Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5%...
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
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Author / Creator
Racine, Caroline , Denommé-Pichon, Anne-Sophie , Engel, Camille , Tran Mau-them, Frederic , Bruel, Ange-Line , Vitobello, Antonio , Safraou, Hana , Sorlin, Arthur , Nambot, Sophie , Delanne, Julian , Garde, Aurore , Colin, Estelle , Moutton, Sébastien , Thevenon, Julien , Jean-Marçais, Nolwenn , Willems, Marjolaine , Geneviève, David , Pinson, Lucile , Perrin, Laurence , Laffargue, Fanny , Lacaze, Elodie , Molin, Arnaud , Gerard, Marion , Lambert, Laetitia , Benigni, Charlotte , Patat, Olivier , Bourgeois, Valentin , Poe, Charlotte , Chevarin, Martin , Couturier, Victor , Philippe, Christophe , Duffourd, Yannis , Faivre, Laurence , Thauvin-Robinet, Christel , Verloes, Alain , Goldenberg, Alice , Masurel, Alice , Vincent, Aline , Frances-Guidet, Anne-Marie , Laudier, Béatrice , Demeer, Bénédicte , Funalot, Benoit , Doray, Bérénice , Gilbert-Dussardier, Brigitte , Leheup, Bruno , Poirsier, Céline , Dubucs, Charlotte , Chiaverini, Christine , Coubes, Christine , Francannet, Christine , Colson, Cindy , Bansept, Claire , Wells, Constance , Goizet, Cyril , Mignot, Cyril , Amram, Daniel , Amsallem, Daniel , Lacombe, Didier , Martin-Coignard, Dominique , Schaefer, Elise , Guiliano, Fabienne , Prieur, Fabienne , Petit, Florence , Riccardi, Florence , Meloni, Francesca , Feillet, François , Guyader, Gwenael Le , Journel, Hubert , Coupier, Isabelle , Maystadt, Isabelle , Alessandri, Jean-Luc , Ruaud, Lyse , Jacquemont, Marie-Line , Bonnet-Dupeyron, Marie Noëlle , Lebrun, Marine , Spodenkiewicz, Marta , Renaud, Mathilde , Grelet, Maude , Chassaing, Nicolas , Philip, Nicole , Boute, Odile , Pujol, Pascal , Blanchet, Patricia , Kien, Philippe Khau Van , Parent, Philippe , Vabres, Pierre , Touraine, Renaud , Caumes, Roseline , Sigaudy, Sabine , Whalen, Sandra , Passemard, Sandrine , Grotto, Sarah , Bellanger, Séverine Audebert , Julia, Sophie , Bertrand, Thierry Lavabre , Busa, Tiffany , Layet, Valérie , Bizaoui, Varoona , Trujillo, Yaumara Perdomo , Capri, Yline and Orphanomix Physician's Group
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
PurposeWide access to clinical exome/genome sequencing (ES/GS) enables the identification of multiple molecular diagnoses (MMDs), being a long-standing but underestimated concept, defined by two or more causal loci implicated in the phenotype of an individual with a rare disease. Only few series report MMDs rates (1.8% to 7.1%). This study highligh...
Alternative Titles
Full title
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
Authors, Artists and Contributors
Author / Creator
Denommé-Pichon, Anne-Sophie
Engel, Camille
Tran Mau-them, Frederic
Bruel, Ange-Line
Vitobello, Antonio
Safraou, Hana
Sorlin, Arthur
Nambot, Sophie
Delanne, Julian
Garde, Aurore
Colin, Estelle
Moutton, Sébastien
Thevenon, Julien
Jean-Marçais, Nolwenn
Willems, Marjolaine
Geneviève, David
Pinson, Lucile
Perrin, Laurence
Laffargue, Fanny
Lacaze, Elodie
Molin, Arnaud
Gerard, Marion
Lambert, Laetitia
Benigni, Charlotte
Patat, Olivier
Bourgeois, Valentin
Poe, Charlotte
Chevarin, Martin
Couturier, Victor
Philippe, Christophe
Duffourd, Yannis
Faivre, Laurence
Thauvin-Robinet, Christel
Verloes, Alain
Goldenberg, Alice
Masurel, Alice
Vincent, Aline
Frances-Guidet, Anne-Marie
Laudier, Béatrice
Demeer, Bénédicte
Funalot, Benoit
Doray, Bérénice
Gilbert-Dussardier, Brigitte
Leheup, Bruno
Poirsier, Céline
Dubucs, Charlotte
Chiaverini, Christine
Coubes, Christine
Francannet, Christine
Colson, Cindy
Bansept, Claire
Wells, Constance
Goizet, Cyril
Mignot, Cyril
Amram, Daniel
Amsallem, Daniel
Lacombe, Didier
Martin-Coignard, Dominique
Schaefer, Elise
Guiliano, Fabienne
Prieur, Fabienne
Petit, Florence
Riccardi, Florence
Meloni, Francesca
Feillet, François
Guyader, Gwenael Le
Journel, Hubert
Coupier, Isabelle
Maystadt, Isabelle
Alessandri, Jean-Luc
Ruaud, Lyse
Jacquemont, Marie-Line
Bonnet-Dupeyron, Marie Noëlle
Lebrun, Marine
Spodenkiewicz, Marta
Renaud, Mathilde
Grelet, Maude
Chassaing, Nicolas
Philip, Nicole
Boute, Odile
Pujol, Pascal
Blanchet, Patricia
Kien, Philippe Khau Van
Parent, Philippe
Vabres, Pierre
Touraine, Renaud
Caumes, Roseline
Sigaudy, Sabine
Whalen, Sandra
Passemard, Sandrine
Grotto, Sarah
Bellanger, Séverine Audebert
Julia, Sophie
Bertrand, Thierry Lavabre
Busa, Tiffany
Layet, Valérie
Bizaoui, Varoona
Trujillo, Yaumara Perdomo
Capri, Yline
Orphanomix Physician's Group
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04453149v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04453149v1
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg-2023-109170
