Benjamin Cogné

Affiliations
  • Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.

Publications (50)

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 , 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

Journal of medical genetics
Avec: Daphné Lehalle , Pierre Vabres , Arthur Sorlin , Tatjana Bierhals , Magali Avila , Virginie Carmignac , Martin Chevarin , Erin Torti , Yuichi Abe , Tobias Bartolomaeus , Jill Clayton-Smith , Ivon Cusco , Laurence Duplomb , Eveline De Bont , Yannis Duffourd , Floor Duijkers , Orly Elpeleg , Aviva Fattal , David Geneviève , Maria J Guillen Sacoto , Anne Guimier , David J Harris , Maja Hempel , Bertrand Isidor , Thibaud Jouan , Paul Kuentz , Eriko Koshimizu , Klaske Lichtenbelt , Valerie Loik Ramey , Miriam Maik , Sakoto Miyakate , Yoshiko Murakami , Laurent Pasquier , Helio Pedro , Laurie Simone , Krista Sondergaard-Schatz , Judith St-Onge , Julien Thevenon , Irene Valenzuela , Rami Abou Jamra , Koen van Gassen , Mieke M van Haelst , Silvana van Koningsbruggen , Edgard Verdura , Christa Whelan Habela , Pia Zacher , Jean-Baptiste Rivière , Christel Thauvin-Robinet , Joerg Betschinger , Laurence Faivre

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

American journal of human genetics
Avec: Sarah E M Stephenson , Gregory Costain , Laura E R Blok , Michael A Silk , Thanh Binh Nguyen , Xiaomin Dong , Dana E Alhuzaimi , James J Dowling , Susan Walker , Kimberly Amburgey , Robin Z Hayeems , Lance H Rodan , Marc A Schwartz , Jonathan Picker , Sally A Lynch , Aditi Gupta , Kristen J Rasmussen , Lisa A Schimmenti , Eric W Klee , Zhiyv Niu , Katherine E Agre , Ilana Chilton , Wendy K Chung , Anya Revah-Politi , P Y Billie Au , Christopher Griffith , Melissa Racobaldo , Annick Raas-Rothschild , Bruria Ben Zeev , Ortal Barel , Sebastien Moutton , Fanny Morice-Picard , Virginie Carmignac , Jenny Cornaton , Nathalie Marle , Orrin Devinsky , Chandler Stimach , Stephanie Burns Wechsler , Bryan E Hainline , Katie Sapp , Marjolaine Willems , Ange-Line Bruel , Kerith-Rae Dias , Carey-Anne Evans , Tony Roscioli , Rani Sachdev , Suzanna E L Temple , Ying Zhu , Joshua J Baker , Ingrid E Scheffer , Fiona J Gardiner , Amy L Schneider , Alison M Muir , Heather C Mefford , Amy Crunk , Elizabeth M Heise , Francisca Millan , Kristin G Monaghan , Richard Person , Lindsay Rhodes , Sarah Richards , Ingrid M Wentzensen , Bertrand Isidor , Mathilde Nizon , Marie Vincent , Thomas Besnard , Amelie Piton , Carlo Marcelis , Kohji Kato , Norihisa Koyama , Tomoo Ogi , Elaine Suk-Ying Goh , Christopher Richmond , David J Amor , Jessica O Boyce , Angela T Morgan , Michael S Hildebrand , Antony Kaspi , Melanie Bahlo , Rún Friðriksdóttir , Hildigunnur Katrínardóttir , Patrick Sulem , Kári Stefánsson , Hans Tómas Björnsson , Simone Mandelstam , Manuela Morleo , Milena Mariani , Auteur inconnu , Marcello Scala , Andrea Accogli , Annalaura Torella , Valeria Capra , Mathew Wallis , Sandra Jansen , Quinten Weisfisz , Hugoline de Haan , Simon Sadedin , Auteur inconnu , Sze Chern Lim , Susan M White , David B Ascher , Annette Schenck , Paul J Lockhart , John Christodoulou , Tiong Yang Tan

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

American journal of human genetics
Avec: Dmitrijs Rots , Sanaa Choufani , Victor Faundes , Alexander J M Dingemans , Shelagh Joss , Nicola Foulds , Elizabeth A Jones , Sarah Stewart , Pradeep Vasudevan , Tabib Dabir , Soo-Mi Park , Rosalyn Jewell , Natasha Brown , Lynn Pais , Sébastien Jacquemont , Khadijé Jizi , Conny M A van Ravenswaaij-Arts , Hester Y Kroes , Constance T R M Stumpel , Charlotte W Ockeloen , Illja J Diets , Mathilde Nizon , Marie Vincent , Thomas Besnard , Marios Kambouris , Emily Anderson , Elaine H Zackai , Carey McDougall , Sarah Donoghue , Anne O'Donnell-Luria , Zaheer Valivullah , Melanie O'Leary , Siddharth Srivastava , Heather Byers , Nancy Leslie , Sarah Mazzola , George E Tiller , Moin Vera , Joseph J Shen , Richard Boles , Vani Jain , Elise Brischoux-Boucher , Esther Kinning , Brittany N Simpson , Jacques C Giltay , Jacqueline Harris , Boris Keren , Anne Guimier , Pierre Marijon , Bert B A de Vries , Constance S Motter , Bryce A Mendelsohn , Samantha Coffino , Erica H Gerkes , Alexandra Afenjar , Paola Visconti , Elena Bacchelli , Elena Maestrini , Andree Delahaye-Duriez , Catherine Gooch , Yvonne Hendriks , Hieab Adams , Christel Thauvin-Robinet , Sarah Josephi-Taylor , Marta Bertoli , Michael J Parker , Julie W Rutten , Oana Caluseriu , Hilary J Vernon , Jonah Kaziyev , Jia Zhu , Jessica Kremen , Zoe Frazier , Hailey Osika , David Breault , Sreelata Nair , Suzanne M E Lewis , Fabiola Ceroni , Marta Viggiano , Annio Posar , Helen Brittain , Traficante Giovanna , Gori Giulia , Lina Quteineh , Russia Ha-Vinh Leuchter , Evelien Zonneveld-Huijssoon , Cecilia Mellado , Isabelle Marey , Alicia Coudert , Mariana Inés Aracena Alvarez , Milou G P Kennis , Arianne Bouman , Maian Roifman , María Inmaculada Amorós Rodríguez , Juan Dario Ortigoza-Escobar , Vivian Vernimmen , Margje Sinnema , Rolph Pfundt , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , Rosanna Weksberg , Siddharth Banka

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 , Alyssa Blesson , Anne Comi , Ingrid M Wentzensen , Blake Vuocolo , Seema R Lalani , Roberta Sierra , Lori Berry , Kent Carter , Stephan J Sanders , Sarah P Blagden

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Molecular psychiatry
Avec: Elizabeth E Palmer , Michael Pusch , Alessandra Picollo , Caitlin Forwood , Matthew H Nguyen , Vanessa Suckow , Jessica Gibbons , Alva Hoff , Lisa Sigfrid , Andre Megarbane , Mathilde Nizon , Claire Beneteau , Fowzan S Alkuraya , Aziza Chedrawi , Mais O Hashem , Hannah Stamberger , Sarah Weckhuysen , Arnaud Vanlander , Berten Ceulemans , Sulekha Rajagopalan , Kenneth Nunn , Stéphanie Arpin , Martine Raynaud , Constance S Motter , Catherine Ward-Melver , Katrien Janssens , Marije Meuwissen , Diane Beysen , Nicola Dikow , Mona Grimmel , Tobias B Haack , Emma Clement , Amy McTague , David Hunt , Sharron Townshend , Michelle Ward , Linda J Richards , Cas Simons , Gregory Costain , Lucie Dupuis , Roberto Mendoza-Londono , Tracy Dudding-Byth , Jackie Boyle , Carol Saunders , Emily Fleming , Salima El Chehadeh , Marie-Aude Spitz , Amelie Piton , Bénédicte Gerard , Marie-Thérèse Abi Warde , Gillian Rea , Caoimhe McKenna , Sofia Douzgou , Siddharth Banka , Cigdem Akman , Jennifer M Bain , Tristan T Sands , Golder N Wilson , Erin J Silvertooth , Lauren Miller , Damien Lederer , Rani Sachdev , Rebecca Macintosh , Olivier Monestier , Deniz Karadurmus , Felicity Collins , Melissa Carter , Luis Rohena , Marjolein H Willemsen , Charlotte W Ockeloen , Rolph Pfundt , Sanne D Kroft , Michael Field , Francisco E R Laranjeira , Ana M Fortuna , Ana R Soares , Vincent Michaud , Sophie Naudion , Sailaja Golla , David D Weaver , Lynne M Bird , Jennifer Friedman , Virginia Clowes , Shelagh Joss , Laura Pölsler , Philippe M Campeau , Maria Blazo , Emilia K Bijlsma , Jill A Rosenfeld , Christian Beetz , Zöe Powis , Kirsty McWalter , Tracy Brandt , Erin Torti , Mikaël Mathot , Shekeeb S Mohammad , Ruth Armstrong , Vera M Kalscheuer

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

Human genomics
Avec: Jean-Madeleine de Sainte Agathe , Mathilde Filser , Bertrand Isidor , Thomas Besnard , Paul Gueguen , Aurélien Perrin , Charles Van Goethem , Camille Verebi , Marion Masingue , John Rendu , Mireille Cossée , Anne Bergougnoux , Laurent Frobert , Julien Buratti , Élodie Lejeune , Éric Le Guern , Florence Pasquier , Fabienne Clot , Vasiliki Kalatzis , Anne-Françoise Roux , David Baux

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 , 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

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 , 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

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Marcello Scala , Kamal Khan , Claire Beneteau , Rachel G Fox , Sandra von Hardenberg , Ayaz Khan , Madeleine Joubert , Lorraine Fievet , Marie Musquer , Claudine Le Vaillant , Julie Korda Holsclaw , Derek Lim , Ann-Cathrine Berking , Andrea Accogli , Thea Giacomini , Lino Nobili , Pasquale Striano , Federico Zara , Annalaura Torella , Vincenzo Nigro , Max R Salick , Ajamete Kaykas , Kevin Eggan , Valeria Capra , Stéphane Bézieau , Erica E Davis , Michael F Wells

Novel syndromic neurodevelopmental disorder caused by de novo deletion of

medRxiv : the preprint server for health sciences
Avec: Vijay S Ganesh , Kevin Riquin , Nicolas Chatron , Kay-Marie Lamar , Miriam C Aziz , Pauline Monin , Melanie O'Leary , Julia K Goodrich , Kiran V Garimella , Eleina England , Esther Yoon , Ben Weisburd , Francois Aguet , Carlos A Bacino , David R Murdock , Hongzheng Dai , Jill A Rosenfeld , Lisa T Emrick , Shamika Ketkar , Auteur inconnu , Yael Sarusi , Damien Sanlaville , Saima Kayani , Brian Broadbent , Bertrand Isidor , Alisée Pengam , Daniel G MacArthur , Igor Ulitsky , Gemma L Carvill , Anne O'Donnell-Luria

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

European journal of human genetics : EJHG
Avec: 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

Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.

American journal of medical genetics. Part A
Avec: Jose Andres Morales , Irene Valenzuela , Ivon Cuscó , Bertrand Isidor , Dena R Matalon , Natalia Gomez-Ospina

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 , 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

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

American journal of human genetics
Avec: Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha S Zaki , Andrea Ciolfi , Julien Paccaud , François Girodon , Odile Boespflug-Tanguy , Thomas Besnard , Jennifer Kerkhof , Haley McConkey , Aymeric Masson , Anne-Sophie Denommé-Pichon , Eva Trochu , Virginie Vignard , Fatima El It , Lance H Rodan , Mohammad Ayman Alkhateeb , Rami Abou Jamra , Laurence Duplomb , Emilie Tisserant , Yannis Duffourd , Ange-Line Bruel , Adam Jackson , Siddharth Banka , Meriel McEntagart , Anand Saggar , Joseph G Gleeson , David Sievert , Hyunwoo Bae , Beom Hee Lee , Kisang Kwon , Go Hun Seo , Hane Lee , Anjum Saeed , Nadeem Anjum , Huma Cheema , Salem Alawbathani , Imran Khan , Jorge Pinto-Basto , Joyce Teoh , Jasmine Wong , Umar Bin Mohamad Sahari , Henry Houlden , Kristina Zhelcheska , Melanie Pannetier , Mona A Awad , Marion Lesieur-Sebellin , Giulia Barcia , Jeanne Amiel , Julian Delanne , Christophe Philippe , Laurence Faivre , Sylvie Odent , Aida Bertoli-Avella , Christel Thauvin , Bekim Sadikovic , Bruno Reversade , Reza Maroofian , Jérôme Govin , Marco Tartaglia , Antonio Vitobello

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 , 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

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

American journal of medical genetics. Part A
Avec: Thoa Ha , Angela Morgan , Meghan N Bartos , Katelyn Beatty , Dominique Braun , Céline B Gerber , Harald Gaspar , Anna M Kopps , Claudine Rieubland , Anna C E Hurst , David J Amor , Mathilde Nizon , Laurent Pasquier , Rolph Pfundt , André Reis , Victoria Mok Siu , Marine Tessarech , Michelle L Thompson , Marie Vincent , Bert B A de Vries , Matthew B Walsh , Stephanie Burns Wechsler , Christiane Zweier , Rhonda E Schnur , Maria J Guillen Sacoto , Henri Margot , Barbara Masotto , Maria Irene Valenzuela Palafoll , Urwah Nawaz , Irina Voineagu , Anne Slavotinek

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 , 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

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

Communications biology
Avec: Amama Ghaffar , Tehmeena Akhter , Petter Strømme , Doriana Misceo , Amjad Khan , Eirik Frengen , Muhammad Umair , Bertrand Isidor , Asma A Khan , Ange-Line Bruel , Arthur Sorlin , Paul Kuentz , Christine Chiaverini , A Micheil Innes , Michael Zech , Marek Baláž , Petra Havrankova , Robert Jech , Zubair M Ahmed , Sheikh Riazuddin , Saima Riazuddin

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

Prenatal diagnosis
Avec: Jeanne Jury , Madeleine Joubert , Claudine Le Vaillant , Leïla Ghesh , Pierre-Emmanuel Séguéla , Ange-Line Bruel , Mathilde Nizon

Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).

Clinical genetics
Avec: Jeanne Jury , Jean-François Benoist , Madeleine Joubert , Chloé Quelin , Thomas Besnard , Solène Conrad , Claudine Le Vaillant , Stéphane Bézieau , Bertrand Isidor , Tania Attié-Bitach , Marie Vincent

Phenotype delineation of ZNF462 related syndrome.

American journal of medical genetics. Part A
Avec: Paul Kruszka , Tommy Hu , Sungkook Hong , Rebecca Signer , Betrand Isidor , Sarah E Mazzola , Jacques C Giltay , Koen L I van Gassen , Eleina M England , Lynn Pais , Charlotte W Ockeloen , Pedro A Sanchez-Lara , Esther Kinning , Darius J Adams , Kayla Treat , Wilfredo Torres-Martinez , Maria F Bedeschi , Maria Iascone , Stephanie Blaney , Oliver Bell , Tiong Y Tan , Marie-Ange Delrue , Julie Jurgens , Brenda J Barry , Elizabeth C Engle , Sarah K Savage , Nicole Fleischer , Julian A Martinez-Agosto , Kym Boycott , Elaine H Zackai , Maximilian Muenke

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

European journal of human genetics : EJHG
Avec: Rosalind Verheije , Gabriel S Kupchik , Bertrand Isidor , Hester Y Kroes , Sally Ann Lynch , Lara Hawkes , Maja Hempel , Bruce D Gelb , Jamal Ghoumid , Guylaine D'Amours , Kate Chandler , Christèle Dubourg , Sara Loddo , Zeynep Tümer , Charles Shaw-Smith , Mathilde Nizon , Michael Shevell , Evelien Van Hoof , Kwame Anyane-Yeboa , Gaetana Cerbone , Jill Clayton-Smith , Pierre Corre , Anniek Corveleyn , Marie De Borre , Tina Duelund Hjortshøj , Mélanie Fradin , Marc Gewillig , Elizabeth Goldmuntz , Greet Hens , Emmanuelle Lemyre , Hubert Journel , Usha Kini , Fanny Kortüm , Cedric Le Caignec , Antonio Novelli , Sylvie Odent , Florence Petit , Anya Revah-Politi , Nicholas Stong , Tim M Strom , Ellen van Binsbergen , Auteur inconnu , Koenraad Devriendt , Jeroen Breckpot

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

Human molecular genetics
Avec: Lina Liang , Xia Li , Sébastien Moutton , Samantha A Schrier Vergano , Anne Saint-Martin , Anna C E Hurst , Yushuang Hu , Olaf Bodamer , Julien Thevenon , Christina Y Hung , Bertrand Isidor , Bénédicte Gerard , Adelaide Rega , Sophie Nambot , Daphné Lehalle , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre , Stéphane Bézieau , Leon S Dure , Daniel C Helbling , David Bick , Chengqi Xu , Qiuyun Chen , Grazia M S Mancini , Antonio Vitobello , Qing Kenneth Wang

Patients with

Journal of medical genetics
Avec: Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia , Julien Buratti , Diane Doummar , Caroline Karsenty , Sandra Kenis , Eric Leguern , Gaetan Lesca , Caroline Nava , Mathilde Nizon , Amelie Piton , Stéphanie Valence , Laurent Villard , Sarah Weckhuysen , Boris Keren , Cyril Mignot

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

American journal of human genetics
Avec: Lindsey D Goodman , Heidi Cope , Zelha Nil , Thomas A Ravenscroft , Wu-Lin Charng , Shenzhao Lu , An-Chi Tien , Rolph Pfundt , David A Koolen , Charlotte A Haaxma , Hermine E Veenstra-Knol , Jolien S Klein Wassink-Ruiter , Marijke R Wevers , Melissa Jones , Laurence E Walsh , Victoria H Klee , Miel Theunis , Eric Legius , Dora Steel , Katy E S Barwick , Manju A Kurian , Shekeeb S Mohammad , Russell C Dale , Paulien A Terhal , Ellen van Binsbergen , Brian Kirmse , Bethany Robinette , Bertrand Isidor , Theresa A Grebe , Peggy Kulch , Bryan E Hainline , Katherine Sapp , Eva Morava , Eric W Klee , Erica L Macke , Pamela Trapane , Christopher Spencer , Yue Si , Amber Begtrup , Matthew J Moulton , Debdeep Dutta , Oguz Kanca , Auteur inconnu , Michael F Wangler , Shinya Yamamoto , Hugo J Bellen , Queenie K-G Tan

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Silvestre Cuinat , Mathilde Nizon , Bertrand Isidor , Alexander Stegmann , Richard H van Jaarsveld , Koen L van Gassen , Jasper J van der Smagt , Catharina M L Volker-Touw , Sjoerd J B Holwerda , Paulien A Terhal , Sarah Schuhmann , Georgia Vasileiou , Mohamed Khalifa , Alaa A Nugud , Hemad Yasaei , Lilian Bomme Ousager , Charlotte Brasch-Andersen , Wallid Deb , Thomas Besnard , Marleen E H Simon , Karin Huijsdens-van Amsterdam , Nienke E Verbeek , Dena Matalon , Natalie Dykzeul , Shana White , Elizabeth Spiteri , Koen Devriendt , Anneleen Boogaerts , Marjolein Willemsen , Han G Brunner , Margje Sinnema , Bert B A De Vries , Erica H Gerkes , Rolph Pfundt , Kosuke Izumi , Ian D Krantz , Zhou L Xu , Jill R Murrell , Irene Valenzuela , Ivon Cusco , Eulàlia Rovira-Moreno , Yaping Yang , Varoona Bizaoui , Olivier Patat , Laurence Faivre , Frederic Tran-Mau-Them , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Christophe Philippe , Stéphane Bezieau ,

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

American journal of human genetics
Avec: Martin Broly , Bogdan V Polevoda , Kamel M Awayda , Ning Tong , Jenna Lentini , Thomas Besnard , Wallid Deb , Declan O'Rourke , Julia Baptista , Sian Ellard , Mohammed Almannai , Mais Hashem , Ferdous Abdulwahab , Hanan Shamseldin , Saeed Al-Tala , Fowzan S Alkuraya , Alberta Leon , Rosa L E van Loon , Alessandra Ferlini , Mariabeatrice Sanchini , Stefania Bigoni , Andrea Ciorba , Hans van Bokhoven , Zafar Iqbal , Almundher Al-Maawali , Fathiya Al-Murshedi , Anuradha Ganesh , Watfa Al-Mamari , Sze Chern Lim , Lynn S Pais , Natasha Brown , Saima Riazuddin , Stéphane Bézieau , Dragony Fu , Bertrand Isidor , Mitchell R O'Connell

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 , Mathilde Nizon , Claire Feger , Jean Muller , Erin Torti , Dorothy K Grange , Marjolaine Willems , Michael C Kruer , Jaewon Ko , Amélie Piton , Ji Won Um

NOTCH2 related disorders: Description and review of the fetal presentation.

European journal of medical genetics
Avec: W Deb , M Joubert , B Cogné , M Vincent , L Ghesh , S Bézieau , C Le Vaillant , C Beneteau

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Clinical genetics
Avec: Virginie Carmignac , Sophie Nambot , Daphné Lehalle , Patrick Callier , Stephanie Moortgat , Valérie Benoit , Jamal Ghoumid , Bruno Delobel , Thomas Smol , Caroline Thuillier , Cécile Zordan , Sophie Naudion , Thierry Bienvenu , Renaud Touraine , Francis Ramond , Christiane Zweier , André Reis , Cornelia Kraus , Mathilde Nizon , Alain Verloes , Frédéric Tran Mau-Them , Arthur Sorlin , Thibaud Jouan , Yannis Duffourd , Emilie Tisserant , Christophe Philippe , Antonio Vitobello , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet

Journal of medical genetics
Avec: Alexandra Roston , Dan Evans , Harinder Gill , Margaret McKinnon , Bertrand Isidor , Jill Mwenifumbo , Clara van Karnebeek , Jianghong An , Steven J M Jones , Matthew Farrer , Michelle Demos , Mary Connolly , William T Gibson , Auteur inconnu , Auteur inconnu

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

American journal of human genetics
Avec: Dara Tolchin , Jessica P Yeager , Priya Prasad , Naghmeh Dorrani , Alvaro Serrano Russi , Julian A Martinez-Agosto , Abdul Haseeb , Marco Angelozzi , G W E Santen , Claudia Ruivenkamp , Saadet Mercimek-Andrews , Christel Depienne , Alma Kuechler , Barbara Mikat , Hermann-Josef Ludecke , Frederic Bilan , Gwenael Le Guyader , Brigitte Gilbert-Dussardier , Boris Keren , Solveig Heide , Damien Haye , Hilde Van Esch , Liesbeth Keldermans , Damara Ortiz , Emily Lancaster , Ian D Krantz , Bryan L Krock , Kieran B Pechter , Alexandre Arkader , Livija Medne , Elizabeth T DeChene , Eduardo Calpena , Giada Melistaccio , Andrew O M Wilkie , Mohnish Suri , Nicola Foulds , Auteur inconnu , Amber Begtrup , Lindsay B Henderson , Cara Forster , Patrick Reed , Marie T McDonald , Allyn McConkie-Rosell , Julien Thevenon , Pauline Le Tanno , Charles Coutton , Anne C H Tsai , Sarah Stewart , Ales Maver , Rudolf Gorazd , Olivier Pichon , Mathilde Nizon , Bertrand Isidor , Dominique Martin-Coignard , Radka Stoeva , Véronique Lefebvre , Cédric Le Caignec

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Human genetics
Avec: Nicola Ragge , Bertrand Isidor , Pierre Bitoun , Sylvie Odent , Irina Giurgea , Wallid Deb , Marie Vincent , Jessica Le Gall , Jenny Morton , Derek Lim , Auteur inconnu , Guylène Le Meur , Celia Zazo Seco , Dimitra Zafeiropoulou , Dorine Bax , Petra Zwijnenburg , Anara Arteche , Saoud Tahsin Swafiri , Ruth Cleaver , Meriel McEntagart , Usha Kini , William Newman , Carmen Ayuso , Marta Corton , Yvan Herenger , Médéric Jeanne , Patrick Calvas , Nicolas Chassaing

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 , 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

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 , Nicholas Katsanis , Stéphane Bézieau , Jeremie Poschmann , Erica E Davis , Bertrand Isidor

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Clinical genetics
Avec: Aurore Garde , Jenny Cornaton , Arthur Sorlin , Sébastien Moutton , Claire Nicolas , Christine Juif , David Geneviève , Laurence Perrin , Philippe Khau-Van-Kien , Thomas Smol , Catherine Vincent-Delorme , Bertrand Isidor , Alexandra Afenjar , Boris Keren , Christine Coubes , Fabienne Prieur , Annick Toutain , Yann Trousselet , Solène Bourgouin , Coralie Gonin-Olympiade , Kim Giraudat , Amélie Piton , Bénédicte Gérard , Sylvie Odent , Fanny Tessier , Lola Lemasson , Solveig Heide , Anne-Claire Gelineau , Catherine Sarret , Anne Miret , Elise Schaefer , Juliette Piard , Rémi Mathevet , Marion Boucon , Ange-Line Bruel , Frederic Tran Mau-Them , Martin Chevarin , Antonio Vitobello , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Thomas , Thierry Gautier , Dana Marafi , Thomas Besnard , Marjolaine Willems , Sébastien Moutton , Bertand Isidor , Solène Conrad , Romano Tenconi , Maria Iascone , Arthur Sorlin , Alice Masurel , Tabib Dabir , Adam Jackson , Siddharth Banka , Julian Delanne , James R Lupski , Nebal Waill Saadi , Fowzan S Alkuraya , Fatema Al Zahrani , Pankaj B Agrawal , Eleina England , Jill A Madden , Jennifer E Posey , Lydie Burglen , Diana Rodriguez , Martin Chevarin , Sylvie Nguyen , Frédéric Tran Mau-Them , Yannis Duffourd , Philippine Garret , Ange-Line Bruel , Patrick Callier , Nathalie Marle , Anne-Sophie Denomme-Pichon , Laurence Duplomb , Christophe Philippe , Christel Thauvin-Robinet , Jérôme Govin , Laurence Faivre , Antonio Vitobello

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Journal of medical genetics
Avec: Quentin Testard , Xavier Vanhoye , Kevin Yauy , Marie-Emmanuelle Naud , Gaelle Vieville , Francis Rousseau , Benjamin Dauriat , Valentine Marquet , Sylvie Bourthoumieu , David Geneviève , Vincent Gatinois , Constance Wells , Marjolaine Willems , Christine Coubes , Lucile Pinson , Rodolphe Dard , Aude Tessier , Bérénice Hervé , François Vialard , Ines Harzallah , Renaud Touraine , Wallid Deb , Thomas Besnard , Olivier Pichon , Béatrice Laudier , Laurent Mesnard , Alice Doreille , Tiffany Busa , Chantal Missirian , Véronique Satre , Charles Coutton , Tristan Celse , Radu Harbuz , Laure Raymond , Jean-François Taly , Julien Thevenon

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Research square
Avec: David Picketts , Ghayda Mirzaa , Keqin Yan , Raissa Relator , Sara Timpano , Binnaz Yalcin , Stephan Collins , Alban Ziegler , Emily Pao , Nora Oyama , Elise Brischoux-Boucher , Juliette Piard , Kristin Monaghan , Maria Guillen Sacoto , William Dobyns , Kristen Park , Daniel Fernández-Mayoralas , Alberto Fernández-Jaén , Parul Jayakar , Alfredo Brusco , Vincenzo Antona , Elisa Giorgio , Malin Kvarnung , Bertrand Isidor , Solène Conrad , Wallid Deb , K E Stuurman , Katalin Sterbova , Noor Smal , Sarah Weckhuysen , Renske Oegema , Micheil Innes , Maeson Latsko , Tawfeg Ben-Omran , Rebecca Yeh , Michael Kruer , Somayeh Bakhtiari , Antigone Papavasiliou , Sébastien Moutton , Sophie Nambot , Sirisak Chanprasert , Sarah Paolucci , Kait Miller , Barbara Burton , Katherine Kim , Emily O'Heir , Zandre Bruwer , Kirsten Donald , Tjitske Kleefstra , Amy Goldstein , Brad Angle , Kelly Bontempo , Peter Miny , Pascal Joset , Florence Demurger , Emma Hobson , Lewis Pang , Lori Carpenter , Dong Li , Dominique Bonneau , Bekim Sadikovic

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

European journal of medical genetics
Avec: Servane de Masfrand , Mathilde Nizon , Wallid Deb , Alice Goldenberg , François Lecoquierre , Gaël Nicolas , Marie Bournez , Antonio Vitobello , Frédéric Tran Mau-Them , Gwenaël le Guyader , Frédéric Bilan , Peter Bauer , Christiane Zweier , Juliette Piard , Laurent Pasquier , Stéphane Bézieau , Bénédicte Gerard , Laurence Faivre , Pascale Saugier-Veber , Amélie Piton , Bertrand Isidor

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal of medical genetics
Avec: Hortense Thomas , Tom Alix , Émeline Renard , Mathilde Renaud , Justine Wourms , Stéphane Zuily , Bruno Leheup , David Geneviève , Natacha Dreumont , Emmanuelle Schmitt , Myriam Bronner , Marc Muller , Marion Divoux , Marion Wandzel , Jean-Marie Ravel , Mylène Dexheimer , Aurélie Becker , Virginie Roth , Marjolaine Willems , Christine Coubes , Gaëlle Vieville , Françoise Devillard , Élise Schaefer , Sarah Baer , Amélie Piton , Bénédicte Gérard , Marie Vincent , Mathilde Nizon , Lyse Ruaud , Nathalie Couque , Audrey Putoux , Patrick Edery , Gaëtan Lesca , Nicolas Chatron , Marianne Till , Laurence Faivre , Frédéric Tran-Mau-Them , Jean-Luc Alessandri , Marine Lebrun , Chloé Quélin , Sylvie Odent , Christèle Dubourg , Véronique David , Marie Faoucher , Cyril Mignot , Boris Keren , Élise Pisan , Alexandra Afenjar , Sophie Julia , Éric Bieth , Guillaume Banneau , Alice Goldenberg , Thomas Husson , Dominique Campion , François Lecoquierre , Gaël Nicolas , Camille Charbonnier , Anne De Saint Martin , Sophie Naudion , Manon Degoutin , Sophie Rondeau , Caroline Michot , Valérie Cormier-Daire , Abderrahim Oussalah , Carine Pourié , Laëtitia Lambert , Céline Bonnet

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.

Annals of clinical and translational neurology
Avec: Jillian M Cameron , Snezana Maljevic , Umesh Nair , Ye Htet Aung , Stéphane Bézieau , Edward Blair , Bertrand Isidor , Christiane Zweier , André Reis , Mary Kay Koenig , Timothy Maarup , Dean Sarco , Alexandra Afenjar , A H M Mahbubul Huq , Mary Kukolich , Thierry Billette de Villemeur , Caroline Nava , Bénédicte Héron , Steven Petrou , Samuel F Berkovic

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 , 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: 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 , 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

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ash Zawerton , Cyril Mignot , Ashley Sigafoos , Patrick R Blackburn , Abdul Haseeb , Kirsty McWalter , Shoji Ichikawa , Caroline Nava , Boris Keren , Perrine Charles , Isabelle Marey , Anne-Claude Tabet , Jonathan Levy , Laurence Perrin , Andreas Hartmann , Gaetan Lesca , Caroline Schluth-Bolard , Pauline Monin , Sophie Dupuis-Girod , Maria J Guillen Sacoto , Rhonda E Schnur , Zehua Zhu , Alice Poisson , Salima El Chehadeh , Yves Alembik , Ange-Line Bruel , Daphné Lehalle , Sophie Nambot , Sébastien Moutton , Sylvie Odent , Sylvie Jaillard , Christèle Dubourg , Yvonne Hilhorst-Hofstee , Tina Barbaro-Dieber , Lucia Ortega , Elizabeth J Bhoj , Diane Masser-Frye , Lynne M Bird , Kristin Lindstrom , Keri M Ramsey , Vinodh Narayanan , Emily Fassi , Marcia Willing , Trevor Cole , Claire G Salter , Rhoda Akilapa , Anthony Vandersteen , Natalie Canham , Patrick Rump , Erica H Gerkes , Jolien S Klein Wassink-Ruiter , Emilia Bijlsma , Mariëtte J V Hoffer , Marcelo Vargas , Antonina Wojcik , Florian Cherik , Christine Francannet , Jill A Rosenfeld , Keren Machol , Daryl A Scott , Carlos A Bacino , Xia Wang , Gary D Clark , Marta Bertoli , Simon Zwolinski , Rhys H Thomas , Ela Akay , Richard C Chang , Rebekah Bressi , Rossana Sanchez Russo , Myriam Srour , Laura Russell , Anne-Marie E Goyette , Lucie Dupuis , Roberto Mendoza-Londono , Catherine Karimov , Maries Joseph , Mathilde Nizon , Alma Kuechler , Amélie Piton , Auteur inconnu , Eric W Klee , Véronique Lefebvre , Karl J Clark , Christel Depienne

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

American journal of human genetics
Avec: Xenia Latypova , Lokuliyanage Dona Samudita Senaratne , Ludovic Martin , Daniel C Koboldt , Georgios Kellaris , Lorraine Fievet , Guylène Le Meur , Dominique Caldari , Dominique Debray , Mathilde Nizon , Eirik Frengen , Sara J Bowne , Auteur inconnu , Elizabeth L Cadena , Stephen P Daiger , Kinga M Bujakowska , Eric A Pierce , Michael Gorin , Nicholas Katsanis , Stéphane Bézieau , Simon M Petersen-Jones , Laurence M Occelli , Leslie A Lyons , Laurence Legeai-Mallet , Lori S Sullivan , Erica E Davis , Bertrand Isidor

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

European journal of medical genetics
Avec: Gabriella Vera , Arthur Sorlin , Geoffroy Delplancq , François Lecoquierre , Marie Brasseur-Daudruy , Florence Petit , Thomas Smol , Alban Ziegler , Dominique Bonneau , Estelle Colin , Sandra Mercier , Stéphane Bézieau , Patrick Edery , Gaetan Lesca , Nicolas Chatron , Isabelle Sabatier , Bénédicte Duban-Bedu , Cindy Colson , Amélie Piton , Benjamin Durand , Yline Capri , Laurence Perrin , Antje Wiesener , Christiane Zweier , Reza Maroofian , Christopher J Carroll , Hamid Galehdari , Neda Mazaheri , Bert Callewaert , Fabienne Giulianno , Khaoula Zaafrane-Khachnaoui , Rebecca Buchert-Lo , Tobias Haack , Janine Magg , Angelika Rieß , Maria Blandfort , Stephan Waldmüller , Veronka Horber , Emanuela Leonardi , Roberta Polli , Licia Turolla , Alessandra Murgia , Thierry Frebourg , Anne Sophie Lebre , Gaël Nicolas , Pascale Saugier-Veber , Anne-Marie Guerrot

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

American journal of human genetics
Avec: Sónia Barbosa , Stephanie Greville-Heygate , Maxime Bonnet , Annie Godwin , Christine Fagotto-Kaufmann , Andrey V Kajava , Damien Laouteouet , Rebecca Mawby , Htoo Aung Wai , Alexander J M Dingemans , Jayne Hehir-Kwa , Marjorlaine Willems , Yline Capri , Sarju G Mehta , Helen Cox , David Goudie , Fleur Vansenne , Peter Turnpenny , Marie Vincent , Gaëtan Lesca , Jozef Hertecant , Diana Rodriguez , Boris Keren , Lydie Burglen , Marion Gérard , Audrey Putoux , Auteur inconnu , Vincent Cantagrel , Karine Siquier-Pernet , Marlene Rio , Siddharth Banka , Ajoy Sarkar , Marcie Steeves , Michael Parker , Emma Clement , Sébastien Moutton , Frédéric Tran Mau-Them , Amélie Piton , Bert B A de Vries , Matthew Guille , Anne Debant , Susanne Schmidt , Diana Baralle

Réseau de co-auteurs

Bertrand Isidor 33 collaborations
Stéphane Bézieau 19 collaborations
Thomas Besnard 19 collaborations
Mathilde Nizon 17 collaborations
None None 15 collaborations
Sébastien Küry 14 collaborations
Marie Vincent 13 collaborations
Wallid Deb 13 collaborations
Laurence Faivre 12 collaborations
Boris Keren 11 collaborations
Jill A Rosenfeld 8 collaborations
Antonio Vitobello 8 collaborations
Sylvie Odent 8 collaborations
Christel Thauvin-Robinet 7 collaborations
Julien Thevenon 7 collaborations
Arthur Sorlin 7 collaborations
Ange-Line Bruel 7 collaborations
Kirsty McWalter 7 collaborations
Amélie Piton 7 collaborations
Eric W Klee 6 collaborations
Cyril Mignot 6 collaborations
Erin Torti 6 collaborations
Rolph Pfundt 6 collaborations
Virginie Vignard 6 collaborations
Dominique Bonneau 6 collaborations
Christophe Philippe 6 collaborations
Sébastien Moutton 6 collaborations
Alexandra Afenjar 5 collaborations
Alban Ziegler 5 collaborations
Yannis Duffourd 5 collaborations
David Geneviève 5 collaborations
Laurent Pasquier 5 collaborations
Marjolaine Willems 5 collaborations
Siddharth Banka 5 collaborations
Evan E Eichler 5 collaborations
Christiane Zweier 5 collaborations
Solène Conrad 5 collaborations
Patrick R Blackburn 4 collaborations
Philippe M Campeau 4 collaborations
Paul Kuentz 4 collaborations
Caroline Nava 4 collaborations
Daphné Lehalle 4 collaborations
Virginie Carmignac 4 collaborations
Wendy K Chung 4 collaborations
Ingrid M Wentzensen 4 collaborations
Erica H Gerkes 4 collaborations
Fowzan S Alkuraya 4 collaborations
Bénédicte Gerard 4 collaborations
Frédéric Ebstein 4 collaborations
Thomas Smol 4 collaborations
Alice Goldenberg 4 collaborations
François Lecoquierre 4 collaborations
Elke Krüger 4 collaborations
Amber Begtrup 4 collaborations
Madeleine Joubert 4 collaborations
Anne-Sophie Denommé-Pichon 4 collaborations
Sandra Mercier 4 collaborations
James R Lupski 4 collaborations
Usha Kini 4 collaborations
Sophie Nambot 4 collaborations
Frédéric Tran Mau-Them 4 collaborations
Lydie Burglen 3 collaborations
Perrine Charles 3 collaborations
Diana Rodriguez 3 collaborations
Martin Chevarin 3 collaborations
Jill Clayton-Smith 3 collaborations
Laurence Duplomb 3 collaborations
Maria J Guillen Sacoto 3 collaborations
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