Sylvie Jaillard

Affiliations
  • CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de recherche en santé, environnement et travail) - UMR_S 1085, F-35000, Rennes, France.

Publications (49)

Ovarian response to stimulation for fertility preservation in women with hematologic cancer.

Journal of gynecology obstetrics and human reproduction
Avec: Tiffany Brun , Ludivine Dion , Diane Bales , Mathilde Domin , Vincent Lavoué , Jean Levêque , Roch Houot , Solène Duros

TP63-truncating variants cause isolated premature ovarian insufficiency.

Human mutation
Avec: Elena J Tucker , Sonia R Grover , Jocelyn van den Bergen , Gorjana Robevska , Katrina M Bell , Simon Sadedin , Chloe Hanna , Jérôme Dulon , Philippe Touraine , Andrew H Sinclair

Diagnosis of uncommon renal epithelial neoplasms: performances of fluorescence in situ hybridization.

Human pathology
Avec: Marion Beaumont , Frédéric Dugay , Solène-Florence Kammerer-Jacquet , Florian Cabillic , Romain Mathieu , Gregory Verhoest , Karim Bensalah , Nathalie Rioux-Leclercq , Marc-Antoine Belaud-Rotureau , Auteur inconnu

Autophagy is increased in cryptorchid testis resulting in abnormal spermatozoa.

Asian journal of andrology
Avec: Marina G Yefimova , Antoine Buschiazzo , Agnes Burel , Marie-Therese Lavault , Celine Pimentel , Guilhem Jouve , Bernard Jegou , Nicolas Bourmeyster , Celia Ravel

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.

Human mutation
Avec: Elena J Tucker , Niklas Gutfreund , Marc-Antoine Belaud-Rotureau , David Gilot , Tiffany Brun , Brianna L Kline , Katrina M Bell , Mathilde Domin-Bernhard , Camille Théard , Philippe Touraine , Gorjana Robevska , Jocelyn van van den Bergen , Katie L Ayers , Andrew H Sinclair , Volker Dötsch ,

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

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

Hypothermic machine perfusion for uterus transplantation.

Fertility and sterility
Avec: Ludivine Dion , Carla Sousa , Karim Boudjema , David Val-Laillet , Nathalie Rioux-Leclercq , Erwan Flecher , Vincent Lavoue

Granulosa cells provide elimination of apoptotic oocytes through unconventional autophagy-assisted phagocytosis.

Human reproduction (Oxford, England)
Avec: M G Yefimova , C Lefevre , A Bashamboo , C Eozenou , A Burel , M T Lavault , A C Meunier , C Pimentel , S Veau , A S Neyroud , S Jaillard , B Jégou , N Bourmeyster , C Ravel

Performance of diagnostic ultrasound to identify causes of hydramnios.

Prenatal diagnosis
Avec: Marie-José Adam , Isabelle Enderle , Gwenaëlle Le Bouar , Anne-Sophie Cabaret-Dufour , Cécile Tardif , Laurence Contin , Alexis Arnaud , Maïa Proisy , Laurent Pasquier , Maela Le Lous

Extra-cellular vesicles of the male genital tract: new actors in male fertility?

Basic and clinical andrology
Avec: Anne-Sophie Neyroud , Régina Chiechio , Marina Yefimova , Maria Josè Lo Faro , Nathalie Dejucq-Rainsford , Pascale Even-Hernandez , Valérie Marchi , Célia Ravel

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

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

Anti-Müllerian hormone: A function beyond the Müllerian structures.

Morphologie : bulletin de l'Association des anatomistes
Avec: S Bertho , A S Neyroud , T Brun , S Jaillard , F Bonnet , C Ravel

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.

Human mutation
Avec: Laura Mary , Delphine Leclerc , David Gilot , Marc-Antoine Belaud-Rotureau ,

Mayer-Rokitansky-Küster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation.

Journal of gynecology obstetrics and human reproduction
Avec: C Sousa , I Carton , S Jaillard , A Cospain , A Lavillaureix , K Nyangoh Timoh , M Juricic , V Lavoué , L Dion

3q29 duplications: A cohort of 46 patients and a literature review.

American journal of medical genetics. Part A
Avec: Marie Massier , Martine Doco-Fenzy , Matthieu Egloff , Xavier Le Guillou , Gwenaël Le Guyader , Sylvia Redon , Caroline Benech , Karine Le Millier , Kevin Uguen , Juliette Ropars , Elise Sacaze , Séverine Audebert-Bellanger , Andreea Apetrei , Arnaud Molin , Nicolas Gruchy , Aline Vincent-Devulder , Marta Spodenkiewicz , Clémence Jacquin , Gauthier Loron , Marie Thibaud , Geoffroy Delplancq , Sophie Brisset , Marion Lesieur-Sebellin , Valérie Malan , Serge Romana , Marlène Rio , Sandrine Marlin , Jeanne Amiel , Valentine Marquet , Benjamin Dauriat , Kamran Moradkhani , Sandra Mercier , Bertrand Isidor , Stéphanie Arpin , Mathilde Pujalte , Guillaume Jedraszak , Céline Pebrel-Richard , Gaëlle Salaun , Fanny Laffargue , John Boudjarane , Chantal Missirian , Nora Chelloug , Annick Toutain , Jean Chiesa , Boris Keren , Cyril Mignot , Evan Gouy , Emilie Landais , Céline Poirsier

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Journal of medical genetics
Avec: Silvestre Cuinat , Chloé Quélin , Claire Effray , Christèle Dubourg , Gwenaelle Le Bouar , Anne-Sophie Cabaret-Dufour , Philippe Loget , Maia Proisy , Fanny Sauvestre , Mélie Sarreau , Sophie Martin-Berenguer , Claire Beneteau , Sophie Naudion , Vincent Michaud , Benoit Arveiler , Aurélien Trimouille , Pierre Macé , Sabine Sigaudy , Olga Glazunova , Julia Torrents , Laure Raymond , Marie-Hélène Saint-Frison , Tania Attié-Bitach , Mathilde Lefebvre , Yline Capri , Nicolas Bourgon , Christel Thauvin-Robinet , Frédéric Tran Mau-Them , Ange-Line Bruel , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Laurence Faivre , Anne-Claire Brehin , Alice Goldenberg , Sophie Patrier-Sallebert , Alexandre Perani , Benjamin Dauriat , Sylvie Bourthoumieu , Catherine Yardin , Valentine Marquet , Marion Barnique , Maryse Fiorenza-Gasq , Isabelle Marey , Danielle Tournadre , Raïa Doumit , Frédérique Nugues , Tahsin Stefan Barakat , Francisco Bustos , Erika Launay , Laurent Pasquier , Sylvie Odent

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Human genetics
Avec: Elena J Tucker , Rocio Rius , Katrina Bell , Phillipa J Lamont , André Travessa , Juliette Dupont , Lurdes Sampaio , Jérôme Dulon , Sandrine Vuillaumier-Barrot , Sandra Whalen , Arnaud Isapof , Tanya Stojkovic , Susana Quijano-Roy , Gorjana Robevska , Jocelyn van den Bergen , Chloe Hanna , Andrea Simpson , Katie Ayers , David R Thorburn , John Christodoulou , Philippe Touraine , Andrew H Sinclair

The Landscape and Therapeutic Implications of Molecular Profiles in Epithelial Ovarian Cancer.

Journal of clinical medicine
Avec: Ludivine Dion , Isis Carton , Krystel Nyangoh Timoh , Sébastien Henno , Hugo Sardain , Fabrice Foucher , Jean Levêque , Thibault de la Motte Rouge , Susie Brousse , Vincent Lavoué

[Autophagy and spermatozoa].

Medecine sciences : M/S
Avec: Antoine Buschiazzo , Marina Yefimova , Nicolas Bourmeyster , Alain Fautrel , Agnès Burel , Anne-Sophie Neyroud , Céline Pimentel , Bernard Jégou , Célia Ravel

Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.

Cytogenetic and genome research
Avec: Laura Mary , Philippe Loget , Sylvie Odent , Dominique Aussel , Gwenaelle Le Bouar , Erika Launay , Catherine Henry , Marc-Antoine Belaud-Rotureau ,

Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.

Cytogenetic and genome research
Avec: Saloua Toujani , Elena J Tucker , Linda Akloul , Laura Mary , Céline Pimentel , Erika Launay , Lucas Freton , Guilhem Jouve , Catherine Henry , Sylvie Odent , Marc-Antoine Belaud-Rotureau ,

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.

Genes
Avec: Brianna L Kline , Katrina M Bell , Shabnam Bakhshalizadeh , Gorjana Robevska , Jocelyn van den Bergen , Jérôme Dulon , Katie L Ayers , John Christodoulou , Michel C Tchan , Philippe Touraine , Andrew H Sinclair , Elena J Tucker

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.

European journal of human genetics : EJHG
Avec: Anne Sophie Neyroud , Joëlle Rudinger-Thirion , Magali Frugier , Lisa G Riley , Maud Bidet , Linda Akloul , Andrea Simpson , David Gilot , John Christodoulou , Célia Ravel , Andrew H Sinclair , Marc-Antoine Belaud-Rotureau , Elena J Tucker ,

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

Prenatal diagnosis
Avec: Cécile Courdier , John Boudjarane , Valérie Malan , Christine Muti , Brian Sperelakis-Beedham , Sylvie Odent , Chloé Quelin , Cédric Le Caignec , Olivier Patat , Charlotte Dubucs , Sophie Julia , Caroline Schluth-Bolard , Carole Goumy , Sylvia Redon , Jean-Baptiste Gaillard , Minh Tuan Huynh , Céline Dupont , Anne-Claude Tabet , Guillaume Cogan , François Vialard , Rodolphe Dard , Guillaume Jedraszak , Florence Jobic , Mathilde Lefebvre , Geneviève Quenum , Saori Inai , Mélanie Rama , Fanny Sauvestre , Frédéric Coatleven , Julie Thomas , Caroline Rooryck

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.

European journal of medical genetics
Avec: L Mary , M Fradin , L Pasquier , C Quelin , P Loget , M Le Lous , G Le Bouar , S Nivot-Adamiak , A Lokchine , C Dubourg , V Jauffret , B Nouyou , C Henry , E Launay , S Odent , S Jaillard , M A Belaud-Rotureau

Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.

Clinical genetics
Avec: Elena J Tucker , Michael F Sharp , Anna Lokchine , Katrina M Bell , Catherine S Palmer , Brianna L Kline , Gorjana Robevska , Jocelyn van den Bergen , Jérôme Dulon , Diana Stojanovski , Katie L Ayers , Philippe Touraine , Wayne Crismani , Andrew H Sinclair

Functional characterisation of human recessive DIS3 variants in premature ovarian insufficiency.

Biology of reproduction
Avec: Brianna L Kline , Nicole A Siddall , Fernando Wijaya , Catherine J Stuart , Luisa Orlando , Shabnam Bakhshalizadeh , Fateme Afkhami , Katrina M Bell , Gorjana Robevska , Jocelyn A Bergen , Shirin Shahbazi , Ambro Hoof , Katie L Ayers , Gary R Hime , Andrew H Sinclair , Elena J Tucker

Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.

Acta obstetricia et gynecologica Scandinavica
Avec: Auriane Cospain , Ludivine Dion , Maud Bidet , Krystel Nyangoh Timoh , Chloé Quelin , Isis Carton , Alinoe Lavillaureix , Karine Morcel , Paul Rollier , Laurent Pasquier , Bénédicte Nouyou , Sylvie Odent , Daniel Guerrier , Erika Launay , Marc-Antoine Belaud Rotureau , Mélanie Fradin , Vincent Lavoué

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

American journal of medical genetics. Part A
Avec: Solène Conrad , Florence Demurger , Kamran Moradkhani , Olivier Pichon , Cédric Le Caignec , Cécile Pascal , Caroline Thomas , Sophie Bayart , Antoinette Perlat , Christèle Dubourg , Mathilde Nizon

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 Redon , Myléne Valduga , Charles Coutton , Chantal Missirian , Fabienne Prieur , Brigitte Simon-Bouy , Claire Beneteau , Paul Kuentz , Caroline Rooryck , Nicolas Gruchy , Nathalie Marle , Morgane Plutino , Lucie Tosca , Celine Dupont , Jacques Puechberty , Caroline Schluth-Bolard , Laurent Salomon , Damien Sanlaville , Valérie Malan , François Vialard

[Neo-oogenesis in the adult ovary: What do we know?]

Gynecologie, obstetrique, fertilite & senologie
Avec: S Sun , C Pimentel , M Yefimova , S Jaillard , C Ravel

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ash Zawerton , Cyril Mignot , Ashley Sigafoos , Patrick R Blackburn , Abdul Haseeb , Kirsty McWalter , Shoji Ichikawa , Caroline Nava , Boris Keren , Perrine Charles , Isabelle Marey , Anne-Claude Tabet , Jonathan Levy , Laurence Perrin , Andreas Hartmann , Gaetan Lesca , Caroline Schluth-Bolard , Pauline Monin , Sophie Dupuis-Girod , Maria J Guillen Sacoto , Rhonda E Schnur , Zehua Zhu , Alice Poisson , Salima El Chehadeh , Yves Alembik , Ange-Line Bruel , Daphné Lehalle , Sophie Nambot , Sébastien Moutton , Sylvie Odent , Christèle Dubourg , Yvonne Hilhorst-Hofstee , Tina Barbaro-Dieber , Lucia Ortega , Elizabeth J Bhoj , Diane Masser-Frye , Lynne M Bird , Kristin Lindstrom , Keri M Ramsey , Vinodh Narayanan , Emily Fassi , Marcia Willing , Trevor Cole , Claire G Salter , Rhoda Akilapa , Anthony Vandersteen , Natalie Canham , Patrick Rump , Erica H Gerkes , Jolien S Klein Wassink-Ruiter , Emilia Bijlsma , Mariëtte J V Hoffer , Marcelo Vargas , Antonina Wojcik , Florian Cherik , Christine Francannet , Jill A Rosenfeld , Keren Machol , Daryl A Scott , Carlos A Bacino , Xia Wang , Gary D Clark , Marta Bertoli , Simon Zwolinski , Rhys H Thomas , Ela Akay , Richard C Chang , Rebekah Bressi , Rossana Sanchez Russo , Myriam Srour , Laura Russell , Anne-Marie E Goyette , Lucie Dupuis , Roberto Mendoza-Londono , Catherine Karimov , Maries Joseph , Mathilde Nizon , Benjamin Cogné , Alma Kuechler , Amélie Piton , Auteur inconnu , Eric W Klee , Véronique Lefebvre , Karl J Clark , Christel Depienne

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.

Molecular human reproduction
Avec: Kenneth McElreavy , Gorjana Robevska , Linda Akloul , Farah Ghieh , Rajini Sreenivasan , Marion Beaumont , Anu Bashamboo , Joelle Bignon-Topalovic , Anne-Sophie Neyroud , Katrina Bell , Elisabeth Veron-Gastard , Erika Launay , Jocelyn van den Bergen , Bénédicte Nouyou , François Vialard , Marc-Antoine Belaud-Rotureau , Katie L Ayers , Sylvie Odent , Célia Ravel , Elena J Tucker , Andrew H Sinclair

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.

European journal of medical genetics
Avec: Melanie Fradin , Alinoe Lavillaureix , Chloe Quelin , Paul Sauleau , Marie-Christine Minot , Dominique Menard , Gilles Edan , Irene Ceballos , Catherine Treguier , Maia Proisy , Corinne Magdelaine , Anne-Sophie Lia , Sylvie Odent , Laurent Pasquier

Reporting of patient safety incidents in minimally invasive thoracic surgery: a national registered thoracic surgeons experience for improvement of patient safety.

Interactive cardiovascular and thoracic surgery
Avec: Benjamin Bottet , Caroline Rivera , Marcel Dahan , Pierre-Emmanuel Falcoz , Sophie Jaillard , Jean-Marc Baste , Agathe Seguin-Givelet , Richard Bertrand de la Tour , Francois Bellenot , Alain Rind , Dominique Gossot , Pascal-Alexandre Thomas , Xavier Benoit D'Journo

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.

The Journal of clinical endocrinology and metabolism
Avec: Elena J Tucker , Megan J Baker , Daniella H Hock , Julia T Warren , Katrina M Bell , Rajini Sreenivasan , Shabnam Bakhshalizadeh , Chloe A Hanna , Nikeisha J Caruana , Saskia B Wortmann , Shamima Rahman , Robert D S Pitceathly , Jean Donadieu , Aurelia Alimi , Vincent Launay , Paul Coppo , Sophie Christin-Maitre , Gorjana Robevska , Jocelyn van den Bergen , Brianna L Kline , Katie L Ayers , Phoebe N Stewart , David A Stroud , Diana Stojanovski , Andrew H Sinclair

Gene Editing Corrects

The CRISPR journal
Avec: Delphine Leclerc , Louise Goujon , Bénédicte Nouyou , Laurence Cluzeau , Léna Damaj , Christèle Dubourg , Amandine Etcheverry , Thierry Levade , Roseline Froissart , Stéphane Dréano , Xavier Guillory , Leif A Eriksson , Erika Launay , Frédéric Mouriaux , Marc-Antoine Belaud-Rotureau , Sylvie Odent , David Gilot

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.

Human genetics
Avec: Shabnam Bakhshalizadeh , Daniella H Hock , Nicole A Siddall , Brianna L Kline , Rajini Sreenivasan , Katrina M Bell , Franca Casagranda , Sadishkumar Kamalanathan , Jayaprakash Sahoo , Niya Narayanan , Dukhabandhu Naik , Varun Suryadevara , Alison G Compton , Sumudu S C Amarasekera , Ridam Kapoor , Andrea Simpson , Gorjana Robevska , Jocelyn van den Bergen , Svenja Pachernegg , Katie L Ayers , David R Thorburn , David A Stroud , Gary R Hime , Andrew H Sinclair , Elena J Tucker

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.

Maturitas
Avec: Rajini Sreenivasan , Marion Beaumont , Gorjana Robevska , Christèle Dubourg , Ingrid M Knarston , Linda Akloul , Jocelyn van den Bergen , Sylvie Odent , Brittany Croft , Guilhem Jouve , Sonia R Grover , Solène Duros , Céline Pimentel , Marc-Antoine Belaud-Rotureau , Katie L Ayers , Célia Ravel , Elena J Tucker , Andrew H Sinclair

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.

Cytogenetic and genome research
Avec: Marion Beaumont , Elena J Tucker , Laura Mary , Erika Launay , Yann Lurton , Céline Pimentel , Paul Rollier , Linda Akloul , Claire Beneteau , Solène Chevallier-Bordeau , Anne-Sophie Neyroud , Olivier Pichon , Célia Ravel , Sylvie Odent , Marc-Antoine Belaud-Rotureau ,

[Anonymity of gamete donation and genetic testing].

Gynecologie, obstetrique, fertilite & senologie
Avec: A-S Neyroud , M Roche , M Domin , S Jaillard , C Ravel

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 , 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

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.

European journal of medical genetics
Avec: Laura Mary , Alinoë Lavillaureix , Adélie Perrot , Philippe Loget , Erika Launay , Anne-Sophie Leborgne , Florence Demurger , Mélanie Fradin , Gwenaelle Le Bouar , Chloé Quélin , Christèle Dubourg , Laurent Pasquier , Sylvie Odent , Marc-Antoine Belaud-Rotureau ,

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

European journal of human genetics : EJHG
Avec: Elena J Tucker , Katrina M Bell , Gorjana Robevska , Jocelyn van den Bergen , Katie L Ayers , Nurin Listyasari , Sultana Mh Faradz , Jérôme Dulon , Shabnam Bakhshalizadeh , Rajini Sreenivasan , Benedicte Nouyou , Wilfrid Carre , Linda Akloul , Solène Duros , Mathilde Domin-Bernhard , Marc-Antoine Belaud-Rotureau , Philippe Touraine , Andrew H Sinclair

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.

Maturitas
Avec: Katrina Bell , Linda Akloul , Kelly Walton , Kenneth McElreavy , William A Stocker , Marion Beaumont , Craig Harrisson , Tiina Jääskeläinen , Jorma J Palvimo , Gorjana Robevska , Erika Launay , Anne-Pascale Satié , Nurin Listyasari , Claude Bendavid , Rajini Sreenivasan , Solène Duros , Jocelyn van den Bergen , Catherine Henry , Mathilde Domin-Bernhard , Laurence Cornevin , Nathalie Dejucq-Rainsford , Marc-Antoine Belaud-Rotureau , Sylvie Odent , Katie L Ayers , Célia Ravel , Elena J Tucker , Andrew H Sinclair

Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.

Human reproduction (Oxford, England)
Avec: F Ghieh , A L Barbotin , N Swierkowski-Blanchard , C Leroy , J Fortemps , C Gerault , C Hue , H Mambu Mambueni , S Jaillard , M Albert , M Bailly , V Izard , D Molina-Gomes , F Marcelli , J Prasivoravong , V Serazin , M N Dieudonne , M Delcroix , H J Garchon , A Louboutin , B Mandon-Pepin , S Ferlicot , F Vialard

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 , Paul Kuentz , 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

Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.

Molecular and cellular endocrinology
Avec: Shabnam Bakhshalizadeh , Fateme Afkhami , Katrina M Bell , Gorjana Robevska , Jocelyn van den Bergen , Sara Cronin , Katie L Ayers , Pramod Kumar , Christian Siebold , Zhangping Xiao , Edward W Tate , Shahla Danaei , Laya Farzadi , Shirin Shahbazi , Andrew H Sinclair , Elena J Tucker

A Human Homozygous

Genes
Avec: Shabnam Bakhshalizadeh , Anthony D Bird , Rajini Sreenivasan , Katrina M Bell , Gorjana Robevska , Jocelyn van den Bergen , Mohammad Asghari-Jafarabadi , Andrew J Kueh , Philippe Touraine , Anna Lokchine , Katie L Ayers , Dagmar Wilhelm , Andrew H Sinclair , Elena J Tucker

Réseau de co-auteurs

Elena J Tucker 17 collaborations
Andrew H Sinclair 15 collaborations
Marc-Antoine Belaud-Rotureau 15 collaborations
Gorjana Robevska 14 collaborations
Sylvie Odent 14 collaborations
Jocelyn van den Bergen 12 collaborations
Katie L Ayers 12 collaborations
Katrina M Bell 10 collaborations
Erika Launay 9 collaborations
Philippe Touraine 7 collaborations
Laura Mary 7 collaborations
S Jaillard 7 collaborations
Célia Ravel 7 collaborations
Linda Akloul 7 collaborations
Shabnam Bakhshalizadeh 7 collaborations
Rajini Sreenivasan 7 collaborations
Brianna L Kline 6 collaborations
Laurent Pasquier 6 collaborations
Christèle Dubourg 6 collaborations
Jérôme Dulon 5 collaborations
Marion Beaumont 5 collaborations
David Gilot 5 collaborations
François Vialard 5 collaborations
Valérie Malan 5 collaborations
Caroline Schluth-Bolard 5 collaborations
Ludivine Dion 4 collaborations
Solène Duros 4 collaborations
Philippe Loget 4 collaborations
C Ravel 4 collaborations
Anne-Sophie Neyroud 4 collaborations
Anne-Claude Tabet 4 collaborations
Claire Beneteau 4 collaborations
Céline Pimentel 4 collaborations
Vincent Lavoué 3 collaborations
Guilhem Jouve 3 collaborations
Mathilde Domin-Bernhard 3 collaborations
Delphine Leclerc 3 collaborations
Anna Lokchine 3 collaborations
Marianne Till 3 collaborations
Céline Dupont 3 collaborations
Charles Coutton 3 collaborations
Sylvia Redon 3 collaborations
Damien Sanlaville 3 collaborations
Nicolas Gruchy 3 collaborations
Chantal Missirian 3 collaborations
Cyril Mignot 3 collaborations
Gwenaelle Le Bouar 3 collaborations
Katrina Bell 3 collaborations
Andrea Simpson 3 collaborations
John Christodoulou 3 collaborations
Catherine Henry 3 collaborations
Cédric Le Caignec 3 collaborations
Bénédicte Nouyou 3 collaborations
Florence Demurger 3 collaborations
Tiffany Brun 2 collaborations
Jean Levêque 2 collaborations
Sonia R Grover 2 collaborations
Chloe Hanna 2 collaborations
Nathalie Rioux-Leclercq 2 collaborations
None None 2 collaborations
Antoine Buschiazzo 2 collaborations
Nicolas Bourmeyster 2 collaborations
Stéphane Dréano 2 collaborations
Laurence Cluzeau 2 collaborations
C Pimentel 2 collaborations
A S Neyroud 2 collaborations
Anne-Sophie Cabaret-Dufour 2 collaborations
Marina Yefimova 2 collaborations
Nathalie Dejucq-Rainsford 2 collaborations
Marion Lesieur-Sebellin 2 collaborations
Bérénice Herve 2 collaborations
Nicolas Bourgon 2 collaborations
Françoise Devillard 2 collaborations
Carole Goumy 2 collaborations
Martine Doco-Fenzy 2 collaborations
Marlène Rio 2 collaborations
Jeanne Amiel 2 collaborations
Valentine Marquet 2 collaborations
Benjamin Dauriat 2 collaborations
Kamran Moradkhani 2 collaborations
Bertrand Isidor 2 collaborations
Guillaume Jedraszak 2 collaborations
Céline Pebrel-Richard 2 collaborations
Gaëlle Salaun 2 collaborations
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Maia Proisy 2 collaborations
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Isis Carton 2 collaborations
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Maud Bidet 2 collaborations
Chloé Quelin 2 collaborations
Caroline Rooryck 2 collaborations
Diana Stojanovski 2 collaborations
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Gary R Hime 2 collaborations
Alinoe Lavillaureix 2 collaborations
Paul Rollier 2 collaborations
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Morgane Plutino 2 collaborations
Jacques Puechberty 2 collaborations
Jonathan Levy 2 collaborations
Gaetan Lesca 2 collaborations
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Sébastien Moutton 2 collaborations
Kenneth McElreavy 2 collaborations
Daniella H Hock 2 collaborations
David A Stroud 2 collaborations
Gwenaël Nadeau 2 collaborations
Nurin Listyasari 2 collaborations
Diane Bales 1 collaboration
Mathilde Domin 1 collaboration
Roch Houot 1 collaboration
Simon Sadedin 1 collaboration
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Romain Mathieu 1 collaboration
Gregory Verhoest 1 collaboration
Karim Bensalah 1 collaboration
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M G Yefimova 1 collaboration
C Lefevre 1 collaboration
A Bashamboo 1 collaboration
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M T Lavault 1 collaboration
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T Brun 1 collaboration
F Bonnet 1 collaboration
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L Dion 1 collaboration
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Michel C Tchan 1 collaboration
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M Fradin 1 collaboration
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P Loget 1 collaboration
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S Sun 1 collaboration
M Yefimova 1 collaboration
Ash Zawerton 1 collaboration
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Patrick R Blackburn 1 collaboration
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Shoji Ichikawa 1 collaboration
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Lucia Ortega 1 collaboration
Elizabeth J Bhoj 1 collaboration
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Marcia Willing 1 collaboration
Trevor Cole 1 collaboration
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Rhoda Akilapa 1 collaboration
Anthony Vandersteen 1 collaboration
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Patrick Rump 1 collaboration
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Keren Machol 1 collaboration
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Carlos A Bacino 1 collaboration
Xia Wang 1 collaboration
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Marta Bertoli 1 collaboration
Simon Zwolinski 1 collaboration
Rhys H Thomas 1 collaboration
Ela Akay 1 collaboration
Richard C Chang 1 collaboration
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Myriam Srour 1 collaboration
Laura Russell 1 collaboration
Anne-Marie E Goyette 1 collaboration
Lucie Dupuis 1 collaboration
Roberto Mendoza-Londono 1 collaboration
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Maries Joseph 1 collaboration
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Alma Kuechler 1 collaboration
Amélie Piton 1 collaboration
Eric W Klee 1 collaboration
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Karl J Clark 1 collaboration
Christel Depienne 1 collaboration
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Anu Bashamboo 1 collaboration
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Melanie Fradin 1 collaboration
Chloe Quelin 1 collaboration
Paul Sauleau 1 collaboration
Marie-Christine Minot 1 collaboration
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Gilles Edan 1 collaboration
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Caroline Rivera 1 collaboration
Marcel Dahan 1 collaboration
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Alain Rind 1 collaboration
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Megan J Baker 1 collaboration
Julia T Warren 1 collaboration
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Paul Coppo 1 collaboration
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Alison G Compton 1 collaboration
Sumudu S C Amarasekera 1 collaboration
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M Roche 1 collaboration
M Domin 1 collaboration
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Nicolas Chatron 1 collaboration
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Claire Bardel 1 collaboration
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Patrick Callier 1 collaboration
Patrick Collignon 1 collaboration
Marie-Pierre Cordier 1 collaboration
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Jean-Michel Dupont 1 collaboration
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Alain Verloes 1 collaboration
Patrick Edery 1 collaboration
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Adélie Perrot 1 collaboration
Anne-Sophie Leborgne 1 collaboration
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Wilfrid Carre 1 collaboration
Kelly Walton 1 collaboration
William A Stocker 1 collaboration
Craig Harrisson 1 collaboration
Tiina Jääskeläinen 1 collaboration
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Anne-Pascale Satié 1 collaboration
Claude Bendavid 1 collaboration
Laurence Cornevin 1 collaboration
F Ghieh 1 collaboration
A L Barbotin 1 collaboration
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C Hue 1 collaboration
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Zhangping Xiao 1 collaboration
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