David Genevieve

Affiliations
  • Service de génétique clinique et du Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de référence maladies rares anomalies du développement, CHU Montpellier, Montpellier, France.

Publications (25)

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 , 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

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

American journal of human genetics
Avec: Andrea Accogli , Sara Calabretta , Judith St-Onge , Nassima Boudrahem-Addour , Alexandre Dionne-Laporte , Pascal Joset , Silvia Azzarello-Burri , Anita Rauch , Joel Krier , Elizabeth Fieg , Juan C Pallais , Auteur inconnu , Allyn McConkie-Rosell , Marie McDonald , Sharon F Freedman , Jean-Baptiste Rivière , Joël Lafond-Lapalme , Brittany N Simpson , Robert J Hopkin , Aurélien Trimouille , Julien Van-Gils , Amber Begtrup , Kirsty McWalter , Heron Delphine , Boris Keren , Emanuela Argilli , Elliott H Sherr , Mariasavina Severino , Guy A Rouleau , Patricia T Yam , Frédéric Charron , Myriam Srour

DNA methylation episignature in Gabriele-de Vries syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Florian Cherik , Jack Reilly , Jennifer Kerkhof , Michael Levy , Haley McConkey , Mouna Barat-Houari , Kameryn M Butler , Christine Coubes , Jennifer A Lee , Gwenael Le Guyader , Raymond J Louie , Wesley G Patterson , Matthew L Tedder , Mads Bak , Trine Bjørg Hammer , William Craigen , Florence Démurger , Christèle Dubourg , Mélanie Fradin , Rachel Franciskovich , Eirik Frengen , Jennifer Friedman , Nathalie Ruiz Palares , Maria Iascone , Doriana Misceo , Pauline Monin , Sylvie Odent , Christophe Philippe , Flavien Rouxel , Veronica Saletti , Petter Strømme , Perla Cassayre Thulin , Bekim Sadikovic ,

Abnormal Immune Profile in Individuals with Kabuki Syndrome.

Journal of clinical immunology
Avec: Margot Comel , Norma Saad , Debapratim Sil , Florence Apparailly , Marjolaine Willems , Farida Djouad , Jean-Christophe Andrau , Claire Lozano ,

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kevin Yauy , François Lecoquierre , Stéphanie Baert-Desurmont , Detlef Trost , Aicha Boughalem , Armelle Luscan , Jean-Marc Costa , Vanna Geromel , Laure Raymond , Pascale Richard , Sophie Coutant , Mélanie Broutin , Raphael Lanos , Quentin Fort , Stenzel Cackowski , Quentin Testard , Abdoulaye Diallo , Nicolas Soirat , Jean-Marc Holder , Nicolas Duforet-Frebourg , Anne-Laure Bouge , Sacha Beaumeunier , Denis Bertrand , Jerome Audoux , Laurent Mesnard , Gael Nicolas , Julien Thevenon , Nicolas Philippe

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Human mutation
Avec: Michael A Levy , Raissa Relator , Haley McConkey , Erinija Pranckeviciene , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Marco Ferilli , Robin S Fletcher , Florian Cherick , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie R Pallares , Maria Piccione , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella M Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce B Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , Dominique Campion , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , Delphine Heron , Thomas Husson , Kristin D Kernohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Marie Vincent , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

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 , 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 , Alice Goldenberg , Anne-Marie Guerrot , Bertrand Isidor , 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

Micro-CT and high-field MRI for studying very early post-mortem human fetal anatomy at 8 weeks of gestation.

Prenatal diagnosis
Avec: Audrey Lamouroux , Maïda Cardoso , Célia Bottero , Mathieu Gallo , Martha Duraes , Jennifer Salerno , Martin Bertrand , Valérie Rigau , Florent Fuchs , Eve Mousty , Gérard Subsol , Christophe Goze-Bac , Guillaume Captier

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

American journal of human genetics
Avec: Dmitrijs Rots , Arianne Bouman , Ayumi Yamada , Michael Levy , Alexander J M Dingemans , Bert B A de Vries , Martina Ruiterkamp-Versteeg , Nicole de Leeuw , Charlotte W Ockeloen , Rolph Pfundt , Elke de Boer , Joost Kummeling , Bregje van Bon , Hans van Bokhoven , Nael Nadif Kasri , Hanka Venselaar , Marielle Alders , Jennifer Kerkhof , Haley McConkey , Alma Kuechler , Bart Elffers , Rixje van Beeck Calkoen , Susanna Hofman , Audrey Smith , Maria Irene Valenzuela , Siddharth Srivastava , Zoe Frazier , Isabelle Maystadt , Carmelo Piscopo , Giuseppe Merla , Meena Balasubramanian , Gijs W E Santen , Kay Metcalfe , Soo-Mi Park , Laurent Pasquier , Siddharth Banka , Dian Donnai , Daniel Weisberg , Gertrud Strobl-Wildemann , Annemieke Wagemans , Maaike Vreeburg , Diana Baralle , Nicola Foulds , Ingrid Scurr , Nicola Brunetti-Pierri , Johanna M van Hagen , Emilia K Bijlsma , Anna H Hakonen , Carolina Courage , Lucile Pinson , Francesca Forzano , Charu Deshpande , Maria L Kluskens , Lindsey Welling , Astrid S Plomp , Els K Vanhoutte , Louisa Kalsner , Janna A Hol , Audrey Putoux , Johanna Lazier , Pradeep Vasudevan , Elizabeth Ames , Jessica O'Shea , Damien Lederer , Julie Fleischer , Mary O'Connor , Melissa Pauly , Georgia Vasileiou , André Reis , Catherine Kiraly-Borri , Arjan Bouman , Chris Barnett , Marjan Nezarati , Lauren Borch , Gea Beunders , Kübra Özcan , Stéphanie Miot , Catharina M L Volker-Touw , Koen L I van Gassen , Gerarda Cappuccio , Katrien Janssens , Nofar Mor , Inna Shomer , Dan Dominissini , Matthew L Tedder , Alison M Muir , Bekim Sadikovic , Han G Brunner , Lisenka E L M Vissers , Yoichi Shinkai , Tjitske Kleefstra

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 , Bekim Sadikovic

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Flavien Rouxel , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Michael Levy , Patricia Dias , Mouna Barat-Houari , Nathalie Bednarek , Odile Boute , Nicolas Chatron , Florian Cherik , Andrée Delahaye-Duriez , Martine Doco-Fenzy , Laurence Faivre , Lucas W Gauthier , Delphine Heron , Michael S Hildebrand , Gaëtan Lesca , James Lespinasse , Benoit Mazel , Leonie A Menke , Angela T Morgan , Lucile Pinson , Chloe Quelin , Massimiliano Rossi , Nathalie Ruiz-Pallares , Frederic Tran-Mau-Them , Imke N Van Kessel , Marie Vincent , Mathys Weber , Marjolaine Willems , Gwenael Leguyader , Bekim Sadikovic ,

Evaluation of the Effectiveness of Therapy for Anxiety in Williams Beuren Syndrome Using a Smartphone App: Protocol for a Single-Case Experiment.

JMIR research protocols
Avec: Natacha Lehman , Raphaël Trouillet ,

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

American journal of human genetics
Avec: Tassja Kalm , Claudia Schob , Hanna Völler , Thatjana Gardeitchik , Christian Gilissen , Rolph Pfundt , Chiara Klöckner , Konrad Platzer , Annick Klabunde-Cherwon , Markus Ries , Steffen Syrbe , Francesca Beccaria , Francesca Madia , Marcello Scala , Federico Zara , Floris Hofstede , Marleen E H Simon , Richard H van Jaarsveld , Renske Oegema , Koen L I van Gassen , Sjoerd J B Holwerda , Tahsin Stefan Barakat , Arjan Bouman , Marjon van Slegtenhorst , Sara Álvarez , Alberto Fernández-Jaén , Javier Porta , Andrea Accogli , Margherita Maria Mancardi , Pasquale Striano , Michele Iacomino , Jong-Hee Chae , SeSong Jang , Soo Y Kim , David Chitayat , Saadet Mercimek-Andrews , Christel Depienne , Antje Kampmeier , Alma Kuechler , Harald Surowy , Enrico Silvio Bertini , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Marco Tartaglia , Lucas Gauthier , Mylène Tharreau , Noy Azoulay , Gal Zaks-Hoffer , Nesia K Gilad , Naama Orenstein , Geneviève Bernard , Isabelle Thiffault , Jonas Denecke , Theresia Herget , Fanny Kortüm , Christian Kubisch , Robert Bähring , Stefan Kindler

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Nature communications
Avec: Christy W LaFlamme , Cassandra Rastin , Soham Sengupta , Helen E Pennington , Sophie J Russ-Hall , Amy L Schneider , Emily S Bonkowski , Edith P Almanza Fuerte , Talia J Allan , Miranda Perez-Galey Zalusky , Joy Goffena , Sophia B Gibson , Denis M Nyaga , Nico Lieffering , Malavika Hebbar , Emily V Walker , Daniel Darnell , Scott R Olsen , Pandurang Kolekar , Mohamed Nadhir Djekidel , Wojciech Rosikiewicz , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Raissa Relator , Dorit Lev , Tally Lerman-Sagie , Kristen L Park , Marielle Alders , Gerarda Cappuccio , Nicolas Chatron , Leigh Demain , Gaetan Lesca , Tony Roscioli , Damien Sanlaville , Matthew L Tedder , Sachin Gupta , Elizabeth A Jones , Monika Weisz-Hubshman , Shamika Ketkar , Hongzheng Dai , Kim C Worley , Jill A Rosenfeld , Hsiao-Tuan Chao , Auteur inconnu , Geoffrey Neale , Gemma L Carvill , Auteur inconnu , Zhaoming Wang , Samuel F Berkovic , Lynette G Sadleir , Danny E Miller , Ingrid E Scheffer , Bekim Sadikovic , Heather C Mefford

RNA variant assessment using transactivation and transdifferentiation.

American journal of human genetics
Avec: Emmylou C Nicolas-Martinez , Olivia Robinson , Christian Pflueger , Alison Gardner , Mark A Corbett , Tarin Ritchie , Thessa Kroes , Clare L van Eyk , Ingrid E Scheffer , Michael S Hildebrand , Jean-Vianney Barnier , Véronique Rousseau , Virginie Haushalter , Amélie Piton , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Sophie Nambot , Bertrand Isidor , John Grigg , Tina Gonzalez , Sondhya Ghedia , Rhett G Marchant , Adam Bournazos , Wui-Kwan Wong , Richard I Webster , Frances J Evesson , Kristi J Jones , Auteur inconnu , Sandra T Cooper , Ryan Lister , Jozef Gecz , Lachlan A Jolly

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

BMC medical genomics
Avec: Eric Chater-Diehl , Resham Ejaz , Cheryl Cytrynbaum , Michelle T Siu , Andrei Turinsky , Sanaa Choufani , Sarah J Goodman , Omar Abdul-Rahman , Melanie Bedford , Naghmeh Dorrani , Kendra Engleman , Josue Flores-Daboub , Roberto Mendoza-Londono , Wendy Meschino , Laurence Perrin , Nicole Safina , Sharron Townshend , Stephen W Scherer , Evdokia Anagnostou , Amelie Piton , Matthew Deardorff , Michael Brudno , David Chitayat , Rosanna Weksberg

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 ,

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

HGG advances
Avec: Michael A Levy , Haley McConkey , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Robin S Fletcher , Florian Cherik , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie Ruiz Pallares , Maria Piccione , Simone Pizzi , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Raissa Relator , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella Maria Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , Kristin D Kerrnohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

European journal of human genetics : EJHG
Avec: R Martin , M Splitt , D Genevieve , E Aten , A Collins , C I de Bie , L Faivre , N Foulds , J Giltay , R Ibitoye , S Joss , J Kennedy , B Kerr , E Kivuva , M Koopmans , R Newbury-Ecob , N Jean-Marçais , E A J Peeters , S Smithson , S Tomkins , F Tranmauthem , A Piton , A van Haeringen

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for

International journal of molecular sciences
Avec: Aidin Foroutan , Sadegheh Haghshenas , Pratibha Bhai , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Marcello Niceta , Andrea Ciolfi , Lucia Pedace , Evelina Miele , Solveig Heide , Mariëlle Alders , Giuseppe Zampino , Giuseppe Merla , Mélanie Fradin , Eric Bieth , Dominique Bonneau , Klaus Dieterich , Patricia Fergelot , Elise Schaefer , Laurence Faivre , Antonio Vitobello , Silvia Maitz , Rita Fischetto , Cristina Gervasini , Maria Piccione , Ingrid van de Laar , Marco Tartaglia , Bekim Sadikovic , Anne-Sophie Lebre

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

BMC health services research
Avec: A L Soilly , C Robert-Viard , C Besse , A L Bruel , B Gerard , A Boland , A Piton , Y Duffourd , J Muller , C Poë , T Jouan , S El Doueiri , L Faivre , D Bacq-Daian , B Isidor , D Genevieve , S Odent , N Philip , M Doco-Fenzy , D Lacombe , M L Asensio , J F Deleuze , C Binquet , Auteur inconnu , C Thauvin-Robinet , C Lejeune

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

medRxiv : the preprint server for health sciences
Avec: Christy W LaFlamme , Cassandra Rastin , Soham Sengupta , Helen E Pennington , Sophie J Russ-Hall , Amy L Schneider , Emily S Bonkowski , Edith P Almanza Fuerte , Miranda Galey , Joy Goffena , Sophia B Gibson , Talia J Allan , Denis M Nyaga , Nico Lieffering , Malavika Hebbar , Emily V Walker , Daniel Darnell , Scott R Olsen , Pandurang Kolekar , Nahdir Djekidel , Wojciech Rosikiewicz , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Raissa Relator , Dorit Lev , Tally Lerman-Sagie , Kristen L Park , Marielle Alders , Gerarda Cappuccio , Nicolas Chatron , Leigh Demain , Gaetan Lesca , Tony Roscioli , Damien Sanlaville , Matthew L Tedder , Monika Weisz Hubshman , Shamika Ketkar , Hongzheng Dai , Kim Carlyle Worley , Jill A Rosenfeld , Hsiao-Tuan Chao , Auteur inconnu , Geoffrey Neale , Gemma L Carvill , Auteur inconnu , Zhaoming Wang , Samuel F Berkovic , Lynette G Sadleir , Danny E Miller , Ingrid E Scheffer , Bekim Sadikovic , Heather C Mefford

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Human genetics
Avec: Niels Vos , Sadegheh Haghshenas , Liselot van der Laan , Perle K M Russel , Kathleen Rooney , Michael A Levy , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Saskia M Maas , Lisenka E L M Vissers , Bert B A de Vries , Rolph Pfundt , Mariet W Elting , Johanna M van Hagen , Nienke E Verbeek , Marjolijn C J Jongmans , Phillis Lakeman , Lynne Rumping , Danielle G M Bosch , Antonio Vitobello , Christel Thauvin-Robinet , Laurence Faivre , Sophie Nambot , Aurore Garde , Marjolaine Willems , Gaël Nicolas , Tiffany Busa , Annick Toutain , Marion Gérard , Varoona Bizaoui , Bertrand Isidor , Giuseppe Merla , Maria Accadia , Charles E Schwartz , Katrin Ounap , Mariëtte J V Hoffer , Marjan M Nezarati , Marie-José H van den Boogaard , Matthew L Tedder , Curtis Rogers , Alfredo Brusco , Giovanni B Ferrero , Marta Spodenkiewicz , Richard Sidlow , Alessandro Mussa , Slavica Trajkova , Emma McCann , Henry J Mroczkowski , Sandra Jansen , Laura Donker-Kaat , Floor A M Duijkers , Kyra E Stuurman , Marcel M A M Mannens , Mariëlle Alders , Peter Henneman , Susan M White , Bekim Sadikovic , Mieke M van Haelst

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sadegheh Haghshenas , Audrey Putoux , Jack Reilly , Michael A Levy , Raissa Relator , Sourav Ghosh , Jennifer Kerkhof , Haley McConkey , Patrick Edery , Gaetan Lesca , Alicia Besson , Christine Coubes , Marjolaine Willems , Nathalie Ruiz-Pallares , Mouna Barat-Houari , Eduardo F Tizzano , Irene Valenzuela , Quentin Sabbagh , Jill Clayton-Smith , Adam Jackson , James O'Sullivan , Rebecca Bromley , Siddharth Banka , Bekim Sadikovic

Réseau de co-auteurs

Jennifer Kerkhof 11 collaborations
Bekim Sadikovic 11 collaborations
Haley McConkey 10 collaborations
None None 8 collaborations
Michael A Levy 8 collaborations
Mouna Barat-Houari 7 collaborations
Matthew L Tedder 7 collaborations
Raissa Relator 7 collaborations
Laurence Faivre 7 collaborations
Gaetan Lesca 6 collaborations
Boris Keren 6 collaborations
Antonio Vitobello 6 collaborations
Ingrid E Scheffer 5 collaborations
Marjolaine Willems 5 collaborations
Gerarda Cappuccio 5 collaborations
Sadegheh Haghshenas 5 collaborations
Giuseppe Merla 5 collaborations
Marco Tartaglia 5 collaborations
Marielle Alders 5 collaborations
Cyril Mignot 4 collaborations
Alexandra Afenjar 4 collaborations
Heather C Mefford 4 collaborations
Lynette G Sadleir 4 collaborations
Jack Reilly 4 collaborations
Jennifer A Lee 4 collaborations
Andrea Ciolfi 4 collaborations
Christel Thauvin-Robinet 4 collaborations
Siddharth Banka 4 collaborations
Jozef Gecz 4 collaborations
Peter Henneman 4 collaborations
Tony Roscioli 4 collaborations
Bertrand Isidor 4 collaborations
Nicolas Chatron 4 collaborations
Damien Sanlaville 4 collaborations
Salima El Chehadeh 3 collaborations
Anne-Sophie Lebre 3 collaborations
Sylvie Odent 3 collaborations
Florian Cherik 3 collaborations
Michael Levy 3 collaborations
Christine Coubes 3 collaborations
Raymond J Louie 3 collaborations
Christèle Dubourg 3 collaborations
Mélanie Fradin 3 collaborations
Flavien Rouxel 3 collaborations
Barbara R DuPont 3 collaborations
Mariet W Elting 3 collaborations
Aidin Foroutan 3 collaborations
Michael J Friez 3 collaborations
Cristina Gervasini 3 collaborations
Silvia Maitz 3 collaborations
Angela T Morgan 3 collaborations
Renske Oegema 3 collaborations
Maria Piccione 3 collaborations
Astrid S Plomp 3 collaborations
Kathleen Rooney 3 collaborations
Justine Rousseau 3 collaborations
Gijs W E Santen 3 collaborations
Niels Vos 3 collaborations
Marcel M A M Mannens 3 collaborations
Nicola Brunetti-Pierri 3 collaborations
Philippe M Campeau 3 collaborations
Leonie A Menke 3 collaborations
Steven A Skinner 3 collaborations
Roger E Stevenson 3 collaborations
Marie Vincent 3 collaborations
Marlène Rio 3 collaborations
Rolph Pfundt 3 collaborations
Nathalie Ruiz-Pallares 3 collaborations
Mariëlle Alders 3 collaborations
Simone Pizzi 3 collaborations
Claire Bar 2 collaborations
Giulia Barcia 2 collaborations
Mélanie Jennesson 2 collaborations
Gwenaël Le Guyader 2 collaborations
Amy Schneider 2 collaborations
Delphine Breuillard 2 collaborations
Martino Montomoli 2 collaborations
Diane Doummar 2 collaborations
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