Damien Sanlaville

Affiliations

Hospices Civils de Lyon, GHE, Genetics department, and Lyon University, 69000 Lyon, France.

Publications (83)

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

American journal of human genetics

Avec: Justyna A Karolak , Marie Vincent , Gail Deutsch , Tomasz Gambin , Benjamin Cogné , Olivier Pichon , Francesco Vetrini , Heather C Mefford , Jennifer N Dines , Katie Golden-Grant , Katrina Dipple , Amanda S Freed , Kathleen A Leppig , Megan Dishop , David Mowat , Bruce Bennetts , Andrew J Gifford , Martin A Weber , Anna F Lee , Cornelius F Boerkoel , Tina M Bartell , Catherine Ward-Melver , Thomas Besnard , Florence Petit , Iben Bache , Zeynep Tümer , Marie Denis-Musquer , Madeleine Joubert , Jelena Martinovic , Claire Bénéteau , Arnaud Molin , Dominique Carles , Gwenaelle André , Eric Bieth , Nicolas Chassaing , Louise Devisme , Lara Chalabreysse , Laurent Pasquier , Véronique Secq , Massimiliano Don , Maria Orsaria , Chantal Missirian , Jérémie Mortreux , Damien Sanlaville , Linda Pons , Sébastien Küry , Stéphane Bézieau , Jean-Michel Liet , Nicolas Joram , Tiphaine Bihouée , Daryl A Scott , Chester W Brown , Fernando Scaglia , Anne Chun-Hui Tsai , Dorothy K Grange , John A Phillips , Jean P Pfotenhauer , Shalini N Jhangiani , Claudia G Gonzaga-Jauregui , Wendy K Chung , Galen M Schauer , Mark H Lipson , Catherine L Mercer , Arie van Haeringen , Qian Liu , Edwina Popek , Zeynep H Coban Akdemir , James R Lupski , Przemyslaw Szafranski , Bertrand Isidor , Cedric Le Caignec , Paweł Stankiewicz

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.

Prenatal diagnosis

Avec: Marguerite Hureaux , Sarah Guterman , Bérénice Hervé , Marianne Till , Sylvie Jaillard , Sylvie Redon , Myléne Valduga , Charles Coutton , Chantal Missirian , Fabienne Prieur , Brigitte Simon-Bouy , Claire Beneteau , Paul Kuentz , Caroline Rooryck , Nicolas Gruchy , Nathalie Marle , Morgane Plutino , Lucie Tosca , Celine Dupont , Jacques Puechberty , Caroline Schluth-Bolard , Laurent Salomon , Damien Sanlaville , Valérie Malan , François Vialard

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

European journal of medical genetics

Avec: J Delanne , S Nambot , A Chassagne , O Putois , A Pelissier , C Peyron , E Gautier , J Thevenon , E Cretin , A L Bruel , V Goussot , F Ghiringhelli , R Boidot , F Tran Mau-Them , C Philippe , A Vitobello , L Demougeot , C Vernin , A S Lapointe , M Bardou , M Luu , C Binquet , C Lejeune , L Joly , C Juif , A Baurand , C Sawka , G Bertolone , Y Duffourd , D Sanlaville , P Pujol , D Geneviève , F Houdayer , C Thauvin-Robinet , L Faivre

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

Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Nature communications

Avec: Jérôme Hadjadj , Carla Noemi Castro , Maud Tusseau , Marie-Claude Stolzenberg , Fabienne Mazerolles , Nathalie Aladjidi , Martin Armstrong , Houman Ashrafian , Ioana Cutcutache , Georg Ebetsberger-Dachs , Katherine S Elliott , Isabelle Durieu , Nicole Fabien , Mathieu Fusaro , Maximilian Heeg , Yohan Schmitt , Marc Bras , Julian C Knight , Jean-Christophe Lega , Gaetan Lesca , Anne-Laure Mathieu , Marion Moreews , Baptiste Moreira , Audrey Nosbaum , Matthew Page , Cécile Picard , T Ronan Leahy , Isabelle Rouvet , Ethel Ryan , Damien Sanlaville , Klaus Schwarz , Andrew Skelton , Jean-Francois Viallard , Sebastien Viel , Marine Villard , Isabelle Callebaut , Capucine Picard , Thierry Walzer , Stephan Ehl , Alain Fischer , Bénédicte Neven , Alexandre Belot , Frédéric Rieux-Laucat

[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development].

Medecine sciences : M/S

Avec: Sara Cabet , Laurent Guibaud , Damien Sanlaville

Pulse transit time as a diagnostic test for OSA in children with Down syndrome.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

Avec: Iulia Ioan , Diane Weick , François Sevin , Damien Sanlaville , Bénédicte De Fréminville , Cyril Schweitzer , Mohamed Akkari , Laurianne Coutier , Benjamin Putois , Marine Thieux , Patricia Franco

Creatinine levels in French children with Down syndrome up to ten years old.

European journal of pediatrics

Avec: Joanna Pautonnier , Sylvie Goutte , Laurence Derain Dubourg , Justine Bacchetta , Bruno Ranchin , Muriel Rabilloud , Damien Sanlaville

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

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Molecular genetics & genomic medicine

Avec: Kévin Uguen , Claire Jubin , Yannis Duffourd , Claire Bardel , Valérie Malan , Jean-Michel Dupont , Laila El Khattabi , Nicolas Chatron , Antonio Vitobello , Pierre-Antoine Rollat-Farnier , Céline Baulard , Marc Lelorch , Aurélie Leduc , Emilie Tisserant , Frédéric Tran Mau-Them , Vincent Danjean , Marc Delepine , Marianne Till , Vincent Meyer , Stanislas Lyonnet , Anne-Laure Mosca-Boidron , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet , Caroline Schluth-Bolard , Anne Boland , Robert Olaso , Patrick Callier , Serge Romana , Jean-François Deleuze , Damien Sanlaville

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Bettina E Mucha , Siddharth Banka , Norbert Fonya Ajeawung , Sirinart Molidperee , Gary G Chen , Mary Kay Koenig , Rhamat B Adejumo , Marianne Till , Michael Harbord , Renee Perrier , Emmanuelle Lemyre , Renee-Myriam Boucher , Brian G Skotko , Jessica L Waxler , Mary Ann Thomas , Jennelle C Hodge , Jozef Gecz , Jillian Nicholl , Lesley McGregor , Tobias Linden , Sanjay M Sisodiya , Damien Sanlaville , Sau W Cheung , Carl Ernst , Philippe M Campeau

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

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

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.

Neurogenetics

Avec: Idriss Bousquet , Muriel Bozon , Valérie Castellani , Renaud Touraine , Amélie Piton , Bénédicte Gérard , Laurent Guibaud , Damien Sanlaville , Patrick Edery , Pascale Saugier-Veber , Audrey Putoux

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Prenatal diagnosis

Avec: Marion Lesieur-Sebellin , Marianne Till , Philippe Khau Van Kien , Bérénice Herve , Nicolas Bourgon , Céline Dupont , Anne-Claude Tabet , Mathilde Barrois , Aurélie Coussement , Laurence Loeuillet , Eve Mousty , Vuthy Ea , Amal El Assal , Laura Mary , Sylvie Jaillard , Claire Beneteau , Claudine Le Vaillant , Charles Coutton , Françoise Devillard , Carole Goumy , Amélie Delabaere , Sylvia Redon , Yves Laurent , Audrey Lamouroux , Jérôme Massardier , Catherine Turleau , Damien Sanlaville , Vincent Cantagrel , Pascale Sonigo , François Vialard , Laurent J Salomon , Valérie Malan

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

American journal of medical genetics. Part A

Avec: Daphné Lehalle , Ange-Line Bruel , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Yannis Duffourd , Mirna Assoum , Jeanne Amiel , Geneviève Baujat , Bettina Bessieres , Stefania Bigoni , Lydie Burglen , Guillaume Captier , Rodolphe Dard , Patrick Edery , Fernanda Fortunato , David Geneviève , Alice Goldenberg , Laurent Guibaud , Delphine Héron , Muriel Holder-Espinasse , Damien Lederer , Fermina Lopez Grondona , Sarah Grotto , Sandrine Marlin , Gwenaël Nadeau , Arnaud Picard , Massimiliano Rossi , Joëlle Roume , Damien Sanlaville , Pascale Saugier-Veber , Stéphane Triau , Maria Irene Valenzuela Palafoll , Clémence Vanlerberghe , Lionel Van Maldergem , Myriam Vezain , Catherine Vincent-Delorme , Einat Zivi , Julien Thevenon , Pierre Vabres , Christel Thauvin-Robinet , Patrick Callier , Laurence Faivre

Fertility in men with Klinefelter's syndrome.

Annales d'endocrinologie

Avec: Ingrid Plotton , Lucie Renault , Marion Lapoirie , Damien Sanlaville , René Ecochard , Sandrine Giscard d'Estaing , Beatrice Cuzin , Frederique Dijoud , Bruno Salle , Hervé Lejeune

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.

Nature communications

Avec: Robert Schöpflin , Uirá Souto Melo , Hossein Moeinzadeh , David Heller , Verena Laupert , Jakob Hertzberg , Manuel Holtgrewe , Nico Alavi , Marius-Konstantin Klever , Julius Jungnitsch , Emel Comak , Seval Türkmen , Denise Horn , Yannis Duffourd , Laurence Faivre , Patrick Callier , Damien Sanlaville , Orsetta Zuffardi , Romano Tenconi , Nehir Edibe Kurtas , Sabrina Giglio , Bettina Prager , Anna Latos-Bielenska , Ida Vogel , Merete Bugge , Niels Tommerup , Malte Spielmann , Antonio Vitobello , Vera M Kalscheuer , Martin Vingron , Stefan Mundlos

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Clinical genetics

Avec: Julie Masson , Céline Pebrel-Richard , Matthieu Egloff , Mathilde Frétigny , Marion Beaumont , Kevin Uguen , Pierre-Antoine Rollat-Farnier , Flavie Diguet , Isabelle Perthus , Gwenaël Le Gudayer , Damien Haye , Marie-Noëlle Bonnet Dupeyron , Audrey Putoux , Fabienne Raskin-Champion , Marianne Till , Nicolas Chatron , Bérénice Doray , Claire Bardel , Christine Vinciguerra , Damien Sanlaville , Caroline Schluth-Bolard

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

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

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

European journal of medical genetics

Avec: Tania Dery , Nicolas Chatron , Amerh Alqahtani , Michel Pugeat , Marianne Till , Patrick Edery , Damien Sanlaville , Caroline Schluth-Bolard , Marc Nicolino , Gaetan Lesca , Audrey Putoux

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Henri Margot , Guilaine Boursier , Claire Duflos , Elodie Sanchez , Jeanne Amiel , Jean-Christophe Andrau , Stéphanie Arpin , Elise Brischoux-Boucher , Odile Boute , Lydie Burglen , Charlotte Caille , Yline Capri , Patrick Collignon , Solène Conrad , Valérie Cormier-Daire , Geoffroy Delplancq , Klaus Dieterich , Hélène Dollfus , Mélanie Fradin , Laurence Faivre , Helder Fernandes , Christine Francannet , Vincent Gatinois , Marion Gerard , Alice Goldenberg , Jamal Ghoumid , Sarah Grotto , Anne-Marie Guerrot , Agnès Guichet , Bertrand Isidor , Marie-Line Jacquemont , Sophie Julia , Philippe Khau Van Kien , Marine Legendre , K H Le Quan Sang , Bruno Leheup , Stanislas Lyonnet , Virginie Magry , Sylvie Manouvrier , Dominique Martin , Godelieve Morel , Arnold Munnich , Sophie Naudion , Sylvie Odent , Laurence Perrin , Florence Petit , Nicole Philip , Marlène Rio , Julie Robbe , Massimiliano Rossi , Elisabeth Sarrazin , Annick Toutain , Julien Van Gils , Gabriella Vera , Alain Verloes , Sacha Weber , Sandra Whalen , Damien Sanlaville , Didier Lacombe , Nathalie Aladjidi , David Geneviève

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Genetics in medicine : official journal of the American College of Medical Genetics

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.

European journal of medical genetics

Avec: Alice Poisson , Gaetan Lesca , Nicolas Chatron , Emilie Favre , Vincent Cottin , Delphine Gamondes , Damien Sanlaville , Patrick Edery , Sophie Giraud , Caroline Demily , Sophie Dupuis-Girod

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

Alpha Satellite Insertion Close to an Ancestral Centromeric Region.

Molecular biology and evolution

Avec: Giuliana Giannuzzi , Glennis A Logsdon , Nicolas Chatron , Danny E Miller , Julie Reversat , Katherine M Munson , Kendra Hoekzema , Marie-Noëlle Bonnet-Dupeyron , Pierre-Antoine Rollat-Farnier , Carl A Baker , Damien Sanlaville , Evan E Eichler , Caroline Schluth-Bolard , Alexandre Reymond

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

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

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.

European journal of medical genetics

Avec: Julie Masson , Linda Pons , Tiffany Busa , Chantal Missirian , Matthew Lines , Hélène Tevissen , Flavie Diguet , Pierre-Antoine Rollat-Farnier , Gaétan Lesca , Damien Sanlaville , Caroline Schluth-Bolard

Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive.

Human reproduction (Oxford, England)

Avec: Lucie Renault , Elsa Labrune , Sandrine Giscard d'Estaing , Beatrice Cuzin , Marion Lapoirie , Mehdi Benchaib , Jacqueline Lornage , Gaëlle Soignon , André de Souza , Frédérique Dijoud , Eloïse Fraison , Laurence Pral-Chatillon , Agnès Bordes , Damien Sanlaville , Caroline Schluth-Bolard , Bruno Salle , René Ecochard , Hervé Lejeune , Ingrid Plotton

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 , David Genevieve , 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

Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis.

Acta neuropathologica communications

Avec: Hélène Lasolle , Mad-Hélénie Elsensohn , Anne Wierinckx , Eudeline Alix , Clément Bonnefille , Alexandre Vasiljevic , Christine Cortet , Bénédicte Decoudier , Nathalie Sturm , Stephan Gaillard , Amandine Ferrière , Pascal Roy , Emmanuel Jouanneau , Philippe Bertolino , Claire Bardel , Damien Sanlaville , Gérald Raverot

Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives.

European journal of medical genetics

Avec: F Houdayer , O Putois , M L Babonneau , H Chaumet , L Joly , C Juif , C C Michon , S Staraci , E Cretin , S Delanoue , P Charron , A Chassagne , P Edery , E Gautier , A S Lapointe , C Thauvin-Robinet , D Sanlaville , M Gargiulo , L Faivre

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Prenatal diagnosis

Avec: Kamran Moradkhani , Laurence Cuisset , Pierre Boisseau , Olivier Pichon , Marine Lebrun , Houda Hamdi-Rozé , Marie-Laure Maurin , Nicolas Gruchy , Marie-Christine Manca-Pellissier , Perrine Malzac , Frédéric Bilan , Marie-Pierre Audrezet , Pascale Saugier-Veber , Anne-Laure Fauret-Amsellem , Chantal Missirian , Paul Kuentz , Gregory Egea , Agnès Guichet , Isabelle Creveaux , Caroline Janel , Ines Harzallah , Renaud Touraine , Carole Goumy , Nicole Joyé , Jacques Puechberty , Emmanuelle Haquet , Sandra Chantot-Bastaraud , Sébastien Schmitt , Philippe Gosset , Bénédicte Duban-Bedu , Bruno Delobel , Philippe Vago , François Vialard , Denise Molina Gomes , Jean-Pierre Siffroi , Jean-Paul Bonnefont , Jean-Michel Dupont , Philippe Jonveaux , Martine Doco-Fenzy , Damien Sanlaville , Cédric Le Caignec

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.

European journal of human genetics : EJHG

Avec: Cédric Le Caignec , Olivier Pichon , Annaig Briand , Benoît de Courtivron , Christian Bonnard , Pierre Lindenbaum , Richard Redon , Caroline Schluth-Bolard , Flavie Diguet , Pierre-Antoine Rollat-Farnier , Marta Sanchez-Castro , Marie-Laure Vuillaume , Damien Sanlaville , Denis Duboule , André Mégarbané , Annick Toutain

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

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

European journal of human genetics : EJHG

Avec: Aline Chassagne , Aurore Pélissier , Françoise Houdayer , Elodie Cretin , Elodie Gautier , Dominique Salvi , Sarah Kidri , Aurélie Godard , Christel Thauvin-Robinet , Alice Masurel , Daphné Lehalle , Nolwenn Jean-Marçais , Julien Thevenon , Gaetan Lesca , Audrey Putoux , Marie-Pierre Cordier , Sophie Dupuis-Girod , Marianne Till , Yannis Duffourd , Jean-Baptiste Rivière , Lorraine Joly , Christine Juif , Olivier Putois , Pierre Ancet , Anne-Sophie Lapointe , Paulette Morin , Patrick Edery , Massimiliano Rossi , Damien Sanlaville , Sophie Béjean , Christine Peyron , Laurence Faivre

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

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

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

European journal of medical genetics

Avec: Pierre-Henri Roux-Levy , Damien Sanlaville , Bénédicte De Freminville , Renaud Touraine , Alice Masurel , Isabelle Gueneau , Audrey Cotinaud-Ricou , Sophie Chancenotte , Frédérique Debomy , Delphine Minot , Marie Bournez , Isabelle Rousseau , Sandrine Daniel , Elodie Gautier , Didier Lacombe , Emmanuelle Taupiac , Sylvie Odent , Myriam Mikaty , Sylvie Manouvrier , Jamal Ghoumid , David Geneviève , Natacha Lehman , Tiffany Busa , Charles-Patrick Edery , Jenny Cornaton , Jennifer Gallard , Delphine Héron , Coralie Rastel , Christel Thauvin-Robinet , Alain Verloes , Christine Binquet , Laurence Faivre , Catherine Lejeune

Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort.

Science translational medicine

Avec: Raphael Carapito , Richard Li , Julie Helms , Christine Carapito , Sharvari Gujja , Véronique Rolli , Raony Guimaraes , Jose Malagon-Lopez , Perrine Spinnhirny , Alexandre Lederle , Razieh Mohseninia , Aurélie Hirschler , Leslie Muller , Paul Bastard , Adrian Gervais , Qian Zhang , François Danion , Yvon Ruch , Maleka Schenck , Olivier Collange , Thiên-Nga Chamaraux-Tran , Anne Molitor , Angélique Pichot , Alice Bernard , Ouria Tahar , Sabrina Bibi-Triki , Haiguo Wu , Nicodème Paul , Sylvain Mayeur , Annabel Larnicol , Géraldine Laumond , Julia Frappier , Sylvie Schmidt , Antoine Hanauer , Cécile Macquin , Tristan Stemmelen , Michael Simons , Xavier Mariette , Olivier Hermine , Samira Fafi-Kremer , Bernard Goichot , Bernard Drenou , Khaldoun Kuteifan , Julien Pottecher , Paul-Michel Mertes , Shweta Kailasan , M Javad Aman , Elisa Pin , Peter Nilsson , Anne Thomas , Alain Viari , Damien Sanlaville , Francis Schneider , Jean Sibilia , Pierre-Louis Tharaux , Jean-Laurent Casanova , Yves Hansmann , Daniel Lidar , Mirjana Radosavljevic , Jeffrey R Gulcher , Ferhat Meziani , Christiane Moog , Thomas W Chittenden , Seiamak Bahram

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.

Frontiers in genetics

Avec: Katalin Komlosi , Olivier Claris , Sophie Collardeau-Frachon , Julia Kopp , Ingrid Hausser , Juliette Mazereeuw-Hautier , Nathalie Jonca , Andreas D Zimmer , Damien Sanlaville , Judith Fischer

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Clinical genetics

Avec: Roseline Vibert , Cyril Mignot , Boris Keren , Sandra Chantot-Bastaraud , Marie-France Portnoï , Marie-Christine Nouguès , Marie-Laure Moutard , Anne Faudet , Sandra Whalen , Damien Haye , Catherine Garel , Nicolas Chatron , Massimiliano Rossi , Catherine Vincent-Delorme , Odile Boute , Bruno Delobel , Joris Andrieux , Françoise Devillard , Charles Coutton , Jacques Puechberty , Céline Pebrel-Richard , Cindy Colson , Marion Gerard , Chantal Missirian , Sabine Sigaudy , Tiffany Busa , Martine Doco-Fenzy , Valérie Malan , Marlène Rio , Bérénice Doray , Damien Sanlaville , Jean-Pierre Siffroi , Delphine Héron , Solveig Heide

Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6.

Journal of thrombosis and haemostasis : JTH

Avec: Yohann Jourdy , Nicolas Chatron , Mathilde Fretigny , Amy Dericquebourg , Damien Sanlaville , Christine Vinciguerra

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

American journal of medical genetics. Part A

Avec: Guillaume Jedraszak , Florence Jobic , Aline Receveur , Frédéric Bilan , Brigitte Gilbert-Dussardier , Busa Tiffany , Chantal Missirian , Marjolaine Willems , Sylvie Odent , Josette Lucas , Christele Dubourg , Elise Schaefer , Sophie Scheidecker , James Lespinasse , Alice Goldenberg , Anne-Marie Guerrot , Géraldine Joly-Helas , Pascal Chambon , Cédric Le Caignec , Albert David , Charles Coutton , Véronique Satre , Gaëlle Vieville , Florence Amblard , Radu Harbuz , Damien Sanlaville , Marianne Till , Catherine Vincent-Delorme , Cindy Colson , Joris Andrieux , Sophie Naudion , Jérome Toutain , Caroline Rooryck , Bénédicte de Fréminville , Fabienne Prieur , Valérie Cormier Daire , Daniel Amram , Pascale Kleinfinger , Matthias B Schulze , Gisela Raabe-Meyer , Carolina Courage , Johannes Lemke , Eunice G Stefanou , Thomaidis Loretta , Manolakos Emmanouil , Sophia Kitsiou Tzeli , Henryka Sodowska , Jasen Anderson , Adayapalam Nandini , Henri Copin , Loïc Garçon , Thomas Liehr , Gilles Morin

Whole F8 gene sequencing identified pathogenic structural variant in the remaining unsolved patients with severe Haemophilia A.

Journal of thrombosis and haemostasis : JTH

Avec: Yohann Jourdy , Nicolas Chatron , Mathilde Frétigny , Christophe Zawadzki , Anne Lienhart , Natalie Stieltjes , Pierre-Simon Rohrlich , Christel Thauvin-Robinet , Fabienne Volot , Yasmine Ferhat Hamida , Ghania Hariti , Alexandre Leuci , Yesim Dargaud , Damien Sanlaville , Christine Vinciguerra

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

American journal of medical genetics. Part A

Avec: Souad Bensaid , Malika Bendahmane , Sara Loddo , Gemma Poke , Louis Januel , Romain Nicolle , Valérie Malan , Nicolas Chatron , Silvia Ottombrino , Maria Lisa Dentici , Antonio Novelli , Maria Cristina Digilio , Damien Sanlaville

Novel syndromic neurodevelopmental disorder caused by de novo deletion of

medRxiv : the preprint server for health sciences

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

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Clinical genetics

Avec: Alexis Billes , Mathilde Pujalte , Guillaume Jedraszak , Daniel Amsallem , Elise Boudry-Labis , Odile Boute , Sonia Bouquillon , Elise Brischoux-Boucher , Patrick Callier , Charles Coutton , Anne-Laude Avice Denizet , Klaus Dieterich , Paul Kuentz , James Lespinasse , Benoît Mazel , Gilles Morin , Florence Amram , Perrine Pennamen , Marlène Rio , Juliette Piard , Audrey Putoux , Mélanie Rama , Virginie Roze-Guillaumey , Caroline Schluth-Bolard , Marianne Till , Chloé Trouvé , Gaëlle Vieville , Caroline Rooryck , Damien Sanlaville , Nicolas Chatron

Growth charts in Kabuki syndrome 1.

American journal of medical genetics. Part A

Avec: Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , Mario Abaji , Yves Alembick , Eudeline Alix , Jeanne Amiel , Cyril Amouroux , Mouna Barat-Houari , Clarisse Baumann , Adeline Bonnard , Guilaine Boursier , Odile Boute , Lydie Burglen , Tiffany Busa , Marie-Pierre Cordier , Valérie Cormier-Daire , Marie-Ange Delrue , Bérénice Doray , Laurence Faivre , Mélanie Fradin , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Alice Goldenberg , Svetlana Gorokhova , Delphine Héron , Bertrand Isidor , Marie-Line Jacquemont , Aurélia Jacquette , Claire Jeandel , Didier Lacombe , Martine Le Merrer , Kim Hanh Le Quan Sang , Stanislas Lyonnet , Sylvie Manouvrier , Caroline Michot , Anne Moncla , Sébastien Moutton , Sylvie Odent , Anna Pelet , Nicole Philip , Lucile Pinson , Julie Reversat , Joëlle Roume , Elodie Sanchez , Damien Sanlaville , Pierre Sarda , Elise Schaefer , Marianne Till , Isabelle Touitou , Annick Toutain , Marjolaine Willems , Vincent Gatinois , David Geneviève

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

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 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

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Journal of medical genetics

Avec: Aia Elise Jønch , Elise Douard , Clara Moreau , Anke Van Dijck , Marzia Passeggeri , Frank Kooy , Jacques Puechberty , Carolyn Campbell , Damien Sanlaville , Henrietta Lefroy , Sonia Richetin , Aurelie Pain , David Geneviève , Usha Kini , Cédric Le Caignec , James Lespinasse , Anne-Bine Skytte , Bertrand Isidor , Christiane Zweier , Jean-Hubert Caberg , Marie-Ange Delrue , Rikke Steensbjerre Møller , Anders Bojesen , Helle Hjalgrim , Charlotte Brasch-Andersen , Emmanuelle Lemyre , Lilian Bomme Ousager , Sébastien Jacquemont , Auteur inconnu

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

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

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.

Molecular cytogenetics

Avec: Wafa Slimani , Hela Ben Khelifa , Sarra Dimassi , Fatma-Zohra Chioukh , Afef Jelloul , Molka Kammoun , Hanene Hannachi , Sarra Bouslah , Nesrine Jammali , Damien Sanlaville , Ali Saad , Soumaya Mougou-Zerelli

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

Anatomical and functional abnormalities on MRI in kabuki syndrome.

NeuroImage. Clinical

Avec: Jennifer Boisgontier , Jean Marc Tacchella , Hervé Lemaître , Natacha Lehman , Ana Saitovitch , Vincent Gatinois , Guilaine Boursier , Elodie Sanchez , Elza Rechtman , Ludovic Fillon , Stanislas Lyonnet , Kim-Hanh Le Quang Sang , Genevieve Baujat , Marlene Rio , Odile Boute , Laurence Faivre , Elise Schaefer , Damien Sanlaville , Monica Zilbovicius , David Grévent , David Geneviève , Nathalie Boddaert

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

Optical genome mapping enables constitutional chromosomal aberration detection.

American journal of human genetics

Avec: Tuomo Mantere , Kornelia Neveling , Céline Pebrel-Richard , Marion Benoist , Guillaume van der Zande , Ellen Kater-Baats , Imane Baatout , Ronald van Beek , Tony Yammine , Michiel Oorsprong , Faten Hsoumi , Daniel Olde-Weghuis , Wed Majdali , Susan Vermeulen , Marc Pauper , Aziza Lebbar , Marian Stevens-Kroef , Damien Sanlaville , Jean Michel Dupont , Dominique Smeets , Alexander Hoischen , Caroline Schluth-Bolard , Laïla El Khattabi

Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.

BMC psychiatry

Avec: Christophe Gauld , Alice Poisson , Julie Reversat , Elodie Peyroux , Françoise Houdayer-Robert , Massimiliano Rossi , Gaetan Lesca , Damien Sanlaville , Caroline Demily

CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Pauline Garel , Gaetan Lesca , Dorothée Ville , Anne-Lise Poulat , Nicolas Chatron , Damien Sanlaville , Vincent Des Portes , Alexis Arzimanoglou , Laurence Lion-François

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

Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills.

Psychiatric genetics

Avec: Marie-Noëlle Babinet , Nadine Thomas , Linda Pons , Caroline Schluth-Bolard , Damien Sanlaville , Caroline Demily

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Brain : a journal of neurology

Avec: Ralf A Husain , Xinfu Jiao , J Christopher Hennings , Jan Giesecke , Geeta Palsule , Stefanie Beck-Wödl , Dina Osmanović , Kathrine Bjørgo , Asif Mir , Muhammad Ilyas , Saad M Abbasi , Stephanie Efthymiou , Natalia Dominik , Reza Maroofian , Henry Houlden , Julia Rankin , Alistair T Pagnamenta , Marwan Nashabat , Waleed Altwaijri , Majid Alfadhel , Muhammad Umair , Ebtissal Khouj , William Reardon , Ayman W El-Hattab , Mohammed Mekki , Gunnar Houge , Christian Beetz , Peter Bauer , Audrey Putoux , Gaetan Lesca , Damien Sanlaville , Fowzan S Alkuraya , Robert W Taylor , Hans-Joachim Mentzel , Christian A Hübner , Peter Huppke , Ronald P Hart , Tobias B Haack , Megerditch Kiledjian , Ignacio Rubio

Neurocognitive evaluation of children with down syndrome and obstructive sleep apnea syndrome.

Sleep medicine

Avec: Iulia Ioan , Diane Weick , François Sevin , Damien Sanlaville , Bénédicte De Fréminville , Cyril Schweitzer , Mohamed Akkari , Laurianne Coutier , Benjamin Putois , Sabine Plancoulaine , Marine Thieux , Patricia Franco

Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure.

Pediatric nephrology (Berlin, Germany)

Avec: Bruno Ranchin , Valeska Bidault , Franck Zekre , Aurelie DeMul , Damien Sanlaville , Justine Bacchetta

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.

Cancers

Avec: Ahmed Bouras , Souhir Guidara , Mélanie Leone , Adrien Buisson , Tanguy Martin-Denavit , Sophie Dussart , Christine Lasset , Sophie Giraud , Marie-Noëlle Bonnet-Dupeyron , Zine-Eddine Kherraf , Damien Sanlaville , Sandra Fert-Ferrer , Marine Lebrun , Valerie Bonadona , Alain Calender , Nadia Boutry-Kryza

Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency.

The Journal of clinical endocrinology and metabolism

Avec: Anne Pourquet , Jordan Teoli , Aurore Bouty , Lucie Renault , Florence Roucher , Delphine Mallet , Chantal Rigaud , Frédérique Dijoud , Pierre Mouriquand , Pierre-Yves Mure , Damien Sanlaville , René Ecochard , Ingrid Plotton

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

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 , David Genevieve , 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

Réseau de co-auteurs

Nicolas Chatron 31 collaborations

Gaetan Lesca 28 collaborations

Audrey Labalme 23 collaborations

Caroline Schluth-Bolard 21 collaborations

Marianne Till 16 collaborations

Patrick Edery 16 collaborations

Laurence Faivre 15 collaborations

Massimiliano Rossi 12 collaborations

Audrey Putoux 12 collaborations

Pierre-Antoine Rollat-Farnier 11 collaborations

Chantal Missirian 10 collaborations

Bertrand Isidor 9 collaborations

None None 9 collaborations

Linda Pons 8 collaborations

Alexandra Afenjar 8 collaborations

Flavie Diguet 8 collaborations

Charles Coutton 7 collaborations

Jacques Puechberty 7 collaborations

Patrick Callier 7 collaborations

Christel Thauvin-Robinet 7 collaborations

Annick Toutain 7 collaborations

David Geneviève 7 collaborations

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Laurent Guibaud 6 collaborations

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Marlène Rio 5 collaborations

James Lespinasse 5 collaborations

Paul Kuentz 4 collaborations

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François Vialard 4 collaborations

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Jean-Michel Dupont 4 collaborations

Martine Doco-Fenzy 4 collaborations

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Guilaine Boursier 4 collaborations

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Klaus Dieterich 4 collaborations

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Nicole Philip 4 collaborations

David Genevieve 4 collaborations

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Jill A Rosenfeld 4 collaborations

Jean-Pierre Siffroi 4 collaborations

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Brigitte Gilbert-Dussardier 4 collaborations

Heather C Mefford 3 collaborations

Florence Petit 3 collaborations

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Nicolas Gruchy 3 collaborations

D Sanlaville 3 collaborations

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A Chassagne 2 collaborations

O Putois 2 collaborations

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A S Lapointe 2 collaborations

L Joly 2 collaborations

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