Haploinsuffiency of ARFGEF1 is associated with developmental delay, intellectual disability and epilepsy with variable expressivity

Q Thomas; T Gauthier; D Marafi; T Bernard; M Willems; S Moutton; B Isidor; B Cogné; S Conrad; R Tenconi; M Iascone; A Sorlin; A Masurel; T Dabir; S Banka; J Delanne; JR Lupski; NW Saadi; FS Alkuraya; F Al Zahrani; JE Posey; L Burglen; D Rodriguez; M Chevarin; FT Mau-Them; Y Duffourd; P Garret; AL Bruel; P Callier; N Marle; AS Denomme-Pichon; L Duplomb; C Philippe; C Thauvin-Robinet; J Govin; L Faivre; A Vitobello

Haploinsuffiency of ARFGEF1 is associated with developmental delay, intellectual disability and epilepsy with variable expressivity

Q Thomas
, T Gauthier
, D Marafi
, T Bernard
, M Willems
, S Moutton
, B Isidor
, B Cogné
, S Conrad
, R Tenconi
, M Iascone
, A Sorlin
, A Masurel
, T Dabir
, S Banka
, J Delanne
, JR Lupski
, NW Saadi
, FS Alkuraya
, F Al Zahrani

JE Posey, L Burglen, D Rodriguez, M Chevarin, FT Mau-Them, Y Duffourd, P Garret, AL Bruel, P Callier, N Marle, AS Denomme-Pichon, L Duplomb, C Philippe, C Thauvin-Robinet, J Govin, L Faivre, A Vitobello

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Pages (from-to)	229-230
Number of pages	2
Journal	European Journal of Human Genetics
Volume	30
Issue number	SUPPL 1
Publication status	Published - Apr 2022

Cite this

Thomas, Q., Gauthier, T., Marafi, D., Bernard, T., Willems, M., Moutton, S., Isidor, B., Cogné, B., Conrad, S., Tenconi, R., Iascone, M., Sorlin, A., Masurel, A., Dabir, T., Banka, S., Delanne, J., Lupski, JR., Saadi, NW., Alkuraya, FS., ... Vitobello, A. (2022). Haploinsuffiency of ARFGEF1 is associated with developmental delay, intellectual disability and epilepsy with variable expressivity. European Journal of Human Genetics, 30(SUPPL 1), 229-230.

@article{76844c267e17420a8bf67906c751fece,

title = "Haploinsuffiency of ARFGEF1 is associated with developmental delay, intellectual disability and epilepsy with variable expressivity",

author = "Q Thomas and T Gauthier and D Marafi and T Bernard and M Willems and S Moutton and B Isidor and B Cogn{\'e} and S Conrad and R Tenconi and M Iascone and A Sorlin and A Masurel and T Dabir and S Banka and J Delanne and JR Lupski and NW Saadi and FS Alkuraya and \{Al Zahrani\}, F and JE Posey and L Burglen and D Rodriguez and M Chevarin and FT Mau-Them and Y Duffourd and P Garret and AL Bruel and P Callier and N Marle and AS Denomme-Pichon and L Duplomb and C Philippe and C Thauvin-Robinet and J Govin and L Faivre and A Vitobello",

year = "2022",

month = apr,

language = "English",

volume = "30",

pages = "229--230",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "SUPPL 1",

}

Thomas, Q, Gauthier, T, Marafi, D, Bernard, T, Willems, M, Moutton, S, Isidor, B, Cogné, B, Conrad, S, Tenconi, R, Iascone, M, Sorlin, A, Masurel, A, Dabir, T, Banka, S, Delanne, J, Lupski, JR, Saadi, NW, Alkuraya, FS, Al Zahrani, F, Posey, JE, Burglen, L, Rodriguez, D, Chevarin, M, Mau-Them, FT, Duffourd, Y, Garret, P, Bruel, AL, Callier, P, Marle, N, Denomme-Pichon, AS, Duplomb, L, Philippe, C, Thauvin-Robinet, C, Govin, J, Faivre, L & Vitobello, A 2022, 'Haploinsuffiency of ARFGEF1 is associated with developmental delay, intellectual disability and epilepsy with variable expressivity', European Journal of Human Genetics, vol. 30, no. SUPPL 1, pp. 229-230.

TY - JOUR

T1 - Haploinsuffiency of ARFGEF1 is associated with developmental delay, intellectual disability and epilepsy with variable expressivity

AU - Thomas, Q

AU - Gauthier, T

AU - Marafi, D

AU - Bernard, T

AU - Willems, M

AU - Moutton, S

AU - Isidor, B

AU - Cogné, B

AU - Conrad, S

AU - Tenconi, R

AU - Iascone, M

AU - Sorlin, A

AU - Masurel, A

AU - Dabir, T

AU - Banka, S

AU - Delanne, J

AU - Lupski, JR

AU - Saadi, NW

AU - Alkuraya, FS

AU - Al Zahrani, F

AU - Posey, JE

AU - Burglen, L

AU - Rodriguez, D

AU - Chevarin, M

AU - Mau-Them, FT

AU - Duffourd, Y

AU - Garret, P

AU - Bruel, AL

AU - Callier, P

AU - Marle, N

AU - Denomme-Pichon, AS

AU - Duplomb, L

AU - Philippe, C

AU - Thauvin-Robinet, C

AU - Govin, J

AU - Faivre, L

AU - Vitobello, A

PY - 2022/4

Y1 - 2022/4

UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000779367701075&DestLinkType=FullRecord&DestApp=WOS

M3 - Meeting Abstract

SN - 1018-4813

VL - 30

SP - 229

EP - 230

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - SUPPL 1

ER -

Haploinsuffiency of <i>ARFGEF1</i> is associated with developmental delay, intellectual disability and epilepsy with variable expressivity

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