Lyse Ruaud

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 25

Top Venues

European journal of human genetics : EJHG

Proceedings of the National Academy of Sciences of the United States of America

Genes

Clinical genetics

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

Publications

Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Groeschel Samuel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Anna Gerasimenko, Cyril Mignot, Olivier Naggara, Florence Coulet, Samar Ekram, Solveig Heide, Clarisse Sorato, Maxime Mazowiecki, Laurence Perrin, Chrystelle Colas, Veronica Cusin, Frédéric Caux, Antoine Dardenne, Salima El Chehadeh, Alain Verloes, Hélène Maurey, Alexandra Afenjar, Florence Petit, Stéphane Barete, Odile Boespflug-Tanguy, Emmanuelle Bourrat, Yline Capri, Viorica Ciorna, Wallid Deb, Diane Doummar, Alexandre Perrier, Alexis Guédon, Emmanuel Houdart, Bertrand Isidor, Marie-Line Jacquemont, Camille Buffet, Sandra Mercier, Sandrine Passemard, Audrey Riquet, Lyse Ruaud, Elise Schaefer, Delphine Heron, Annouk Bisdorff, Patrick R Benusiglio
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome. Clinical genetics 106 (1) (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG 32 (9) (2024)
Anna Gerasimenko, Cyril Mignot, Olivier Naggara, Florence Coulet, Samar Ekram, Solveig Heide, Clarisse Sorato, Maxime Mazowiecki, Laurence Perrin, Chrystelle Colas, Veronica Cusin, Frédéric Caux, Antoine Dardenne, Salima El Chehadeh, Alain Verloes, Hélène Maurey, Alexandra Afenjar, Florence Petit, Stéphane Barete, Odile Boespflug-Tanguy, Emmanuelle Bourrat, Yline Capri, Viorica Ciorna, Wallid Deb, Diane Doummar, Alexandre Perrier, Alexis Guédon, Emmanuel Houdart, Bertrand Isidor, Marie-Line Jacquemont, Camille Buffet, Sandra Mercier, Sandrine Passemard, Audrey Riquet, Lyse Ruaud, Elise Schaefer, Delphine Heron, Annouk Bisdorff, Patrick R Benusiglio
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome. Clinical genetics (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Groeschel Samuel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proceedings of the National Academy of Sciences of the United States of America 120 (9) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proceedings of the National Academy of Sciences of the United States of America 120 (9) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proceedings of the National Academy of Sciences of the United States of America 120 (9) (2023)
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proceedings of the National Academy of Sciences of the United States of America 120 (9) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Lyse Ruaud, Nathalie Roux, Lucile Boutaud, Bettina Bessières, Faustine Ageorges, Amale Achaiaa, Christine Bole, Patrick Nitschke, Cécile Masson, Michel Vekemans, Alain Verloes, Tania Attie-Bitach
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. Birth defects research 114 (10) (2022)
Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Maillard, Cécile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga O Glazunova, Lena Damaj, Valérie Layet, Chloé Quelin, Brigitte Gilbert-Dussardier, Frédérique Audic, Hélène Dollfus, Anne-Marie Guerrot, James Lespinasse, Sophie Julia, Marie-Christine Vantyghem, Magali Drouard, Marilyn Lackmy, Bruno Leheup, Yves Alembik, Alexia Lemaire, Patrick Nitschké, Florence Petit, Anne Dieux Coeslier, Eugénie Mutez, Alain Taieb, Mélanie Fradin, Yline Capri, Hala Nasser, Lyse Ruaud, Benjamin Dauriat, Sylvie Bourthoumieu, David Geneviève, Séverine Audebert-Bellanger, Mathilde Nizon, Radka Stoeva, Geoffroy Hickman, Gaël Nicolas, Juliette Mazereeuw-Hautier, Arnaud Jannic, Salah Ferkal, Béatrice Parfait, Michel Vidaud, null Members Of The Nf France Network, Pierre Wolkenstein, Éric Pasmant
Severe Phenotype in Patients with Large Deletions of NF1. Cancers 13 (12) (2021)
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
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder. Clinical genetics 100 (4) (2021)
Lyse Ruaud, Boris Keren, Rabab Debs, Cyril Mignot, Fanny Mochel
Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant. Muscle & nerve 63 (5) (2021)
Lyse Ruaud, Séverine Drunat, Monique Elmaleh-Bergès, Anais Ernault, Sophie Guilmin-Crépon, null null, Vincent El Ghouzzi, Stėphane Auvin, Alain Verloes, Sandrine Passemard
Neurological outcome in WDR62 primary microcephaly. Developmental medicine and child neurology 64 (4) (2021)
Nicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, Hélène Deleersnyder, Faustine Ageorges, Jennifer Gallard, Didier Lacombe, Sylvie Odent, Myriam Mikaty, Sylvie Manouvrier-Hanu, Jamal Ghoumid, David Geneviève, Natacha Lehman, Nicole Philip, Patrick Edery, Delphine Héron, Coralie Rastel, Sophie Chancenotte, Christel Thauvin-Robinet, Laurence Faivre, Laurence Perrin, Alain Verloes
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort. Clinical genetics 99 (4) (2021)
Judith Halewa, Sylviane Marouillat, Manon Dixneuf, Rose-Anne Thépault, Dévina C Ung, Nicolas Chatron, Bénédicte Gérard, Jamal Ghoumid, Gaëtan Lesca, Marianne Till, Thomas Smol, Nathalie Couque, Lyse Ruaud, Valérie Chune, Sarah Grotto, Alain Verloes, Marie-Laure Vuillaume, Annick Toutain, Martine Raynaud, Frederic Laumonnier
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. Human mutation 42 (7) (2021)
Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Paul Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William B Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Human mutation 39 (8) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Lyse Ruaud