| Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies HC Mefford, H Muhle, P Ostertag, S von Spiczak, K Buysse, C Baker, ... PLoS genetics 6 (5), e1000962, 2010 | 511 | 2010 |
| Mutations in VANGL1 Associated with Neural-Tube Defects Z Kibar, E Torban, JR McDearmid, A Reynolds, J Berghout, M Mathieu, ... New England Journal of Medicine 356 (14), 1432-1437, 2007 | 349 | 2007 |
| Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2 DE Neilson, MD Adams, CMD Orr, DK Schelling, RM Eiben, DS Kerr, ... The American Journal of Human Genetics 84 (1), 44-51, 2009 | 346 | 2009 |
| Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2 DE Neilson, MD Adams, CMD Orr, DK Schelling, RM Eiben, DS Kerr, ... The American Journal of Human Genetics 84 (1), 44-51, 2009 | 346 | 2009 |
| FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation KA Aldinger, OJ Lehmann, L Hudgins, VV Chizhikov, AG Bassuk, ... Nature genetics 41 (9), 1037-1042, 2009 | 266 | 2009 |
| A direct physical association between ETS and AP-1 transcription factors in normal human T cells AG Bassuk, JM Leiden Immunity 3 (2), 223-237, 1995 | 243 | 1995 |
| A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome AG Bassuk, RH Wallace, A Buhr, AR Buller, Z Afawi, M Shimojo, S Miyata, ... The American Journal of Human Genetics 83 (5), 572-581, 2008 | 241 | 2008 |
| A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome AG Bassuk, RH Wallace, A Buhr, AR Buller, Z Afawi, M Shimojo, S Miyata, ... The American Journal of Human Genetics 83 (5), 572-581, 2008 | 241 | 2008 |
| VANGL2 Mutations in Human Cranial Neural-Tube Defects YP Lei, T Zhang, H Li, BL Wu, L Jin, HY Wang New England Journal of Medicine 362 (23), 2232-2235, 2010 | 209 | 2010 |
| Precision medicine: genetic repair of retinitis pigmentosa in patient-derived stem cells AG Bassuk, A Zheng, Y Li, SH Tsang, VB Mahajan Scientific reports 6 (1), 19969, 2016 | 201 | 2016 |
| Neural tube defects and folate pathway genes: family-based association tests of gene–gene and gene–environment interactions AL Boyles, AV Billups, KL Deak, DG Siegel, L Mehltretter, SH Slifer, ... Environmental health perspectives 114 (10), 1547-1552, 2006 | 177 | 2006 |
| Activation of the granulocyte-macrophage colony-stimulating factor promoter in T cells requires cooperative binding of Elf-1 and AP-1 transcription factors CY Wang, AG Bassuk, LH Boise, CB Thompson, R Bravo, JM Leiden Molecular and cellular biology, 1994 | 168 | 1994 |
| Activation of the granulocyte-macrophage colony-stimulating factor promoter in T cells requires cooperative binding of Elf-1 and AP-1 transcription factors CY Wang, AG Bassuk, LH Boise, CB Thompson, R Bravo, JM Leiden Molecular and cellular biology, 1994 | 168 | 1994 |
| Physical interactions between Ets and NF-kappaB/NFAT proteins play an important role in their cooperative activation of the human immunodeficiency virus enhancer in T cells AG Bassuk, RT Anandappa, JM Leiden Journal of virology 71 (5), 3563-3573, 1997 | 167 | 1997 |
| Genetic basis of neural tube defects AG Bassuk, Z Kibar Seminars in pediatric neurology 16 (3), 101-110, 2009 | 162 | 2009 |
| Mutations in prickle orthologs cause seizures in flies, mice, and humans H Tao, JR Manak, L Sowers, X Mei, H Kiyonari, T Abe, NS Dahdaleh, ... The American Journal of Human Genetics 88 (2), 138-149, 2011 | 158 | 2011 |
| The role of Ets transcription factors in the development and function of the mammalian immune system AG Bassuk, JM Leiden Advances in immunology 64, 65-104, 1997 | 152 | 1997 |
| Novel mutations in VANGL1 in neural tube defects Z Kibar, CM Bosoi, M Kooistra, S Salem, RH Finnell, P De Marco, ... Human mutation 30 (7), E706-E715, 2009 | 139 | 2009 |
| NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects W Lu, F Quintero-Rivera, Y Fan, FS Alkuraya, DJ Donovan, Q Xi, ... PLoS genetics 3 (5), e80, 2007 | 136 | 2007 |
| Contribution of VANGL2 mutations to isolated neural tube defects Z Kibar, S Salem, CM Bosoi, E Pauwels, P De Marco, E Merello, ... Clinical genetics 80 (1), 76-82, 2011 | 133 | 2011 |
