Patrick Callier

Affiliations
  • Clinical Genetics Department, Coimbra Paediatric Hospital, Coimbra, Portugal.

Publications (44)

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

European journal of medical genetics
Avec: Elizabeth J Bhoj , Damien Haye , Annick Toutain , Dominique Bonneau , Irene Kibæk Nielsen , Ida Bay Lund , Pauline Bogaard , Stine Leenskjold , Kadri Karaer , Katherine T Wild , Katheryn L Grand , Mirena C Astiazaran , Luis A Gonzalez-Nieto , Ana Carvalho , Daphné Lehalle , Shivarajan M Amudhavalli , Elena Repnikova , Carol Saunders , Isabelle Thiffault , Irfan Saadi , Dong Li , Hakon Hakonarson , Yoann Vial , Elaine Zackai , Patrick Callier , Séverine Drunat , Alain Verloes

High-fat diet intensifies MLL-AF9-induced acute myeloid leukemia through activation of the FLT3 signaling in mouse primitive hematopoietic cells.

Scientific reports
Avec: François Hermetet , Rony Mshaik , John Simonet , Patrick Callier , Laurent Delva , Ronan Quéré

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.

The pharmacogenomics journal
Avec: Simon Verdez , Quentin Thomas , Philippine Garret , Céline Verstuyft , Emilie Tisserant , Antonio Vitobello , Frédéric Tran Mau-Them , Christophe Philippe , Marc Bardou , Maxime Luu , Abderrahmane Bourredjem , Patrick Callier , Christel Thauvin-Robinet , Nicolas Picard , Laurence Faivre , Yannis Duffourd

Assessing a New Prescreening Score for the Simplified Evaluation of the Clinical Quality and Relevance of eHealth Apps: Instrument Validation Study.

Journal of medical Internet research
Avec: Nicolas Wagneur , Patrick Callier , Jean-David Zeitoun , Denise Silber , Remi Sabatier , Fabrice Denis

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 , Paul Kuentz , 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 , 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

Valrubicin-loaded immunoliposomes for specific vesicle-mediated cell death in the treatment of hematological cancers.

Cell death & disease
Avec: Aleksandra Georgievski , Pierre-Simon Bellaye , Benjamin Tournier , Hélène Choubley , Jean-Paul Pais de Barros , Michaële Herbst , Arnaud Béduneau , Patrick Callier , Bertrand Collin , Frédérique Végran , Paola Ballerini , Carmen Garrido , Ronan Quéré

Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Avec: Aude Tessier , Patrick Callier , Nathalie LeMeur , Thierry Frebourg , Jean-Christophe Sabourin , Sophie Patrier

Pathology of Rotavirus-driven Multiple Organ Failure in a 16-month-old Boy.

The Pediatric infectious disease journal
Avec: Georges Tarris , Gaël Belliot , Patrick Callier , Frédéric Huet , Laurent Martin , Alexis de Rougemont

Type A competitiveness traits correlate with downregulation of c-Fos expression in patients with type 1 diabetes.

Diabetes & metabolism
Avec: J-C Chauvet-Gélinier , A-L Mosca-Boidron , C Lemogne , S Ragot , N Forestier , D Callegarin , C Allard , A Rebaï , B Bouillet , E Ponavoy , I Simoneau , J-M Petit , G Bondolfi , P Callier , B Trojak , B Bonin , B Vergès

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

European journal of human genetics : EJHG
Avec: Anne-Sophie Denommé-Pichon , Antonio Vitobello , Robert Olaso , Alban Ziegler , Médéric Jeanne , Frédéric Tran Mau-Them , Victor Couturier , Caroline Racine , Bertrand Isidor , Charlotte Poë , Thibaud Jouan , Anne Boland , Bertrand Fin , Delphine Bacq-Daian , Céline Besse , Aurore Garde , Adeline Prost , Philippine Garret , Émilie Tisserant , Julian Delanne , Sophie Nambot , Aurélien Juven , Magali Gorce , Mathilde Nizon , Marie Vincent , Sébastien Moutton , Mélanie Fradin , Alinoë Lavillaureix , Paul Rollier , Yline Capri , Julien Van-Gils , Tiffany Busa , Sabine Sigaudy , Laurent Pasquier , Magalie Barth , Ange-Line Bruel , Cyril Flamant , Clément Prouteau , Dominique Bonneau , Annick Toutain , Corinne Chantegret , Patrick Callier , Christophe Philippe , Yannis Duffourd , Jean-François Deleuze , Arthur Sorlin , Laurence Faivre , Christel Thauvin-Robinet

iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.

Scientific reports
Avec: Aurélie Mouka , Brahim Arkoun , Pauline Moison , Loïc Drévillon , Rafika Jarray , Sophie Brisset , Anne Mayeur , Jérôme Bouligand , Anne Boland-Auge , Jean-François Deleuze , Frank Yates , Thomas Lemonnier , Patrick Callier , Yannis Duffourd , Patrick Nitschke , Emmanuelle Ollivier , Arnaud Bourdin , John De Vos , Gabriel Livera , Gérard Tachdjian , Leïla Maouche-Chrétien , Lucie Tosca

A rigorous

Frontiers in molecular neuroscience
Avec: Afif Ben-Mahmoud , Kyung Ran Jun , Vijay Gupta , Pinang Shastri , Alberto de la Fuente , Yongsoo Park , Kyung Chul Shin , Chong Ae Kim , Aparecido Divino da Cruz , Irene Plaza Pinto , Lysa Bernardes Minasi , Alex Silva da Cruz , Laurence Faivre , Patrick Callier , Caroline Racine , Lawrence C Layman , Il-Keun Kong , Cheol-Hee Kim , Woo-Yang Kim , Hyung-Goo Kim

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 , Paul Kuentz , Christel Thauvin , Romain Boidot , François Ghiringhelli , Marc O'Driscoll , Laurence Faivre , Sophie Nambot

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

American journal of medical genetics. Part A
Avec: E Viora-Dupont , A Denommé-Pichon , M Chevarin , O Patat , M Willems , N Bourgon , A Bruel , M Aubert-Mucca , M Galinier , R Itier , S Decramer , A Piton , B Gerard , C Billon , X Jeunemaitre , Y Duffourd , P Callier , C Thauvin , C Philippe , L Faivre , J Albuisson , A Vitobello

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

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 , Paul Kuentz , 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

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Molecular genetics & genomic medicine
Avec: Vincent Gatinois , Nicole Bigi , Eve Mousty , Jean Chiesa , Yuri Musizzano , Anouck Schneider , Geneviève Lefort , Lucile Pinson , Jean-Baptiste Gaillard , Clémence Ragon , Marie-Josée Perez , Magali Tournaire , Patricia Blanchet , Carole Corsini , Emmanuelle Haquet , Patrick Callier , David Geneviève , Franck Pellestor , Jacques Puechberty

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

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

European journal of human genetics : EJHG
Avec: Ange-Line Bruel , Sophie Nambot , Virginie Quéré , Antonio Vitobello , Julien Thevenon , Mirna Assoum , Sébastien Moutton , Nada Houcinat , Daphné Lehalle , Nolwenn Jean-Marçais , Auteur inconnu , Martin Chevarin , Thibaud Jouan , Charlotte Poë , Patrick Callier , Emilie Tisserand , Christophe Philippe , Frédéric Tran Mau Them , Yannis Duffourd , Laurence Faivre , Christel Thauvin-Robinet

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular genetics & genomic medicine
Avec: Frederic Tran Mau-Them , Yannis Duffourd , Antonio Vitobello , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Sophie Nambot , Julian Delanne , Sebastien Moutton , Arthur Sorlin , Auteur inconnu , Victor Couturier , Valentin Bourgeois , Martin Chevarin , Charlotte Poe , Anne-Laure Mosca-Boidron , Patrick Callier , Hana Safraou , Laurence Faivre , Christophe Philippe , Christel Thauvin-Robinet

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 , 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

Novel role of fluorescent in situ hybridization technique (FISH) in recommended surgical margins of dermatofibrosarcoma protuberans: A preliminary study.

Annales de chirurgie plastique et esthetique
Avec: A Hallier , P Callier , J Sauge , S Cristofari , G A G Lombardo , M-H Aubriot-Lorton , A Stivala

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Clinical genetics
Avec: Virginie Carmignac , Sophie Nambot , Daphné Lehalle , Patrick Callier , Stephanie Moortgat , Valérie Benoit , Jamal Ghoumid , Bruno Delobel , Thomas Smol , Caroline Thuillier , Cécile Zordan , Sophie Naudion , Thierry Bienvenu , Renaud Touraine , Francis Ramond , Christiane Zweier , André Reis , Cornelia Kraus , Mathilde Nizon , Benjamin Cogné , Alain Verloes , Frédéric Tran Mau-Them , Arthur Sorlin , Thibaud Jouan , Yannis Duffourd , Emilie Tisserant , Christophe Philippe , Antonio Vitobello , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet

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 , Paul Kuentz , 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

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ange-Line Bruel , Antonio Vitobello , Frédéric Tran Mau-Them , Sophie Nambot , Yannis Duffourd , Virginie Quéré , Paul Kuentz , Philippine Garret , Julien Thevenon , Sébastien Moutton , Daphné Lehalle , Nolwenn Jean-Marçais , Auteur inconnu , Aurore Garde , Julian Delanne , Mathilde Lefebvre , François Lecoquierre , Detlef Trost , Megan Cho , Amber Begtrup , Aida Telegrafi , Pierre Vabres , Anne-Laure Mosca-Boidron , Patrick Callier , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lucilla Pizzo , Matthew Jensen , Andrew Polyak , Jill A Rosenfeld , Katrin Mannik , Arjun Krishnan , Elizabeth McCready , Olivier Pichon , Cedric Le Caignec , Anke Van Dijck , Kate Pope , Els Voorhoeve , Jieun Yoon , Paweł Stankiewicz , Sau Wai Cheung , Damian Pazuchanics , Emily Huber , Vijay Kumar , Rachel L Kember , Francesca Mari , Aurora Curró , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Luana Mandarà , Marie Vincent , Mathilde Nizon , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Dominique Martin-Coignard , Anne-Laure Mosca-Boidron , Jean-Hubert Caberg , Maja Bucan , Susan Zeesman , Małgorzata J M Nowaczyk , Mathilde Lefebvre , Laurence Faivre , Patrick Callier , Cindy Skinner , Boris Keren , Charles Perrine , Paolo Prontera , Nathalie Marle , Alessandra Renieri , Alexandre Reymond , R Frank Kooy , Bertrand Isidor , Charles Schwartz , Corrado Romano , Erik Sistermans , David J Amor , Joris Andrieux , Santhosh Girirajan

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Journal of medical genetics
Avec: Quentin Thomas , Antonio Vitobello , Frederic Tran Mau-Them , Yannis Duffourd , Agnès Fromont , Maurice Giroud , Benoit Daubail , Agnès Jacquin-Piques , Marie Hervieu-Begue , Thibault Moreau , Guy-Victor Osseby , Philippine Garret , Sophie Nambot , Julian Delanne , Ange-Line Bruel , Arthur Sorlin , Patrick Callier , Anne-Sophie Denomme-Pichon , Laurence Faivre , Yannick Béjot , Christophe Philippe , Christel Thauvin-Robinet , Sébastien Moutton

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Thomas , Thierry Gautier , Dana Marafi , Thomas Besnard , Marjolaine Willems , Sébastien Moutton , Bertand Isidor , Benjamin Cogné , Solène Conrad , Romano Tenconi , Maria Iascone , Arthur Sorlin , Alice Masurel , Tabib Dabir , Adam Jackson , Siddharth Banka , Julian Delanne , James R Lupski , Nebal Waill Saadi , Fowzan S Alkuraya , Fatema Al Zahrani , Pankaj B Agrawal , Eleina England , Jill A Madden , Jennifer E Posey , Lydie Burglen , Diana Rodriguez , Martin Chevarin , Sylvie Nguyen , Frédéric Tran Mau-Them , Yannis Duffourd , Philippine Garret , Ange-Line Bruel , Patrick Callier , Nathalie Marle , Anne-Sophie Denomme-Pichon , Laurence Duplomb , Christophe Philippe , Christel Thauvin-Robinet , Jérôme Govin , Laurence Faivre , Antonio Vitobello

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.

Annals of human genetics
Avec: Emilie Tisserant , Antonio Vitobello , Davide Callegarin , Simon Verdez , Ange-Line Bruel , Ludwig Serge Aho Glele , Arthur Sorlin , Eleonore Viora-Dupont , Marina Konyukh , Nathalie Marle , Sophie Nambot , Sébastien Moutton , Caroline Racine , Aurore Garde , Julian Delanne , Frédéric Tran-Mau-Them , Christophe Philippe , Paul Kuentz , Marlène Poulleau , Muriel Payet , Charlotte Poe , Christel Thauvin-Robinet , Laurence Faivre , Anne-Laure Mosca-Boidron , Julien Thevenon , Yannis Duffourd , Patrick Callier

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

medRxiv : the preprint server for health sciences
Avec: Matthew Jensen , Corrine Smolen , Anastasia Tyryshkina , Lucilla Pizzo , Deepro Banerjee , Matthew Oetjens , Hermela Shimelis , Cora M Taylor , Vijay Kumar Pounraja , Hyebin Song , Laura Rohan , Emily Huber , Laila El Khattabi , Ingrid van de Laar , Rafik Tadros , Connie Bezzina , Marjon van Slegtenhorst , Janneke Kammeraad , Paolo Prontera , Jean-Hubert Caberg , Harry Fraser , Siddhartha Banka , Anke Van Dijck , Charles Schwartz , Els Voorhoeve , Patrick Callier , Anne-Laure Mosca-Boidron , Nathalie Marle , Mathilde Lefebvre , Kate Pope , Penny Snell , Amber Boys , Paul J Lockhart , Myla Ashfaq , Elizabeth McCready , Margaret Nowacyzk , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Maria Grazia Bruccheri , Giuseppa Maria Luana Mandarà , Francesca Mari , Flavia Privitera , Ilaria Longo , Aurora Curró , Alessandra Renieri , Boris Keren , Perrine Charles , Silvestre Cuinat , Mathilde Nizon , Olivier Pichon , Claire Bénéteau , Radka Stoeva , Dominique Martin-Coignard , Sophia Blesson , Cedric Le Caignec , Sandra Mercier , Marie Vincent , Christa Martin , Katrin Mannik , Alexandre Reymond , Laurence Faivre , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Joris Andrieux , Santhosh Girirajan

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

Human genetics
Avec: Frederic Tran Mau-Them , Sebastien Moutton , Caroline Racine , Antonio Vitobello , Ange-Line Bruel , Sophie Nambot , Steven A Kushner , Femke M S de Vrij , Daphné Lehalle , Nolwenn Jean-Marçais , François Lecoquierre , Julian Delanne , Julien Thevenon , Charlotte Poe , Thibaut Jouan , Martin Chevarin , David Geneviève , Marjolaine Willems , Christine Coubes , Nada Houcinat , Alice Masurel-Paulet , Anne-Laure Mosca-Boidron , Emilie Tisserant , Patrick Callier , Arthur Sorlin , Yannis Duffourd , Laurence Faivre , Christophe Philippe , Christel Thauvin-Robinet

Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.

Clinical genetics
Avec: Ange-Line Bruel , Antonio Vitobello , Frédéric Tran Mau-Them , Sophie Nambot , Arthur Sorlin , Anne-Sophie Denommé-Pichon , Julian Delanne , Sébastien Moutton , Patrick Callier , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

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

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 , Paul Kuentz , 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

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

Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene.

Diabetes & metabolism
Avec: B Bouillet , E Crevisy , S Baillot-Rudoni , D Gallegarine , T Jouan , Y Duffourd , J M Petit , B Vergès , P Callier

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 , Paul Kuentz , 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

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 , Paul Kuentz , Jessica Assoumani , Lionel Van Maldergem , Céline Dupont , Alain Verloes , Anne-Claude Tabet

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

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

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

medRxiv : the preprint server for health sciences
Avec: Corrine Smolen , Matthew Jensen , Lisa Dyer , Lucilla Pizzo , Anastasia Tyryshkina , Deepro Banerjee , Laura Rohan , Emily Huber , Laila El Khattabi , Paolo Prontera , Jean-Hubert Caberg , Anke Van Dijck , Charles Schwartz , Laurence Faivre , Patrick Callier , Anne-Laure Mosca-Boidron , Mathilde Lefebvre , Kate Pope , Penny Snell , Paul J Lockhart , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Giuseppa Maria Luana Mandarà , Maria Grazia Bruccheri , Olivier Pichon , Cedric Le Caignec , Radka Stoeva , Silvestre Cuinat , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Ashley Nordsletten , Dominique Martin-Coignard , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Bertrand Isidor , Jane Juusola , Santhosh Girirajan

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

American journal of human genetics
Avec: Elke Bogaert , Aurore Garde , Thierry Gautier , Kathleen Rooney , Yannis Duffourd , Pontus LeBlanc , Emma van Reempts , Frederic Tran Mau-Them , Ingrid M Wentzensen , Kit Sing Au , Kate Richardson , Hope Northrup , Vincent Gatinois , David Geneviève , Raymond J Louie , Michael J Lyons , Lone Walentin Laulund , Charlotte Brasch-Andersen , Trine Maxel Juul , Fatima El It , Nathalie Marle , Patrick Callier , Raissa Relator , Sadegheh Haghshenas , Haley McConkey , Jennifer Kerkhof , Claudia Cesario , Antonio Novelli , Nicola Brunetti-Pierri , Michele Pinelli , Perrine Pennamen , Sophie Naudion , Marine Legendre , Cécile Courdier , Aurelien Trimouille , Martine Doco Fenzy , Lynn Pais , Alison Yeung , Kimberly Nugent , Elizabeth R Roeder , Tadahiro Mitani , Jennifer E Posey , Daniel Calame , Hagith Yonath , Jill A Rosenfeld , Luciana Musante , Flavio Faletra , Francesca Montanari , Giovanna Sartor , Alessandra Vancini , Marco Seri , Claude Besmond , Karine Poirier , Laurence Hubert , Dimitri Hemelsoet , Arnold Munnich , James R Lupski , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre , Bekim Sadikovic , Jérôme Govin , Bart Dermaut , Antonio Vitobello

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

American journal of human genetics
Avec: Corrine Smolen , Matthew Jensen , Lisa Dyer , Lucilla Pizzo , Anastasia Tyryshkina , Deepro Banerjee , Laura Rohan , Emily Huber , Laila El Khattabi , Paolo Prontera , Jean-Hubert Caberg , Anke Van Dijck , Charles Schwartz , Laurence Faivre , Patrick Callier , Anne-Laure Mosca-Boidron , Mathilde Lefebvre , Kate Pope , Penny Snell , Paul J Lockhart , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Giuseppa Maria Luana Mandarà , Maria Grazia Bruccheri , Olivier Pichon , Cedric Le Caignec , Radka Stoeva , Silvestre Cuinat , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Ashley Nordsletten , Dominique Martin-Coignard , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Bertrand Isidor , Jane Juusola , Santhosh Girirajan

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Laurence Faivre 29 collaborations
Yannis Duffourd 22 collaborations
Antonio Vitobello 18 collaborations
Christel Thauvin-Robinet 18 collaborations
Christophe Philippe 17 collaborations
Sophie Nambot 13 collaborations
Ange-Line Bruel 13 collaborations
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