Bertrand Isidor

Affiliations
  • Service de Génétique Médicale, CHU de Nantes, Nantes 44093, France.

Publications (82)

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

American journal of human genetics
Avec: Francesca Mattioli , Gaelle Hayot , Nathalie Drouot , Jérémie Courraud , Maria-Victoria Hinckelmann , Frederic Tran Mau-Them , Chantal Sellier , Alica Goldman , Aida Telegrafi , Alicia Boughton , Candace Gamble , Sebastien Moutton , Angélique Quartier , Nolwenn Jean , Paul Van Ness , Sarah Grotto , Sophie Nambot , Ganka Douglas , Yue Cindy Si , Jamel Chelly , Zohra Shad , Elisabeth Kaplan , Richard Dineen , Christelle Golzio , Nicolas Charlet-Berguerand , Jean-Louis Mandel , Amélie Piton

iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.

Stem cell research
Avec: Vincent Gatinois , Romain Desprat , Fabienne Becker , Lydiane Pichard , Florence Bernex , Franck Pellestor , Jean-Marc Lemaitre

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.

American journal of human genetics
Avec: Noriko Miyake , Hidehisa Takahashi , Kazuyuki Nakamura , Yoko Hiraki , Eriko Koshimizu , Masaaki Shiina , Kazunori Sasaki , Hidefumi Suzuki , Ryota Abe , Yayoi Kimura , Tomoko Akiyama , Shin-Ichi Tomizawa , Tomonori Hirose , Kohei Hamanaka , Satoko Miyatake , Satomi Mitsuhashi , Takeshi Mizuguchi , Atsushi Takata , Kazuyuki Obo , Mitsuhiro Kato , Kazuhiro Ogata , Naomichi Matsumoto

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clinical genetics
Avec: Varoona Bizaoui , Caroline Michot , Geneviève Baujat , Cyril Amouroux , Sabine Baron , Yline Capri , Martine Cohen-Solal , Corinne Collet , Anne Dieux , David Geneviève , Sophie Monnot , Massimiliano Rossi , Anya Rothenbuhler , Elise Schaefer , Valérie Cormier-Daire

Phenotype delineation of ZNF462 related syndrome.

American journal of medical genetics. Part A
Avec: Paul Kruszka , Tommy Hu , Sungkook Hong , Rebecca Signer , Benjamin Cogné , 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

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mathilde Nizon , Vincent Laugel , Kevin M Flanigan , Matthew Pastore , Megan A Waldrop , Jill A Rosenfeld , Ronit Marom , Rui Xiao , Amanda Gerard , Olivier Pichon , Cédric Le Caignec , Marion Gérard , Klaus Dieterich , Megan Truitt Cho , Kirsty McWalter , Susan Hiatt , Michelle L Thompson , Stéphane Bézieau , Alexandrea Wadley , Klaas J Wierenga , Jean-Marc Egly ,

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Human mutation
Avec: Nicolas Chatron , Kevin Cassinari , Olivier Quenez , Stéphanie Baert-Desurmont , Claire Bardel , Marie-Pierre Buisine , Eduardo Calpena , Yline Capri , Jordi Corominas Galbany , Flavie Diguet , Patrick Edery , Audrey Labalme , Cedric Le Caignec , Jonathan Lévy , François Lecoquierre , Pierre Lindenbaum , Olivier Pichon , Pierre-Antoine Rollat-Farnier , Thomas Simonet , Pascale Saugier-Veber , Anne-Claude Tabet , Annick Toutain , Andrew O M Wilkie , Gaetan Lesca , Damien Sanlaville , Gaël Nicolas , Caroline Schluth-Bolard

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.

British journal of haematology
Avec: Cyrielle Fouquet , Marie-Amelyne Le Rouzic , Thierry Leblanc , Fanny Fouyssac , Guy Leverger , Laila Hessissen , Sandrine Marlin , Emmanuelle Bourrat , Mony Fahd , Emmanuel Raffoux , Jean-Pierre Vannier , Nadja Jäkel , Ralf Knoefler , Valerie Triolo , Marlene Pasquet , Sophie Bayart , Isabelle Thuret , Patrick Lutz , Christiane Vermylen , Mohamed Touati , Christian Rose , Thomas Matthes , Caroline Kannengiesser , Stephane Ducassou

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 , 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 , Benjamin Cogné , 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 , Benjamin Cogné , Anne Saint-Martin , Anna C E Hurst , Yushuang Hu , Olaf Bodamer , Julien Thevenon , Christina Y Hung , 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

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

Human mutation
Avec: Hui Liu , Anna-Gaëlle Giguet-Valard , Thomas Simonet , Emmanuelle Szenker-Ravi , Laetitia Lambert , Catherine Vincent-Delorme , Sophie Scheidecker , Mélanie Fradin , Fanny Morice-Picard , Sophie Naudion , Viorica Ciorna-Monferrato , Estelle Colin , Florence Fellmann , Sophie Blesson , Pierre-Simon Jouk , Christine Francannet , Florence Petit , Sébastien Moutton , Daphné Lehalle , Nicolas Chassaing , Loubna El Zein , Anne Bazin , Claire Bénéteau , Tania Attié-Bitach , Sylvie M Hanu , Marie-Pierre Brechard , Jean Chiesa , Laurent Pasquier , Caroline Rooryck-Thambo , Lionel Van Maldergem , Christelle Cabrol , Salima El Chehadeh , Alexandre Vasiljevic , Carine Abel , Julien Thevenon , Sylvie Di Filippo , Adeline Vigouroux-Castera , Jocelyne Attia , Chloé Quelin , Sylvie Odent , Juliette Piard , Fabienne Giuliano , Audrey Putoux , Philippe Khau Van Kien , Catherine Yardin , Renaud Touraine , Bruno Reversade , Patrice Bouvagnet

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Eline A Verberne , Shuxiang Goh , Jade England , Manon van Ginkel , Louise Rafael-Croes , Saskia Maas , Abeltje Polstra , Yuri A Zarate , Katherine A Bosanko , Kieran B Pechter , Emma Bedoukian , Kosuke Izumi , Ayeshah Chaudhry , Nathaniel H Robin , Megan Boothe , Natalie C Lippa , Vimla Aggarwal , Darryl C De Vivo , Anna Lehman , Causes Study , Sylvia Stockler , Ange-Line Bruel , Jennifer Lemons , David F Rodriguez-Buritica , Christopher M Richmond , Zornitza Stark , Pankaj B Agrawal , R Frank Kooy , Marije E C Meuwissen , David A Koolen , Rolf Pfundt , Agne Lieden , Britt-Marie Anderlid , Dagmar Glatz , Marcel M A M Mannens , Madhura Bakshi , Frédérick A Mallette , Mieke M van Haelst , Philippe M Campeau

Increasing knowledge in

Journal of medical genetics
Avec: Eloïse Giabicani , Marjolaine Willems , Virginie Steunou , Sandra Chantot-Bastaraud , Nathalie Thibaud , Walid Abi Habib , Salah Azzi , Bich Lam , Laurence Bérard , Hélène Bony-Trifunovic , Cécile Brachet , Elise Brischoux-Boucher , Emmanuelle Caldagues , Regis Coutant , Marie-Laure Cuvelier , Georges Gelwane , Isabelle Guemas , Muriel Houang , Claire Jeandel , James Lespinasse , Catherine Naud-Saudreau , Monique Jesuran-Perelroizen , Laurence Perrin , Juliette Piard , Claire Sechter , Pierre-François Souchon , Caroline Storey , Domitille Thomas , Yves Le Bouc , Sylvie Rossignol , Irène Netchine , Frédéric Brioude

Neurology. Genetics
Avec: Katrine M Johannesen , Elena Gardella , Cathrine E Gjerulfsen , Allan Bayat , Rob P W Rouhl , Margot Reijnders , Sandra Whalen , Boris Keren , Julien Buratti , Thomas Courtin , Klaas J Wierenga , Amélie Piton , Laurence Faivre , Aurore Garde , Sébastien Moutton , Frédéric Tran-Mau-Them , Anne-Sophie Denommé-Pichon , Christine Coubes , Austin Larson , Michael J Esser , Juan Pablo Appendino , Walla Al-Hertani , Beatriz Gamboni , Alejandra Mampel , Lía Mayorga , Alessandro Orsini , Alice Bonuccelli , Agnese Suppiej , Julien Van-Gils , Julie Vogt , Simona Damioli , Lucio Giordano , Stephanie Moortgat , Elaine Wirrell , Sarah Hicks , Usha Kini , Nathan Noble , Helen Stewart , Shailesh Asakar , Julie S Cohen , SakkuBai R Naidu , Ashley Collier , Eva H Brilstra , Mindy H Li , Casey Brew , Stefania Bigoni , Davide Ognibene , Elisa Ballardini , Claudia Ruivenkamp , Raffaella Faggioli , Alexandra Afenjar , Diana Rodriguez , David Bick , Devorah Segal , David Coman , Boudewijn Gunning , Orrin Devinsky , Laurie A Demmer , Theresa Grebe , Dario Pruna , Ida Cursio , Lynn Greenhalgh , Claudio Graziano , Rahul Raman Singh , Gaetano Cantalupo , Marjolaine Willems , Sangeetha Yoganathan , Fernanda Góes , Richard J Leventer , Davide Colavito , Sara Olivotto , Barbara Scelsa , Andrea V Andrade , Kelly Ratke , Farha Tokarz , Atiya S Khan , Clothilde Ormieres , William Benko , Karen Keough , Sotirios Keros , Shanawaz Hussain , Ashlea Franques , Felicia Varsalone , Sabine Grønborg , Cyril Mignot , Delphine Heron , Caroline Nava , Arnaud Isapof , Felippe Borlot , Robyn Whitney , Anne Ronan , Nicola Foulds , Marta Somorai , John Brandsema , Katherine L Helbig , Ingo Helbig , Xilma R Ortiz-González , Holly Dubbs , Antonio Vitobello , Mel Anderson , Dominic Spadafore , David Hunt , Rikke S Møller , Guido Rubboli , Auteur inconnu

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 , 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

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mehdi Benkirane , Cecilia Marelli , Claire Guissart , Agathe Roubertie , Elizabeth Ollagnon , Ariane Choumert , Frédérique Fluchère , Fabienne Ory Magne , Yosra Halleb , Mathilde Renaud , Lise Larrieu , David Baux , Olivier Patat , Idriss Bousquet , Jean-Marie Ravel , Danielle Cuntz-Shadfar , Catherine Sarret , Xavier Ayrignac , Anne Rolland , Raoul Morales , Morgane Pointaux , Cathy Lieutard-Haag , Brice Laurens , Caroline Tillikete , Emilien Bernard , Martial Mallaret , Clarisse Carra-Dallière , Christine Tranchant , Pierre Meyer , Lena Damaj , Laurent Pasquier , Cecile Acquaviva , Annabelle Chaussenot , Karine Nguyen , William Camu , Alexandre Eusebio , Nicolas Carrière , Audrey Riquet , Eric Thouvenot , Victoria Gonzales , Emilie Carme , Shahram Attarian , Sylvie Odent , Anna Castrioto , Claire Ewenczyk , Perrine Charles , Laurent Kremer , Samira Sissaoui , Nadia Bahi-Buisson , Elsa Kaphan , Adrian Degardin , Bérénice Doray , Sophie Julia , Ganaëlle Remerand , Valerie Fraix , Lydia Abou Haidar , Leila Lazaro , Vincent Laugel , Frederic Villega , Cyril Charlin , Solène Frismand , Marinha Costa Moreira , Tatiana Witjas , Christine Francannet , Ulrike Walther-Louvier , Mélanie Fradin , Brigitte Chabrol , Joel Fluss , Eric Bieth , Giovanni Castelnovo , Sylvain Vergnet , Isabelle Meunier , Alain Verloes , Elise Brischoux-Boucher , Christine Coubes , David Geneviève , Nicolas Lebouc , Jean Phillipe Azulay , Mathieu Anheim , Cyril Goizet , François Rivier , Pierre Labauge , Patrick Calvas , Michel Koenig

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 , 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

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 , Benjamin Cogné , 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 , 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 , Benjamin Cogné

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 , Benjamin Cogné , 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 , 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

Episignature Mapping of

International journal of molecular sciences
Avec: Liselot van der Laan , Kathleen Rooney , Mariëlle Alders , Raissa Relator , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Peter Lauffer , Mio Aerden , Miel Theunis , Eric Legius , Matthew L Tedder , Lisenka E L M Vissers , Saskia Koene , Claudia Ruivenkamp , Mariette J V Hoffer , Dagmar Wieczorek , Nuria C Bramswig , Theresia Herget , Vanesa López González , Fernando Santos-Simarro , Pernille M Tørring , Anne-Sophie Denomme-Pichon , Boris Keren , Sophie Julia , Elise Schaefer , Christine Francannet , Pierre-Yves Maillard , Mala Misra-Isrie , Hilde Van Esch , Marcel M A M Mannens , Bekim Sadikovic , Mieke M van Haelst , Peter Henneman

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Yoeri Sleyp , Irene Valenzuela , Andrea Accogli , Katleen Ballon , Bruria Ben-Zeev , Samuel F Berkovic , Martin Broly , Patrick Callaerts , Raymond C Caylor , Perrine Charles , Nicolas Chatron , Lior Cohen , Antonietta Coppola , Dawn Cordeiro , Claudia Cuccurullo , Ivon Cuscó , Janette diMonda , Ramon Duran-Romaña , Nina Ekhilevitch , Paula Fernández-Alvarez , Christopher T Gordon , Boris Keren , Gaetan Lesca , Jarymke Maljaars , Saadet Mercimek-Andrews , Michelle M Morrow , Alison M Muir , Auteur inconnu , Frederic Rousseau , Vincenzo Salpietro , Ingrid E Scheffer , Rhonda E Schnur , Joost Schymkowitz , Erika Souche , Jean Steyaert , Elliot S Stolerman , Jaime Vengoechea , Dorothée Ville , Camerun Washington , Karin Weiss , Rinat Zaid , Lynette G Sadleir , Heather C Mefford , Hilde Peeters

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

medRxiv : the preprint server for health sciences
Avec: Corrine Smolen , Matthew Jensen , Lisa Dyer , Lucilla Pizzo , Anastasia Tyryshkina , Deepro Banerjee , Laura Rohan , Emily Huber , Laila El Khattabi , Paolo Prontera , Jean-Hubert Caberg , Anke Van Dijck , Charles Schwartz , Laurence Faivre , Patrick Callier , Anne-Laure Mosca-Boidron , Mathilde Lefebvre , Kate Pope , Penny Snell , Paul J Lockhart , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Giuseppa Maria Luana Mandarà , Maria Grazia Bruccheri , Olivier Pichon , Cedric Le Caignec , Radka Stoeva , Silvestre Cuinat , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Ashley Nordsletten , Dominique Martin-Coignard , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Jane Juusola , Santhosh Girirajan

Growth charts in DYRK1A syndrome.

American journal of medical genetics. Part A
Avec: Pierre-Louis Lanvin , Thomas Goronflot , Mathilde Nizon , Benjamin Durand , Salima El Chehadeh , David Geneviève , Valentin Ruault , Mélanie Fradin , Laurent Pasquier , Julien Thévenon , Bruno Delobel , Lydie Burglen , Alexandra Afenjar , Laurence Faivre , Christine Francannet , Anne-Marie Guerrot , Alice Goldenberg , Sandra Mercier , Delphine Héron , Daphné Lehalle , Cyril Mignot , Isabelle Marey , Perrine Charles , Sébastien Moutton , Stéphane Bézieau , Allan Bayat , Amélie Piton , Marjolaine Willems , Marie Vincent

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 , 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 , 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

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Epilepsia
Avec: Valentina Cetica , Tiziana Pisano , Gaetan Lesca , Dana Marafi , Laura Licchetta , Florence Riccardi , Davide Mei , Hon-Yin B Chung , Allan Bayat , Meena Balasubramanian , Daniel H Lowenstein , Milda Endzinienė , Maha Alotaibi , Nathalie Villeneuve , Julia Jacobs , Roberta Solazzi , Nicolette S den Hollander , Dragan Marjanovic , Christelle Rougeot-Jung , Julien Jung , Marion Lesieur-Sebellin , Andrea Accogli , Vincenzo Salpietro , Nebal W Saadi , Eleni Panagiotakaki , Thomas Foiadelli , Sylvia Redon , Meng-Han Tsai , Francesca Bisulli , Trine B Hammer , James R Lupski , Elena Parrini , Renzo Guerrini , Auteur inconnu

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

American journal of human genetics
Avec: Corrine Smolen , Matthew Jensen , Lisa Dyer , Lucilla Pizzo , Anastasia Tyryshkina , Deepro Banerjee , Laura Rohan , Emily Huber , Laila El Khattabi , Paolo Prontera , Jean-Hubert Caberg , Anke Van Dijck , Charles Schwartz , Laurence Faivre , Patrick Callier , Anne-Laure Mosca-Boidron , Mathilde Lefebvre , Kate Pope , Penny Snell , Paul J Lockhart , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Giuseppa Maria Luana Mandarà , Maria Grazia Bruccheri , Olivier Pichon , Cedric Le Caignec , Radka Stoeva , Silvestre Cuinat , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Ashley Nordsletten , Dominique Martin-Coignard , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Jane Juusola , Santhosh Girirajan

3q29 duplications: A cohort of 46 patients and a literature review.

American journal of medical genetics. Part A
Avec: Marie Massier , Martine Doco-Fenzy , Matthieu Egloff , Xavier Le Guillou , Gwenaël Le Guyader , Sylvia Redon , Caroline Benech , Karine Le Millier , Kevin Uguen , Juliette Ropars , Elise Sacaze , Séverine Audebert-Bellanger , Andreea Apetrei , Arnaud Molin , Nicolas Gruchy , Aline Vincent-Devulder , Marta Spodenkiewicz , Clémence Jacquin , Gauthier Loron , Marie Thibaud , Geoffroy Delplancq , Sophie Brisset , Marion Lesieur-Sebellin , Valérie Malan , Serge Romana , Marlène Rio , Sandrine Marlin , Jeanne Amiel , Valentine Marquet , Benjamin Dauriat , Kamran Moradkhani , Sandra Mercier , Stéphanie Arpin , Mathilde Pujalte , Guillaume Jedraszak , Céline Pebrel-Richard , Gaëlle Salaun , Fanny Laffargue , John Boudjarane , Chantal Missirian , Nora Chelloug , Annick Toutain , Jean Chiesa , Boris Keren , Cyril Mignot , Evan Gouy , Sylvie Jaillard , Emilie Landais , Céline Poirsier

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 , 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

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.

Molecular autism
Avec: Joana Maria Almeida Osório , Borja Rodríguez-Herreros , David Romascano , Vincent Junod , Aline Habegger , Aurélie Pain , Sonia Richetin , Paola Yu , Lionel Van Maldergem , Linda Pons , Sabine Manificat , Nadia Chabane , Marine Jequier Gygax , Anne Manuela Maillard

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 , 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

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 ,

Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.

Pediatric dermatology
Avec: Louise Muguet Guenot , Helene Aubert , Annick Toutain , Juliette Mazereeuw-Hautier , Corinne Collet , Emmanuelle Bourrat , Marie Denis Musquer , Sébastien Barbarot , Auteur inconnu

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

American journal of human genetics
Avec: Anne H O'Donnell-Luria , Lynn S Pais , Víctor Faundes , Jordan C Wood , Abigail Sveden , Victor Luria , Rami Abou Jamra , Andrea Accogli , Kimberly Amburgey , Britt Marie Anderlid , Silvia Azzarello-Burri , Alice A Basinger , Claudia Bianchini , Lynne M Bird , Rebecca Buchert , Wilfrid Carre , Sophia Ceulemans , Perrine Charles , Helen Cox , Lisa Culliton , Aurora Currò , Auteur inconnu , Florence Demurger , James J Dowling , Benedicte Duban-Bedu , Christèle Dubourg , Saga Elise Eiset , Luis F Escobar , Alessandra Ferrarini , Tobias B Haack , Mona Hashim , Solveig Heide , Katherine L Helbig , Ingo Helbig , Raul Heredia , Delphine Héron , Amy R Jonasson , Pascal Joset , Boris Keren , Fernando Kok , Hester Y Kroes , Alinoë Lavillaureix , Xin Lu , Saskia M Maas , Gustavo H B Maegawa , Carlo L M Marcelis , Paul R Mark , Marcelo R Masruha , Heather M McLaughlin , Kirsty McWalter , Esther U Melchinger , Saadet Mercimek-Andrews , Caroline Nava , Manuela Pendziwiat , Richard Person , Gian Paolo Ramelli , Luiza L P Ramos , Anita Rauch , Caitlin Reavey , Alessandra Renieri , Angelika Rieß , Amarilis Sanchez-Valle , Shifteh Sattar , Carol Saunders , Niklas Schwarz , Thomas Smol , Myriam Srour , Katharina Steindl , Steffen Syrbe , Jenny C Taylor , Aida Telegrafi , Isabelle Thiffault , Doris A Trauner , Helio van der Linden , Silvana van Koningsbruggen , Laurent Villard , Ida Vogel , Julie Vogt , Yvonne G Weber , Ingrid M Wentzensen , Elysa Widjaja , Jaroslav Zak , Samantha Baxter , Siddharth Banka , Lance H Rodan

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.

European journal of human genetics : EJHG
Avec: Patrick R Blackburn , Cinthya J Zepeda-Mendoza , Teresa M Kruisselbrink , Lisa A Schimmenti , Sixto García-Miñaur , María Palomares , Julián Nevado , María A Mori , Guylène Le Meur , Eric W Klee , Cédric Le Caignec , Pablo Lapunzina , Dusica Babovic-Vuksanovic

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.

European journal of medical genetics
Avec: Mathilde Pacault , Mathilde Nizon , Olivier Pichon , Marie Vincent , Cédric Le Caignec ,

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.

Human molecular genetics
Avec: Francesca Mattioli , Omar Abdul-Rahman , Andrew Gunter , Lijia Huang , Raman Kumar , Chandree Beaulieu , Jozef Gecz , Micheil Innes , Jean-Louis Mandel , Amélie Piton

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 , 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

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 , Benjamin Cogné , 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 , 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

First French study relative to preconception genetic testing: 1500 general population participants' opinion.

Orphanet journal of rare diseases
Avec: Valérie Bonneau , Mathilde Nizon , Xenia Latypova , Aurélie Gaultier , Eugénie Hoarau , Stéphane Bézieau , Guy Minguet , Mauro Turrini , Maud Jourdain ,

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Acta neuropathologica communications
Avec: Valérie Biancalana , John Rendu , Annabelle Chaussenot , Helen Mecili , Eric Bieth , Mélanie Fradin , Sandra Mercier , Maud Michaud , Marie-Christine Nougues , Laurent Pasquier , Sabrina Sacconi , Norma B Romero , Pascale Marcorelles , François Jérôme Authier , Antoinette Gelot Bernabe , Emmanuelle Uro-Coste , Claude Cances , Armelle Magot , Marie-Christine Minot-Myhie , Yann Péréon , Julie Perrier-Boeswillwald , Gilles Bretaudeau , Nicolas Dondaine , Alison Bouzenard , Mégane Pizzimenti , Bruno Eymard , Ana Ferreiro , Jocelyn Laporte , Julien Fauré , Johann Böhm

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

European journal of human genetics : EJHG
Avec: Anne-Sophie Denommé-Pichon , Antonio Vitobello , Robert Olaso , Alban Ziegler , Médéric Jeanne , Frédéric Tran Mau-Them , Victor Couturier , Caroline Racine , Charlotte Poë , Thibaud Jouan , Anne Boland , Bertrand Fin , Delphine Bacq-Daian , Céline Besse , Aurore Garde , Adeline Prost , Philippine Garret , Émilie Tisserant , Julian Delanne , Sophie Nambot , Aurélien Juven , Magali Gorce , Mathilde Nizon , Marie Vincent , Sébastien Moutton , Mélanie Fradin , Alinoë Lavillaureix , Paul Rollier , Yline Capri , Julien Van-Gils , Tiffany Busa , Sabine Sigaudy , Laurent Pasquier , Magalie Barth , Ange-Line Bruel , Cyril Flamant , Clément Prouteau , Dominique Bonneau , Annick Toutain , Corinne Chantegret , Patrick Callier , Christophe Philippe , Yannis Duffourd , Jean-François Deleuze , Arthur Sorlin , Laurence Faivre , Christel Thauvin-Robinet

[Genetic screening is essential in polycystic kidney disease: It is never too late!]

Nephrologie & therapeutique
Avec: Clémence Petit , Diego Cantarovich , Virginie Langs , Lucile Figueres

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 , Benjamin Cogné , 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

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 , 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 , 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 , 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

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 , Richard Redon , Jean-Jacques Schott , Sébastien Küry , Stéphane Bézieau , Anne H Monsoro-Burq , Frédéric Ebstein

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 , 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

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 , Sébastien Küry , Frédéric Ebstein

Adult syndromology: challenges, opportunities and perspectives:

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Avec: Ariane Schmetz , Maria Juliana Ballesta-Martínez , Ana Berta Sousa , Dagmar Wieczorek , Nuria C Bramswig

Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review.

Frontiers in medicine
Avec: Romain Dalla-Torre , Vincent Crenn , Pierre Menu , Pascale Guillot , Benoit Le Goff , Loic Geffroy , Marc Dauty , Alban Fouasson-Chailloux

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cosima M Schmid , Anne Gregor , Gregory Costain , Chantal F Morel , Lauren Massingham , Jennifer Schwab , Chloé Quélin , Marie Faoucher , Julie Kaplan , Rebecca Procopio , Carol J Saunders , Ana S A Cohen , Gabrielle Lemire , Stephanie Sacharow , Anne O'Donnell-Luria , Ranit Jaron Segal , Jessica Kianmahd Shamshoni , Daniela Schweitzer , Darius Ebrahimi-Fakhari , Kristin Monaghan , Timothy Blake Palculict , Melanie P Napier , Alice Tao , Kamran Moradkhani , André Reis , Heinrich Sticht , Auteur inconnu , Wendy K Chung , Christiane Zweier

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

Human genomics
Avec: Jean-Madeleine de Sainte Agathe , Mathilde Filser , 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 , Benjamin Cogné , 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 , Benjamin Cogné , 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

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 , 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

A wave of deep intronic mutations in X-linked Alport syndrome.

Kidney international
Avec: Marie Boisson , Christelle Arrondel , Nicolas Cagnard , Vincent Morinière , Zaïna Aït Arkoub , Hassan Saei , Laurence Heidet , Jessica Kachmar , Aurélie Hummel , Bertrand Knebelmann , Marie-Noëlle Bonnet-Dupeyron , Hassane Izzedine , Eric Legrand , Philippe Couarch , Olivier Gribouval , Christine Bole-Feysot , Mélanie Parisot , Patrick Nitschké , Corinne Antignac , Guillaume Dorval

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 , 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

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

NPJ genomic medicine
Avec: Josephina A N Meester , Anne Hebert , Maaike Bastiaansen , Laura Rabaut , Jarl Bastianen , Nele Boeckx , Kathryn Ashcroft , Paldeep S Atwal , Antoine Benichou , Clarisse Billon , Jan D Blankensteijn , Paul Brennan , Stephanie A Bucks , Ian M Campbell , Solène Conrad , Stephanie L Curtis , Majed Dasouki , Carolyn L Dent , James Eden , Himanshu Goel , Verity Hartill , Arjan C Houweling , Nicola Jackson , Pieter Koopman , Anita Korpioja , Minna Kraatari-Tiri , Liina Kuulavainen , Kelvin Lee , Karen J Low , Alan C Lu , Morgan L McManus , Stephen P Oakley , James Oliver , Nicole M Organ , Eline Overwater , Nicole Revencu , Alison H Trainer , Bhavya Trivedi , Claire L S Turner , Rebecca Whittington , Andreas Zankl , Dominica Zentner , Lut Van Laer , Aline Verstraeten , Bart L Loeys

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 , Alisée Pengam , Benjamin Cogné , Daniel G MacArthur , Igor Ulitsky , Gemma L Carvill , Anne O'Donnell-Luria

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 , Benjamin Cogné , Stéphane Bézieau , Edward Blair , 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 , 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 , Cedric Le Caignec , Paweł Stankiewicz

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Journal of human genetics
Avec: Futoshi Sekiguchi , Yoshinori Tsurusaki , Nobuhiko Okamoto , Keng Wee Teik , Seiji Mizuno , Hiroshi Suzumura , Winnie Peitee Ong , Muzhirah Haniffa , Susan M White , Mari Matsuo , Kayoko Saito , Shubha Phadke , Tomoki Kosho , Patrick Yap , Manisha Goyal , Lorne A Clarke , Rani Sachdev , George McGillivray , Richard J Leventer , Chirag Patel , Takanori Yamagata , Hitoshi Osaka , Yoshiya Hisaeda , Hirofumi Ohashi , Kenji Shimizu , Keisuke Nagasaki , Junpei Hamada , Sumito Dateki , Takashi Sato , Yasutsugu Chinen , Tomonari Awaya , Takeo Kato , Kougoro Iwanaga , Masahiko Kawai , Takashi Matsuoka , Yoshikazu Shimoji , Tiong Yang Tan , Seema Kapoor , Nerine Gregersen , Massimiliano Rossi , Mathieu Marie-Laure , Lesley McGregor , Kimihiko Oishi , Lakshmi Mehta , Greta Gillies , Paul J Lockhart , Kate Pope , Anju Shukla , Katta Mohan Girisha , Ghada M H Abdel-Salam , David Mowat , David Coman , Ok Hwa Kim , Marie-Pierre Cordier , Kate Gibson , Jeff Milunsky , Jan Liebelt , Helen Cox , Salima El Chehadeh , Annick Toutain , Ken Saida , Hiromi Aoi , Gaku Minase , Naomi Tsuchida , Kazuhiro Iwama , Yuri Uchiyama , Toshifumi Suzuki , Kohei Hamanaka , Yoshiteru Azuma , Atsushi Fujita , Eri Imagawa , Eriko Koshimizu , Atsushi Takata , Satomi Mitsuhashi , Satoko Miyatake , Takeshi Mizuguchi , Noriko Miyake , Naomichi Matsumoto

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 , 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 ,

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Human mutation
Avec: Angélique Quartier , Jérémie Courraud , Thuong Thi Ha , George McGillivray , Katherine Rose , Nathalie Drouot , Marie-Armel Savidan , Claire Feger , Hélène Jagline , Jamel Chelly , Marie Shaw , Frédéric Laumonnier , Jozef Gecz , Jean-Louis Mandel , Amélie Piton

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

American journal of human genetics
Avec: Benjamin Cogné , 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 ,

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 , 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

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sandy Elbitar , Marjolijn Renard , Pauline Arnaud , Nadine Hanna , Marie-Paule Jacob , Dong-Chuan Guo , Ko Tsutsui , Marie-Sylvie Gross , Ketty Kessler , Laurent Tosolini , Vincenzo Dattilo , Sebastien Dupont , Jeremie Jonquet , Maud Langeois , Louise Benarroch , Melodie Aubart , Youmna Ghaleb , Yara Abou Khalil , Mathilde Varret , Petra El Khoury , Benoit Ho-Tin-Noé , Yves Alembik , Sébastien Gaertner , Laurent Gouya , Olivier Milleron , Kiyotoshi Sekiguchi , Dianna Milewicz , Julie De Backer , Carine Le Goff , Jean-Baptiste Michel , Guillaume Jondeau , Lynn Y Sakai , Catherine Boileau , Marianne Abifadel

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

Clinical genetics
Avec: Luisa Marsili , Eline Overwater , Nadine Hanna , Geneviève Baujat , Marieke J H Baars , Catherine Boileau , Dominique Bonneau , Anne Claire Brehin , Yline Capri , Ho Y Cheung , Eelco Dulfer , Marion Gerard , Laurent Gouya , Yvonne Hilhorst-Hofstee , Arjan C Houweling , Lauriane Le Gloan , Leonie A Menke , Sylvie Odent , Fanny Morice-Picard , Clemence Vanlerberghe , Els Voorhoeve , J Peter van Tintelen , Alessandra Maugeri , Pauline Arnaud

Polymicrogyria in a child with KCNMA1-related channelopathy.

Brain & development
Avec: Denis Graber , Eri Imagawa , Noriko Miyake , Naomichi Matsumoto , Satoko Miyatake , Marianne Graber ,

Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.

Clinical genetics
Avec: Jonathan Lévy , Guillaume Cogan , Anna Maruani , Arnaud Maillard , Céline Dupont , Séverine Drunat , Myriam Rachid , Paola Atzori , Richard Delorme , Sabatini Jeyarajah , Olivier Pichon , Kamran Moradkhani , Alain Verloes , Anne-Claude Tabet

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 , 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

DLG4-related synaptopathy: a new rare brain disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Agustí Rodríguez-Palmero , Melissa Maria Boerrigter , David Gómez-Andrés , Kimberly A Aldinger , Íñigo Marcos-Alcalde , Bernt Popp , David B Everman , Alysia Kern Lovgren , Stephanie Arpin , Vahid Bahrambeigi , Gea Beunders , Anne-Marie Bisgaard , V A Bjerregaard , Ange-Line Bruel , Thomas D Challman , Benjamin Cogné , Christine Coubes , Stella A de Man , Anne-Sophie Denommé-Pichon , Thomas J Dye , Frances Elmslie , Lars Feuk , Sixto García-Miñaúr , Tracy Gertler , Elisa Giorgio , Nicolas Gruchy , Tobias B Haack , Chad R Haldeman-Englert , Bjørn Ivar Haukanes , Juliane Hoyer , Anna C E Hurst , Maria Johansson Soller , Sulagna Kushary , Malin Kvarnung , Yuval E Landau , Kathleen A Leppig , Anna Lindstrand , Lotte Kleinendorst , Alex MacKenzie , Giorgia Mandrile , Bryce A Mendelsohn , Setareh Moghadasi , Jenny E Morton , Sebastien Moutton , Amelie J Müller , Melanie O'Leary , Marta Pacio-Míguez , Maria Palomares-Bralo , Sumit Parikh , Rolph Pfundt , Ben Pode-Shakked , Anita Rauch , Elena Repnikova , Anya Revah-Politi , Meredith J Ross , Claudia A L Ruivenkamp , Elisabeth Sarrazin , Juliann M Savatt , Agatha Schlüter , Bitten Schönewolf-Greulich , Zohra Shad , Charles Shaw-Smith , Joseph T Shieh , Motti Shohat , Stephanie Spranger , Heidi Thiese , Frederic Tran Mau-Them , Bregje van Bon , Ineke van de Burgt , Ingrid M B H van de Laar , Esmée van Drie , Mieke M van Haelst , Conny M van Ravenswaaij-Arts , Edgard Verdura , Antonio Vitobello , Stephan Waldmüller , Sharon Whiting , Christiane Zweier , Carlos E Prada , Bert B A de Vries , William B Dobyns , Simone F Reiter , Paulino Gómez-Puertas , Aurora Pujol , Zeynep Tümer

Ribosomopathies: New Therapeutic Perspectives.

Cells
Avec: Emilien Orgebin , François Lamoureux , Céline Charrier , Benjamin Ory , Frédéric Lézot , Marc Baud'huin

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Epilepsia
Avec: Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson , Gwenaël Le Guyader , Gaetan Lesca , Cyril Mignot , Martino Montomoli , Elena Parrini , Hervé Isnard , Anne Rolland , Boris Keren , Alexandra Afenjar , Nathalie Dorison , Lynette G Sadleir , Delphine Breuillard , Raphael Levy , Marlène Rio , Sophie Dupont , Susanna Negrin , Alberto Danieli , Emmanuel Scalais , Anne De Saint Martin , Salima El Chehadeh , Jamel Chelly , Alice Poisson , Anne-Sophie Lebre , Anca Nica , Sylvie Odent , Tayeb Sekhara , Vesna Brankovic , Alice Goldenberg , Pascal Vrielynck , Damien Lederer , Hélène Maurey , Gaetano Terrone , Claude Besmond , Laurence Hubert , Patrick Berquin , Thierry Billette de Villemeur , Jeremy L Freeman , Heather C Mefford , Candace T Myers , Katherine B Howell , Andrés Rodríguez-Sacristán Cascajo , Pierre Meyer , David Genevieve , Agnès Guët , Diane Doummar , Julien Durigneux , Marieke F van Dooren , Marie Claire Y de Wit , Marion Gerard , Isabelle Marey , Arnold Munnich , Renzo Guerrini , Ingrid E Scheffer , Edor Kabashi , Rima Nabbout

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jérémie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria Del Mar Muniz Moreno , Imene Boujelbene , Nathalie Drouot , Loréline Genschik , Elise Schaefer , Mathilde Nizon , Bénédicte Gerard , Marc Abramowicz , Benjamin Cogné , Lucas Bronicki , Lydie Burglen , Magalie Barth , Perrine Charles , Estelle Colin , Christine Coubes , Albert David , Bruno Delobel , Florence Demurger , Sandrine Passemard , Anne-Sophie Denommé , Laurence Faivre , Claire Feger , Mélanie Fradin , Christine Francannet , David Genevieve , Alice Goldenberg , Anne-Marie Guerrot , Katrine M Johannesen , Boris Keren , Maria Kibæk , Paul Kuentz , Michèle Mathieu-Dramard , Bénédicte Demeer , Julia Metreau , Rikke Steensbjerre Møller , Sébastien Moutton , Laurent Pasquier , Kristina Pilekær Sørensen , Laurence Perrin , Mathilde Renaud , Pascale Saugier , Marlène Rio , Joane Svane , Julien Thevenon , Frédéric Tran Mau Them , Cathrine Elisabeth Tronhjem , Antonio Vitobello , Valérie Layet , Stéphane Auvin , Khaoula Khachnaoui , Marie-Christine Birling , Séverine Drunat , Allan Bayat , Christèle Dubourg , Salima El Chehadeh , Christina Fagerberg , Cyril Mignot , Michel Guipponi , Thierry Bienvenu , Yann Herault , Julie Thompson , Marjolaine Willems , Jean-Louis Mandel , Rosanna Weksberg , Amélie Piton

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 , 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

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 ,

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Human molecular genetics
Avec: Amélie Cordovado , Martina Schaettin , Médéric Jeanne , Veranika Panasenkava , Anne-Sophie Denommé-Pichon , Boris Keren , Cyril Mignot , Martine Doco-Fenzy , Lance Rodan , Keri Ramsey , Vinodh Narayanan , Julie R Jones , Eloise J Prijoles , Wendy G Mitchell , Jillian R Ozmore , Kali Juliette , Erin Torti , Elizabeth A Normand , Leslie Granger , Andrea K Petersen , Margaret G Au , Juliann P Matheny , Chanika Phornphutkul , Mary-Kathryn Chambers , Joaquín-Alejandro Fernández-Ramos , Eduardo López-Laso , Michael C Kruer , Somayeh Bakhtiari , Marcella Zollino , Manuela Morleo , Giuseppe Marangi , Davide Mei , Tiziana Pisano , Renzo Guerrini , Raymond J Louie , Anna Childers , David B Everman , Betrand Isidor , Séverine Audebert-Bellanger , Sylvie Odent , Dominique Bonneau , Brigitte Gilbert-Dussardier , Richard Redon , Stéphane Bézieau , Frédéric Laumonnier , Esther T Stoeckli , Annick Toutain , Marie-Laure Vuillaume

Réseau de co-auteurs

Benjamin Cogné 23 collaborations
None None 21 collaborations
Stéphane Bézieau 18 collaborations
Mathilde Nizon 15 collaborations
Laurence Faivre 14 collaborations
Boris Keren 14 collaborations
Sébastien Küry 14 collaborations
Thomas Besnard 11 collaborations
Cyril Mignot 10 collaborations
Benjamin Cogne 10 collaborations
Wallid Deb 10 collaborations
Marie Vincent 10 collaborations
Annick Toutain 9 collaborations
Eric W Klee 9 collaborations
Sandra Mercier 9 collaborations
Olivier Pichon 8 collaborations
Mélanie Fradin 8 collaborations
Sylvie Odent 8 collaborations
Laurent Pasquier 8 collaborations
Anne-Sophie Denommé-Pichon 8 collaborations
Amélie Piton 7 collaborations
Noriko Miyake 7 collaborations
Naomichi Matsumoto 7 collaborations
Antonio Vitobello 7 collaborations
Salima El Chehadeh 7 collaborations
Alexandra Afenjar 7 collaborations
Dominique Bonneau 7 collaborations
Jill A Rosenfeld 6 collaborations
Kirsty McWalter 6 collaborations
Cedric Le Caignec 6 collaborations
Gaetan Lesca 6 collaborations
Usha Kini 6 collaborations
Sébastien Moutton 6 collaborations
Julien Thevenon 6 collaborations
Ange-Line Bruel 6 collaborations
Marjolaine Willems 6 collaborations
Allan Bayat 6 collaborations
Wendy K Chung 6 collaborations
Perrine Charles 6 collaborations
Erin Torti 6 collaborations
Silvestre Cuinat 6 collaborations
Heather C Mefford 6 collaborations
Richard Redon 6 collaborations
Virginie Vignard 6 collaborations
Frédéric Ebstein 6 collaborations
Yline Capri 5 collaborations
David Geneviève 5 collaborations
Christine Francannet 5 collaborations
Christine Coubes 5 collaborations
Caroline Nava 5 collaborations
Marlène Rio 5 collaborations
Tatjana Bierhals 5 collaborations
Rolph Pfundt 5 collaborations
Andrea Accogli 5 collaborations
Alice Goldenberg 5 collaborations
Ingrid M Wentzensen 5 collaborations
Frederic Tran Mau-Them 4 collaborations
Sebastien Moutton 4 collaborations
Jean-Louis Mandel 4 collaborations
Elise Schaefer 4 collaborations
Nicolas Chatron 4 collaborations
François Lecoquierre 4 collaborations
Maja Hempel 4 collaborations
Zeynep Tümer 4 collaborations
Daphné Lehalle 4 collaborations
Christel Thauvin-Robinet 4 collaborations
Claire Bénéteau 4 collaborations
David A Koolen 4 collaborations
Mieke M van Haelst 4 collaborations
Philippe M Campeau 4 collaborations
Anne-Marie Guerrot 4 collaborations
Delphine Héron 4 collaborations
Thomas Smol 4 collaborations
Yue Si 4 collaborations
Evan E Eichler 4 collaborations
Irene Valenzuela 4 collaborations
Jozef Gecz 4 collaborations
Ingrid E Scheffer 4 collaborations
Rhonda E Schnur 4 collaborations
Kate Pope 4 collaborations
Paul J Lockhart 4 collaborations
David J Amor 4 collaborations
André Reis 4 collaborations
Sylvia Redon 4 collaborations
Christiane Zweier 4 collaborations
James R Lupski 4 collaborations
Renzo Guerrini 4 collaborations
Séverine Audebert-Bellanger 4 collaborations
Ruth Armstrong 4 collaborations
Susan M White 4 collaborations
Ruth Newbury-Ecob 4 collaborations
Dusica Babovic-Vuksanovic 4 collaborations
Patrick R Blackburn 4 collaborations
Paul Kuentz 4 collaborations
Alban Ziegler 4 collaborations
Rami Abou Jamra 4 collaborations
Anita Rauch 4 collaborations
Tiong Yang Tan 4 collaborations
Chirag Patel 4 collaborations
Frédéric Laumonnier 4 collaborations
Nathalie Drouot 3 collaborations
Jérémie Courraud 3 collaborations
Aida Telegrafi 3 collaborations
Sophie Nambot 3 collaborations
Jamel Chelly 3 collaborations
Eriko Koshimizu 3 collaborations
Satoko Miyatake 3 collaborations
Geneviève Baujat 3 collaborations
Massimiliano Rossi 3 collaborations
Koen L I van Gassen 3 collaborations
Cédric Le Caignec 3 collaborations
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