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

K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, RC Spillmann, JA Sullivan, V Shashi, YH Jiang, N Stong, E Fiala, M Willing, R Pfundt, T Kleefstra, M T Cho, H McLaughlin, MR Piera, C Orellana, F Martinez, A Caro-LlopisS Monfort, T Roscioli, CY Nixon, MF Buckley, A Turner, WD Jones, PM van Hasseit, FC Hofstede, K L I van Gassen, Alice Brooks, Marjon van Slegtenhorst, K Lachlan, J Sebastian, S Madan-Khetarpal, D Sonal, N Sakkubai, J Thevenon, L Faivre, A Maurel, S Petrovski, ID Krantz, JM Tarpinian, JA Rosenfeld, BH Lee, PM Campeau, 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, DM Brown, M Brush, EA Burke, LC Burrage, S Chen, 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, LT Emrick, CM Eng, A Eskin, C Esteves, T Estwick, C Ferreira, BL Fogel, ND Friedman, WA Gahl, E Glanton, RA Godfrey, DB Goldstein, SE Gould, JPF Gourdine, CA Groden, AL Gropman, M Haendel, R Hamid, NA Hanchard, LH Handley, MR Herzog, IA Holm, J Hom, EM Howerton, Y Huang, HJ Jacob, M Jain, JM Johnston, AL Jones, IS Kohane, DM Krasnewich, EL Krieg, JB Krier, SR Lalani, Lalani, CC Lau, J Lazar, H Lee, SE Levy, RA Lewis, SA Lincoln, A Lipson, SK Loo, J Loscalzo, RL Maas, EF Macnamara, CA MacRae, VV Maduro, MM Majcherska, MCV Malicdan, LA Mamounas, TA Manolio, TC Markello, R Marom, JA Martinez-Agosto, S Marwaha, T May, A McConkie-Rosell, CE McCormack, AT McCray, M Might, PM Moretti, M Morimoto, JJ Mulvihill, JL Murphy, DM Muzny, ME Nehrebecky, SF Nelson, JS Newberry, JH Newman, SK Nicholas, D Novacic, JS Orange, JC Pallais, CGS Palmer, JC Papp, NH Parker, LDM Pena, JA Phillips, JE Posey, JH Postlethwait, L Potocki, BN Pusey, CM Reuter, AK Robertson, LH Rodan, JB Sampson, SL Samson, K Schoch, MC Schroeder, DA Scott, P Sharma, R Signer, EK Silverman, JS Sinsheimer, KS Smith, K Splinter, JM Stoler, DA Sweetser, CJ Tifft, C Toro, AA Tran, TK Urv, ZM Valivullah, E Vilain, TP Vogel, CE Wahl, NM Walley, CA Walsh, PA Ward, KM Waters, M Westerfield, AL Wise, LA Wolfe, EA Worthey, S Yamamoto, YP Yang, GY Yu, DB Zastrow, A Zheng

Research output: Contribution to journalArticleAcademicpeer-review

30 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)164-178
Number of pages15
JournalAmerican Journal of Human Genetics
Volume104
Issue number1
DOIs
Publication statusPublished - 2019

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