Paul Kuentz

Affiliations

UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.

Publications (43)

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Journal of medical genetics

Avec: Mathilde Lefebvre , Ange-Line Bruel , Emilie Tisserant , Nicolas Bourgon , Yannis Duffourd , Sophie Collardeau-Frachon , Tania Attie-Bitach , Mirna Assoum , Elise Schaefer , Salima El Chehadeh , Maria Cristina Antal , Valérie Kremer , Françoise Girard-Lemaitre , Jean-Louis Mandel , Daphne Lehalle , Sophie Nambot , Nolwenn Jean-Marçais , Nada Houcinat , Sébastien Moutton , Nathalie Marle , Laetita Lambert , Philippe Jonveaux , Bernard Foliguet , Jean-Pierre Mazutti , Dominique Gaillard , Elisabeth Alanio , Celine Poirisier , Anne-Sophie Lebre , Marion Aubert-Lenoir , Francine Arbez-Gindre , Sylvie Odent , Chloé Quélin , Philippe Loget , Melanie Fradin , Marjolaine Willems , Nicole Bigi , Marie-José Perez , Sophie Blesson , Christine Francannet , Anne-Marie Beaufrere , Sophie Patrier-Sallebert , Anne-Marie Guerrot , Alice Goldenberg , Anne-Claire Brehin , James Lespinasse , Renaud Touraine , Yline Capri , Marie-Hélène Saint-Frison , Nicole Laurent , Christophe Philippe , Frederic Tran Mau-Them , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet , Antonio Vitobello

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

European journal of human genetics : EJHG

Avec: Aurélien Juven , Sophie Nambot , Amélie Piton , Nolwenn Jean-Marçais , Alice Masurel , Patrick Callier , Nathalie Marle , Anne-Laure Mosca-Boidron , Christophe Philippe , Martin Chevarin , Yannis Duffourd , Elodie Gautier , Arnold Munnich , Marlène Rio , Sophie Rondeau , Salima El Chehadeh , Élise Schaefer , Bénédicte Gérard , Sonia Bouquillon , Catherine Vincent Delorme , Christine Francannet , Fanny Laffargue , Laetitia Gouas , Bertrand Isidor , Marie Vincent , Sophie Blesson , Fabienne Giuliano , Olivier Pichon , Cédric Le Caignec , Hubert Journel , Laurence Perrin-Sabourin , Jennifer Fabre-Teste , Dominique Martin , Gaelle Vieville , Klaus Dieterich , Didier Lacombe , Anne-Sophie Denommé-Pichon , Christel Thauvin-Robinet , Laurence Faivre

Post-Essential Thrombocythemia Myelofibrosis and Multiple Isodicentric Y Chromosomes: A Unique Case among a Rare Association.

Cytogenetic and genome research

Avec: Eric Dahlen , Sinziana I Sarghi , Florian Renosi , Christophe Ferrand , Marie-Agnes Collonge-Rame ,

Severe gynaecological involvement in Proteus Syndrome.

European journal of medical genetics

Avec: Maella Severino-Freire , Aude Maza , Yannis Duffourd , Laurence Faivre , Edith Brazet , Nicolas Chassaing , Eliane Mery-Lemarche , Pierre Vabres , Juliette Mazereeuw-Hautier

Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.

Journal of the European Academy of Dermatology and Venereology : JEADV

Avec: M Theiler , L Weibel , S Christen-Zaech , V Carmignac , A Sorlin , K Neuhaus , M Chevarin , C Thauvin-Robinet , C Philippe , L Faivre , P Vabres , P Kuentz

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 , 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 , Catherine Vincent-Delorme , 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

Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

Andrology

Avec: Céline Capron , Louis Januel , Gaëlle Vieville , Sylvie Jaillard , Gaëlle Salaun , Gwenaël Nadeau , Patrice Clement , Marie Pierre Brechard , Bérénice Herve , Jean Michel Dupont , Nicolas Gruchy , Pascal Chambon , Fatma Abdelhedi , Eric Dahlen , Philippe Vago , Radu Harbuz , Ingrid Plotton , Charles Coutton , Marc-Antoine Belaud-Rotureau , Caroline Schluth-Bolard , François Vialard

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

Communications biology

Avec: Amama Ghaffar , Tehmeena Akhter , Petter Strømme , Doriana Misceo , Amjad Khan , Eirik Frengen , Muhammad Umair , Bertrand Isidor , Benjamin Cogné , Asma A Khan , Ange-Line Bruel , Arthur Sorlin , Christine Chiaverini , A Micheil Innes , Michael Zech , Marek Baláž , Petra Havrankova , Robert Jech , Zubair M Ahmed , Sheikh Riazuddin , Saima Riazuddin

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Avec: Pierre Vabres , Arthur Sorlin , Stanislav S Kholmanskikh , Bénédicte Demeer , Judith St-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac , Philippine Garret , Didier Bessis , Odile Boute , Alain Bron , Guillaume Captier , Esther Carmi , Bernard Devauchelle , David Geneviève , Catherine Gondry-Jouet , Laurent Guibaud , Arnaud Lafon , Michèle Mathieu-Dramard , Julien Thevenon , William B Dobyns , Geneviève Bernard , Satyamaanasa Polubothu , Francesca Faravelli , Veronica A Kinsler , Christel Thauvin , Laurence Faivre , M Elizabeth Ross , Jean-Baptiste Rivière

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

Neuron

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

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 , 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

Journal of medical genetics

Avec: Daphné Lehalle , Pierre Vabres , Arthur Sorlin , Tatjana Bierhals , Magali Avila , Virginie Carmignac , Martin Chevarin , Erin Torti , Yuichi Abe , Tobias Bartolomaeus , Jill Clayton-Smith , Benjamin Cogné , Ivon Cusco , Laurence Duplomb , Eveline De Bont , Yannis Duffourd , Floor Duijkers , Orly Elpeleg , Aviva Fattal , David Geneviève , Maria J Guillen Sacoto , Anne Guimier , David J Harris , Maja Hempel , Bertrand Isidor , Thibaud Jouan , Eriko Koshimizu , Klaske Lichtenbelt , Valerie Loik Ramey , Miriam Maik , Sakoto Miyakate , Yoshiko Murakami , Laurent Pasquier , Helio Pedro , Laurie Simone , Krista Sondergaard-Schatz , Judith St-Onge , Julien Thevenon , Irene Valenzuela , Rami Abou Jamra , Koen van Gassen , Mieke M van Haelst , Silvana van Koningsbruggen , Edgard Verdura , Christa Whelan Habela , Pia Zacher , Jean-Baptiste Rivière , Christel Thauvin-Robinet , Joerg Betschinger , Laurence Faivre

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

Clinical genetics

Avec: Sofia Douzgou , Myfanwy Rawson , Eulalia Baselga , Moise Danielpour , Laurence Faivre , Alon Kashanian , Kim M Keppler-Noreuil , Grazia M S Mancini , Marie-Cecile Maniere , Victor Martinez-Glez , Victoria E Parker , Robert K Semple , Siddharth Srivastava , Pierre Vabres , Marie-Claire Y De Wit , John M Graham , Jill Clayton-Smith , Ghayda M Mirzaa , Leslie G Biesecker

A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.

Human mutation

Avec: Jean-Marie Ravel , Natacha Dreumont , Pauline Mosca , Desiree E C Smith , Marisa I Mendes , Arnaud Wiedemann , David Coelho , Emmanuelle Schmitt , Jean-Baptiste Rivière , Frédéric Tran Mau-Them , Julien Thevenon , Marc Polivka , Sabine A Fuchs , Gautam Kok , Christel Thauvin-Robinet , Jean-Louis Guéant , Gajja S Salomons , Laurence Faivre , François Feillet

The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report.

Neuropediatrics

Avec: Geoffroy Delplancq , Mohamed Abdelatif Boukebir , Daniel Amsallem , Laurent Thines , Virginie Rozé , Eric Dahlen , Lionel Van Maldergem ,

Incidence and characteristics of COVID-19 in French professional football players during the 2020-2021 season.

Infectious diseases now

Avec: David Luque-Paz , Emmanuel Orhant , Fabrice Michel , Philippe Kuentz , Jean-François Chapellier , Eric Rolland , Christian Rabaud , Pierre Tattevin

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Oncotarget

Avec: Martin Chevarin , Diana Alcantara , Juliette Albuisson , Marie-Agnès Collonge-Rame , Céline Populaire , Zohair Selmani , Amandine Baurand , Caroline Sawka , Geoffrey Bertolone , Patrick Callier , Yannis Duffourd , Philippe Jonveaux , Yves-Jean Bignon , Isabelle Coupier , François Cornelis , Christophe Cordier , Monique Mozelle-Nivoix , Jean-Baptiste Rivière , Christel Thauvin , Romain Boidot , François Ghiringhelli , Marc O'Driscoll , Laurence Faivre , Sophie Nambot

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 , 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

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 , 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

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

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

Avec: Thomas Besnard , Natacha Sloboda , Alice Goldenberg , Sébastien Küry , Benjamin Cogné , Flora Breheret , Eva Trochu , Solène Conrad , Marie Vincent , Wallid Deb , Xavier Balguerie , Sébastien Barbarot , Geneviève Baujat , Tawfeg Ben-Omran , Anne-Claire Bursztejn , Virginie Carmignac , Alexandre N Datta , Aline Delignières , Laurence Faivre , Betty Gardie , Jean-Louis Guéant , Marion Lenglet , Marie-Cécile Nassogne , Vincent Ramaekers , Rhonda E Schnur , Yue Si , Erin Torti , Julien Thevenon , Pierre Vabres , Lionel Van Maldergem , Dorothea Wand , Arnaud Wiedemann , Bertrand Cariou , Richard Redon , Antonin Lamazière , Stéphane Bézieau , Francois Feillet , Bertrand Isidor

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Cell stem cell

Avec: Florian Villegas , Daphné Lehalle , Daniela Mayer , Melanie Rittirsch , Michael B Stadler , Marietta Zinner , Daniel Olivieri , Pierre Vabres , Laurence Duplomb-Jego , Eveline S J M De Bont , Yannis Duffourd , Floor Duijkers , Magali Avila , David Geneviève , Nada Houcinat , Thibaud Jouan , Klaske D Lichtenbelt , Christel Thauvin-Robinet , Judith St-Onge , Julien Thevenon , Koen L I van Gassen , Mieke van Haelst , Silvana van Koningsbruggen , Daniel Hess , Sebastien A Smallwood , Jean-Baptiste Rivière , Laurence Faivre , Joerg Betschinger

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.

Brain sciences

Avec: Slavica Trajkova , Eleonora Di Gregorio , Giovanni Battista Ferrero , Diana Carli , Lisa Pavinato , Geoffroy Delplancq , Alfredo Brusco

Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.

Human mutation

Avec: Leïla Ghesh , Thomas Besnard , Mathilde Nizon , Eva Trochu , Gaëlle Landeau-Trottier , Flora Breheret , Christel Thauvin-Robinet , Ange-Line Bruel , Christine Coubes , Laurence Cuisset , Cyril Mignot , Boris Keren , Stéphane Bézieau , Benjamin Cogné

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

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

Avec: Jérémie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria Del Mar Muniz Moreno , Imene Boujelbene , Nathalie Drouot , Loréline Genschik , Elise Schaefer , Mathilde Nizon , Bénédicte Gerard , Marc Abramowicz , Benjamin Cogné , Lucas Bronicki , Lydie Burglen , Magalie Barth , Perrine Charles , Estelle Colin , Christine Coubes , Albert David , Bruno Delobel , Florence Demurger , Sandrine Passemard , Anne-Sophie Denommé , Laurence Faivre , Claire Feger , Mélanie Fradin , Christine Francannet , David Genevieve , Alice Goldenberg , Anne-Marie Guerrot , Bertrand Isidor , Katrine M Johannesen , Boris Keren , Maria Kibæk , Michèle Mathieu-Dramard , Bénédicte Demeer , Julia Metreau , Rikke Steensbjerre Møller , Sébastien Moutton , Laurent Pasquier , Kristina Pilekær Sørensen , Laurence Perrin , Mathilde Renaud , Pascale Saugier , Marlène Rio , Joane Svane , Julien Thevenon , Frédéric Tran Mau Them , Cathrine Elisabeth Tronhjem , Antonio Vitobello , Valérie Layet , Stéphane Auvin , Khaoula Khachnaoui , Marie-Christine Birling , Séverine Drunat , Allan Bayat , Christèle Dubourg , Salima El Chehadeh , Christina Fagerberg , Cyril Mignot , Michel Guipponi , Thierry Bienvenu , Yann Herault , Julie Thompson , Marjolaine Willems , Jean-Louis Mandel , Rosanna Weksberg , Amélie Piton

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

Molecular genetics & genomic medicine

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

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

European journal of medical genetics

Avec: Julian Delanne , Magaly Lecat , Patrick R Blackburn , Eric W Klee , Constance T R M Stumpel , Sander Stegmann , Servi J C Stevens , Caroline Nava , Delphine Heron , Boris Keren , Sonal Mahida , Sakkubai Naidu , Dusica Babovic-Vuksanovic , Johanna C Herkert , Pernille M Torring , Maria Kibæk , Isabelle De Bie , Rolph Pfundt , Yvonne M C Hendriks , Lilian Bomme Ousager , Renee Bend , Hannah Warren , Steven A Skinner , Michael J Lyons , Charlotte Pöe , Martin Chevarin , Thibaud Jouan , Aurore Garde , Quentin Thomas , Emilie Tisserant , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

American journal of medical genetics. Part A

Avec: Guillaume Jouret , Matthieu Egloff , Emilie Landais , Olivier Tassy , Fabienne Giuliano , Houda Karmous-Benailly , Charles Coutton , Véronique Satre , Françoise Devillard , Klaus Dieterich , Gaëlle Vieville , Cédric le Caignec , Claire Beneteau , Bertrand Isidor , Mathilde Nizon , Patrick Callier , Valentine Marquet , Eric Bieth , Jonathan Lévy , Anne-Claude Tabet , Stanislas Lyonnet , Geneviève Baujat , Marlène Rio , François Cartault , Sophie Scheidecker , Aurélie Gouronc , Audrey Schalk , Clémence Jacquin , Marta Spodenkiewicz , Chloé Angélini , Perrine Pennamen , Caroline Rooryck , Martine Doco-Fenzy , Céline Poirsier

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 , 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

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

European journal of human genetics : EJHG

Avec: Camille Engel , Stéphanie Valence , Geoffroy Delplancq , Reza Maroofian , Andrea Accogli , Emanuele Agolini , Fowzan S Alkuraya , Valentina Baglioni , Irene Bagnasco , Mathilde Becmeur-Lefebvre , Enrico Bertini , Ingo Borggraefe , Elise Brischoux-Boucher , Ange-Line Bruel , Alfredo Brusco , Dalal K Bubshait , Christelle Cabrol , Maria Roberta Cilio , Marie-Coralie Cornet , Christine Coubes , Olivier Danhaive , Valérie Delague , Anne-Sophie Denommé-Pichon , Marilena Carmela Di Giacomo , Martine Doco-Fenzy , Hartmut Engels , Kirsten Cremer , Marion Gérard , Joseph G Gleeson , Delphine Heron , Joanna Goffeney , Anne Guimier , Frederike L Harms , Henry Houlden , Michele Iacomino , Rauan Kaiyrzhanov , Benjamin Kamien , Ehsan Ghayoor Karimiani , Dror Kraus , Kerstin Kutsche , Damien Lederer , Lauren Massingham , Cyril Mignot , Déborah Morris-Rosendahl , Lakshmi Nagarajan , Sylvie Odent , Clothilde Ormières , Jennifer Neil Partlow , Laurent Pasquier , Lynette Penney , Christophe Philippe , Gianluca Piccolo , Cathryn Poulton , Audrey Putoux , Marlène Rio , Christelle Rougeot , Vincenzo Salpietro , Ingrid Scheffer , Amy Schneider , Siddharth Srivastava , Rachel Straussberg , Pasquale Striano , Enza Maria Valente , Perrine Venot , Laurent Villard , Antonio Vitobello , Johanna Wagner , Matias Wagner , Maha S Zaki , Federizo Zara , Gaetan Lesca , Vahid Reza Yassaee , Mohammad Miryounesi , Farzad Hashemi-Gorji , Mehran Beiraghi , Farah Ashrafzadeh , Hamid Galehdari , Christopher Walsh , Antonio Novelli , Moritz Tacke , Dinara Sadykova , Yerdan Maidyrov , Kairgali Koneev , Chingiz Shashkin , Valeria Capra , Mina Zamani , Lionel Van Maldergem , Lydie Burglen , Juliette Piard

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.

Journal of inherited metabolic disease

Avec: Francis Ramond , Marlène Rio , Bénédicte Héron , Apolline Imbard , Sandrine Marie , Kareen Billiemaz , Anne-Sophie Denommé-Pichon , Irène Ceballos , Monique Piraud , Marie-Françoise Vincent , Renaud Touraine

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Geoffroy Delplancq , Georges Tarris , Antonio Vitobello , Sophie Nambot , Arthur Sorlin , Christophe Philippe , Virginie Carmignac , Yannis Duffourd , Charlotte Denis , Jean Christophe Eicher , Martin Chevarin , Gilles Millat , Bouchra Khallouk , Thierry Rousseau , Sylvie Falcon-Eicher , Alexandre Vasiljevic , Fara T Harizay , Christel Thauvin-Robinet , Laurence Faivre ,

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

American journal of medical genetics. Part A

Avec: Mirna Assoum , Ange-Line Bruel , Melissa L Crenshaw , Julian Delanne , Ingrid M Wentzensen , Kirsty McWalter , Karin M Dent , Antonio Vitobello , Julien Thevenon , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European journal of human genetics : EJHG

Avec: Christel Thauvin-Robinet , Julien Thevenon , Sophie Nambot , Julian Delanne , Ange-Line Bruel , Aline Chassagne , Elodie Cretin , Aurore Pelissier , Chritine Peyron , Elodie Gautier , Daphné Lehalle , Nolwenn Jean-Marçais , Patrick Callier , Anne-Laure Mosca-Boidron , Antonio Vitobello , Arthur Sorlin , Frédéric Tran Mau-Them , Christophe Philippe , Pierre Vabres , Laurent Demougeot , Charlotte Poé , Thibaud Jouan , Martin Chevarin , Mathilde Lefebvre , Marc Bardou , Emilie Tisserant , Maxime Luu , Christine Binquet , Jean-François Deleuze , Céline Verstuyft , Yannis Duffourd , Laurence Faivre

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

American journal of medical genetics. Part A

Avec: Daphné Lehalle , Roberto Colombo , Michael O'Grady , Bénédicte Héron , Nada Houcinat , Sebastien Moutton , Arthur Sorlin , Julien Thevenon , Julian Delanne , Sebastien Gay , Caroline Racine , Aurore Garde , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Sophie Nambot , Frédéric Huet , Yannis Duffourd , François Feillet , Christel Thauvin-Robinet , Sandrine Marlin , Laurence Faivre

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Molecular genetics and metabolism reports

Avec: Julian Delanne , Ange-Line Bruel , Frédéric Huet , Sébastien Moutton , Sophie Nambot , Margot Grisval , Nada Houcinat , Arthur Sorlin , Patrick Callier , Nolwenn Jean-Marcais , Anne-Laure Mosca-Boidron , Frédéric Tran Mau-Them , Anne-Sophie Denommé-Pichon , Antonio Vitobello , Daphné Lehalle , Salima El Chehadeh , Christine Francannet , Marine Lebrun , Laetitia Lambert , Marie-Line Jacquemont , Marion Gerard-Blanluet , Jean-Luc Alessandri , Marjolaine Willems , Julien Thevenon , Mondher Chouchane , Véronique Darmency , Clémence Fatus-Fauconnier , Sébastien Gay , Marie Bournez , Alice Masurel , Vanessa Leguy , Yannis Duffourd , Christophe Philippe , François Feillet , Laurence Faivre , Christel Thauvin-Robinet

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Avec: N Bourgon , V Carmignac , A Sorlin , Y Duffourd , C Philippe , C Thauvin-Robinet , L Guibaud , L Faivre , P Vabres , P Kuentz , Auteur inconnu

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.

Clinical genetics

Avec: Jonathan Lévy , Bérénice Schell , Hala Nasser , Myriam Rachid , Lyse Ruaud , Nathalie Couque , Patrick Callier , Laurence Faivre , Nathalie Marle , Aafke Engwerda , Conny M A van Ravenswaaij-Arts , Morgane Plutino , Houda Karmous-Benailly , Caroline Benech , Sylvia Redon , Odile Boute , Elise Boudry Labis , Mélanie Rama , Jessica Assoumani , Lionel Van Maldergem , Céline Dupont , Alain Verloes , Anne-Claude Tabet

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

European journal of human genetics : EJHG

Avec: Nicolas Bourgon , Aurore Garde , Ange-Line Bruel , Mathilde Lefebvre , Frederic Tran Mau-Them , Sebastien Moutton , Arthur Sorlin , Sophie Nambot , Julian Delanne , Martin Chevarin , Charlotte Pöe , Julien Thevenon , Daphné Lehalle , Nolween Jean-Marçais , Laetitia Lambert , Salima El Chehadeh , Elise Schaefer , Marjolaine Willems , Fanny Laffargue , Christine Francannet , Mélanie Fradin , Dominique Gaillard , Sophie Blesson , Alice Goldenberg , Yline Capri , Paul Sagot , Thierry Rousseau , Emmanuel Simon , Christine Binquet , Marie-Laure Ascencio , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Antonio Vitobello , Christel Thauvin-Robinet

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.

European journal of medical genetics

Avec: Federico Di Rocco , Maria Lucia Licci , Aurore Garde , Carmine Mottolese , Christel Thauvin-Robinet , Martin Chevarin , Laurent Guibaud , Pierre Vabres , Laurence Faivre

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.

The EMBO journal

Avec: Michele Bertacchi , Anna Lisa Romano , Agnès Loubat , Frederic Tran Mau-Them , Marjolaine Willems , Laurence Faivre , Philippe Khau van Kien , Laurence Perrin , Françoise Devillard , Arthur Sorlin , Christophe Philippe , Aurore Garde , Francesco Neri , Rossella Di Giaimo , Salvatore Oliviero , Silvia Cappello , Ludovico D'Incerti , Carolina Frassoni , Michèle Studer

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal of medical genetics

Avec: Martin Chevarin , Yannis Duffourd , Rebecca A Barnard , Sébastien Moutton , François Lecoquierre , Fatma Daoud , Caroline Cabret , Julien Thevenon , Elodie Gautier , Patrick Callier , Judith St-Onge , Thibaud Jouan , Didier Lacombe , Marie Ange Delrue , Cyril Goizet , Fanny Morice-Picard , Julien Van-Gils , Arnold Munnich , Stanislas Lyonnet , Valérie Cormier-Daire , Geneviève Baujat , Muriel Holder , Florence Petit , Bruno Leheup , Sylvie Odent , Pierre-Simon Jouk , Gipsy Lopez , David Geneviève , Patrick Collignon , Dominique Martin-Coignard , Aurélia Jacquette , Laurence Perrin , Audrey Putoux , Elisabeth Sarrazin , Khadija Amarof , Isabelle Missotte , Christine Coubes , Sujatha Jagadeesh , Elisabetta Lapi , Florence Demurger , Alice Goldenberg , Martine Doco-Fenzy , Cyril Mignot , Delphine Héron , Nolwenn Jean-Marçais , Alice Masurel , Salima El Chehadeh , Nathalie Marle , Frédéric Huet , Christine Binquet , Gwenaëlle Collod-Beroud , Pauline Arnaud , Nadine Hanna , Catherine Boileau , Guillaume Jondeau , Robert Olaso , Doris Lechner , Charlotte Poe , Mirna Assoum , Virginie Carmignac , Laurence Duplomb , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Ange-Line Bruel , Anne Boland , Jean-François Deleuze , Christel Thauvin-Robinet , Jean-Baptiste Rivière , Brian J O'Roak , Laurence Faivre

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Réseau de co-auteurs

Laurence Faivre 27 collaborations

Yannis Duffourd 18 collaborations

Christel Thauvin-Robinet 17 collaborations

Julien Thevenon 16 collaborations

Christophe Philippe 13 collaborations

Arthur Sorlin 12 collaborations

Pierre Vabres 11 collaborations

Ange-Line Bruel 10 collaborations

Antonio Vitobello 10 collaborations

Patrick Callier 10 collaborations

Martin Chevarin 10 collaborations

Bertrand Isidor 9 collaborations

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