Catherine Vincent-Delorme

Affiliations
  • Department of Clinical Genetics, CHU Lille, Lille, France.

Publications (34)

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.

Pigment cell & melanoma research
Avec: Perrine Pennamen , Angèle Tingaud-Sequeira , Vincent Michaud , Fanny Morice-Picard , Claudio Plaisant , Fabienne Giuliano , Saba Azarnoush , Yline Capri , Carolina Marçon , Didier Lacombe , Eulalie Lasseaux , Benoît Arveiler

Filamin A Mutations: A New Cause of Unexplained Emphysema in Adults?

Chest
Avec: Victor Valentin , Jean-François Bervar , Thomas Smol , Lidwine Wemeau , Martine Remy , Olivier Le Rouzic , Cécile Chenivesse

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Clinical genetics
Avec: Aurore Garde , Jenny Cornaton , Arthur Sorlin , Sébastien Moutton , Claire Nicolas , Christine Juif , David Geneviève , Laurence Perrin , Philippe Khau-Van-Kien , Thomas Smol , Bertrand Isidor , Benjamin Cogné , Alexandra Afenjar , Boris Keren , Christine Coubes , Fabienne Prieur , Annick Toutain , Yann Trousselet , Solène Bourgouin , Coralie Gonin-Olympiade , Kim Giraudat , Amélie Piton , Bénédicte Gérard , Sylvie Odent , Fanny Tessier , Lola Lemasson , Solveig Heide , Anne-Claire Gelineau , Catherine Sarret , Anne Miret , Elise Schaefer , Juliette Piard , Rémi Mathevet , Marion Boucon , Ange-Line Bruel , Frederic Tran Mau-Them , Martin Chevarin , Antonio Vitobello , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Clinical genetics
Avec: Laurence Faivre , Jean-Charles Crépin , Manon Réda , Sophie Nambot , Virginie Carmignac , Caroline Abadie , Tristan Mirault , Cécile Faure-Conter , Juliette Mazereeuw-Hautier , Aude Maza , Eve Puzenat , Marie-Agnès Collonge-Rame , Anne-Claire Bursztejn , Christophe Philippe , Christel Thauvin-Robinet , Martin Chevarin , Claire Abasq-Thomas , Jeanne Amiel , Stéphanie Arpin , Sébastien Barbarot , Geneviève Baujat , Didier Bessis , Emmanuelle Bourrat , Odile Boute , Nicolas Chassaing , Christine Coubes , Bénédicte Demeer , Patrick Edery , Salima El Chehadeh , Alice Goldenberg , Smail Hadj-Rabia , Damien Haye , Bertrand Isidor , Marie-Line Jacquemont , Philippe Khau Van Kien , Didier Lacombe , Daphné Lehalle , Laetitia Lambert , Ludovic Martin , Annabel Maruani , Fanny Morice-Picard , Florence Petit , Alice Phan , Lucile Pinson , Massimiliano Rossi , Renaud Touraine , Clémence Vanlerberghe , Marie Vincent , Sandra Whalen , Marjolaine Willems , Nathalie Marle , Virginie Verkarre , Christine Devalland , Mojgan Devouassoux-Shisheboran , Marine Abad , Nathalie Rioux-Leclercq , Bertille Bonniaud , Yannis Duffourd , Jehanne Martel , Christine Binquet , Paul Kuentz , Pierre Vabres

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Pleuntje J van der Sluijs , Sandra Jansen , Samantha A Vergano , Miho Adachi-Fukuda , Yasemin Alanay , Adila AlKindy , Anwar Baban , Allan Bayat , Stefanie Beck-Wödl , Katherine Berry , Emilia K Bijlsma , Levinus A Bok , Alwin F J Brouwer , Ineke van der Burgt , Philippe M Campeau , Natalie Canham , Krystyna Chrzanowska , Yoyo W Y Chu , Brain H Y Chung , Karin Dahan , Marjan De Rademaeker , Anne Destree , Tracy Dudding-Byth , Rachel Earl , Nursel Elcioglu , Ellen R Elias , Christina Fagerberg , Alice Gardham , Blanca Gener , Erica H Gerkes , Ute Grasshoff , Arie van Haeringen , Karin R Heitink , Johanna C Herkert , Nicolette S den Hollander , Denise Horn , David Hunt , Sarina G Kant , Mitsuhiro Kato , Hülya Kayserili , Rogier Kersseboom , Esra Kilic , Malgorzata Krajewska-Walasek , Kylin Lammers , Lone W Laulund , Damien Lederer , Melissa Lees , Vanesa López-González , Saskia Maas , Grazia M S Mancini , Carlo Marcelis , Francisco Martinez , Isabelle Maystadt , Marianne McGuire , Shane McKee , Sarju Mehta , Kay Metcalfe , Jeff Milunsky , Seiji Mizuno , John B Moeschler , Christian Netzer , Charlotte W Ockeloen , Barbara Oehl-Jaschkowitz , Nobuhiko Okamoto , Sharon N M Olminkhof , Carmen Orellana , Laurent Pasquier , Caroline Pottinger , Vera Riehmer , Stephen P Robertson , Maian Roifman , Caroline Rooryck , Fabienne G Ropers , Monica Rosello , Claudia A L Ruivenkamp , Mahmut S Sagiroglu , Suzanne C E H Sallevelt , Amparo Sanchis Calvo , Pelin O Simsek-Kiper , Gabriela Soares , Lucia Solaeche , Fatma Mujgan Sonmez , Miranda Splitt , Duco Steenbeek , Alexander P A Stegmann , Constance T R M Stumpel , Saori Tanabe , Eyyup Uctepe , G Eda Utine , Hermine E Veenstra-Knol , Sunita Venkateswaran , Catheline Vilain , Anneke T Vulto-van Silfhout , Patricia Wheeler , Golder N Wilson , Louise C Wilson , Bernd Wollnik , Tomoki Kosho , Dagmar Wieczorek , Evan Eichler , Rolph Pfundt , Bert B A de Vries , Jill Clayton-Smith , Gijs W E Santen

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Pleuntje J van der Sluijs , Sandra Jansen , Samantha A Vergano , Miho Adachi-Fukuda , Yasemin Alanay , Adila AlKindy , Anwar Baban , Allan Bayat , Stefanie Beck-Wödl , Katherine Berry , Emilia K Bijlsma , Levinus A Bok , Alwin F J Brouwer , Ineke van der Burgt , Philippe M Campeau , Natalie Canham , Krystyna Chrzanowska , Yoyo W Y Chu , Brain H Y Chung , Karin Dahan , Marjan De Rademaeker , Anne Destree , Tracy Dudding-Byth , Rachel Earl , Nursel Elcioglu , Ellen R Elias , Christina Fagerberg , Alice Gardham , Blanca Gener , Erica H Gerkes , Ute Grasshoff , Arie van Haeringen , Karin R Heitink , Johanna C Herkert , Nicolette S den Hollander , Denise Horn , David Hunt , Sarina G Kant , Mitsuhiro Kato , Hülya Kayserili , Rogier Kersseboom , Esra Kilic , Malgorzata Krajewska-Walasek , Kylin Lammers , Lone W Laulund , Damien Lederer , Melissa Lees , Vanesa López-González , Saskia Maas , Grazia M S Mancini , Carlo Marcelis , Francisco Martinez , Isabelle Maystadt , Marianne McGuire , Shane McKee , Sarju Mehta , Kay Metcalfe , Jeff Milunsky , Seiji Mizuno , John B Moeschler , Christian Netzer , Charlotte W Ockeloen , Barbara Oehl-Jaschkowitz , Nobuhiko Okamoto , Sharon N M Olminkhof , Carmen Orellana , Laurent Pasquier , Caroline Pottinger , Vera Riehmer , Stephen P Robertson , Maian Roifman , Caroline Rooryck , Fabienne G Ropers , Monica Rosello , Claudia A L Ruivenkamp , Mahmut S Sagiroglu , Suzanne C E H Sallevelt , Amparo Sanchis Calvo , Pelin O Simsek-Kiper , Gabriela Soares , Lucia Solaeche , Fatma Mujgan Sonmez , Miranda Splitt , Duco Steenbeek , Alexander P A Stegmann , Constance T R M Stumpel , Saori Tanabe , Eyyup Uctepe , G Eda Utine , Hermine E Veenstra-Knol , Sunita Venkateswaran , Catheline Vilain , Anneke T Vulto-van Silfhout , Patricia Wheeler , Golder N Wilson , Louise C Wilson , Bernd Wollnik , Tomoki Kosho , Dagmar Wieczorek , Evan Eichler , Rolph Pfundt , Bert B A de Vries , Jill Clayton-Smith , Gijs W E Santen

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.

Prenatal diagnosis
Avec: Thibault Coste , Morgane Stichelbout , Louise Devisme , Antoinette Gelot , Igor Deryabin , Fanny Pelluard , Chaker Aloui , Anne-Louise Leutenegger , Jean-Marie Jouannic , Delphine Héron , Douglas B Gould , Elisabeth Tournier-Lasserve

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Pathogenic

Brain communications
Avec: Neringa Jurkute , Michele Bertacchi , Gavin Arno , Chiara Tocco , Ungsoo Samuel Kim , Adam M Kruszewski , Robert A Avery , Emma C Bedoukian , Jinu Han , Sung Jun Ahn , Nikolas Pontikos , James Acheson , Indran Davagnanam , Richard Bowman , Marios Kaliakatsos , Alice Gardham , Emma Wakeling , Ngozi Oluonye , Maddy Ashwin Reddy , Elaine Clark , Elisabeth Rosser , Patrizia Amati-Bonneau , Majida Charif , Guy Lenaers , Isabelle Meunier , Sabine Defoort , Anthony G Robson , Graham E Holder , Luc Jeanjean , Antonio Martinez-Monseny , Mariona Vidal-Santacana , Chloé Dominici , Cedric Gaggioli , Nadia Giordano , Matteo Caleo , Grant T Liu , Auteur inconnu , Andrew R Webster , Michèle Studer , Patrick Yu-Wai-Man

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 , 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

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Pediatric neurology
Avec: Seth A Stafki , Johnnie Turner , Hannah R Littel , Christine C Bruels , Don Truong , Ursula Knirsch , Georg M Stettner , Urs Graf , Wolfgang Berger , Maria Kinali , Heinz Jungbluth , Christina A Pacak , Jayne Hughes , Amytice Mirchi , Alexa Derksen , Arjan F Theil , Geneviève Bernard , David Ellis , Hiva Fassihi , Alan R Lehmann , Vincent Laugel , Shehla Mohammed , Peter B Kang

Loss-of-function variants in

medRxiv : the preprint server for health sciences
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal Morel , Jordan Lerner- Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Sander Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

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 , 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

Fraser syndrome without cryptophthalmos: Two cases.

European journal of medical genetics
Avec: S Boussion , S Lyonnet , B Van Der Zwaag , M J Vogel , T Smol , A Mezel , S Manouvrier-Hanu , C Vincent-Delorme , C Vanlerberghe

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Maria J Nabais Sá , Hanka Venselaar , Laurens Wiel , Aurélien Trimouille , Eulalie Lasseaux , Sophie Naudion , Didier Lacombe , Amélie Piton , Christiane Zweier , André Reis , Regina Trollmann , Anna Ruiz , Elisabeth Gabau , Annalisa Vetro , Renzo Guerrini , Somayeh Bakhtiari , Michael C Kruer , David J Amor , Monica S Cooper , Emilia K Bijlsma , Tahsin Stefan Barakat , Marieke F van Dooren , Marjon van Slegtenhorst , Rolph Pfundt , Christian Gilissen , Michèl A Willemsen , Bert B A de Vries , Arjan P M de Brouwer , David A Koolen

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ghayda M Mirzaa , Jessica X Chong , Amélie Piton , Bernt Popp , Kimberly Foss , Hui Guo , Ricardo Harripaul , Kun Xia , Joshua Scheck , Kimberly A Aldinger , Samin A Sajan , Sha Tang , Dominique Bonneau , Anita Beck , Janson White , Sonal Mahida , Jacqueline Harris , Constance Smith-Hicks , Juliane Hoyer , Christiane Zweier , André Reis , Christian T Thiel , Rami Abou Jamra , Natasha Zeid , Amy Yang , Laura S Farach , Laurence Walsh , Katelyn Payne , Luis Rohena , Milen Velinov , Alban Ziegler , Elise Schaefer , Vincent Gatinois , David Geneviève , Marleen E H Simon , Jennefer Kohler , Joshua Rotenberg , Patricia Wheeler , Austin Larson , Michelle E Ernst , Cigdem I Akman , Rachel Westman , Patricia Blanchet , Lori-Anne Schillaci , Karen W Gripp , Francesca Mattioli , Gwenaël Le Guyader , Bénédicte Gerard , Michèle Mathieu-Dramard , Gilles Morin , Roksana Sasanfar , Muhammad Ayub , Nasim Vasli , Sandra Yang , Rick Person , Kristin G Monaghan , Deborah A Nickerson , Ellen van Binsbergen , Gregory M Enns , Annika M Dries , Leah J Rowe , Anne C H Tsai , Shayna Svihovec , Jennifer Friedman , Zehra Agha , Raheel Qamar , Lance H Rodan , Julian Martinez-Agosto , Charlotte W Ockeloen , Marie Vincent , William James Sunderland , Jonathan A Bernstein , Auteur inconnu , Evan E Eichler , John B Vincent , Auteur inconnu , Michael J Bamshad

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Virginie Carmignac , Cyril Mignot , Emmanuelle Blanchard , Paul Kuentz , Marie-Hélène Aubriot-Lorton , Victoria E R Parker , Arthur Sorlin , Sylvie Fraitag , Jean-Benoît Courcet , Yannis Duffourd , Diana Rodriguez , Rachel G Knox , Satyamaanasa Polubothu , Anne Boland , Robert Olaso , Marc Delepine , Véronique Darmency , Melissa Riachi , Chloé Quelin , Paul Rollier , Louise Goujon , Sarah Grotto , Yline Capri , Marie-Line Jacquemont , Sylvie Odent , Daniel Amram , Martin Chevarin , Benoît Catteau , Laurent Guibaud , Alexis Arzimanoglou , Malika Keddar , Catherine Sarret , Patrick Callier , Didier Bessis , David Geneviève , Jean-François Deleuze , Christel Thauvin , Robert K Semple , Christophe Philippe , Jean-Baptiste Rivière , Veronica A Kinsler , Laurence Faivre , Pierre Vabres

Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!

Clinica chimica acta; international journal of clinical chemistry
Avec: Alexandre Raynor , Anne-Sophie Alaix , Sophie Cholet , Thierry Dupré , Sandrine Vuillaumier-Barrot , François Fenaille , Claude Besmond , Arnaud Bruneel

Expanding the KIF4A-associated phenotype.

American journal of medical genetics. Part A
Avec: Silvia Kalantari , Colleen Carlston , Norah Alsaleh , Ghada M H Abdel-Salam , Fowzan Alkuraya , Mitsuhiro Kato , Naomichi Matsumoto , Satoko Miyatake , Tatsuya Yamamoto , Lucas Fares-Taie , Jean-Michel Rozet , Nicolas Chassaing , Anjeung Kang-Bellin , Kirsty McWalter , Caleb Bupp , Emily Palen , Monisa D Wagner , Marcello Niceta , Claudia Cesario , Roberta Milone , Julie Kaplan , Erin Wadman , William B Dobyns , Isabel Filges

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Clinical genetics
Avec: Bertrand Chesneau , Marion Aubert-Mucca , Félix Fremont , Jacmine Pechmeja , Vincent Soler , Bertrand Isidor , Mathilde Nizon , Hélène Dollfus , Josseline Kaplan , Lucas Fares-Taie , Jean-Michel Rozet , Tiffany Busa , Didier Lacombe , Sophie Naudion , Jeanne Amiel , Marlène Rio , Tania Attie-Bitach , Cécile Lesage , Dominique Thouvenin , Sylvie Odent , Godelieve Morel , Odile Boute , Clémence Vanlerberghe , Anne Dieux , Simon Boussion , Laurence Faivre , Lucile Pinson , Fanny Laffargue , Gwenaël Le Guyader , Guylène Le Meur , Fabienne Prieur , Victor Lambert , Beatrice Laudier , Edouard Cottereau , Carmen Ayuso , Marta Corton-Pérez , Laurence Bouneau , Cédric Le Caignec , Véronique Gaston , Claire Jeanton-Scaramouche , Delphine Dupin-Deguine , Patrick Calvas , Nicolas Chassaing , Julie Plaisancié

Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children.

Frontiers in psychology
Avec: Amélie Marie , Laëtitia Clabaut , Marjolaine Corbeil , Clémence Vanlerberghe , Barbara Le Driant

Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.

Prenatal diagnosis
Avec: Vivien Cuvelier , Detlef Trost , Morgane Stichelbout , Caroline Michot , Valérie Cormier-Daire , Nathalie Boutry , Elise Machet ,

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

Nature communications
Avec: Fabiola Ceroni , Munevver B Cicekdal , Richard Holt , Elena Sorokina , Nicolas Chassaing , Samuel Clokie , Thomas Naert , Lidiya V Talbot , Sanaa Muheisen , Dorine A Bax , Yesim Kesim , Emma C Kivuva , Soeren S Lienkamp , Julie Plaisancié , Elfride De Baere , Patrick Calvas , Kris Vleminckx , Elena V Semina , Nicola K Ragge

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.

Archives of disease in childhood. Fetal and neonatal edition
Avec: Laurélia Jourdan-Voyen , Renaud Touraine , Jean-Pierre Masutti , Tiffany Busa , Lelia Dreyfus , Arnaud Molin , Baptiste Savey , Abraham Mounzer , Ziad Assaf , Veronique Atallah , Vanessa da Cruz , Dominique Gaillard , Elise Leroy-Terquem , Jean-Baptiste Mouton , Jamal Ghoumid , Jean-Charles Picaud , Frederique Dijoud , Sonia Bouquillon , Cédric Baumann , Laetitia Lambert

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

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Victoria E R Parker , Kim M Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal L Oden , Leena De Silva , Julie C Sapp , Katrina Andrews , Marc Bardou , Kong Y Chen , Thomas N Darling , Elodie Gautier , Barry R Goldspiel , Smail Hadj-Rabia , Julie Harris , Georgios Kounidas , Parag Kumar , Marjorie J Lindhurst , Romaric Loffroy , Ludovic Martin , Alice Phan , Kristina I Rother , Brigitte C Widemann , Pamela L Wolters , Christine Coubes , Lucile Pinson , Marjolaine Willems , Auteur inconnu , Pierre Vabres , Robert K Semple , Leslie G Biesecker

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

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

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal of medical genetics
Avec: Annie Laquerriere , Dana Jaber , Emanuela Abiusi , Jérome Maluenda , Dan Mejlachowicz , Alexandre Vivanti , Klaus Dieterich , Radka Stoeva , Loic Quevarec , Flora Nolent , Valerie Biancalana , Philippe Latour , Damien Sternberg , Yline Capri , Alain Verloes , Bettina Bessieres , Laurence Loeuillet , Tania Attie-Bitach , Jelena Martinovic , Sophie Blesson , Florence Petit , Claire Beneteau , Sandra Whalen , Florent Marguet , Jerome Bouligand , Delphine Héron , Géraldine Viot , Jeanne Amiel , Daniel Amram , Céline Bellesme , Martine Bucourt , Laurence Faivre , Pierre-Simon Jouk , Suonavy Khung , Sabine Sigaudy , Anne-Lise Delezoide , Alice Goldenberg , Marie-Line Jacquemont , Laetitia Lambert , Valérie Layet , Stanislas Lyonnet , Arnold Munnich , Lionel Van Maldergem , Juliette Piard , Fabien Guimiot , Pierre Landrieu , Pascaline Letard , Fanny Pelluard , Laurence Perrin , Marie-Hélène Saint-Frison , Haluk Topaloglu , Laetitia Trestard , Helge Amthor , Christine Barnerias , Alexandra Benachi , Eric Bieth , Elise Boucher , Valerie Cormier-Daire , Andrée Delahaye-Duriez , Isabelle Desguerre , Bruno Eymard , Christine Francannet , Sarah Grotto , Didier Lacombe , Fanny Laffargue , Marine Legendre , Dominique Martin-Coignard , André Mégarbané , Sandra Mercier , Mathilde Nizon , Luc Rigonnot , Fabienne Prieur , Chloé Quélin , Hanitra Ranjatoelina-Randrianaivo , Nicoletta Resta , Annick Toutain , Helene Verhelst , Marie Vincent , Estelle Colin , Catherine Fallet-Bianco , Michèle Granier , Romulus Grigorescu , Julien Saada , Marie Gonzales , Anne Guiochon-Mantel , Jean-Louis Bessereau , Marcel Tawk , Ivo Gut , Cyril Gitiaux , Judith Melki

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 , Einat Zivi , Julien Thevenon , Pierre Vabres , Christel Thauvin-Robinet , Patrick Callier , Laurence Faivre

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

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

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

European journal of human genetics : EJHG
Avec: Bertrand Chesneau , Véronique Ivashchenko , Christophe Habib , Véronique Gaston , Fréderic Escudié , Godelieve Morel , Yline Capri , Patrick Calvas , Nicolas Chassaing , Julie Plaisancié

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Véronique Caron , Nicolas Chassaing , Nicola Ragge , Felix Boschann , Angelina My-Hoa Ngu , Elisabeth Meloche , Sarah Chorfi , Saquib A Lakhani , Weizhen Ji , Laurie Steiner , Julien Marcadier , Philip R Jansen , Laura A van de Pol , Johanna M van Hagen , Alvaro Serrano Russi , Gwenaël Le Guyader , Magnus Nordenskjöld , Ann Nordgren , Britt-Marie Anderlid , Julie Plaisancié , Corinna Stoltenburg , Denise Horn , Anne Drenckhahn , Fadi F Hamdan , Mathilde Lefebvre , Tania Attie-Bitach , Peggy Forey , Vasily Smirnov , Françoise Ernould , Marie-Line Jacquemont , Sarah Grotto , Alberto Alcantud , Alicia Coret , Rosario Ferrer-Avargues , Siddharth Srivastava , Shelby Romoser , Nicole Safina , Dimah Saade , James R Lupski , Daniel G Calame , David Geneviève , Nicolas Chatron , Caroline Schluth-Bolard , Kenneth A Myers , William B Dobyns , Patrick Calvas , Auteur inconnu , Caroline Salmon , Richard Holt , Frances Elmslie , Marc Allaire , Daniil M Prigozhin , André Tremblay , Jacques L Michaud

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Human genetics
Avec: Ariane Schmetz , Hermann-Josef Lüdecke , Harald Surowy , Sugirtahn Sivalingam , Ange-Line Bruel , Roseline Caumes , Perrine Charles , Nicolas Chatron , Krystyna Chrzanowska , Marta Codina-Solà , Cindy Colson , Ivon Cuscó , Anne-Sophie Denommé-Pichon , Patrick Edery , Laurence Faivre , Andrew Green , Solveig Heide , Tzung-Chien Hsieh , Alexander Hustinx , Lotte Kleinendorst , Cordula Knopp , Florian Kraft , Peter M Krawitz , Amaia Lasa-Aranzasti , Gaetan Lesca , Vanesa López-González , Julien Maraval , Cyril Mignot , Teresa Neuhann , Christian Netzer , Barbara Oehl-Jaschkowitz , Florence Petit , Christophe Philippe , Renata Posmyk , Audrey Putoux , André Reis , María José Sánchez-Soler , Julia Suh , Tinatin Tkemaladze , Frédéric Tran Mau Them , André Travessa , Laura Trujillano , Irene Valenzuela , Mieke M van Haelst , Georgia Vasileiou , Mona Walther , Pablo Verde , Nuria C Bramswig , Dagmar Wieczorek

Novel Genetic and Phenotypic Expansion in Ameliorated

International journal of molecular sciences
Avec: Emily Baum , Wenming Huang , Perrine Brunelle , Adam Antebi , Hormos Salimi Dafsari

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Laurence Faivre 11 collaborations
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