Alexandra Afenjar

Affiliations
  • APHP, Centre de référence des malformations et maladies congénitales du cervelet Département de génétique et embryologie médicale, GRCn°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012, Paris, France.

Publications (70)

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Nature communications
Avec: Hui Guo , Elisa Bettella , Paul C Marcogliese , Rongjuan Zhao , Jonathan C Andrews , Tomasz J Nowakowski , Madelyn A Gillentine , Kendra Hoekzema , Tianyun Wang , Huidan Wu , Sharayu Jangam , Cenying Liu , Hailun Ni , Marjolein H Willemsen , Bregje W van Bon , Tuula Rinne , Servi J C Stevens , Tjitske Kleefstra , Han G Brunner , Helger G Yntema , Min Long , Wenjing Zhao , Zhengmao Hu , Cindy Colson , Nicolas Richard , Charles E Schwartz , Corrado Romano , Lucia Castiglia , Maria Bottitta , Shweta U Dhar , Deanna J Erwin , Lisa Emrick , Boris Keren , Alexandra Afenjar , Baosheng Zhu , Bing Bai , Pawel Stankiewicz , Kristin Herman , Auteur inconnu , Saadet Mercimek-Andrews , Jane Juusola , Amy B Wilfert , Rami Abou Jamra , Benjamin Büttner , Heather C Mefford , Alison M Muir , Ingrid E Scheffer , Brigid M Regan , Stephen Malone , Jozef Gecz , Jan Cobben , Marjan M Weiss , Quinten Waisfisz , Emilia K Bijlsma , Mariëtte J V Hoffer , Claudia A L Ruivenkamp , Stefano Sartori , Fan Xia , Jill A Rosenfeld , Raphael A Bernier , Michael F Wangler , Shinya Yamamoto , Kun Xia , Alexander P A Stegmann , Hugo J Bellen , Alessandra Murgia , Evan E Eichler

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

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

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

American journal of human genetics
Avec: Lisenka E L M Vissers , Sreehari Kalvakuri , Elke de Boer , Sinje Geuer , Machteld Oud , Inge van Outersterp , Michael Kwint , Melde Witmond , Simone Kersten , Daniel L Polla , Dilys Weijers , Amber Begtrup , Kirsty McWalter , Anna Ruiz , Elisabeth Gabau , Jenny E V Morton , Christopher Griffith , Karin Weiss , Candace Gamble , James Bartley , Hilary J Vernon , Kendra Brunet , Claudia Ruivenkamp , Sarina G Kant , Paul Kruszka , Austin Larson , Alexandra Afenjar , Thierry Billette de Villemeur , Kimberly Nugent , Auteur inconnu , F Lucy Raymond , Hanka Venselaar , Florence Demurger , Claudia Soler-Alfonso , Dong Li , Elizabeth Bhoj , Ian Hayes , Nina Powell Hamilton , Ayesha Ahmad , Rachel Fisher , Myrthe van den Born , Marjolaine Willems , Arthur Sorlin , Julian Delanne , Sebastien Moutton , Philippe Christophe , Frederic Tran Mau-Them , Antonio Vitobello , Himanshu Goel , Lauren Massingham , Chanika Phornphutkul , Jennifer Schwab , Boris Keren , Perrine Charles , Maaike Vreeburg , Lenika De Simone , George Hoganson , Maria Iascone , Donatella Milani , Lucie Evenepoel , Nicole Revencu , D Isum Ward , Kaitlyn Burns , Ian Krantz , Sarah E Raible , Jill R Murrell , Kathleen Wood , Megan T Cho , Hans van Bokhoven , Maximilian Muenke , Tjitske Kleefstra , Rolf Bodmer , Arjan P M de Brouwer

Delineating the genotypic and phenotypic spectrum of

Journal of medical genetics
Avec: Anushree Acharya , Haluk Kavus , Patrick Dunn , Abdul Nasir , Leandra Folk , Kara Withrow , Ingrid M Wentzensen , Maura R Z Ruzhnikov , Camille Fallot , Thomas Smol , Mélanie Rama , Kathleen Brown , Sandra Whalen , Alban Ziegler , Magali Barth , Anna Chassevent , Constance Smith-Hicks , Alexandra Afenjar , Thomas Courtin , Solveig Heide , Esperanza Font-Montgomery , Caleb Heid , J Austin Hamm , Donald R Love , Farouq Thabet , Vinod K Misra , Mitch Cunningham , Suzanne M Leal , Irma Jarvela , Elizabeth A Normand , Fanggeng Zou , Mayada Helal , Boris Keren , Erin Torti , Wendy K Chung , Isabelle Schrauwen

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.

American journal of medical genetics. Part A
Avec: Felix Marbach , Beata S Lipska-Ziętkiewicz , Agata Knurowska , Vincent Michaud , Henri Margot , James Lespinasse , Frédéric Tran Mau Them , Christine Coubes , Joohyun Park , Sarah Grosch , Cristiana Roggia , Ute Grasshoff , Louisa Kalsner , Anne-Sophie Denommé-Pichon , Alexandra Afenjar , Bénédicte Héron , Boris Keren , Pilar Caro , Christian P Schaaf

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 , Benjamin Cogné , 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

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Morten Alstrup , Fabrizia Cesca , Alicja Krawczun-Rygmaczewska , Celia López-Menéndez , Julia Pose-Utrilla , Filip Christian Castberg , Mia Ortved Bjerager , Candice Finnila , Michael C Kruer , Somayeh Bakhtiari , Sergio Padilla-Lopez , Linda Manwaring , Boris Keren , Alexandra Afenjar , Daniele Galatolo , Roberta Scalise , Fillippo M Santorelli , Amelle Shillington , Myriam Vezain , Jelena Martinovic , Cathy Stevens , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Isabelle Thiffault , Tomi Pastinen , Kristin Baranano , Angela Lee , Jorge Granadillo , Megan R Glassford , Catherine E Keegan , Nicole Matthews , Pascale Saugier-Veber , Teresa Iglesias , Elsebet Østergaard

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

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

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

American journal of human genetics
Avec: Zelha Nil , Ashish R Deshwar , Yan Huang , Scott Barish , Xi Zhang , Sanaa Choufani , Polona Le Quesne Stabej , Ian Hayes , Patrick Yap , Chad Haldeman-Englert , Carolyn Wilson , Trine Prescott , Kristian Tveten , Arve Vøllo , Devon Haynes , Patricia G Wheeler , Jessica Zon , Cheryl Cytrynbaum , Rebekah Jobling , Moira Blyth , Siddharth Banka , Alexandra Afenjar , Cyril Mignot , Florence Robin-Renaldo , Boris Keren , Oguz Kanca , Xiao Mao , Daniel J Wegner , Kathleen Sisco , Marwan Shinawi , Auteur inconnu , Michael F Wangler , Rosanna Weksberg , Shinya Yamamoto , Gregory Costain , Hugo J Bellen

Lessons learned from 40 novel PIGA patients and a review of the literature.

Epilepsia
Avec: Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Christel Depienne , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , Cécile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , Valérie Layet , Gaetan Lesca , Kim L McBride , Marije Meuwissen , Cyril Mignot , Martino Montomoli , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , Krzysztoł Szczałuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias Brünger , Ingo Helbig , Peter Krawitz , Rikke S Møller

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

European journal of human genetics : EJHG
Avec: Sandra Jansen , Ilse M van der Werf , A Micheil Innes , Alexandra Afenjar , Pankaj B Agrawal , Ilse J Anderson , Paldeep S Atwal , Ellen van Binsbergen , Marie-José van den Boogaard , Lucia Castiglia , Zeynep H Coban-Akdemir , Anke van Dijck , Diane Doummar , Albertien M van Eerde , Anthonie J van Essen , Koen L van Gassen , Maria J Guillen Sacoto , Mieke M van Haelst , Ivan Iossifov , Jessica L Jackson , Elizabeth Judd , Charu Kaiwar , Boris Keren , Eric W Klee , Jolien S Klein Wassink-Ruiter , Marije E Meuwissen , Kristin G Monaghan , Sonja A de Munnik , Caroline Nava , Charlotte W Ockeloen , Rosa Pettinato , Hilary Racher , Tuula Rinne , Corrado Romano , Victoria R Sanders , Rhonda E Schnur , Eric J Smeets , Alexander P A Stegmann , Asbjørg Stray-Pedersen , David A Sweetser , Paulien A Terhal , Kristian Tveten , Grace E VanNoy , Petra F de Vries , Jessica L Waxler , Marcia Willing , Rolph Pfundt , Joris A Veltman , R Frank Kooy , Lisenka E L M Vissers , Bert B A de Vries

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

European journal of human genetics : EJHG
Avec: Flavien Rouxel , Kevin Yauy , Guilaine Boursier , Vincent Gatinois , Mouna Barat-Houari , Elodie Sanchez , Didier Lacombe , Stéphanie Arpin , Fabienne Giuliano , Damien Haye , Marlène Rio , Annick Toutain , Klaus Dieterich , Elise Brischoux-Boucher , Sophie Julia , Mathilde Nizon , Alexandra Afenjar , Boris Keren , Aurelia Jacquette , Sebastien Moutton , Marie-Line Jacquemont , Claire Duflos , Yline Capri , Jeanne Amiel , Patricia Blanchet , Stanislas Lyonnet , Damien Sanlaville , David Genevieve

Histone H3.3 beyond cancer: Germline mutations in

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

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 , Benjamin Cogné , 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

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine
Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Journal of inherited metabolic disease
Avec: Claire-Marine Bérat , Sebastian Montealegre , Arnaud Wiedemann , Malou Le Corronc Nuzum , Amélie Blondel , Hugo Debruge , Aline Cano , Brigitte Chabrol , Célia Hoebeke , Michel Polak , Athanasia Stoupa , François Feillet , Stéphanie Torre , Nathalie Boddaert , Henri Bruel , Magalie Barth , Lena Damaj , Marie-Thérèse Abi-Wardé , Alexandra Afenjar , Jean-François Benoist , Marine Madrange , Laure Caccavelli , Perrine Renard , Arnaud Hubas , Patrick Nusbaum , Clément Pontoizeau , Stéphanie Gobin , Peter van Endert , Chris Ottolenghi , Alice Maltret , Pascale de Lonlay

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Marije Meuwissen , Aline Verstraeten , Emmanuelle Ranza , Justyna Iwaszkiewicz , Maaike Bastiaansen , Ligia Mateiu , Merlijn Nemegeer , Josephina A N Meester , Alexandra Afenjar , Michelle Amaral , Diana Ballhausen , Sarah Barnett , Magalie Barth , Bob Asselbergh , Katrien Spaas , Bavo Heeman , Jennifer Bassetti , Patrick Blackburn , Marie Schaer , Xavier Blanc , Vincent Zoete , Kari Casas , Thomas Courtin , Diane Doummar , Frédéric Guerry , Boris Keren , John Pappas , Rachel Rabin , Amber Begtrup , Marwan Shinawi , Anneke T Vulto-van Silfhout , Tjitske Kleefstra , Matias Wagner , Alban Ziegler , Elise Schaefer , Benedicte Gerard , Charlotte I De Bie , Sjoerd J B Holwerda , Mary Alice Abbot , Stylianos E Antonarakis , Bart Loeys

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

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

Frontiers in cell and developmental biology
Avec: Antje Kampmeier , Elsa Leitão , Ilaria Parenti , Jasmin Beygo , Christel Depienne , Nuria C Bramswig , Tzung-Chien Hsieh , Alexandra Afenjar , Stefanie Beck-Wödl , Ute Grasshoff , Tobias B Haack , Emilia K Bijlsma , Claudia Ruivenkamp , Eva Lausberg , Miriam Elbracht , Maria K Haanpää , Hannele Koillinen , Uwe Heinrich , Imma Rost , Rami Abou Jamra , Denny Popp , Margarete Koch-Hogrebe , Kevin Rostasy , Vanesa López-González , María José Sanchez-Soler , Catarina Macedo , Ariane Schmetz , Carmen Steinborn , Sabine Weidensee , Hellen Lesmann , Felix Marbach , Pilar Caro , Christian P Schaaf , Peter Krawitz , Dagmar Wieczorek , Frank J Kaiser , Alma Kuechler

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

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

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 , Benjamin Cogné , 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 , Benjamin Cogné , 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

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

American journal of human genetics
Avec: Julia Wang , Justine Rousseau , Emily Kim , Sophie Ehresmann , Yi-Ting Cheng , Lita Duraine , Zhongyuan Zuo , Ye-Jin Park , David Li-Kroeger , Weimin Bi , Lee-Jun Wong , Jill Rosenfeld , Joseph Gleeson , Eissa Faqeih , Fowzan S Alkuraya , Klaas J Wierenga , Jiani Chen , Alexandra Afenjar , Caroline Nava , Diane Doummar , Boris Keren , Jane Juusola , Markus Grompe , Hugo J Bellen , Philippe M Campeau

Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.

Human mutation
Avec: Alice Fiévet , Dorine Bellanger , Stéphanie Valence , Lenha Mobuchon , Alexandra Afenjar , Fabienne Giuliano , Catherine Dubois d'Enghien , Béatrice Parfait , Jean-Michel Pedespan , Nathalie Auger , Guillaume Rieunier , Agnès Collet , Lydie Burglen , Dominique Stoppa-Lyonnet , Marc-Henri Stern

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

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

Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation.

Gene
Avec: Nathalie Carion , Audrey Briand , Laurence Cuisset , Laurence Pacot , Alexandra Afenjar , Thierry Bienvenu

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

American journal of medical genetics. Part A
Avec: Laura Mary , Elsa Nourisson , Claire Feger , Vincent Laugel , Denys Chaigne , Boris Keren , Alexandra Afenjar , Thierry Billette , Detlef Trost , Cécile Cieuta-Walti , Bénédicte Gerard , Amélie Piton , Elise Schaefer

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 , Bertrand Isidor , 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

Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.

Clinical genetics
Avec: Miriam Nøstvik , Sarah M Kateta , Bitten Schönewolf-Greulich , Alexandra Afenjar , Magalie Barth , Felix Boschann , Diane Doummar , Tobias B Haack , Boris Keren , Ludmila A Livshits , Davide Mei , Joohyun Park , Tiziana Pisano , Clement Prouteau , Muhammad Umair , Ahmed Waqas , Alban Ziegler , Renzo Guerrini , Rikke S Møller , Zeynep Tümer

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

Epilepsy & behavior : E&B
Avec: Claire Bar , Delphine Breuillard , Mathieu Kuchenbuch , Mélanie Jennesson , Gwenaël Le Guyader , Hervé Isnard , Anne Rolland , Diane Doummar , Joel Fluss , Alexandra Afenjar , Patrick Berquin , Anne De Saint Martin , Sophie Dupont , Alice Goldenberg , Damien Lederer , Gaétan Lesca , Hélène Maurey , Pierre Meyer , Cyril Mignot , Anca Nica , Sylvie Odent , Alice Poisson , Emmanuel Scalais , Tayeb Sekhara , Pascal Vrielynck , Giulia Barcia , Rima Nabbout

OXR1 maintains the retromer to delay brain aging under dietary restriction.

Nature communications
Avec: Kenneth A Wilson , Sudipta Bar , Eric B Dammer , Enrique M Carrera , Brian A Hodge , Tyler A U Hilsabeck , Joanna Bons , George W Brownridge , Jennifer N Beck , Jacob Rose , Melia Granath-Panelo , Christopher S Nelson , Grace Qi , Akos A Gerencser , Jianfeng Lan , Alexandra Afenjar , Geetanjali Chawla , Rachel B Brem , Philippe M Campeau , Hugo J Bellen , Birgit Schilling , Nicholas T Seyfried , Lisa M Ellerby , Pankaj Kapahi

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Molecular genetics & genomic medicine
Avec: Valentin Ruault , Pauline Burger , Johanna Gradels-Hauguel , Nathalie Ruiz , Auteur inconnu , Rami Abou Jamra , Alexandra Afenjar , Yves Alembik , Jean-Luc Alessandri , Stéphanie Arpin , Giulia Barcia , Šárka Bendová , Ange-Line Bruel , Perrine Charles , Nicolas Chatron , Maya Chopra , Solène Conrad , Valérie Cormier Daire , Auriane Cospain , Christine Coubes , Juliette Coursimault , Andrée Delahaye-Duriez , Martine Doco , William Dufour , Benjamin Durand , Camille Engel , Laurence Faivre , Fanny Ferroul , Mélanie Fradin , Hélène Frenkiel , Carlo Fusco , Livia Garavelli , Aurore Garde , Bénédicte Gerard , David Germanaud , Louise Goujon , Aurélie Gouronc , Emmanuelle Ginglinger , Alice Goldenberg , Miroslava Hancarova , Markéta Havlovicová , Delphine Heron , Bertrand Isidor , Nolwenn Jean Marçais , Boris Keren , Margarete Koch-Hogrebe , Paul Kuentz , Victoria Lamure , Anne-Sophie Lebre , François Lecoquierre , Natacha Lehman , Gaetan Lesca , Stanislas Lyonnet , Delphine Martin , Cyril Mignot , Teresa M Neuhann , Gaël Nicolas , Mathilde Nizon , Florence Petit , Christophe Philippe , Amélie Piton , Marzia Pollazzon , Darina Prchalová , Audrey Putoux , Marlène Rio , Sophie Rondeau , Massimiliano Rossi , Quentin Sabbagh , Pascale Saugier-Veber , Ariane Schmetz , Julie Steffann , Christel Thauvin-Robinet , Annick Toutain , Frederic Tran Mau Them , Gabriele Trimarchi , Marie Vincent , Markéta Vlčková , Dagmar Wieczorek , Marjolaine Willems , Kevin Yauy , Michaela Zelinová , Alban Ziegler , Auteur inconnu , Boris Chaumette , Bekim Sadikovic , Jean-Louis Mandel , David Geneviève

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

American journal of medical genetics. Part A
Avec: Clémence Jacquin , Emilie Landais , Céline Poirsier , Alexandra Afenjar , Ahmad Akhavi , Nathalie Bednarek , Caroline Bénech , Adeline Bonnard , Damien Bosquet , Lydie Burglen , Patrick Callier , Sandra Chantot-Bastaraud , Christine Coubes , Charles Coutton , Bruno Delobel , Margaux Descharmes , Jean-Michel Dupont , Vincent Gatinois , Nicolas Gruchy , Sarah Guterman , Abdelkader Heddar , Lucas Herissant , Delphine Heron , Bertrand Isidor , Pauline Jaeger , Guillaume Jouret , Boris Keren , Paul Kuentz , Cedric Le Caignec , Jonathan Levy , Nathalie Lopez , Zoe Manssens , Dominique Martin-Coignard , Isabelle Marey , Cyril Mignot , Chantal Missirian , Céline Pebrel-Richard , Lucile Pinson , Jacques Puechberty , Sylvia Redon , Damien Sanlaville , Marta Spodenkiewicz , Anne-Claude Tabet , Alain Verloes , Gaelle Vieville , Catherine Yardin , François Vialard , Martine Doco-Fenzy

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

European journal of human genetics : EJHG
Avec: Thomas Husson , François Lecoquierre , Gaël Nicolas , Anne-Claire Richard , Alexandra Afenjar , Séverine Audebert-Bellanger , Catherine Badens , Frédéric Bilan , Varoona Bizaoui , Anne Boland , Marie-Noëlle Bonnet-Dupeyron , Elise Brischoux-Boucher , Céline Bonnet , Marie Bournez , Odile Boute , Perrine Brunelle , Roseline Caumes , Perrine Charles , Nicolas Chassaing , Nicolas Chatron , Benjamin Cogné , Estelle Colin , Valérie Cormier-Daire , Rodolphe Dard , Benjamin Dauriat , Julian Delanne , Jean-François Deleuze , Florence Demurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Anne Dieux , Christèle Dubourg , Patrick Edery , Salima El Chehadeh , Laurence Faivre , Patricia Fergelot , Mélanie Fradin , Aurore Garde , David Geneviève , Brigitte Gilbert-Dussardier , Cyril Goizet , Alice Goldenberg , Evan Gouy , Anne-Marie Guerrot , Anne Guimier , Inès Harzalla , Delphine Héron , Bertrand Isidor , Didier Lacombe , Xavier Le Guillou Horn , Boris Keren , Alma Kuechler , Elodie Lacaze , Alinoë Lavillaureix , Daphné Lehalle , Gaëtan Lesca , James Lespinasse , Jonathan Levy , Stanislas Lyonnet , Godeliève Morel , Nolwenn Jean-Marçais , Sandrine Marlin , Luisa Marsili , Cyril Mignot , Sophie Nambot , Mathilde Nizon , Robert Olaso , Laurent Pasquier , Laurine Perrin , Florence Petit , Veronique Pingault , Amélie Piton , Fabienne Prieur , Audrey Putoux , Marc Planes , Sylvie Odent , Chloé Quélin , Sylvia Quemener-Redon , Mélanie Rama , Marlène Rio , Massimiliano Rossi , Elise Schaefer , Sophie Rondeau , Pascale Saugier-Veber , Thomas Smol , Sabine Sigaudy , Renaud Touraine , Frederic Tran Mau-Them , Aurélien Trimouille , Julien Van Gils , Clémence Vanlerberghe , Valérie Vantalon , Gabriella Vera , Marie Vincent , Alban Ziegler , Olivier Guillin , Dominique Campion , Camille Charbonnier

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Brain : a journal of neurology
Avec: Elizabeth A Werren , Guillermo Rodriguez Bey , Purvi Majethia , Parneet Kaur , Siddaramappa J Patil , Minal Kekatpure , Alexandra Afenjar , Leila Qebibo , Lydie Burglen , Hoda Tomoum , Florence Demurger , Christele Duborg , Shahyan Siddiqui , Yao-Chang Tsan , Uzma Abdullah , Zafar Ali , Saadia Maryam Saadi , Shahid Mahmood Baig , Henry Houlden , Reza Maroofian , Quasar Saleem Padiath , Stephanie L Bielas , Anju Shukla

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.

Journal of inherited metabolic disease
Avec: Walid Haouari , Johanne Dubail , Samra Lounis-Ouaras , Pierre Prada , Rizk Bennani , Charles Roseau , Céline Huber , Alexandra Afenjar , Estelle Colin , Sandrine Vuillaumier-Barrot , Nathalie Seta , François Foulquier , Christian Poüs , Valérie Cormier-Daire , Arnaud Bruneel

Journal of medical genetics
Avec: Hala Nasser , Liza Vera , Monique Elmaleh-Bergès , Katharina Steindl , Pascaline Letard , Natacha Teissier , Anais Ernault , Fabien Guimiot , Alexandra Afenjar , Marie Laure Moutard , Delphine Héron , Yves Alembik , Martha Momtchilova , Paolo Milani , Nathalie Kubis , Nathalie Pouvreau , Marcella Zollino , Sophie Guilmin Crepon , Florentia Kaguelidou , Pierre Gressens , Alain Verloes , Anita Rauch , Vincent El Ghouzzi , Severine Drunat , Sandrine Passemard

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics
Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Gaetan Lesca , Nicolas Chatron , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Jozef Gecz , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

A 14q distal chromoanagenesis elucidated by whole genome sequencing.

European journal of medical genetics
Avec: Flavie Ader , Solveig Heide , Pauline Marzin , Alexandra Afenjar , Flavie Diguet , Sandra Chantot Bastaraud , Pierre-Antoine Rollat-Farnier , Damien Sanlaville , Marie-France Portnoï , Jean-Pierre Siffroi , Caroline Schluth-Bolard

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

NPJ genomic medicine
Avec: Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Lévy , Julien Buratti , Alexandre Mathieu , Damien Haye , Laurence Perrin , Céline Dupont , Sandrine Passemard , Yline Capri , Alain Verloes , Séverine Drunat , Boris Keren , Cyril Mignot , Isabelle Marey , Aurélia Jacquette , Sandra Whalen , Eva Pipiras , Brigitte Benzacken , Sandra Chantot-Bastaraud , Alexandra Afenjar , Delphine Héron , Cédric Le Caignec , Claire Beneteau , Olivier Pichon , Bertrand Isidor , Albert David , Laila El Khattabi , Stephan Kemeny , Laetitia Gouas , Philippe Vago , Anne-Laure Mosca-Boidron , Laurence Faivre , Chantal Missirian , Nicole Philip , Damien Sanlaville , Patrick Edery , Véronique Satre , Charles Coutton , Françoise Devillard , Klaus Dieterich , Marie-Laure Vuillaume , Caroline Rooryck , Didier Lacombe , Lucile Pinson , Vincent Gatinois , Jacques Puechberty , Jean Chiesa , James Lespinasse , Christèle Dubourg , Chloé Quelin , Mélanie Fradin , Hubert Journel , Annick Toutain , Dominique Martin , Abdelamdjid Benmansour , Claire S Leblond , Roberto Toro , Frédérique Amsellem , Richard Delorme , Thomas Bourgeron

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nature communications
Avec: Lot Snijders Blok , Justine Rousseau , Joanna Twist , Sophie Ehresmann , Motoki Takaku , Hanka Venselaar , Lance H Rodan , Catherine B Nowak , Jessica Douglas , Kathryn J Swoboda , Marcie A Steeves , Inderneel Sahai , Connie T R M Stumpel , Alexander P A Stegmann , Patricia Wheeler , Marcia Willing , Elise Fiala , Aaina Kochhar , William T Gibson , Ana S A Cohen , Ruky Agbahovbe , A Micheil Innes , P Y Billie Au , Julia Rankin , Ilse J Anderson , Steven A Skinner , Raymond J Louie , Hannah E Warren , Alexandra Afenjar , Boris Keren , Caroline Nava , Julien Buratti , Arnaud Isapof , Diana Rodriguez , Raymond Lewandowski , Jennifer Propst , Ton van Essen , Murim Choi , Sangmoon Lee , Jong H Chae , Susan Price , Rhonda E Schnur , Ganka Douglas , Ingrid M Wentzensen , Christiane Zweier , André Reis , Martin G Bialer , Christine Moore , Marije Koopmans , Eva H Brilstra , Glen R Monroe , Koen L I van Gassen , Ellen van Binsbergen , Ruth Newbury-Ecob , Lucy Bownass , Ingrid Bader , Johannes A Mayr , Saskia B Wortmann , Kathy J Jakielski , Edythe A Strand , Katja Kloth , Tatjana Bierhals , Auteur inconnu , John D Roberts , Robert M Petrovich , Shinichi Machida , Hitoshi Kurumizaka , Stefan Lelieveld , Rolph Pfundt , Sandra Jansen , Pelagia Deriziotis , Laurence Faivre , Julien Thevenon , Mirna Assoum , Lawrence Shriberg , Tjitske Kleefstra , Han G Brunner , Paul A Wade , Simon E Fisher , Philippe M Campeau

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nature communications
Avec: Lot Snijders Blok , Justine Rousseau , Joanna Twist , Sophie Ehresmann , Motoki Takaku , Hanka Venselaar , Lance H Rodan , Catherine B Nowak , Jessica Douglas , Kathryn J Swoboda , Marcie A Steeves , Inderneel Sahai , Connie T R M Stumpel , Alexander P A Stegmann , Patricia Wheeler , Marcia Willing , Elise Fiala , Aaina Kochhar , William T Gibson , Ana S A Cohen , Ruky Agbahovbe , A Micheil Innes , P Y Billie Au , Julia Rankin , Ilse J Anderson , Steven A Skinner , Raymond J Louie , Hannah E Warren , Alexandra Afenjar , Boris Keren , Caroline Nava , Julien Buratti , Arnaud Isapof , Diana Rodriguez , Raymond Lewandowski , Jennifer Propst , Ton van Essen , Murim Choi , Sangmoon Lee , Jong H Chae , Susan Price , Rhonda E Schnur , Ganka Douglas , Ingrid M Wentzensen , Christiane Zweier , André Reis , Martin G Bialer , Christine Moore , Marije Koopmans , Eva H Brilstra , Glen R Monroe , Koen L I van Gassen , Ellen van Binsbergen , Ruth Newbury-Ecob , Lucy Bownass , Ingrid Bader , Johannes A Mayr , Saskia B Wortmann , Kathy J Jakielski , Edythe A Strand , Katja Kloth , Tatjana Bierhals , Auteur inconnu , John D Roberts , Robert M Petrovich , Shinichi Machida , Hitoshi Kurumizaka , Stefan Lelieveld , Rolph Pfundt , Sandra Jansen , Pelagia Deriziotis , Laurence Faivre , Julien Thevenon , Mirna Assoum , Lawrence Shriberg , Tjitske Kleefstra , Han G Brunner , Paul A Wade , Simon E Fisher , Philippe M Campeau

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

American journal of human genetics
Avec: Illja J Diets , Roos van der Donk , Kristina Baltrunaite , Esmé Waanders , Margot R F Reijnders , Alexander J M Dingemans , Rolph Pfundt , Anneke T Vulto-van Silfhout , Laurens Wiel , Christian Gilissen , Julien Thevenon , Laurence Perrin , Alexandra Afenjar , Caroline Nava , Boris Keren , Sarah Bartz , Bethany Peri , Gea Beunders , Nienke Verbeek , Koen van Gassen , Isabelle Thiffault , Maxime Cadieux-Dion , Lina Huerta-Saenz , Matias Wagner , Vassiliki Konstantopoulou , Julia Vodopiutz , Matthias Griese , Annekatrien Boel , Bert Callewaert , Han G Brunner , Tjitske Kleefstra , Nicoline Hoogerbrugge , Bert B A de Vries , Vivian Hwa , Andrew Dauber , Jayne Y Hehir-Kwa , Roland P Kuiper , Marjolijn C J Jongmans

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal of medical genetics
Avec: Caroline Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel , Alexandra Afenjar , Florence Amblard , Jeanne Amiel , Sophie Blesson , Patrick Callier , Yline Capri , Patrick Collignon , Marie-Pierre Cordier , Christine Coubes , Benedicte Demeer , Annabelle Chaussenot , Florence Demurger , Françoise Devillard , Martine Doco-Fenzy , Céline Dupont , Jean-Michel Dupont , Sophie Dupuis-Girod , Laurence Faivre , Brigitte Gilbert-Dussardier , Anne-Marie Guerrot , Marine Houlier , Bertrand Isidor , Sylvie Jaillard , Géraldine Joly-Hélas , Valérie Kremer , Didier Lacombe , Cédric Le Caignec , Aziza Lebbar , Marine Lebrun , Gaetan Lesca , James Lespinasse , Jonathan Levy , Valérie Malan , Michele Mathieu-Dramard , Julie Masson , Alice Masurel-Paulet , Cyril Mignot , Chantal Missirian , Fanny Morice-Picard , Sébastien Moutton , Gwenaël Nadeau , Céline Pebrel-Richard , Sylvie Odent , Véronique Paquis-Flucklinger , Laurent Pasquier , Nicole Philip , Morgane Plutino , Linda Pons , Marie-France Portnoï , Fabienne Prieur , Jacques Puechberty , Audrey Putoux , Marlène Rio , Caroline Rooryck-Thambo , Massimiliano Rossi , Catherine Sarret , Véronique Satre , Jean-Pierre Siffroi , Marianne Till , Renaud Touraine , Annick Toutain , Jérome Toutain , Stéphanie Valence , Alain Verloes , Sandra Whalen , Patrick Edery , Anne-Claude Tabet , Damien Sanlaville

Congenital immobility and stiffness related to biallelic

Neurology. Genetics
Avec: Roxane Bunod , Diane Doummar , Sandra Whalen , Boris Keren , Sandra Chantot-Bastaraud , Kim Maincent , Marie-Charlotte Villy , Michèle Mayer , Diana Rodriguez , Lydie Burglen , Pierre-Louis Léger , François Kieffer , Isabelle Martin , Delphine Héron , Julien Buratti , Arnaud Isapof , Alexandra Afenjar , Thierry Billette de Villemeur , Cyril Mignot

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Reem Al-Jawahiri , Aidin Foroutan , Jennifer Kerkhof , Haley McConkey , Michael Levy , Sadegheh Haghshenas , Kathleen Rooney , Jasmin Turner , Debbie Shears , Muriel Holder , Henrietta Lefroy , Bruce Castle , Linda M Reis , Elena V Semina , Auteur inconnu , Katherine Lachlan , Kate Chandler , Thomas Wright , Jill Clayton-Smith , Franziska Phan Hug , Nelly Pitteloud , Lucia Bartoloni , Sabine Hoffjan , Soo-Mi Park , Ajay Thankamony , Melissa Lees , Emma Wakeling , Swati Naik , Britta Hanker , Katta M Girisha , Emanuele Agolini , Zampino Giuseppe , Ziegler Alban , Marine Tessarech , Boris Keren , Alexandra Afenjar , Christiane Zweier , Andre Reis , Thomas Smol , Yoshinori Tsurusaki , Okamoto Nobuhiko , Futoshi Sekiguchi , Naomi Tsuchida , Naomichi Matsumoto , Ikuyo Kou , Yoshiro Yonezawa , Shiro Ikegawa , Bert Callewaert , Megan Freeth , Auteur inconnu , Lotte Kleinendorst , Alan Donaldson , Marielle Alders , Anne De Paepe , Bekim Sadikovic , Alisdair McNeill

New insights into

Journal of medical genetics
Avec: Madeleine Harion , Leila Qebibo , Audrey Riquet , Christelle Rougeot , Alexandra Afenjar , Catherine Garel , Malek Louha , Emmanuelle Lacaze , Frédérique Audic-Gérard , Magali Barth , Patrick Berquin , Dominique Bonneau , Frédéric Bourdain , Tiffany Busa , Estelle Colin , Jean-Marie Cuisset , Vincent Des Portes , Nathalie Dorison , Christine Francannet , Bénédicte Héron , Cécile Laroche , Marine Lebrun , Julia Métreau , Sylvie Odent , Laurent Pasquier , Yaumara Perdomo Trujillo , Laurine Perrin , Lucile Pinson , François Rivier , Sabine Sigaudy , Christel Thauvin-Robinet , Ulrike Walther Louvier , Olivier Labayle , Diana Rodriguez , Stéphanie Valence , Lydie Burglen

The different clinical facets of

Frontiers in cell and developmental biology
Avec: Ilaria Parenti , Elsa Leitão , Alma Kuechler , Laurent Villard , Cyril Goizet , Cécile Courdier , Allan Bayat , Alessandra Rossi , Sophie Julia , Ange-Line Bruel , Frédéric Tran Mau-Them , Sophie Nambot , Daphné Lehalle , Marjolaine Willems , James Lespinasse , Jamal Ghoumid , Roseline Caumes , Thomas Smol , Salima El Chehadeh , Elise Schaefer , Marie-Thérèse Abi-Warde , Boris Keren , Alexandra Afenjar , Anne-Claude Tabet , Jonathan Levy , Anna Maruani , Ángel Aledo-Serrano , Waltraud Garming , Clara Milleret-Pignot , Anna Chassevent , Marije Koopmans , Nienke E Verbeek , Richard Person , Rebecca Belles , Gary Bellus , Bonnie A Salbert , Frank J Kaiser , Laure Mazzola , Philippe Convers , Laurine Perrin , Amélie Piton , Gert Wiegand , Andrea Accogli , Francesco Brancati , Fabio Benfenati , Nicolas Chatron , David Lewis-Smith , Rhys H Thomas , Federico Zara , Pasquale Striano , Gaetan Lesca , Christel Depienne

Gain-of-function variants in the ion channel gene

eLife
Avec: Lydie Burglen , Evelien Van Hoeymissen , Leila Qebibo , Magalie Barth , Newell Belnap , Felix Boschann , Christel Depienne , Katrien De Clercq , Andrew G L Douglas , Mark P Fitzgerald , Nicola Foulds , Catherine Garel , Ingo Helbig , Katharina Held , Denise Horn , Annelies Janssen , Angela M Kaindl , Vinodh Narayanan , Christina Prager , Mailys Rupin-Mas , Alexandra Afenjar , Siyuan Zhao , Vincent Th Ramaekers , Sarah M Ruggiero , Simon Thomas , Stéphanie Valence , Lionel Van Maldergem , Tibor Rohacs , Diana Rodriguez , David Dyment , Thomas Voets , Joris Vriens

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

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

Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.

Clinical genetics
Avec: Anna Gerasimenko , Cyril Mignot , Olivier Naggara , Florence Coulet , Samar Ekram , Solveig Heide , Clarisse Sorato , Maxime Mazowiecki , Laurence Perrin , Chrystelle Colas , Veronica Cusin , Frédéric Caux , Antoine Dardenne , Salima El Chehadeh , Alain Verloes , Hélène Maurey , Alexandra Afenjar , Florence Petit , Stéphane Barete , Odile Boespflug-Tanguy , Emmanuelle Bourrat , Yline Capri , Viorica Ciorna , Wallid Deb , Diane Doummar , Alexandre Perrier , Alexis Guédon , Emmanuel Houdart , Bertrand Isidor , Marie-Line Jacquemont , Camille Buffet , Sandra Mercier , Sandrine Passemard , Audrey Riquet , Lyse Ruaud , Elise Schaefer , Delphine Heron , Annouk Bisdorff , Patrick R Benusiglio

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

American journal of human genetics
Avec: Laura V Vandervore , Rachel Schot , Chiara Milanese , Daphne J Smits , Esmee Kasteleijn , Andrew E Fry , Daniela T Pilz , Stefanie Brock , Esra Börklü-Yücel , Marco Post , Nadia Bahi-Buisson , María José Sánchez-Soler , Marjon van Slegtenhorst , Boris Keren , Alexandra Afenjar , Stephanie A Coury , Wen-Hann Tan , Renske Oegema , Linda S de Vries , Katherine A Fawcett , Peter G J Nikkels , Aida Bertoli-Avella , Amal Al Hashem , Abdulmalik A Alwabel , Kalthoum Tlili-Graiess , Stephanie Efthymiou , Faisal Zafar , Nuzhat Rana , Farah Bibi , Henry Houlden , Reza Maroofian , Richard E Person , Amy Crunk , Juliann M Savatt , Lisbeth Turner , Mohammad Doosti , Ehsan Ghayoor Karimiani , Nebal Waill Saadi , Javad Akhondian , Maarten H Lequin , Hülya Kayserili , Peter J van der Spek , Anna C Jansen , Johan M Kros , Robert M Verdijk , Nataša Jovanov Milošević , Maarten Fornerod , Pier Giorgio Mastroberardino , Grazia M S Mancini

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Epilepsia
Avec: Julien Denis , Nathalie Villeneuve , Pierre Cacciagli , Cecile Mignon-Ravix , Caroline Lacoste , Jeremie Lefranc , Sylvia Napuri , Lena Damaj , Frederic Villega , Jean-Michel Pedespan , Sebastien Moutton , Cyril Mignot , Diane Doummar , Laurence Lion-François , Svetlana Gataullina , Olivier Dulac , Melanie Martin , Sophie Gueden , Gaetan Lesca , Sophie Julia , Claude Cances , Hubert Journel , Cecilia Altuzarra , Bruria Ben Zeev , Alexandra Afenjar , Magalie Barth , Laurent Villard , Mathieu Milh

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

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

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Human mutation
Avec: Claire Bar , Giulia Barcia , Mélanie Jennesson , Gwenaël Le Guyader , Amy Schneider , Cyril Mignot , Gaetan Lesca , Delphine Breuillard , Martino Montomoli , Boris Keren , Diane Doummar , Thierry Billette de Villemeur , Alexandra Afenjar , Isabelle Marey , Marion Gerard , Hervé Isnard , Alice Poisson , Sophie Dupont , Patrick Berquin , Pierre Meyer , David Genevieve , Anne De Saint Martin , Salima El Chehadeh , Jamel Chelly , Agnès Guët , Emmanuel Scalais , Nathalie Dorison , Candace T Myers , Heather C Mefford , Katherine B Howell , Carla Marini , Jeremy L Freeman , Anca Nica , Gaetano Terrone , Tayeb Sekhara , Anne-Sophie Lebre , Sylvie Odent , Lynette G Sadleir , Arnold Munnich , Renzo Guerrini , Ingrid E Scheffer , Edor Kabashi , Rima Nabbout

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Journal of medical genetics
Avec: Laïla Allach El Khattabi , Solveig Heide , Jean-Hubert Caberg , Joris Andrieux , Martine Doco Fenzy , Caroline Vincent-Delorme , Patrick Callier , Sandra Chantot-Bastaraud , Alexandra Afenjar , Odile Boute-Benejean , Marie Pierre Cordier , Laurence Faivre , Christine Francannet , Marion Gerard , Alice Goldenberg , Alice Masurel-Paulet , Anne-Laure Mosca-Boidron , Nathalie Marle , Anne Moncla , Nathalie Le Meur , Michèle Mathieu-Dramard , Ghislaine Plessis , Gaetan Lesca , Massimiliano Rossi , Patrick Edery , Andrée Delahaye-Duriez , Loïc De Pontual , Anne Claude Tabet , Aziza Lebbar , Lesley Suiro , Christine Ioos , Abdelhafid Natiq , Siham Chafai Elalaoui , Chantal Missirian , Aline Receveur , Caroline François-Fiquet , Pascal Garnier , Catherine Yardin , Cécile Laroche , Philippe Vago , Damien Sanlaville , Jean Michel Dupont , Brigitte Benzacken , Eva Pipiras

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Stéphanie Valence , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud , Elodie Lainey , Alexandra Afenjar , Marie-Anne Barthez , Nathalie Bednarek , Diane Doummar , Laurence Faivre , Cyril Goizet , Damien Haye , Bénédicte Heron , Isabelle Kemlin , Didier Lacombe , Mathieu Milh , Marie-Laure Moutard , Florence Riant , Stéphanie Robin , Agathe Roubertie , Pierre Sarda , Annick Toutain , Laurent Villard , Dorothée Ville , Thierry Billette de Villemeur , Diana Rodriguez , Lydie Burglen

Biallelic variants in

Journal of medical genetics
Avec: Maria Lisa Dentici , Viola Alesi , Mathieu Quinodoz , Barbara Robens , Andrea Guerin , Sébastien Lebon , Annapurna Poduri , Lorena Travaglini , Federica Graziola , Alexandra Afenjar , Boris Keren , Valerio Licursi , Alessandro Capuano , Bruno Dallapiccola , Andrea Superti-Furga , Antonio Novelli

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 , Bertrand Isidor , 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 , Bertrand Isidor , Mathilde Nizon , Diane Doummar , Stéphanie Valence , Delphine Héron , Boris Keren , Cyril Mignot , Charles Coutton , Françoise Devillard , Anne-Sophie Alaix , Jeanne Amiel , Laurence Colleaux , Arnold Munnich , Karine Poirier , Marlène Rio , Sophie Rondeau , Giulia Barcia , Bert Callewaert , Annelies Dheedene , Candy Kumps , Sarah Vergult , Björn Menten , Wendy K Chung , Rebecca Hernan , Austin Larson , Kelly Nori , Sarah Stewart , James Wheless , Christina Kresge , Beth A Pletcher , Roseline Caumes , Thomas Smol , Sabine Sigaudy , Christine Coubes , Margaret Helm , Rosemarie Smith , Jennifer Morrison , Patricia G Wheeler , Amy Kritzer , Guillaume Jouret , Alexandra Afenjar , Jean-François Deleuze , Robert Olaso , Anne Boland , Christine Poitou , Thierry Frebourg , Claude Houdayer , Pascale Saugier-Veber , Gaël Nicolas , François Lecoquierre

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

Orphanet journal of rare diseases
Avec: M Mouillé , M Rio , S Breton , M L Piketty , A Afenjar , J Amiel , Y Capri , A Goldenberg , C Francannet , C Michot , C Mignot , L Perrin , C Quelin , J Van Gils , G Barcia , V Pingault , G Maruani , E Koumakis , V Cormier-Daire

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

American journal of human genetics
Avec: Marion Coolen , Nami Altin , Karthyayani Rajamani , Eva Pereira , Karine Siquier-Pernet , Emilia Puig Lombardi , Nadjeda Moreno , Giulia Barcia , Marianne Yvert , Annie Laquerrière , Aurore Pouliet , Patrick Nitschké , Nathalie Boddaert , Antonio Rausell , Féréchté Razavi , Alexandra Afenjar , Thierry Billette de Villemeur , Almundher Al-Maawali , Khalid Al-Thihli , Julia Baptista , Ana Beleza-Meireles , Catherine Garel , Marine Legendre , Antoinette Gelot , Lydie Burglen , Sébastien Moutton , Vincent Cantagrel

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

American journal of human genetics
Avec: Federico Tessadori , Karen Duran , Karen Knapp , Matthias Fellner , Auteur inconnu , Sarah Smithson , Ana Beleza Meireles , Mariet W Elting , Quinten Waisfisz , Anne O'Donnell-Luria , Catherine Nowak , Jessica Douglas , Anne Ronan , Theresa Brunet , Urania Kotzaeridou , Shayna Svihovec , Margarita S Saenz , Isabelle Thiffault , Florencia Del Viso , Patrick Devine , Shannon Rego , Jessica Tenney , Arie van Haeringen , Claudia A L Ruivenkamp , Saskia Koene , Stephen P Robertson , Charulata Deshpande , Rolph Pfundt , Nienke Verbeek , Jiddeke M van de Kamp , Janneke M M Weiss , Anna Ruiz , Elisabeth Gabau , Ehud Banne , Alexander Pepler , Armand Bottani , Sacha Laurent , Michel Guipponi , Emilia Bijlsma , Ange-Line Bruel , Arthur Sorlin , Mary Willis , Zoe Powis , Thomas Smol , Catherine Vincent-Delorme , Diana Baralle , Estelle Colin , Nicole Revencu , Eduardo Calpena , Andrew O M Wilkie , Maya Chopra , Valerie Cormier-Daire , Boris Keren , Alexandra Afenjar , Marcello Niceta , Alessandra Terracciano , Nicola Specchio , Marco Tartaglia , Marlene Rio , Giulia Barcia , Sophie Rondeau , Cindy Colson , Jeroen Bakkers , Peter D Mace , Louise S Bicknell , Gijs van Haaften

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Clinical genetics
Avec: Florence Riant , Lydie Burglen , Michaelle Corpechot , Julien Robert , Alexandra Durr , Guilhem Solé , Florence Petit , Cécile Freihuber , Olivier De Marco , Catherine Sarret , Giovanni Castelnovo , Françoise Devillard , Alexandra Afenjar , Bénédicte Héron , Elisabeth Tournier Lasserve

Growth charts in DYRK1A syndrome.

American journal of medical genetics. Part A
Avec: Pierre-Louis Lanvin , Thomas Goronflot , Bertrand Isidor , 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

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in

Genes
Avec: Patricia Pascual , Jair Tenorio-Castano , Cyril Mignot , Alexandra Afenjar , Pedro Arias , Natalia Gallego-Zazo , Alejandro Parra , Lucia Miranda , Mario Cazalla , Cristina Silván , Delphine Heron , Boris Keren , Ioana Popa , María Palomares , Emi Rikeros , Feliciano J Ramos , Berta Almoguera , Carmen Ayuso , Saoud Tahsin Swafiri , Ana Isabel Sánchez Barbero , Varunvenkat M Srinivasan , Vykuntaraju K Gowda , Manuela Morleo , Vicenzo Nigro , Stefano D'Arrigo , Claudia Ciaccio , Carmen Martin Mesa , Beatriz Paumard , Gema Guillen , Ana Teresa Serrano Anton , Marta Domínguez Jimenez , Veronica Seidel , Julia Suárez , Valerie Cormier-Daire , The Sogri Consortium , Julián Nevado , Pablo Lapunzina

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Brain : a journal of neurology
Avec: Hashem Almousa , Sara A Lewis , Somayeh Bakhtiari , Sandra Hinz Nordlie , Alex Pagnozzi , Helen Magee , Stephanie Efthymiou , Jennifer A Heim , Patricia Cornejo , Maha S Zaki , Najwa Anwar , Shazia Maqbool , Fatima Rahman , Derek E Neilson , Anusha Vemuri , Sheng Chih Jin , Xiao-Ru Yang , Abolfazl Heidari , Koen van Gassen , Aurélien Trimouille , Christel Thauvin-Robinet , James Liu , Ange-Line Bruel , Hoda Tomoum , Mennatallah O Shata , Mais O Hashem , Mehran Beiraghi Toosi , Ehsan Ghayoor Karimiani , Gözde Yeşil , Lokesh Lingappa , Debangana Baruah , Farnoosh Ebrahimzadeh , Julien Van-Gils , Laurence Faivre , Mina Zamani , Hamid Galehdari , Saeid Sadeghian , Gholamreza Shariati , Rahema Mohammad , Jasper van der Smagt , Alya Qari , John B Vincent , A Micheil Innes , Ali Dursun , R Köksal Özgül , Halil Tuna Akar , Kaya Bilguvar , Cyril Mignot , Boris Keren , Claudia Raveli , Lydie Burglen , Alexandra Afenjar , Laura Donker Kaat , Marjon van Slegtenhorst , Fowzan Alkuraya , Henry Houlden , Sergio Padilla-Lopez , Reza Maroofian , Michael Sacher , Michael C Kruer

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

American journal of human genetics
Avec: Annelise Y Mah-Som , Jil Daw , Diana Huynh , Mengcheng Wu , Benjamin C Creekmore , William Burns , Steven A Skinner , Øystein L Holla , Marie F Smeland , Marc Planes , Kevin Uguen , Sylvia Redon , Tatjana Bierhals , Tasja Scholz , Jonas Denecke , Martin A Mensah , Henrike L Sczakiel , Heidelis Tichy , Sarah Verheyen , Jasmin Blatterer , Elisabeth Schreiner , Jenny Thies , Christina Lam , Christine G Spaeth , Loren Pena , Keri Ramsey , Vinodh Narayanan , Laurie H Seaver , Diana Rodriguez , Alexandra Afenjar , Lydie Burglen , Edward B Lee , Tsui-Fen Chou , Conrad C Weihl , Marwan S Shinawi

Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.

Prenatal diagnosis
Avec: Alienor Jaillard , Stéphanie Valence , Saskia Vande Perre , Ferdinand Dhombres , Delphine Héron , Thierry Billette de Villemeur , Boris Keren , Alexandra Afenjar , Leila Qebibo , Madeleine Harion , Geneviève Quenum-Miraillet , Diana Rodriguez , Jean-Marie Jouannic , Lydie Burglen , Catherine Garel

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

European journal of human genetics : EJHG
Avec: Eléonore Viora-Dupont , Françoise Robert , Aline Chassagne , Aurore Pélissier , Stéphanie Staraci , Damien Sanlaville , Patrick Edery , Gaetan Lesca , Audrey Putoux , Linda Pons , Amandine Cadenes , Amandine Baurand , Caroline Sawka , Geoffrey Bertolone , Myrtille Spetchian , Meriem Yousfi , Dominique Salvi , Elodie Gautier , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Frédéric Tran Mau-Them , Anne Faudet , Boris Keren , Audrey Labalme , Nicolas Chatron , Carine Abel , Sophie Dupuis-Girod , Alice Poisson , Julien Buratti , Cyril Mignot , Alexandra Afenjar , Sandra Whalen , Perrine Charles , Solveig Heide , Linda Mouthon , Sébastien Moutton , Arthur Sorlin , Sophie Nambot , Anne-Sophie Briffaut , Marie-Laure Asensio , Christophe Philippe , Christel Thauvin-Robinet , Delphine Héron , Massimiliano Rossi , Nicolas Meunier-Bellard , Marcela Gargiulo , Christine Peyron , Christine Binquet , Laurence Faivre

Réseau de co-auteurs

Boris Keren 45 collaborations
Cyril Mignot 24 collaborations
None None 20 collaborations
Laurence Faivre 19 collaborations
Lydie Burglen 15 collaborations
Bertrand Isidor 14 collaborations
Diane Doummar 13 collaborations
Caroline Nava 11 collaborations
Mathilde Nizon 11 collaborations
Gaetan Lesca 11 collaborations
Delphine Héron 10 collaborations
Diana Rodriguez 10 collaborations
Tjitske Kleefstra 9 collaborations
Thierry Billette de Villemeur 9 collaborations
Sylvie Odent 9 collaborations
Christel Thauvin-Robinet 8 collaborations
Sandra Whalen 8 collaborations
Christine Coubes 8 collaborations
Damien Sanlaville 8 collaborations
Amélie Piton 8 collaborations
Perrine Charles 7 collaborations
Marie Vincent 7 collaborations
Antonio Vitobello 7 collaborations
Thomas Smol 7 collaborations
Solveig Heide 7 collaborations
Rolph Pfundt 7 collaborations
Benjamin Cogne 7 collaborations
Marlène Rio 7 collaborations
Delphine Heron 7 collaborations
Sébastien Moutton 7 collaborations
Elise Schaefer 7 collaborations
Ange-Line Bruel 7 collaborations
Nicolas Chatron 7 collaborations
Alice Goldenberg 7 collaborations
Stéphanie Valence 7 collaborations
Julien Buratti 7 collaborations
Giulia Barcia 7 collaborations
Salima El Chehadeh 7 collaborations
Philippe M Campeau 6 collaborations
Benjamin Cogné 6 collaborations
A Micheil Innes 6 collaborations
Alban Ziegler 6 collaborations
Marjolaine Willems 6 collaborations
James Lespinasse 6 collaborations
Anne-Sophie Denommé-Pichon 6 collaborations
Isabelle Marey 6 collaborations
Bert Callewaert 6 collaborations
Didier Lacombe 6 collaborations
Annick Toutain 6 collaborations
Christiane Zweier 6 collaborations
Audrey Putoux 6 collaborations
Patrick Edery 6 collaborations
Sophie Rondeau 6 collaborations
Han G Brunner 5 collaborations
Alexander P A Stegmann 5 collaborations
Hugo J Bellen 5 collaborations
Eric W Klee 5 collaborations
Julien Thevenon 5 collaborations
Florence Demurger 5 collaborations
Dong Li 5 collaborations
Pascale Saugier-Veber 5 collaborations
Yline Capri 5 collaborations
Allan Bayat 5 collaborations
Christel Depienne 5 collaborations
Renzo Guerrini 5 collaborations
Anne-Marie Guerrot 5 collaborations
Sandra Mercier 5 collaborations
David Geneviève 5 collaborations
Christophe Philippe 5 collaborations
Florence Petit 5 collaborations
Magalie Barth 5 collaborations
Françoise Devillard 5 collaborations
Christèle Dubourg 5 collaborations
François Lecoquierre 5 collaborations
Gaël Nicolas 5 collaborations
Steven A Skinner 5 collaborations
Massimiliano Rossi 5 collaborations
Sandra Chantot-Bastaraud 5 collaborations
Alain Verloes 5 collaborations
Estelle Colin 5 collaborations
Laurent Pasquier 5 collaborations
Catherine Garel 5 collaborations
Corrado Romano 4 collaborations
Jane Juusola 4 collaborations
Jozef Gecz 4 collaborations
Stéphane Bézieau 4 collaborations
Lisenka E L M Vissers 4 collaborations
Arthur Sorlin 4 collaborations
Frederic Tran Mau-Them 4 collaborations
Thomas Courtin 4 collaborations
Bénédicte Héron 4 collaborations
Isabelle Thiffault 4 collaborations
Marjon van Slegtenhorst 4 collaborations
Ingo Helbig 4 collaborations
Rikke S Møller 4 collaborations
Ilse J Anderson 4 collaborations
Ellen van Binsbergen 4 collaborations
Rhonda E Schnur 4 collaborations
Sophie Julia 4 collaborations
Jeanne Amiel 4 collaborations
David Genevieve 4 collaborations
Marco Tartaglia 4 collaborations
Raymond J Louie 4 collaborations
Aurore Garde 4 collaborations
Laurence Perrin 4 collaborations
Jessica Douglas 4 collaborations
Alma Kuechler 4 collaborations
Anne De Saint Martin 4 collaborations
André Reis 4 collaborations
Justine Rousseau 4 collaborations
Gwenaël Le Guyader 4 collaborations
Alice Poisson 4 collaborations
Patrick Berquin 4 collaborations
Mélanie Fradin 4 collaborations
Jonathan Levy 4 collaborations
Chantal Missirian 4 collaborations
Anne-Claude Tabet 4 collaborations
Leila Qebibo 4 collaborations
Arnaud Isapof 4 collaborations
Frédéric Tran Mau-Them 4 collaborations
Saadet Mercimek-Andrews 3 collaborations
Rami Abou Jamra 3 collaborations
Heather C Mefford 3 collaborations
Ingrid E Scheffer 3 collaborations
Michael F Wangler 3 collaborations
Shinya Yamamoto 3 collaborations
Paul Kuentz 3 collaborations
Naomichi Matsumoto 3 collaborations
Lot Snijders Blok 3 collaborations
Claudia Ruivenkamp 3 collaborations
Austin Larson 3 collaborations
Hanka Venselaar 3 collaborations
Sebastien Moutton 3 collaborations
Ingrid M Wentzensen 3 collaborations
Erin Torti 3 collaborations
Nicola Foulds 3 collaborations
Elise Brischoux-Boucher 3 collaborations
Bert B A de Vries 3 collaborations
Siddharth Banka 3 collaborations
Kristian Tveten 3 collaborations
Marwan Shinawi 3 collaborations
Gregory Costain 3 collaborations
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