Julian Delanne

ORCID

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 8

Top Venues

Clinical genetics

Journal of medical genetics

Annals of human genetics

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

Publications

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)
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)
Caroline Racine, Anne Sophie Denommé-Pichon, Camille Engel, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Hana Safraou, Arthur Sorlin, Sophie Nambot, Julian Delanne, Aurore Garde, Estelle Colin, Sébastien Moutton, Julien Thevenon, Nolwenn Jean-Marçais, Marjolaine Willems, David Geneviève, Lucile Pinson, Laurence Perrin, Fanny Laffargue, James Lespinasse, Elodie Lacaze, Arnaud Molin, Marion Gerard, Laetitia Lambert, Charlotte Benigni, Olivier Patat, null null, Valentin Bourgeois, Charlotte Poe, Martin Chevarin, Victor Couturier, Philippine Garret, Christophe Philippe, Yannis Duffourd, Laurence Olivier-Faivre, Christel Thauvin-Robinet
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases. Journal of medical genetics (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)
Quentin Thomas, Antonio Vitobello, Frederic Tran Mau-Them, Yannis Duffourd, Agnès Fromont, Maurice Giroud, Benoit Daubail, Agnès Jacquin-Piques, Marie Hervieu-Begue, Thibault Moreau, Guy-Victor Osseby, Philippine Garret, Sophie Nambot, Julian Delanne, Ange-Line Bruel, Arthur Sorlin, Patrick Callier, Anne-Sophie Denomme-Pichon, Laurence Olivier-Faivre, Yannick Béjot, Christophe Philippe, Christel Thauvin-Robinet, Sébastien Moutton
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. Journal of medical genetics (2021)

Julian Delanne.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Julian Delanne