Audrey Labalme - Serv Genet, Hosp Civils Lyon

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论文共 141 篇作者统计合作学者相似作者

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Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family with Kohlschütter-Tönz Syndrome

Miriam Essid, Sana Karoui, Mouna Zribi,Thouraya Ben Younes,Louis Januel, Estelle Lafont,Audrey Labalme,Meriem Ben Hafsa,Go Hun Seo, Safa Khatrouch,Hela Boudabous,Amel Ben Chehida,Damien Sanlaville,Houweyda Jilani, Lamia Benjemaa,Ichraf Kraoua,Gaetan Lesca,Nicolas Chatron

Clinical genetics（2025）

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Molecular and Phenotypic Characterization of the RORB-Related Disorder

Zeynep Gokce-Samar,Annalisa Vetro,Julitta De Bellescize,Tiziana Pisano,Laloe Monteiro, Noemie Penaud,Christian M. Korff,Joel Fluss,Carla Marini,Elisabetta Cesaroni,Blanca Mercedes Alvarez,Damien Sanlaville,Nicolas Chatron, Alexis A. Arzimanoglou,Audrey Labalme, Vishnu A. Cuddapah,Sarah M. Ruggiero,Francois Lecoquierre,Gael Nicolas,Guerrot Anne Marie,Axel Lebas,Herve O. Testard,Katherine L. Helbig,Anna Ruiz,Adeline Ngoh,Manju A. Kurian,Kimberley Reid,Robert Spaull,Pascal Joset,Georgia Ramantani,Katharina Steindl,Martin Krenn,Lucia Gerstl,Silvia Vieker,Dana Craiu,Manuela Pendziwiat,Chad Haldeman-Englert,Ilya Kanivets, Irina Romanova,Deepa S. Rajan,Jill A. Rosenfeld,Margaret Au,Katheryn Grand,John M. Graham Jr,Arnaud Isapof,Nathalie Villeneuve,Thomas Smol,Roseline Caumes,Pia Zacher,Sonja Neuser,Sigrid Tinschert,Konrad Platzer,Tobias Bartolomaeus, Ines Mohnke,Maximilian Radtke,Rami Abou Jamra,Ingo Helbig, Floortje E. Jansen, Klaas Koop,Gabrielle Rudolf,Sebastien Kury,Julien Courchet,Renzo Guerrini,Gaetan Lesca

NEUROLOGY（2024）

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Cas9 Target Enrichment and Nanopore Squencing to Replace Southern-blot for the Diagnosis of Progressive Mycolonic Epilepsy

Damien Sanlaville,Audrey Labalme,Louis Januel, Carole Goujon,Claire Bardel,Gaetan Lesca,Nicolas Chatron

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Idiopathic Generalized Epilepsy in a Family with SCN4A‐related Myotonia

Mariagrazia Talarico,Francesco Fortunato,Audrey Labalme,Louis Januel,Nicolas Chatron,Damien Sanlaville,Ilaria Sammarra,Monica Gagliardi,Radha Procopio,Paola Valentino,Grazia Annesi,Gaetan Lesca,Antonio Gambardella

EPILEPSIA OPENno. 3 (2024): 951-959

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Long Read Sequencing Technology to Overcome the Challenge of Regions with High Sequence Homology

Louis Januel,Audrey Labalme,Claire Bardel,Gaetan Lesca,Nicolas Chatron

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 644-644

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Expectations, Needs and Mid-Term Outcomes in People Accessing to Secondary Findings from ES: 1st French Mixed Study (FIND Study)

Eleonore Viora-Dupont, Francoise Robert,Aline Chassagne,Aurore Pelissier,Stephanie Staraci,Damien Sanlaville,Patrick Edery,Gaetan 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 Denomme-Pichon,Ange-Line Bruel,Frederic 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 Heron,Massimiliano Rossi, Nicolas Meunier-Bellard,Marcela Gargiulo,Christine Peyron,Christine Binquet,Laurence Faivre

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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Transposable Element Expression with Variation in Sex Chromosome Number Supports a Toxic Y Effect on Human Longevity

Jordan Teoli,Miriam Merenciano,Marie Fablet,Anamaria Necsulea,Daniel Siqueira-de-Oliveira, Alessandro Brandulas-Cammarata,Audrey Labalme,Hervé Lejeune,Jean-François Lemaitre,François Gueyffier,Damien Sanlaville,Claire Bardel,Cristina Vieira,Gabriel AB Marais,Ingrid Plotton

openalex（2023）

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Louis Januel,Nicolas Chatron, Clotilde Rivier-Ringenbach,Sara Cabet,Audrey Labalme,Yavuz Sahin,Hossein Darvish,Michael Kruer,Somayeh Bakhtiari,Damien Sanlaville,Jean Madeleine de Sainte Agathe,Gaetan Lesca

European Journal of Medical Genetics (2023): 104893-104893

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

Laura Mary,Delphine Leclerc,Audrey Labalme,Pascale Bellaud,Severine Mazaud-Guittot,Stephane Dreano,Bertrand Evrard, Antoine Bigand,Aurelie Cauchoix,Philippe Loget,Anna Lokchine,Laurence Cluzeau,David Gilot,Marc-Antoine Belaud-Rotureau,Sylvie Jaillard

Genes（2023）

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GRIN1 Variants Associated with Neurodevelopmental Disorders Reveal Channel Gating Pathomechanisms

Lotten Ragnarsson,Zihan Zhang,Sooraj S. Das,Poanna Tran,Asa Andersson,Vincent des Portes,Cecilia Desmettre Altuzarra,Ganaelle Remerand,Audrey Labalme,Nicolas Chatron,Damien Sanlaville,Gaetan Lesca,Victor Anggono,Irina Vetter,Angelo Keramidas

EPILEPSIAno. 12 (2023): 3377-3388

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