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Jiong Yan
Jiong Yan
university health network
在 uhn.ca 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
3882002
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
2472007
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
2232008
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
1902007
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
1462002
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
1322003
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
1132005
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
942007
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
892006
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
852006
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
682009
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
602009
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
512012
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
462007
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
432004
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
392003
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
382014
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
342016
Therapeutic relevance of the protein phosphatase 2A in cancer
CE Cunningham, S Li, FS Vizeacoumar, KK Bhanumathy, JS Lee, ...
Oncotarget 7 (38), 61544, 2016
322016
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
302014
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