Audrey Labalme

Affiliations
  • Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon, Lyon, France.

Publications (38)

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Gabrielle Rudolf , Julitta de Bellescize , Anne de Saint Martin , Alexis Arzimanoglou , Maria Paola Valenti Hirsch , Audrey Labalme , Clotilde Boulay , Thomas Simonet , Anne Boland , Jean François Deleuze , Patrick Nitschké , Emmanuelle Ollivier , Damien Sanlaville , Edouard Hirsch , Jamel Chelly , Gaetan Lesca

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

European journal of medical genetics
Avec: Sara Cabet , Gaetan Lesca , Audrey Labalme , Vincent Des Portes , Laurent Guibaud , Damien Sanlaville , Linda Pons

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.

Annals of neurology
Avec: Laure Mazzola , Karen L Oliver , Audrey Labalme , Betül Baykan , Mikko Muona , Tarja H Joensuu , Carolina Courage , Nicolas Chatron , Giuseppe Borsani , Eudeline Alix , Francis Ramond , Renaud Touraine , Melanie Bahlo , Nerses Bebek , Samuel F Berkovic , Anna-Elina Lehesjoki , Gaetan Lesca

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Laura Castilla-Vallmanya , Kaja K Selmer , Clémantine Dimartino , Raquel Rabionet , Bernardo Blanco-Sánchez , Sandra Yang , Margot R F Reijnders , Antonie J van Essen , Myriam Oufadem , Magnus D Vigeland , Barbro Stadheim , Gunnar Houge , Helen Cox , Helen Kingston , Jill Clayton-Smith , Jeffrey W Innis , Maria Iascone , Anna Cereda , Sara Gabbiadini , Wendy K Chung , Victoria Sanders , Joel Charrow , Emily Bryant , John Millichap , Antonio Vitobello , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Gaetan Lesca , Audrey Labalme , Christelle Rougeot , Nicolas Chatron , Damien Sanlaville , Katherine M Christensen , Amelia Kirby , Raymond Lewandowski , Rachel Gannaway , Maha Aly , Anna Lehman , Lorne Clarke , Luitgard Graul-Neumann , Christiane Zweier , Davor Lessel , Bernarda Lozic , Ingvild Aukrust , Ryan Peretz , Robert Stratton , Thomas Smol , Anne Dieux-Coëslier , Joanna Meira , Elizabeth Wohler , Nara Sobreira , Erin M Beaver , Jennifer Heeley , Lauren C Briere , Frances A High , David A Sweetser , Melissa A Walker , Catherine E Keegan , Parul Jayakar , Marwan Shinawi , Wilhelmina S Kerstjens-Frederikse , Dawn L Earl , Victoria M Siu , Emma Reesor , Tony Yao , Robert A Hegele , Olena M Vaske , Shannon Rego , Auteur inconnu , Kevin A Shapiro , Brian Wong , Michael J Gambello , Marie McDonald , Danielle Karlowicz , Roberto Colombo , Alessandro Serretti , Lynn Pais , Anne O'Donnell-Luria , Alison Wray , Simon Sadedin , Belinda Chong , Tiong Y Tan , John Christodoulou , Susan M White , Anne Slavotinek , Deborah Barbouth , Dayna Morel Swols , Mélanie Parisot , Christine Bole-Feysot , Patrick Nitschké , Véronique Pingault , Arnold Munnich , Megan T Cho , Valérie Cormier-Daire , Susanna Balcells , Stanislas Lyonnet , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.

BMC medical genetics
Avec: Alice Poisson , Nicolas Chatron , Audrey Labalme , Pierre Fourneret , Dorothée Ville , Marie Laure Mathieu , Damien Sanlaville , Caroline Demily , Gaëtan Lesca

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Molecular genetics & genomic medicine
Avec: Amerh Salem Alqahtani , Audrey Putoux , Marie Noelle Bonnet Dupeyron , Maryline Carneiro , Laurence Lion-Francois , Massimiliano Rossi , Hélène Tevissen , Caroline Schluth Bolard , Audrey Labalme , Gaetan Lesca , Marianne Till , Patrick Edery , Damien Sanlaville

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Clinical epigenetics
Avec: I M Krzyzewska , S M Maas , P Henneman , K V D Lip , A Venema , K Baranano , A Chassevent , E Aref-Eshghi , A J van Essen , T Fukuda , H Ikeda , M Jacquemont , H-G Kim , A Labalme , S M E Lewis , G Lesca , I Madrigal , S Mahida , N Matsumoto , R Rabionet , E Rajcan-Separovic , Y Qiao , B Sadikovic , H Saitsu , D A Sweetser , M Alders , M M A M Mannens

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Holly K Harris , Tojo Nakayama , Jenny Lai , Boxun Zhao , Nikoleta Argyrou , Cynthia S Gubbels , Aubrie Soucy , Casie A Genetti , Victoria Suslovitch , Lance H Rodan , George E Tiller , Gaetan Lesca , Karen W Gripp , Reza Asadollahi , Ada Hamosh , Carolyn D Applegate , Peter D Turnpenny , Marleen E H Simon , Catharina M L Volker-Touw , Koen L I van Gassen , Ellen van Binsbergen , Rolph Pfundt , Thatjana Gardeitchik , Bert B A de Vries , LaDonna L Immken , Catherine Buchanan , Marcia Willing , Tomi L Toler , Emily Fassi , Laura Baker , Fleur Vansenne , Xiadong Wang , Julian L Ambrus , Madeleine Fannemel , Jennifer E Posey , Emanuele Agolini , Antonio Novelli , Anita Rauch , Paranchai Boonsawat , Christina R Fagerberg , Martin J Larsen , Maria Kibaek , Audrey Labalme , Alice Poisson , Katelyn K Payne , Laurence E Walsh , Kimberly A Aldinger , Jorune Balciuniene , Cara Skraban , Christopher Gray , Jill Murrell , Caleb P Bupp , Giulia Pascolini , Paola Grammatico , Martin Broly , Sébastien Küry , Mathilde Nizon , Iqra Ghulam Rasool , Muhammad Yasir Zahoor , Cornelia Kraus , André Reis , Muhammad Iqbal , Kevin Uguen , Severine Audebert-Bellanger , Claude Ferec , Sylvia Redon , Janice Baker , Yunhong Wu , Guiseppe Zampino , Steffan Syrbe , Ines Brosse , Rami Abou Jamra , William B Dobyns , Lilian L Cohen , Anne Blomhoff , Cyril Mignot , Boris Keren , Thomas Courtin , Pankaj B Agrawal , Alan H Beggs , Timothy W Yu

Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders.

Molecular human reproduction
Avec: T Yammine , N Reynaud , H Lejeune , F Diguet , P A Rollat-Farnier , A Labalme , I Plotton , C Farra , D Sanlaville , E Chouery , C Schluth-Bolard

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence.

Cytogenetic and genome research
Avec: Julie Masson , Massimiliano Rossi , Audrey Labalme , Marianne Till , Detlef Trost , Isabelle Morin , Caroline Schluth-Bolard , Damien Sanlaville

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

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

Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.

Pharmacological research
Avec: Maria Virginia Soldovieri , Elena Freri , Paolo Ambrosino , Ilaria Rivolta , Ilaria Mosca , Anna Binda , Carmen Murano , Francesca Ragona , Laura Canafoglia , Chiara Vannicola , Roberta Solazzi , Tiziana Granata , Barbara Castellotti , Giuliana Messina , Cinzia Gellera , Audrey Labalme , Gaetan Lesca , Jacopo C DiFrancesco , Maurizio Taglialatela

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.

Journal of clinical immunology
Avec: Maud Tusseau , Ema Lovšin , Charlotte Samaille , Rémi Pescarmona , Anne-Laure Mathieu , Maria-Cristina Maggio , Velma Selmanović , Marusa Debeljak , Angelique Dachy , Gregor Novljan , Alexandre Janin , Louis Januel , Jean-Baptiste Gibier , Emilie Chopin , Isabelle Rouvet , David Goncalves , Nicole Fabien , Gillian I Rice , Gaétan Lesca , Audrey Labalme , Paola Romagnani , Thierry Walzer , Sebastien Viel , Magali Perret , Yanick J Crow , Tadej Avčin , Rolando Cimaz , Alexandre Belot

Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.

Frontiers in pharmacology
Avec: Ilaria Mosca , Ilaria Rivolta , Audrey Labalme , Paolo Ambrosino , Barbara Castellotti , Cinzia Gellera , Tiziana Granata , Elena Freri , Anna Binda , Gaetan Lesca , Jacopo C DiFrancesco , Maria Virginia Soldovieri , Maurizio Taglialatela

GRM7-related disorder: Five additional patients from three independent families and review of the literature.

European journal of medical genetics
Avec: Louis Januel , Nicolas Chatron , Clotilde Rivier Ringenbach , Sara Cabet , Audrey Labalme , Yavuz Sahin , Hossein Darvish , Michael Kruer , Somayeh Bakhtiari , Damien Sanlaville , Jean Madeleine de Sainte Agathe , Gaetan Lesca

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

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Human mutation
Avec: Godelieve Morel , Céline Duhamel , Simon Boussion , Frédéric Frénois , Gaetan Lesca , Nicolas Chatron , Audrey Labalme , Damien Sanlaville , Patrick Edery , Julien Thevenon , Laurence Faivre , Alice Fassier , Olivier Prodhomme , Fabienne Escande , Sylvie Manouvrier , Florence Petit , David Geneviève , Massimiliano Rossi

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.

Cytogenetic and genome research
Avec: Pauline Monin , Nicolas Reynaud , Nadine Hanna , Sophie Dupuis-Girod , Marianne Till , Pauline Arnaud , Audrey Labalme , Eudeline Alix , Coline Poizat-Amar , Marie Faoucher , Lucie Ravella , Bernard Debost , Jean-François Obadia , Jean-Christophe Zech , Catherine Boileau , Damien Sanlaville , Patrick Edery , Audrey Putoux , Caroline Schluth-Bolard

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

European journal of medical genetics
Avec: Sara Cabet , Audrey Putoux , Maryline Carneiro , Audrey Labalme , Damien Sanlaville , Laurent Guibaud , Gaetan Lesca

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Orphanet journal of rare diseases
Avec: Julie Masson , Caroline Demily , Nicolas Chatron , Audrey Labalme , Pierre-Antoine Rollat-Farnier , Caroline Schluth-Bolard , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Renaud Touraine , Sylvie Tordjman , Alain Verloes , Giuseppe Testa , Damien Sanlaville , Patrick Edery , Gaetan Lesca , Massimiliano Rossi

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Human mutation
Avec: Penelope Jordan , Guillaume Dorval , Christelle Arrondel , Vincent Morinière , Carole Tournant , Marie-Pierre Audrezet , Laurence Michel-Calemard , Audrey Putoux , Gaethan Lesca , Audrey Labalme , Sandra Whalen , Laurence Loeuillet , Jelena Martinovic , Tania Attie-Bitach , Bettina Bessières , Elise Schaefer , Sophie Scheidecker , Laetitia Lambert , Claire Beneteau , Olivier Patat , Odile Boute-Benejean , Arnaud Molin , Fabien Guimiot , Nicolas Fontanarosa , Mathilde Nizon , Mathilde Lefebvre , Cécile Jeanpierre , Sophie Saunier , Laurence Heidet

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

American journal of human genetics
Avec: Hui Guo , Qiumeng Zhang , Rujia Dai , Bin Yu , Kendra Hoekzema , Jieqiong Tan , Senwei Tan , Xiangbin Jia , Wendy K Chung , Rebecca Hernan , Fowzan S Alkuraya , Ahood Alsulaiman , Mohammad A Al-Muhaizea , Gaetan Lesca , Linda Pons , Audrey Labalme , Linda Laux , Emily Bryant , Natasha J Brown , Elena Savva , Samantha Ayres , Dhamidhu Eratne , Hilde Peeters , Frédéric Bilan , Lucile Letienne-Cejudo , Brigitte Gilbert-Dussardier , Inge-Lore Ruiz-Arana , Jenny Meylan Merlini , Alexia Boizot , Lucia Bartoloni , Federico Santoni , Danielle Karlowicz , Marie McDonald , Huidan Wu , Zhengmao Hu , Guodong Chen , Jianjun Ou , Charlotte Brasch-Andersen , Christina R Fagerberg , Inken Dreyer , Anne Chun-Hui Tsai , Valerie Slegesky , Rose B McGee , Brina Daniels , Elizabeth A Sellars , Lori A Carpenter , Bradley Schaefer , Maria J Guillen Sacoto , Amber Begtrup , Rhonda E Schnur , Sumit Punj , Ingrid M Wentzensen , Lindsay Rhodes , Qian Pan , Raphael A Bernier , Chao Chen , Evan E Eichler , Kun Xia

Gain of function due to increased opening probability by two

Proceedings of the National Academy of Sciences of the United States of America
Avec: Mario Nappi , Vincenzo Barrese , Lidia Carotenuto , Gaetan Lesca , Audrey Labalme , Dorothee Ville , Thomas Smol , Mélanie Rama , Anne Dieux-Coeslier , Clotilde Rivier-Ringenbach , Maria Virginia Soldovieri , Paolo Ambrosino , Ilaria Mosca , Michael Pusch , Francesco Miceli , Maurizio Taglialatela

Molecular and Phenotypic Characterization of the

Neurology
Avec: Zeynep Gokce-Samar , Annalisa Vetro , Julitta De Bellescize , Tiziana Pisano , Laloe Monteiro , Noémie Penaud , Christian M Korff , Joel Fluss , Carla Marini , Elisabetta Cesaroni , Blanca Mercedes Alvarez , Damien Sanlaville , Nicolas Chatron , Alexis A Arzimanoglou , Audrey Labalme , Vishnu A Cuddapah , Sarah M Ruggiero , Francois Lecoquierre , Gael Nicolas , Guerrot Anne Marie , Axel Lebas , Herve O Testard , Katherine L Helbig , Anna Ruiz , Adeline Ngoh , Manju A Kurian , Kimberley Reid , Robert Spaull , Pascal Joset , Georgia Ramantani , Katharina Steindl , Martin Krenn , Lucia Gerstl , Silvia Vieker , Dana Craiu , Manuela Pendziwiat , Chad Haldeman-Englert , Ilya Kanivets , Irina Romanova , Deepa S Rajan , Jill A Rosenfeld , Margaret Au , Katheryn Grand , John M , Arnaud Isapof , Nathalie Villeneuve , Thomas Smol , Roseline Caumes , Pia Zacher , Sonja Neuser , Sigrid Tinschert , Konrad Platzer , Tobias Bartolomaeus , Ines Mohnke , Maximilian Radtke , Rami Abou Jamra , Ingo Helbig , Floortje E Jansen , Klaas Koop , Gabrielle Rudolf , Sebastien Küry , Julien Courchet , Renzo Guerrini , Gaetan Lesca

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.

Epilepsia
Avec: Lotten Ragnarsson , Zihan Zhang , Sooraj S Das , Poanna Tran , Åsa Andersson , Vincent des Portes , Cecilia Desmettre Altuzarra , Ganaelle Remerand , Audrey Labalme , Nicolas Chatron , Damien Sanlaville , Gaetan Lesca , Victor Anggono , Irina Vetter , Angelo Keramidas

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Epilepsia open
Avec: Mariagrazia Talarico , Francesco Fortunato , Audrey Labalme , Louis Januel , Nicolas Chatron , Damien Sanlaville , Ilaria Sammarra , Monica Gagliardi , Radha Procopio , Paola Valentino , Grazia Annesi , Gaetan Lesca , Antonio Gambardella

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the

Molecular syndromology
Avec: Linda Pons , Patrice Bouvagnet , Mohamed Bakloul , Sylvie Di Filippo , Adrien Buisson , Nicolas Chatron , Audrey Labalme , Olivier Metton , Julia Mitchell , Flavie Diguet , Pierre-Antoine Rollat-Farnier , Damien Sanlaville , Caroline Schluth-Bolard

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Brain : a journal of neurology
Avec: Nicolas Chatron , Sara Cabet , Eudeline Alix , Annie Buenerd , Phillip Cox , Laurent Guibaud , Audrey Labalme , Peter Marks , Deborah Osio , Audrey Putoux , Damien Sanlaville , Gaetan Lesca , Alexandre Vasiljevic

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing.

Journal of thrombosis and haemostasis : JTH
Avec: Nicolas Chatron , Caroline Schluth-Bolard , Mathilde Frétigny , Audrey Labalme , Gaëlle Vilchez , Sabine-Marie Castet , Claude Négrier , Damien Sanlaville , Christine Vinciguerra , Yohann Jourdy

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Molecular genetics and metabolism reports
Avec: Marie Faoucher , Anne-Lise Poulat , Nicolas Chatron , Audrey Labalme , Caroline Schluth-Bolard , Marianne Till , Christine Vianey-Saban , Vincent Des Portes , Patrick Edery , Damien Sanlaville , Gaëtan Lesca , Cécile Acquaviva

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

European journal of medical genetics
Avec: Linda Pons , Isabelle Sabatier , Eudeline Alix , Marie Faoucher , Audrey Labalme , Damien Sanlaville , Gaetan Lesca

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Brain : a journal of neurology
Avec: Nicolas Chatron , Felicitas Becker , Heba Morsy , Miriam Schmidts , Katia Hardies , Beyhan Tuysuz , Sandra Roselli , Maryam Najafi , Dilek Uludag Alkaya , Farah Ashrafzadeh , Amira Nabil , Tarek Omar , Reza Maroofian , Ehsan Ghayoor Karimiani , Haytham Hussien , Fernando Kok , Luiza Ramos , Nilay Gunes , Kaya Bilguvar , Audrey Labalme , Eudeline Alix , Damien Sanlaville , Julitta de Bellescize , Anne-Lise Poulat , Auteur inconnu , Ali-Reza Moslemi , Holger Lerche , Patrick May , Gaetan Lesca , Sarah Weckhuysen , Homa Tajsharghi

Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.

Epileptic disorders : international epilepsy journal with videotape
Avec: Dorothée Ville , Gaetan Lesca , Audrey Labalme , Vincent des Portes , Alexis Arzimanoglou , Julitta de Bellescize

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.

European journal of medical genetics
Avec: Lucas W Gauthier , Nicolas Chatron , Sara Cabet , Audrey Labalme , Maryline Carneiro , Isabelle Poirot , Céline Delvert , Arnaud Gleizal , Gaetan Lesca , Audrey Putoux

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia
Avec: Yohann Jourdy , Claire Bardel , Mathilde Fretigny , Flavie Diguet , Pierre-Antoine Rollat-Farnier , Marie-Laure Mathieu , Audrey Labalme , Damien Sanlaville , Patrick Edery , Christine Vinciguerra , Caroline Schluth-Bolard

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

European journal of medical genetics
Avec: Lionel Arnaud , Marie-Thérèse Abi Warde , Giulia Barcia , Julitta de Bellescize , Nicolas Chatron , Marie Faoucher , Anne de Saint Martin , Delphine Héron , Guillaume Jedraszak , Caroline Lacoste , Anne-Sophie Lèbre , Mélanie Jenneson-Lyver , Audrey Labalme , Eric Leguern , Cyril Mignot , Mathieu Milh , Rima Nabbout , Caroline Nava , Eleni Panagiotakaki , Amélie Piton , Elise Schaefer , Julien Thevenon , Laurent Villard , Dorothée Ville , Gaetan Lesca

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.

EBioMedicine
Avec: Johanna Krüger , Julian Schubert , Josua Kegele , Audrey Labalme , Miaomiao Mao , Jacqueline Heighway , Guiscard Seebohm , Pu Yan , Mahmoud Koko , Kezban Aslan-Kara , Hande Caglayan , Bernhard J Steinhoff , Yvonne G Weber , Pascale Keo-Kosal , Samuel F Berkovic , Michael S Hildebrand , Steven Petrou , Roland Krause , Patrick May , Gaetan Lesca , Snezana Maljevic , Holger Lerche

Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.

Genes
Avec: Laura Mary , Delphine Leclerc , Audrey Labalme , Pascale Bellaud , Séverine Mazaud-Guittot , Stéphane Dréano , Bertrand Evrard , Antoine Bigand , Aurélie Cauchoix , Philippe Loget , Anna Lokchine , Laurence Cluzeau , David Gilot , Marc-Antoine Belaud-Rotureau , Sylvie Jaillard

Réseau de co-auteurs

Gaetan Lesca 26 collaborations
Damien Sanlaville 23 collaborations
Nicolas Chatron 18 collaborations
Patrick Edery 8 collaborations
Caroline Schluth-Bolard 8 collaborations
Audrey Putoux 7 collaborations
Sara Cabet 5 collaborations
Linda Pons 5 collaborations
Eudeline Alix 5 collaborations
Massimiliano Rossi 5 collaborations
Julitta de Bellescize 4 collaborations
Marianne Till 4 collaborations
Pierre-Antoine Rollat-Farnier 4 collaborations
Marie Faoucher 4 collaborations
Laurent Guibaud 3 collaborations
Laurence Faivre 3 collaborations
Thomas Smol 3 collaborations
Alice Poisson 3 collaborations
Dorothée Ville 3 collaborations
Maryline Carneiro 3 collaborations
Cyril Mignot 3 collaborations
Flavie Diguet 3 collaborations
Maria Virginia Soldovieri 3 collaborations
Paolo Ambrosino 3 collaborations
Ilaria Mosca 3 collaborations
Maurizio Taglialatela 3 collaborations
Louis Januel 3 collaborations
Gabrielle Rudolf 2 collaborations
Anne de Saint Martin 2 collaborations
Alexis Arzimanoglou 2 collaborations
Thomas Simonet 2 collaborations
Patrick Nitschké 2 collaborations
Vincent Des Portes 2 collaborations
Renaud Touraine 2 collaborations
Samuel F Berkovic 2 collaborations
Wendy K Chung 2 collaborations
Emily Bryant 2 collaborations
Antonio Vitobello 2 collaborations
None None 2 collaborations
Marie McDonald 2 collaborations
Danielle Karlowicz 2 collaborations
Caroline Demily 2 collaborations
Gaëtan Lesca 2 collaborations
A Labalme 2 collaborations
Christina R Fagerberg 2 collaborations
Mathilde Nizon 2 collaborations
Rami Abou Jamra 2 collaborations
Boris Keren 2 collaborations
Julie Masson 2 collaborations
Claire Bardel 2 collaborations
Elena Freri 2 collaborations
Ilaria Rivolta 2 collaborations
Anna Binda 2 collaborations
Tiziana Granata 2 collaborations
Barbara Castellotti 2 collaborations
Cinzia Gellera 2 collaborations
Jacopo C DiFrancesco 2 collaborations
Sophie Dupuis-Girod 2 collaborations
Sandra Whalen 2 collaborations
Delphine Héron 2 collaborations
Julien Thevenon 2 collaborations
Brigitte Gilbert-Dussardier 2 collaborations
Elise Schaefer 2 collaborations
Vincent des Portes 2 collaborations
Christine Vinciguerra 2 collaborations
Yohann Jourdy 2 collaborations
Anne-Lise Poulat 2 collaborations
Holger Lerche 2 collaborations
Patrick May 2 collaborations
Maria Paola Valenti Hirsch 1 collaboration
Clotilde Boulay 1 collaboration
Anne Boland 1 collaboration
Jean François Deleuze 1 collaboration
Emmanuelle Ollivier 1 collaboration
Edouard Hirsch 1 collaboration
Jamel Chelly 1 collaboration
Laure Mazzola 1 collaboration
Karen L Oliver 1 collaboration
Betül Baykan 1 collaboration
Mikko Muona 1 collaboration
Tarja H Joensuu 1 collaboration
Carolina Courage 1 collaboration
Giuseppe Borsani 1 collaboration
Francis Ramond 1 collaboration
Melanie Bahlo 1 collaboration
Nerses Bebek 1 collaboration
Anna-Elina Lehesjoki 1 collaboration
Laura Castilla-Vallmanya 1 collaboration
Kaja K Selmer 1 collaboration
Clémantine Dimartino 1 collaboration
Raquel Rabionet 1 collaboration
Bernardo Blanco-Sánchez 1 collaboration
Sandra Yang 1 collaboration
Margot R F Reijnders 1 collaboration
Antonie J van Essen 1 collaboration
Myriam Oufadem 1 collaboration
Magnus D Vigeland 1 collaboration
Barbro Stadheim 1 collaboration
Gunnar Houge 1 collaboration
Helen Cox 1 collaboration
Helen Kingston 1 collaboration
Jill Clayton-Smith 1 collaboration
Jeffrey W Innis 1 collaboration
Maria Iascone 1 collaboration
Anna Cereda 1 collaboration
Sara Gabbiadini 1 collaboration
Victoria Sanders 1 collaboration
Joel Charrow 1 collaboration
John Millichap 1 collaboration
Christel Thauvin 1 collaboration
Frederic Tran Mau-Them 1 collaboration
Christelle Rougeot 1 collaboration
Katherine M Christensen 1 collaboration
Amelia Kirby 1 collaboration
Raymond Lewandowski 1 collaboration
Rachel Gannaway 1 collaboration
Maha Aly 1 collaboration
Anna Lehman 1 collaboration
Lorne Clarke 1 collaboration
Luitgard Graul-Neumann 1 collaboration
Christiane Zweier 1 collaboration
Davor Lessel 1 collaboration
Bernarda Lozic 1 collaboration
Ingvild Aukrust 1 collaboration
Ryan Peretz 1 collaboration
Robert Stratton 1 collaboration
Anne Dieux-Coëslier 1 collaboration
Joanna Meira 1 collaboration
Elizabeth Wohler 1 collaboration
Nara Sobreira 1 collaboration
Erin M Beaver 1 collaboration
Jennifer Heeley 1 collaboration
Lauren C Briere 1 collaboration
Frances A High 1 collaboration
David A Sweetser 1 collaboration
Melissa A Walker 1 collaboration
Catherine E Keegan 1 collaboration
Parul Jayakar 1 collaboration
Marwan Shinawi 1 collaboration
Wilhelmina S Kerstjens-Frederikse 1 collaboration
Dawn L Earl 1 collaboration
Victoria M Siu 1 collaboration
Emma Reesor 1 collaboration
Tony Yao 1 collaboration
Robert A Hegele 1 collaboration
Olena M Vaske 1 collaboration
Shannon Rego 1 collaboration
Kevin A Shapiro 1 collaboration
Brian Wong 1 collaboration
Michael J Gambello 1 collaboration
Roberto Colombo 1 collaboration
Alessandro Serretti 1 collaboration
Lynn Pais 1 collaboration
Anne O'Donnell-Luria 1 collaboration
Alison Wray 1 collaboration
Simon Sadedin 1 collaboration
Belinda Chong 1 collaboration
Tiong Y Tan 1 collaboration
John Christodoulou 1 collaboration
Susan M White 1 collaboration
Anne Slavotinek 1 collaboration
Deborah Barbouth 1 collaboration
Dayna Morel Swols 1 collaboration
Mélanie Parisot 1 collaboration
Christine Bole-Feysot 1 collaboration
Véronique Pingault 1 collaboration
Arnold Munnich 1 collaboration
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