| De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ... Science 350 (6265), 1262-1266, 2015 | 774 | 2015 |
| Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands SC Jin, J Homsy, S Zaidi, Q Lu, S Morton, SR DePalma, X Zeng, H Qi, ... Nature genetics 49 (11), 1593-1601, 2017 | 742 | 2017 |
| A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 TH Beaty, JC Murray, ML Marazita, RG Munger, I Ruczinski, JB Hetmanski, ... Nature genetics 42 (6), 525-529, 2010 | 670 | 2010 |
| Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease C Cruchaga, CM Karch, SC Jin, BA Benitez, Y Cai, R Guerreiro, O Harari, ... Nature 505 (7484), 550-554, 2014 | 525 | 2014 |
| GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer’s disease C Cruchaga, JSK Kauwe, O Harari, SC Jin, Y Cai, CM Karch, BA Benitez, ... Neuron 78 (2), 256-268, 2013 | 398 | 2013 |
| A common haplotype lowers PU. 1 expression in myeloid cells and delays onset of Alzheimer's disease K Huang, E Marcora, AA Pimenova, AF Di Narzo, M Kapoor, SC Jin, ... Nature neuroscience 20 (8), 1052-1061, 2017 | 350 | 2017 |
| Coding variants in TREM2 increase risk for Alzheimer's disease SC Jin, BA Benitez, CM Karch, B Cooper, T Skorupa, D Carrell, JB Norton, ... Human molecular genetics 23 (21), 5838-5846, 2014 | 305 | 2014 |
| Genome-wide and candidate gene association study of cigarette smoking behaviors N Caporaso, F Gu, N Chatterjee, J Sheng-Chih, K Yu, M Yeager, C Chen, ... PloS one 4 (2), e4653, 2009 | 288 | 2009 |
| Alzheimer's disease‐associated TREM2 variants exhibit either decreased or increased ligand‐dependent activation W Song, B Hooli, K Mullin, SC Jin, M Cella, TK Ulland, Y Wang, RE Tanzi, ... Alzheimer's & Dementia 13 (4), 381-387, 2017 | 241 | 2017 |
| CLCN2 chloride channel mutations in familial hyperaldosteronism type II UI Scholl, G Stölting, J Schewe, A Thiel, H Tan, C Nelson-Williams, ... Nature genetics 50 (3), 349-354, 2018 | 237 | 2018 |
| Evidence for gene‐environment interaction in a genome wide study of nonsyndromic cleft palate TH Beaty, I Ruczinski, JC Murray, ML Marazita, RG Munger, JB Hetmanski, ... Genetic epidemiology 35 (6), 469-478, 2011 | 217 | 2011 |
| TREM2 is associated with the risk of Alzheimer's disease in Spanish population BA Benitez, B Cooper, P Pastor, SC Jin, E Lorenzo, S Cervantes, ... Neurobiology of aging 34 (6), 1711. e15-1711. e17, 2013 | 174 | 2013 |
| TREM2 is associated with increased risk for Alzheimer’s disease in African Americans SC Jin, MM Carrasquillo, BA Benitez, T Skorupa, D Carrell, D Patel, ... Molecular neurodegeneration 10, 1-7, 2015 | 151 | 2015 |
| Missense variant in TREML2 protects against Alzheimer's disease BA Benitez, SC Jin, R Guerreiro, R Graham, J Lord, D Harold, R Sims, ... Neurobiology of aging 35 (6), 1510. e19-1510. e26, 2014 | 143 | 2014 |
| De novo mutation in genes regulating neural stem cell fate in human congenital hydrocephalus CG Furey, J Choi, SC Jin, X Zeng, AT Timberlake, C Nelson-Williams, ... Neuron 99 (2), 302-314. e4, 2018 | 130 | 2018 |
| Mutations disrupting neuritogenesis genes confer risk for cerebral palsy SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ... Nature genetics 52 (10), 1046-1056, 2020 | 126 | 2020 |
| Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American … SC Jin, P Pastor, B Cooper, S Cervantes, BA Benitez, C Razquin, A Goate, ... Alzheimer's research & therapy 4, 1-9, 2012 | 117 | 2012 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 116 | 2018 |
| Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus SC Jin, W Dong, AJ Kundishora, S Panchagnula, A Moreno-De-Luca, ... Nature medicine 26 (11), 1754-1765, 2020 | 109 | 2020 |
| The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers BA Benitez, CM Karch, Y Cai, SC Jin, B Cooper, D Carrell, S Bertelsen, ... PLoS genetics 9 (8), e1003685, 2013 | 81 | 2013 |
Bruno A. Benitez, MDAssistant Professor of Neurology, Harvard Medical School - Beth Israel Deaconess Medical Center在 bidmc.harvard.edu 的电子邮件经过验证
