Sophie Nambot (S Nambot)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 21

Top Venues

Clinical genetics

European journal of human genetics : EJHG

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

Research square

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

Publications

Eleonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian, Meriem Yousfi, Dominique Salvi, Elodie Gautier, Antonio Vitobello, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Anne Faudet, Boris Keren, Audrey Labalme, Nicolas Chatron, Carine Abel, Sophie Dupuis-Girod, Alice Poisson, Julien Buratti, Cyril Mignot, Alexandra Afenjar, Sandra Whalen, Perrine Charles, Solveig Heide, Linda Mouthon, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Anne-Sophie Briffaut, Marie-Laure Asensio, Christophe Philippe, Christel Thauvin-Robinet, Delphine Héron, Massimiliano Rossi, Nicolas Meunier-Bellard, Marcela Gargiulo, Christine Peyron, Christine Binquet, Laurence Olivier-Faivre
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics 105 (5) (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics 105 (5) (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics 105 (5) (2024)
Eleonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian, Meriem Yousfi, Dominique Salvi, Elodie Gautier, Antonio Vitobello, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Anne Faudet, Boris Keren, Audrey Labalme, Nicolas Chatron, Carine Abel, Sophie Dupuis-Girod, Alice Poisson, Julien Buratti, Cyril Mignot, Alexandra Afenjar, Sandra Whalen, Perrine Charles, Solveig Heide, Linda Mouthon, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Anne-Sophie Briffaut, Marie-Laure Asensio, Christophe Philippe, Christel Thauvin-Robinet, Delphine Héron, Massimiliano Rossi, Nicolas Meunier-Bellard, Marcela Gargiulo, Christine Peyron, Christine Binquet, Laurence Olivier-Faivre
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG 32 (9) (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics 105 (5) (2024)
David Picketts, Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin, Stephan Collins, Alban Ziegler, Emily Pao, Nora Oyama, Elise Brischoux-Boucher, Juliette Piard, Kristin Monaghan, Maria Guillen Sacoto, William B Dobyns, Kristen L Park, Daniel Fernández-Mayoralas, Alberto Fernández Jaén, Parul Jayakar, Alfredo Brusco, Vincenzo Antona, Elisa Giorgio, Malin Kvarnung, Bertrand Isidor, Solène Conrad, Benjamin Cogné, Wallid Deb, K E Stuurman, Katalin Sterbova, Noor Smal, Sarah Weckhuysen, Renske Oegema, A Micheil Innes, Maeson Latsko, Tawfeg Ben-Omran, Rebecca Yeh, Michael C Kruer, Somayeh Bakhtiari, Antigone Papavasiliou, Sébastien Moutton, Sophie Nambot, Sirisak Chanprasert, Sarah Paolucci, Kait Miller, Barbara Burton, Katherine Kim, Emily O'Heir, Zandre Bruwer, Kirsten Ann Donald, Tjitske Kleefstra, Amy Goldstein, Brad Angle, Kelly Bontempo, Peter Miny, Pascal Joset, Florence Demurger, Emma Hobson, Lewis Pang, Lori Carpenter, Dong Li, Dominique Bonneau, Bekim Sadikovic
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Research square (2023)
Laurence Faivre, Jean-Charles Crépin, Manon Reda, Sophie Nambot, Virginie Carmignac, Caroline Abadie, Tristan Mirault, Cécile Faure-Conter, Juliette Mazereeuw-Hautier, Aude Maza, Eve Puzenat, Marie-Agnès Collonge-Rame, Anne-Claire Bursztejn, Christophe Philippe, Christel Thauvin-Robinet, Martin Chevarin, Claire Abasq-Thomas, Jeanne Amiel, Stéphanie Arpin, Sébastien Barbarot, Geneviève Baujat, Didier Bessis, Emmanuelle Bourrat, Odile Boute, Nicolas Chassaing, Christine Coubes, Benedicte Demeer, Patrick Edery, Salima El Chehadeh, Alice Goldenberg, Smail Hadj-Rabia, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Daphné Lehalle, Laetitia Lambert, Ludovic Martin, Annabel Maruani, Fanny Morice-Picard, Florence Petit, Alice Phan, Lucile Pinson, Massimiliano Rossi, Renaud Touraine, Clemence Vanlerberghe, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Virginie Verkarre, Christine Devalland, Mojgan Devouassoux-Shisheboran, Marine Abad, Nathalie Rioux-Leclercq, Bertille Bonniaud, Yannis Duffourd, Jehanne Martel, Christine Binquet, Paul Kuentz, Pierre Vabres
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations. Clinical genetics (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)
Emilie Tisserant, Antonio Vitobello, Davide Callegarin, Simon Verdez, Ange-Line Bruel, Ludwig Serge Aho Glélé, Arthur Sorlin, Eleonore Viora-Dupont, Marina Konyukh, Nathalie Marle, Sophie Nambot, Sebastien 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 Olivier-Faivre, Anne-Laure Mosca-Boidron, Julien Thevenon, Yannis Duffourd, Patrick Callier
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 86 (4) (2022)
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frédéric Tran Mau Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, 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
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 30 (8) (2022)
Christopher Hakkaart, John F Pearson, Louise Marquart, Joe G Dennis, George A R Wiggins, Daniel R Barnes, Bridget A Robinson, Peter D Mace, Kristiina Aittomäki, Irene L Andrulis, Banu K Arun, Jacopo Azzollini, Judith Balmaña, Rosa B Barkardottir, Sami Belhadj, Lieke Berger, Marinus J Blok, Susanne E Boonen, Julika Borde, Angela R Bradbury, Joan Brunet, Saundra S Buys, Maria A Caligo, Ian G Campbell, Wendy K Chung, Kathleen B M Claes, null null, null null, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J Couch, Mary B Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M Domchek, Alan Donaldson, Jacqueline Eason, Douglas F Easton, Hans Ehrencrona, Christoph Engel, D Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A Gayther, Andrea Gehrig, Paul Gesta, Andrew K Godwin, David E Goldgar, Mark H Greene, Eric Hahnen, Christopher R Hake, Ute Hamann, Thomas V O Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J Hulick, Evgeny N Imyanitov, null null, null null, null null, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A James, Ramunas Janavicius, Esther M John, Joseph Vijai, Beth Y Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro Garcia, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L Mai, Siranoush Manoukian, Véronique Mari, John W M Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Ana Osorio, Claus-Eric Ott, Sue-Kyung Park, Michael T Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C Rodriguez, Karina Rønlund, Efraim H Rosenberg, Maria Rossing, Rita K Schmutzler, Payal D Shah, Saba Sharif, Priyanka Sharma, Lucy E Side, Jacques Simard, Christian F Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R Teixeira, Soo-Hwang Teo, Mads Thomassen, Darcy L Thull, Marc Tischkowitz, Amanda Ewart Toland, Alison H Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J vanRensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N Weitzel, Marijke R Wevers, Georgia Chenevix-Trench, Amanda B Spurdle, Antonis C Antoniou, Logan C Walker
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Communications biology 5 (1) (2022)
Memoona Ramzan, Christophe Philippe, Inna A Belyantseva, Yoko Nakano, Cristina Fenollar-Ferrer, Risa Tona, Rizwan Yousaf, Rasheeda Bashir, Ayesha Imtiaz, Rabia Faridi, Zunaira Munir, Hafiza Idrees, Midhat Salman, Sophie Nambot, Antonio Vitobello, Souad Kartti, Oumaima Zarrik, P Dane Witmer, Nara Lygia de Macena Sobreira, Azeddine Ibrahimi, Botond Banfi, Sebastien Moutton, Thomas B Friedman, Sadaf Naz
Variants of human CLDN9 cause mild to profound hearing loss. Human mutation 42 (10) (2021)
Fabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, Juana Beauvallet, Marie-Gabrielle Dondon, Lisa Golmard, Etienne Rouleau, Céline Garrec, Mathilde Martinez, Christine Toulas, Tan Dat Nguyen, Fanny Brayotel, Louise Crivelli, Christine M Maugard, Virginie Bubien, Nicolas Sevenet, Paul Gesta, Stéphanie Chieze-Valero, Sophie Nambot, Vincent Goussot, Véronique Mari, Cornel Popovici, Fabienne Prieur, Marie-Emmanuelle Morin-Meschin, Julie Tinat, Alain Lortholary, Hélène Dreyfus, Marie Bidart, Marie-Agnès Collonge-Rame, Monique Mozelle-Nivoix, Laurence Gladieff, Sophie Giraud, Nadia Boutry-Kryza, Jean Chiesa, Philippe Denizeau, Yves-Jean Bignon, Nancy Uhrhammer, Odile Cohen-Haguenauer, Paul Vilquin, Audrey Mailliez, Isabelle Coupier, Jean-Marc Rey, Elodie Lacaze, Odile Béra, Chrystelle Colas, Florence Coulet, Capucine Delnatte, Claude Houdayer, Christine Lasset, Jérôme Lemonnier, Michel Longy, Catherine Noguès, Dominique Stoppat-Lyonnet, Dominique Vaur, Nadine Andrieu, Olivier Caron
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing. Cancers 13 (15) (2021)
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
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Clinical genetics 98 (1) (2020)
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
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability. Clinical genetics 98 (5) (2020)
Francois Lecoquierre, Yannis Duffourd, Antonio Vitobello, Ange-Line Bruel, Benoit Urteaga, Christine Coubes, Philippine Garret, Sophie Nambot, Martin Chevarin, Thibaud Jouan, Sebastien Moutton, null null, Frédéric Tran-Mau-Them, Christophe Philippe, Arthur Sorlin, Laurence Olivier-Faivre, Christel Thauvin-Robinet
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
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, Daphne Lehalle, Sophie Nambot, Sébastien Moutton, Sylvie Odent, Sylvie Jaillard, Christele 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 Anne Rosenfeld, Keren Machol, Daryl A Scott, Carlos A Bacino, Xia Wang, Gary D Clark, Marta Bertoli, Simon Zwolinski, Rhys Huw 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, null null, Eric W Klee, Véronique Lefebvre, Karl J Clark, Christel Depienne
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 22 (3) (2019)
A T G Chiu, S L C Pei, C C Y Mak, G K C Leung, M H C Yu, S L Lee, M Vreeburg, R Pfundt, I van der Burgt, T Kleefstra, T M-T Frederic, Sophie Nambot, L Faivre, Ange-Line Bruel, M Rossi, B Isidor, Sébastien Küry, B Cogne, T Besnard, M Willems, M R F Reijnders, Brian Hon-Yin Chung
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Clinical genetics 93 (4) (2018)
Sophie Nambot, D Gavrilov, Julien Thevenon, A L Bruel, M Bainbridge, M Rio, C Goizet, A Rötig, J Jaeken, N Niu, F Xia, A Vital, N Houcinat, F Mochel, P Kuentz, D Lehalle, Y Duffourd, J B Rivière, C Thauvin-Robinet, A L Beaudet, L Faivre
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Clinical genetics 92 (2) (2017)

Sophie Nambot.css-eqlu8i{font-size:small;padding-left:4px;} (S Nambot)

Publication Activity (10 Years)

Top Topics

Top Venues

Sophie Nambot (S Nambot)