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Journal Articles Journal of Medical Genetics Year : 2021

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

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Audrey Schalk
  • Function : Author
Margot A Cousin
  • Function : Author
Nikita R Dsouza
  • Function : Author
Thomas D Challman
  • Function : Author
Karen E Wain
  • Function : Author
Zoe Powis
  • Function : Author
Kelly Minks
  • Function : Author
Aurélien Trimouille
  • Function : Author
Eulalie Lasseaux
  • Function : Author
Didier Lacombe
  • Function : Author
Chloé Angelini
  • Function : Author
Vincent Michaud
  • Function : Author
Julien Van-Gils
  • Function : Author
Nino Spataro
  • Function : Author
Anna Ruiz
  • Function : Author
Elizabeth Gabau
  • Function : Author
Elliot Stolerman
  • Function : Author
Camerun Washington
  • Function : Author
Ray Louie
  • Function : Author
Brendan C Lanpher
  • Function : Author
Jennifer L Kemppainen
  • Function : Author
Micheil Innes
  • Function : Author
Frank Kooy
  • Function : Author
Marije Meuwissen
  • Function : Author
Alice Goldenberg
  • Function : Author
Francois Lecoquierre
  • Function : Author
Gabriella Vera
  • Function : Author
Karin E M Diderich
  • Function : Author
Beth Sheidley
  • Function : Author
Christelle Moufawad El Achkar
  • Function : Author
Meredith Park
  • Function : Author
Fadi F Hamdan
  • Function : Author
Jacques L Michaud
  • Function : Author
Ann J Lewis
  • Function : Author
Christiane Zweier
  • Function : Author
André Reis
  • Function : Author
Matias Wagner
  • Function : Author
Heike Weigand
  • Function : Author
Hubert Journel
  • Function : Author
Boris Keren
  • Function : Author
Sandrine Passemard
  • Function : Author
Cyril Mignot
  • Function : Author
Koen van Gassen
  • Function : Author
Eva H Brilstra
  • Function : Author
Gina Itzikowitz
  • Function : Author
Emily O'Heir
  • Function : Author
Jake Allen
  • Function : Author
Kirsten A Donald
  • Function : Author
Bruce Richard Korf
  • Function : Author
Tammi Skelton
  • Function : Author
Michelle Thompson
  • Function : Author
Nathaniel H Robin
  • Function : Author
Natasha L Rudy
  • Function : Author
William B Dobyns
  • Function : Author
Kimberly Foss
  • Function : Author
Yuri Alexander Zarate
  • Function : Author
Katherine A Bosanko
  • Function : Author
Yves Alembik
  • Function : Author
Benjamin Durand
  • Function : Author
Frederic Tran Mau-Them
  • Function : Author
Emmanuelle Ranza
  • Function : Author
Xavier Blanc
  • Function : Author
Stylianos E Antonarakis
  • Function : Author
Kirsty Mcwalter
  • Function : Author
Erin Torti
  • Function : Author
Francisca Millan
  • Function : Author
Amy Dameron
  • Function : Author
Mari Tokita
  • Function : Author
Michael T Zimmermann
  • Function : Author
Eric W Klee
  • Function : Author
Bénédicte Gerard
  • Function : Author

Abstract

High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD).
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Dates and versions

hal-03697474 , version 1 (21-11-2022)

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Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, et al.. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.. Journal of Medical Genetics, 2021, ⟨10.1136/jmedgenet-2021-107751⟩. ⟨hal-03697474⟩
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