Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

N B Tan; A T Pagnamenta; M P Ferla; J Gadian; B Hy Chung; M Cy Chan; J Lf Fung; E Cook; S Guter; F Boschann; A Heinen; J Schallner; C Mignot; B Keren; S Whalen; Catherine Sarret; D Mittag; L Demmer; R Stapleton; K Saida; N Matsumoto; N Miyake; R Sheffer; H Mor-Shaked; C P Barnett; A B Byrne; H S Scott; A Kraus; G Cappuccio; N Brunetti-Pierri; R Iorio; F Di Dato; L S Pais; A yeung; T y Tan; J C Taylor; J Christodoulou; S M White

doi:10.1136/jmedgenet-2020-107462

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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

N B Tan A T Pagnamenta M P Ferla J Gadian B Hy Chung M Cy Chan J Lf Fung E Cook S Guter F Boschann A Heinen J Schallner C Mignot B Keren S Whalen Catherine Sarret ¹ D Mittag L Demmer R Stapleton K Saida N Matsumoto N Miyake R Sheffer H Mor-Shaked C P Barnett A B Byrne H S Scott A Kraus G Cappuccio N Brunetti-Pierri R Iorio F Di Dato L S Pais A yeung T y Tan J C Taylor J Christodoulou S M White

1 IP - Institut Pascal

N B Tan
Author

A T Pagnamenta
Author

M P Ferla
Author

J Gadian
Author

B Hy Chung
Author

M Cy Chan
Author

J Lf Fung
Author

E Cook
Author

S Guter
Author

F Boschann
Author

A Heinen
Author

J Schallner
Author

C Mignot
Author

B Keren
Author

S Whalen
Author

Catherine Sarret ¹
Author
PersonId : 21912
IdHAL : catherine-sarretIdRef : 10937441X

D Mittag
Author

L Demmer
Author

R Stapleton
Author

K Saida
Author

N Matsumoto
Author

N Miyake
Author

R Sheffer
Author

H Mor-Shaked
Author

C P Barnett
Author

A B Byrne
Author

H S Scott
Author

A Kraus
Author

G Cappuccio
Author

N Brunetti-Pierri
Author

R Iorio
Author

F Di Dato
Author

L S Pais
Author

A yeung
Author

T y Tan
Author

J C Taylor
Author

J Christodoulou
Author

S M White
Author

1 IP - Institut Pascal (Campus Universitaire des Cézeaux, 4 avenue Blaise Pascal, TSA 60026 / CS 60026, 63178 Aubière Cedex - France) StructId : 1063693

CNRS - Centre National de la Recherche Scientifique : UMR6602 (France) StructId : 441569
UCA - Université Clermont Auvergne : UMR6602 (49, bd François-Mitterrand / CS 60032 / 63001 Clermont-Ferrand Cedex 1 - France) StructId : 1063463
INP Clermont Auvergne - Institut national polytechnique Clermont Auvergne : UMR6602 (France) StructId : 1063539
- UCA - Université Clermont Auvergne (49, bd François-Mitterrand / CS 60032 / 63001 Clermont-Ferrand Cedex 1 - France) StructId : 1063463

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Neurons and Cognition [q-bio.NC]

Complete list of metadata

https://hal.uca.fr/hal-03602370
Contributor : Christophe Tournayre Connect in order to contact the contributor
Submitted on : Wednesday, March 9, 2022 - 9:43:55 AM
Last modification on : Friday, April 1, 2022 - 3:54:59 AM

Identifiers

HAL Id : hal-03602370, version 1
DOI : 10.1136/jmedgenet-2020-107462

Collections

PRES_CLERMONT | CNRS | INSTITUT_PASCAL | CLERMONT-AUVERGNE-INP

Citation

N B Tan, A T Pagnamenta, M P Ferla, J Gadian, B Hy Chung, et al.. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Journal of Medical Genetics, BMJ Publishing Group, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩. ⟨hal-03602370⟩

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

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