Laurent Pasquier (L Pasquier)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 22

Top Venues

European journal of human genetics : EJHG

Science (New York, N.Y.)

Clinical genetics

Neurology. Genetics

Centre Hospitalier Universitaire de Rennes

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Centre Hospitalier Universitaire de Rennes May 02 2002

France

MD :: Clinical Genetic

Publications

Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Laurent Pasquier, Maryn Reyneke, Lauranne Beeckman, Maria Siermann, Eva Van Steijvoort, Pascal Borry
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review. European journal of human genetics : EJHG (2023)
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan Sami Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Silvio 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, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah J 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 L Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha Saad Zaki, Federizo Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG (2023)
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine Audebert-Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noëlle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chatron, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne Sophie Denommé-Pichon, Christel Depienne, Anne Dieux, Christele Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Genevieve, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Maximin Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean-Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Veronique Pingault, Amelie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quélin, Sylvia Quemener-Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale Saugier-Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frédéric Tran Mau Them, Aurélien Trimouille, Julien Van Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European journal of human genetics : EJHG (2023)
Cheryl A Shoubridge, Tracy Dudding-Byth, Laurent Pasquier, Himanshu Goel, Patrick Yap, Vivienne McConnell
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain. Clinical genetics 102 (1) (2022)
Amicia Phillips, Thomas Bronselaer, Pascal Borry, Nozomi Mizushima, Danya F Vears, Laurent Pasquier, Stefaan Callens
Informing relatives of their genetic risk: an examination of the Belgian legal context. European journal of human genetics : EJHG 30 (7) (2022)
Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report. Pediatric dermatology 39 (3) (2022)
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-Auge, 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, Sebastien 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
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 (2021)
Laurent Pasquier, Guy Minguet, Sylvie Moisdon-Chataigner, Pascal Jarno, Philippe Denizeau, Ginette Volf, Sylvie Odent, Grégoire Moutel
How do non-geneticist physicians deal with genetic tests? A qualitative analysis. European journal of human genetics : EJHG (2021)
Auriane Cospain, Elise Schaefer, Marie Faoucher, Christèle Dubourg, Wilfrid Carré, Varoona Bizaoui, Jessica Assoumani, Lionel Van Maldergem, Amélie Piton, Bénédicte Gérard, Frédéric Tran Mau-Them, Ange-Line Bruel, Laurence Faivre, Florence Demurger, Laurent Pasquier, Sylvie Odent, Mélanie Fradin, Alinoë Lavillaureix
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype. Clinical genetics 99 (5) (2021)
Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jerôme Thiry, Claire Josse, Aimé Lumaka, Elise Brischoux-Boucher, Christèle Dubourg, Véronique David, Laurent Pasquier, Anna Lehman, Karine Morcel, Daniel Guerrier, Vincent Bours
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. Clinical genetics 98 (2) (2020)
Bertrand Isidor, Sophie Julia, Pascale Saugier-Veber, Paul-Loup Weil-Dubuc, Stephane Bezieau, Eric Bieth, Jean-Paul Bonnefont, Arnold Munnich, Franck Bourdeaut, Catherine Bourgain, Nicolas Chassaing, Nadège Corradini, Damien Haye, Julie Plaisancie, Delphine Dupin-Deguine, Patrick Calvas, Cyril Mignot, Benjamin Cogné, Sylvie Manouvrier, Laurent Pasquier, Delphine Héron, Kym M Boycott, Mauro Turrini, Danya F Vears, Mathilde Nizon, Marie Vincent
Searching for secondary findings: considering actionability and preserving the right not to know. European journal of human genetics : EJHG 27 (10) (2019)
Laurent Pasquier, Bertrand Isidor, Emmanuelle Rial-Sebbag, Sylvie Odent, Guy Minguet, Grégoire Moutel
Population genetic screening: current issues in a European country. European journal of human genetics : EJHG 27 (9) (2019)
Sarah Baer, A Afenjar, T Smol, A Piton, B Gérard, Y Alembik, Thierry Bienvenu, G Boursier, O Boute, C Colson, M-P Cordier, V Cormier-Daire, B Delobel, M Doco-Fenzy, B Duban-Bedu, M Fradin, D Geneviève, A Goldenberg, M Grelet, D Haye, D Heron, B Isidor, B Keren, D Lacombe, A-S Lèbre, G Lesca, A Masurel, M Mathieu-Dramard, C Nava, Laurent Pasquier, A Petit, N Philip, Juliette Piard, S Rondeau, P Saugier-Veber, S Sukno, J Thevenon, J Van-Gils, C Vincent-Delorme, M Willems, E Schaefer, G Morin
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Clinical genetics 94 (1) (2018)
E Chérot, B Keren, C Dubourg, W Carré, M Fradin, A Lavillaureix, A Afenjar, L Burglen, S Whalen, P Charles, I Marey, S Heide, A Jacquette, D Heron, D Doummar, D Rodriguez, T Billette de Villemeur, M-L Moutard, A Guët, J Xavier, D Périsse, D Cohen, F Demurger, C Quélin, C Depienne, S Odent, C Nava, V David, Laurent Pasquier, C Mignot
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Clinical genetics 93 (3) (2017)

Laurent Pasquier.css-eqlu8i{font-size:small;padding-left:4px;} (L Pasquier)

Publication Activity (10 Years)

Top Topics

Top Venues

Laurent Pasquier (L Pasquier)