Mélanie Fradin

ORCID

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 13

Top Venues

European journal of human genetics : EJHG

Human genetics

Brain : a journal of neurology

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

Publications

Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (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
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human 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, 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)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (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)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (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)
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda McNiven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben Zeev, Simranpreet Kaur, John Chrisodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke Steensjerre Moller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology (2023)

Mélanie Fradin.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Mélanie Fradin