Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Adams, DR; Alejandro, ME; Allard, P; Azamian, MS; Bacino, CA; Balasubramanyam, A; Barseghyan, H; Batzli, GF; Beggs, AH; Behnam, B; Bican, A; Bick, DP; Birch, CL; Bonner, D; Boone, BE; Bostwick, BL; Briere, LC; Brooks, Alice; Brown, DM; Brush, M; Buckley, MF; Burke, EA; Burrage, LC; Campeau, PM; Caro-Llopis, A; Chen, S; Cho, M T; Clark, GD; Coakley, TR; Cogan, JD; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P; Davids, M; Dayal, JG; Dell'Angelica, EC; Dhar, SU; Dillon, A; Dipple, KM; Donnell-Fink, LA; Dorrani, N; Dorset, DC; Douine, ED; Draper, DD; Eckstein, DJ; Ehresmann, S; Emrick, LT; Eng, CM; Eskin, A; Esteves, C; Estwick, T; Faivre, L; Ferreira, C; Fiala, E; Fogel, BL; Friedman, ND; Gahl, WA; Garcia, T; Glanton, E; Godfrey, RA; Goldstein, DB; Gould, SE; Gourdine, JPF; Groden, CA; Gropman, AL; Haendel, M; Hamid, R; Hanchard, NA; Handley, LH; Herzog, MR; Hofstede, FC; Holm, IA; Hom, J; Howerton, EM; Huang, Y; Jacob, HJ; Jain, M; Jiang, YH; Johnston, JM; Jones, AL; Jones, WD; Kleefstra, T; Kohane, IS; Krantz, ID; Krasnewich, DM; Krieg, EL; Krier, JB; Lachlan, K; Lalani; Lalani, SR; Lau, CC; Lazar, J; Lee, BH; Lee, H; Levy, SE; Lewis, RA; Lincoln, SA; Lipson, A; Loo, SK; Loscalzo, J; Maas, RL; Machol, K; Macnamara, EF; MacRae, CA; Madan-Khetarpal, S; Maduro, VV; Majcherska, MM; Malicdan, MCV; Mamounas, LA; Manolio, TA; Markello, TC; Marom, R; Martinez, F; Martinez-Agosto, JA; Marwaha, S; Maurel, A; May, T; McConkie-Rosell, A; McCormack, CE; McCray, AT; McLaughlin, H; Might, M; Monfort, S; Moretti, PM; Morimoto, M; Mulvihill, JJ; Murphy, JL; Muzny, DM; Nehrebecky, ME; Nelson, SF; Newberry, JS; Newman, JH; Nguyen, TTM; Nicholas, SK; Nixon, CY; Novacic, D; Orange, JS; Orellana, C; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Pena, LDM; Petrovski, S; Pfundt, R; Phillips, JA; Piera, MR; Posey, JE; Postlethwait, JH; Potocki, L; Pusey, BN; Reuter, CM; Robertson, AK; Rodan, LH; Roscioli, T; Rosenfeld, JA; Rousseau, J; Sakkubai, N; Sampson, JB; Samson, SL; Schoch, K; Schroeder, MC; Scott, DA; Sebastian, J; Sharma, P; Shashi, V; Signer, R; Silverman, EK; Sinsheimer, JS; Smith, KS; Sonal, D; Spillmann, RC; Splinter, K; Stoler, JM; Stong, N; Sullivan, JA; Sweetser, DA; Tarpinian, JM; Thevenon, J; Tifft, CJ; Toro, C; Tran, AA; Turner, A; Urv, TK; Valivullah, ZM; van Gassen, K L I; van Hasseit, PM; van Slegtenhorst, Marjon; Vilain, E; Vogel, TP; Wahl, CE; Walley, NM; Walsh, CA; Ward, PA; Waters, KM; Westerfield, M; Willing, M; Wise, AL; Wolfe, LA; Worthey, EA; Yamamoto, S; Yang, YP; Yu, GY; Zastrow, DB; Zheng, A

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Authors: DR Adams
ME Alejandro
P Allard
MS Azamian
CA Bacino
A Balasubramanyam
H Barseghyan
GF Batzli
AH Beggs
B Behnam
A Bican
DP Bick
CL Birch
D Bonner
BE Boone
BL Bostwick
LC Briere
Alice Brooks
DM Brown
M Brush
MF Buckley
EA Burke
LC Burrage
PM Campeau
A Caro-Llopis
S Chen
M T Cho
GD Clark
TR Coakley
JD Cogan
CM Cooper
H Cope
WJ Craigen
P D'Souza
M Davids
JG Dayal
EC Dell'Angelica
SU Dhar
A Dillon
KM Dipple
LA Donnell-Fink
N Dorrani
DC Dorset
ED Douine
DD Draper
DJ Eckstein
S Ehresmann
LT Emrick
CM Eng
A Eskin
C Esteves
T Estwick
L Faivre
C Ferreira
E Fiala
BL Fogel
ND Friedman
WA Gahl
T Garcia
E Glanton
RA Godfrey
DB Goldstein
SE Gould
JPF Gourdine
CA Groden
AL Gropman
M Haendel
R Hamid
NA Hanchard
LH Handley
MR Herzog
FC Hofstede
IA Holm
J Hom
EM Howerton
Y Huang
HJ Jacob
M Jain
YH Jiang
JM Johnston
AL Jones
WD Jones
T Kleefstra
IS Kohane
ID Krantz
DM Krasnewich
EL Krieg
JB Krier
K Lachlan
Lalani
SR Lalani
CC Lau
J Lazar
BH Lee
H Lee
SE Levy
RA Lewis
SA Lincoln
A Lipson
SK Loo
J Loscalzo
RL Maas
K Machol
EF Macnamara
CA MacRae
S Madan-Khetarpal
VV Maduro
MM Majcherska
MCV Malicdan
LA Mamounas
TA Manolio
TC Markello
R Marom
F Martinez
JA Martinez-Agosto
S Marwaha
A Maurel
T May
A McConkie-Rosell
CE McCormack
AT McCray
H McLaughlin
M Might
S Monfort
PM Moretti
M Morimoto
JJ Mulvihill
JL Murphy
DM Muzny
ME Nehrebecky
SF Nelson
JS Newberry
JH Newman
TTM Nguyen
SK Nicholas
CY Nixon
D Novacic
JS Orange
C Orellana
JC Pallais
CGS Palmer
JC Papp
NH Parker
LDM Pena
S Petrovski
R Pfundt
JA Phillips
MR Piera
JE Posey
JH Postlethwait
L Potocki
BN Pusey
CM Reuter
AK Robertson
LH Rodan
T Roscioli
JA Rosenfeld
J Rousseau
N Sakkubai
JB Sampson
SL Samson
K Schoch
MC Schroeder
DA Scott
J Sebastian
P Sharma
V Shashi
R Signer
EK Silverman
JS Sinsheimer
KS Smith
D Sonal
RC Spillmann
K Splinter
JM Stoler
N Stong
JA Sullivan
DA Sweetser
JM Tarpinian
J Thevenon
CJ Tifft
C Toro
AA Tran
A Turner
TK Urv
ZM Valivullah
K L I van Gassen
PM van Hasseit
Marjon van Slegtenhorst
E Vilain
TP Vogel
CE Wahl
NM Walley
CA Walsh
PA Ward
KM Waters
M Westerfield
M Willing
AL Wise
LA Wolfe
EA Worthey
S Yamamoto
YP Yang
GY Yu
DB Zastrow
A Zheng
Publication date: 1 January 2019
Publisher: 'Elsevier BV'
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