Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia CF Boerkoel, H Takashima, J John, J Yan, P Stankiewicz, L Rosenbarker, ... Nature genetics 30 (2), 215-220, 2002 | 388 | 2002 |
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux W Lu, AM Van Eerde, X Fan, F Quintero-Rivera, S Kulkarni, H Ferguson, ... The American Journal of Human Genetics 80 (4), 616-632, 2007 | 247 | 2007 |
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet–Biedl syndrome JL Tobin, M Di Franco, E Eichers, H May-Simera, M Garcia, J Yan, ... Proceedings of the National Academy of Sciences 105 (18), 6714-6719, 2008 | 223 | 2008 |
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy M Khajavi, K Shiga, W Wiszniewski, F He, CA Shaw, J Yan, TG Wensel, ... The American Journal of Human Genetics 81 (3), 438-453, 2007 | 190 | 2007 |
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11. 2 and the syntenic region of the mouse W Bi, J Yan, P Stankiewicz, SS Park, K Walz, CF Boerkoel, L Potocki, ... Genome research 12 (5), 713-728, 2002 | 146 | 2002 |
COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast J Yan, K Walz, H Nakamura, S Carattini-Rivera, Q Zhao, H Vogel, N Wei, ... Molecular and cellular biology 23 (19), 6798-6808, 2003 | 132 | 2003 |
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith–Magenis syndrome W Bi, T Ohyama, H Nakamura, J Yan, J Visvanathan, MJ Justice, ... Human molecular genetics 14 (8), 983-995, 2005 | 113 | 2005 |
Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes W Bi, J Yan, X Shi, LA Yuva-Paylor, BA Antalffy, A Goldman, JW Yoo, ... Human molecular genetics 16 (15), 1802-1813, 2007 | 94 | 2007 |
Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome J Yan, GM Saifi, TH Wierzba, M Withers, GA Bien‐Willner, J Limon, ... American Journal of Medical Genetics Part A 140 (14), 1531-1541, 2006 | 89 | 2006 |
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2) K Walz, R Paylor, J Yan, W Bi, JR Lupski The Journal of clinical investigation 116 (11), 3035-3041, 2006 | 85 | 2006 |
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation LI Elizondo, KS Cho, W Zhang, J Yan, C Huang, Y Huang, K Choi, ... Journal of medical genetics 46 (1), 49-59, 2009 | 68 | 2009 |
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange J Yan, F Zhang, E Brundage, A Scheuerle, B Lanpher, RP Erickson, ... Journal of medical genetics 46 (9), 626-634, 2009 | 60 | 2009 |
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men M Lacaria, P Saha, L Potocki, W Bi, J Yan, S Girirajan, B Burns, S Elsea, ... PLoS genetics 8 (5), e1002713, 2012 | 51 | 2012 |
Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike J Yan, W Bi, JR Lupski The American Journal of Human Genetics 80 (3), 518-525, 2007 | 46 | 2007 |
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith–Magenis syndrome J Yan, VW Keener, W Bi, K Walz, A Bradley, MJ Justice, JR Lupski Human molecular genetics 13 (21), 2613-2624, 2004 | 43 | 2004 |
Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits P Stankiewicz, K Inoue, W Bi, K Walz, SS Park, N Kurotaki, CJ Shaw, ... Cold Spring Harbor symposia on quantitative biology 68, 445-454, 2003 | 39 | 2003 |
De novo acute myeloid leukemia with 20–29% blasts is less aggressive than acute myeloid leukemia with ≥30% blasts in older adults: a Bone Marrow Pathology … RP Hasserjian, F Campigotto, V Klepeis, B Fu, SA Wang, ... American journal of hematology 89 (11), E193-E199, 2014 | 38 | 2014 |
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics MN Loviglio, CR Beck, JJ White, M Leleu, T Harel, N Guex, A Niknejad, ... Genome medicine 8, 1-15, 2016 | 34 | 2016 |
Therapeutic relevance of the protein phosphatase 2A in cancer CE Cunningham, S Li, FS Vizeacoumar, KK Bhanumathy, JS Lee, ... Oncotarget 7 (38), 61544, 2016 | 32 | 2016 |
Hypermethylation of the tumor suppressor gene PRDM1/Blimp-1 supports a pathogenetic role in EBV-positive Burkitt lymphoma T Zhang, J Ma, K Nie, J Yan, Y Liu, CE Bacchi, EM Queiroga, G Gualco, ... Blood cancer journal 4 (11), e261-e261, 2014 | 30 | 2014 |