De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disab...
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
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Author / Creator
Schalk, Audrey , Cousin, Margot A , Dsouza, Nikita R , Challman, Thomas D , Wain, Karen E , Powis, Zoe , Minks, Kelly , Trimouille, Aurélien , Lasseaux, Eulalie , Lacombe, Didier , Angelini, Chloé , Michaud, Vincent , Van-Gils, Julien , Spataro, Nino , Ruiz, Anna , Gabau, Elizabeth , Stolerman, Elliot , Washington, Camerun , Louie, Ray , Lanpher, Brendan C , Kemppainen, Jennifer L , Innes, Micheil , Kooy, Frank , Meuwissen, Marije , Goldenberg, Alice , Lecoquierre, Francois , Vera, Gabriella , Diderich, Karin E M , Sheidley, Beth , El Achkar, Christelle Moufawad , Park, Meredith , Hamdan, Fadi F , Michaud, Jacques L , Lewis, Ann J , Zweier, Christiane , Reis, André , Wagner, Matias , Weigand, Heike , Journel, Hubert , Keren, Boris , Passemard, Sandrine , Mignot, Cyril , van Gassen, Koen , Brilstra, Eva H , Itzikowitz, Gina , O'Heir, Emily , Allen, Jake , Donald, Kirsten A , Korf, Bruce Richard , Skelton, Tammi , Thompson, Michelle , Robin, Nathaniel H , Rudy, Natasha L , Dobyns, William B , Foss, Kimberly , Zarate, Yuri Alexander , Bosanko, Katherine A , Alembik, Yves , Durand, Benjamin , Tran Mau-them, Frederic , Ranza, Emmanuelle , Blanc, Xavier , Antonarakis, Stylianos E , McWalter, Kirsty , Torti, Erin , Millan, Francisca , Dameron, Amy , Tokita, Mari , Zimmermann, Michael T , Klee, Eric W , Piton, Amelie and Gerard, Benedicte
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundHigh-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD).MethodsThis study describes the molecular and clinical characterisation of 28 probands with NDD harbouring heterozygous AGO1 coding variants, occurring de novo for all those whose transmission could have been...
Alternative Titles
Full title
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Authors, Artists and Contributors
Author / Creator
Cousin, Margot A
Dsouza, Nikita R
Challman, Thomas D
Wain, Karen E
Powis, Zoe
Minks, Kelly
Trimouille, Aurélien
Lasseaux, Eulalie
Lacombe, Didier
Angelini, Chloé
Michaud, Vincent
Van-Gils, Julien
Spataro, Nino
Ruiz, Anna
Gabau, Elizabeth
Stolerman, Elliot
Washington, Camerun
Louie, Ray
Lanpher, Brendan C
Kemppainen, Jennifer L
Innes, Micheil
Kooy, Frank
Meuwissen, Marije
Goldenberg, Alice
Lecoquierre, Francois
Vera, Gabriella
Diderich, Karin E M
Sheidley, Beth
El Achkar, Christelle Moufawad
Park, Meredith
Hamdan, Fadi F
Michaud, Jacques L
Lewis, Ann J
Zweier, Christiane
Reis, André
Wagner, Matias
Weigand, Heike
Journel, Hubert
Keren, Boris
Passemard, Sandrine
Mignot, Cyril
van Gassen, Koen
Brilstra, Eva H
Itzikowitz, Gina
O'Heir, Emily
Allen, Jake
Donald, Kirsten A
Korf, Bruce Richard
Skelton, Tammi
Thompson, Michelle
Robin, Nathaniel H
Rudy, Natasha L
Dobyns, William B
Foss, Kimberly
Zarate, Yuri Alexander
Bosanko, Katherine A
Alembik, Yves
Durand, Benjamin
Tran Mau-them, Frederic
Ranza, Emmanuelle
Blanc, Xavier
Antonarakis, Stylianos E
McWalter, Kirsty
Torti, Erin
Millan, Francisca
Dameron, Amy
Tokita, Mari
Zimmermann, Michael T
Klee, Eric W
Piton, Amelie
Gerard, Benedicte
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9241146
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9241146
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2021-107751
