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
About this item
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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 , Lespinasse, James , Lacaze, Elodie , Molin, Arnaud , Gerard, Marion , Lambert, Laetitia , Benigni, Charlotte , Patat, Olivier , Bourgeois, Valentin , Poe, Charlotte , Chevarin, Martin , Couturier, Victor , Garret, Philippine , Philippe, Christophe , Duffourd, Yannis , Faivre, Laurence and Thauvin-Robinet, Christel
Publisher
BMJ Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
BMJ Publishing Group
Subjects
More information
Scope and Contents
Contents
Purpose Wide 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 highlig...
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
Lespinasse, James
Lacaze, Elodie
Molin, Arnaud
Gerard, Marion
Lambert, Laetitia
Benigni, Charlotte
Patat, Olivier
Bourgeois, Valentin
Poe, Charlotte
Chevarin, Martin
Couturier, Victor
Garret, Philippine
Philippe, Christophe
Duffourd, Yannis
Faivre, Laurence
Thauvin-Robinet, Christel
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04957477v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04957477v1
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg-2023-109170
