| MAVS and MyD88 are essential for innate immunity but not cytotoxic T lymphocyte response against respiratory syncytial virus VG Bhoj, Q Sun, EJ Bhoj, C Somers, X Chen, JP Torres, A Mejias, ... Proceedings of the National Academy of Sciences 105 (37), 14046-14051, 2008 | 178 | 2008 |
| ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor D Li, ME March, A Gutierrez-Uzquiza, C Kao, C Seiler, E Pinto, ... Nature medicine 25 (7), 1116-1122, 2019 | 142 | 2019 |
| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 140 | 2017 |
| Harmonizing clinical sequencing and interpretation for the eMERGE III network H Zouk, E Venner, NJ Lennon, DM Muzny, D Abrams, S Adunyah, ... The American Journal of Human Genetics 105 (3), 588-605, 2019 | 90 | 2019 |
| De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions B Fregeau, BJ Kim, A Hernández-García, VK Jordan, MT Cho, RE Schnur, ... The American Journal of Human Genetics 98 (5), 963-970, 2016 | 86 | 2016 |
| Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly D Li, TL Wenger, C Seiler, ME March, A Gutierrez-Uzquiza, C Kao, E Bhoj, ... Human molecular genetics 27 (18), 3233-3245, 2018 | 79 | 2018 |
| Automated clinical exome reanalysis reveals novel diagnoses SW Baker, JR Murrell, AI Nesbitt, KB Pechter, J Balciuniene, X Zhao, Z Yu, ... The Journal of Molecular Diagnostics 21 (1), 38-48, 2019 | 77 | 2019 |
| Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure S Mulchandani, EJ Bhoj, M Luo, N Powell-Hamilton, K Jenny, KW Gripp, ... Genetics in Medicine 18 (4), 309-315, 2016 | 76 | 2016 |
| Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome EG Bend, E Aref-Eshghi, DB Everman, RC Rogers, SS Cathey, EJ Prijoles, ... Clinical epigenetics 11 (1), 1-17, 2019 | 75 | 2019 |
| Mutations in TBCK, encoding TBC1-domain-containing kinase, lead to a recognizable syndrome of intellectual disability and hypotonia EJ Bhoj, D Li, M Harr, S Edvardson, O Elpeleg, E Chisholm, J Juusola, ... The American Journal of Human Genetics 98 (4), 782-788, 2016 | 66 | 2016 |
| Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome DC Lynch, T Revil, J Schwartzentruber, EJ Bhoj, AM Innes, RE Lamont, ... Nature communications 5 (1), 4483, 2014 | 65 | 2014 |
| Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq JK Aicher, P Jewell, J Vaquero-Garcia, Y Barash, EJ Bhoj Genetics in Medicine 22 (7), 1181-1190, 2020 | 59 | 2020 |
| Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ... Science advances 6 (49), eabc9207, 2020 | 45 | 2020 |
| Monoallelic BMP2 variants predicted to result in haploinsufficiency cause craniofacial, skeletal, and cardiac features overlapping those of 20p12 deletions TY Tan, C Gonzaga-Jauregui, EJ Bhoj, KA Strauss, K Brigatti, ... The American Journal of Human Genetics 101 (6), 985-994, 2017 | 45 | 2017 |
| De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies H Pinz, LC Pyle, D Li, K Izumi, C Skraban, J Tarpinian, SR Braddock, ... American journal of medical genetics Part A 176 (4), 969-972, 2018 | 44 | 2018 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 43 | 2020 |
| Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders A Nesbitt, EJ Bhoj, K McDonald Gibson, Z Yu, E Denenberg, M Sarmady, ... American Journal of Medical Genetics Part A 167 (11), 2548-2554, 2015 | 42 | 2015 |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 38 | 2021 |
| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ... The American Journal of Human Genetics 108 (6), 1053-1068, 2021 | 34 | 2021 |
| MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, ... Neurogenetics 19, 93-103, 2018 | 34 | 2018 |
Dong Li (李东)Research Assistant Professor, Children's Hospital of Philadelphia, University of Pennsylvania在 email.chop.edu 的电子邮件经过验证
