ramos , Gilda Porta , Bin Wu , Harsha Prasada Lashkari , Badr AlSaleem , Raeda M BaAbbad , Anabela Natália Abreu Ferrão , Vasiliki Karageorgou , Natalia Ordonez-Herrera , Suliman Khan , Peter Bauer , Benjamin Cogne , Aida M Bertoli-Avella , Marie Vincent , Katta Mohan Girisha , Bruno Reversade

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

The Journal of clinical investigation
Avec: Dong Li , Qin Wang , Allan Bayat , Mark R Battig , Yijing Zhou , Daniëlle Gm Bosch , Gijs van Haaften , Leslie Granger , Andrea K Petersen , Luis A Pérez-Jurado , Gemma Aznar-Laín , Anushree Aneja , Miroslava Hancarova , Sarka Bendova , Martin Schwarz , Radka Kremlíková Pourová , Zdenek Sedlacek , Beth A Keena , Michael E March , Cuiping Hou , Nora O'Connor , Elizabeth J Bhoj , Margaret H Harr , Gabrielle Lemire , Kym M Boycott , Meghan C Towne , Megan Li , Mark Tarnopolsky , Lauren Brady , Michael J Parker , Hanna Faghfoury , Lea Kristin Parsley , Emanuele Agolini , Maria Lisa Dentici , Antonio Novelli , Meredith S Wright , Rachel Palmquist , Khanh Lai , Marcello Scala , Pasquale Striano , Michele Iacomino , Federico Zara , Annina Cooper , Timothy J Maarup , Melissa Byler , Robert Roger Lebel , Tugce B Balci , Raymond J Louie , Michael J Lyons , Jessica Douglas , Catherine B Nowak , Alexandra Afenjar , Juliane Hoyer , Boris Keren , Saskia M Maas , Mahdi M Motazacker , Julian A Martinez-Agosto , Ahna M Rabani , Elizabeth M McCormick , Marni Falk , Sarah M Ruggiero , Ingo Helbig , Rikke S Møller , Lino Tessarollo , Francesco Tomassoni-Ardori , Mary Ellen Palko , Tzung-Chien Hsieh , Peter M Krawitz , Mythily Ganapathi , Bruce D Gelb , Vaidehi Jobanputra , Ashley Wilson , John Greally , Sébastien Jacquemont , Khadijé Jizi , Bruel Ange-Line , Chloé Quelin , Vinod K Misra , Erika Chick , Corrado Romano , Donatella Greco , Alessia Arena , Manuela Morleo , Vincenzo Nigro , Rie Seyama , Yuri Uchiyama , Naomichi Matsumoto , Ryoji Taira , Katsuya Tashiro , Yasunari Sakai , Gökhan Yigit , Bernd Wollnik , Michael Wagner , Barbara Kutsche , Anna Ce Hurst , Michelle L Thompson , Ryan J Schmidt , Linda M Randolph , Rebecca C Spillmann , Vandana Shashi , Edward J Higginbotham , Dawn Cordeiro , Amanda Carnevale , Gregory Costain , Tayyaba Khan , Benoît Funalot , Frederic Tran Mau-Them , Luis Fernandez Garcia Moya , Sixto García-Miñaúr , Matthew Osmond , Lauren Chad , Nada Quercia , Diana Carrasco , Chumei Li , Amarilis Sanchez-Valle , Meghan Kelley , Mathilde Nizon , Brynjar O Jensson , Patrick Sulem , Kari Stefansson , Svetlana Gorokhova , Tiffany Busa , Marlène Rio , Hamza Hadj Abdallah , Marion Lesieur-Sebellin , Jeanne Amiel , Véronique Pingault , Sandra Mercier , Marie Vincent , Christophe Philippe , Clemence Fatus-Fauconnier , Kathryn Friend , Rebecca K Halligan , Sunita Biswas , Jane Mr Rosser , Cheryl Shoubridge , Mark A Corbett , Christopher Barnett , Jozef Gecz , Kathleen A Leppig , Anne Slavotinek , Carlo Marcelis , Rolph Pfundt , Bert Ba de Vries , Marjon A van Slegtenhorst , Alice S Brooks , Benjamin Cogne , Thomas Rambaud , Zeynep Tümer , Elaine H Zackai , Naiara Akizu , Yuanquan Song , Hakon Hakonarson

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

American journal of human genetics
Avec: Burak Tepe , Erica L Macke , Marcello Niceta , Monika Weisz Hubshman , Oguz Kanca , Laura Schultz-Rogers , Yuri A Zarate , G Bradley Schaefer , Jorge Luis Granadillo De Luque , Daniel J Wegner , Benjamin Cogne , Brigitte Gilbert-Dussardier , Xavier Le Guillou , Eric J Wagner , Lynn S Pais , Jennifer E Neil , Ganeshwaran H Mochida , Christopher A Walsh , Nurit Magal , Valerie Drasinover , Mordechai Shohat , Tanya Schwab , Chris Schmitz , Karl Clark , Anthony Fine , Brendan Lanpher , Ralitza Gavrilova , Pierre Blanc , Lydie Burglen , Alexandra Afenjar , Dora Steel , Manju A Kurian , Prab Prabhakar , Sophie Gößwein , Nataliya Di Donato , Enrico S Bertini , Auteur inconnu , Michael F Wangler , Shinya Yamamoto , Marco Tartaglia , Eric W Klee , Hugo J Bellen

Life science alliance
Avec: Intisar Koch , Maya Slovik , Yuling Zhang , Bingyu Liu , Martin Rennie , Emily Konz , Benjamin Cogne , Muhannad Daana , Laura Davids , Illja J Diets , Nina B Gold , Alexander M Holtz , Bertrand Isidor , Hagar Mor-Shaked , Juanita Neira Fresneda , Karen Y Niederhoffer , Mathilde Nizon , Rolph Pfundt , Meh Simon , Apa Stegmann , Maria J Guillen Sacoto , Marijke Wevers , Tahsin Stefan Barakat , Shira Yanovsky-Dagan , Boyko S Atanassov , Rachel Toth , Chengjiang Gao , Francisco Bustos , Tamar Harel

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

American journal of human genetics
Avec: Maolei Gong , Jiayi Li , Zailong Qin , Matheus Vernet Machado Bressan Wilke , Yijun Liu , Qian Li , Haoran Liu , Chen Liang , Joel A Morales-Rosado , Ana S A Cohen , Susan S Hughes , Bonnie R Sullivan , Valerie Waddell , Marie-José H van den Boogaard , Richard H van Jaarsveld , Ellen van Binsbergen , Koen L van Gassen , Tianyun Wang , Susan M Hiatt , Michelle D Amaral , Whitley V Kelley , Jianbo Zhao , Weixing Feng , Changhong Ren , Yazhen Yu , Nicole J Boczek , Matthew J Ferber , Carrie Lahner , Sherr Elliott , Yiyan Ruan , Cyril Mignot , Boris Keren , Hua Xie , Xiaoyan Wang , Bernt Popp , Christiane Zweier , Juliette Piard , Christine Coubes , Frederic Tran Mau-Them , Hana Safraou , A Micheil Innes , Julie Gauthier , Jacques L Michaud , Daniel C Koboldt , Odent Sylvie , Marjolaine Willems , Wen-Hann Tan , Benjamin Cogne , Claudine Rieubland , Dominique Braun , Scott Douglas McLean , Konrad Platzer , Pia Zacher , Henry Oppermann , Lucie Evenepoel , Pierre Blanc , Laïla El Khattabi , Neshatul Haque , Nikita R Dsouza , Michael T Zimmermann , Raul Urrutia , Eric W Klee , Yiping Shen , Hongzhen Du , Leonard Rappaport , Chang-Mei Liu , Xiaoli Chen

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