| Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex VL Sheen, VS Ganesh, M Topcu, G Sebire, A Bodell, RS Hill, PE Grant, ... Nature genetics 36 (1), 69-76, 2004 | 402 | 2004 |
| Mutations in PNKP cause microcephaly, seizures and defects in DNA repair J Shen, EC Gilmore, CA Marshall, M Haddadin, JJ Reynolds, W Eyaid, ... Nature genetics 42 (3), 245-249, 2010 | 337 | 2010 |
| Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome VL Sheen, A Jansen, MH Chen, E Parrini, T Morgan, R Ravenscroft, ... Neurology 64 (2), 254-262, 2005 | 206 | 2005 |
| Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury G Esposito, J Imitola, J Lu, D De Filippis, C Scuderi, VS Ganesh, ... Human molecular genetics 17 (3), 440-457, 2008 | 151 | 2008 |
| Sodium channel SCN3A (NaV1. 3) regulation of human cerebral cortical folding and oral motor development RS Smith, CJ Kenny, V Ganesh, A Jang, R Borges-Monroy, JN Partlow, ... Neuron 99 (5), 905-913. e7, 2018 | 136 | 2018 |
| Metagenomic sequencing with spiked primer enrichment for viral diagnostics and genomic surveillance X Deng, A Achari, S Federman, G Yu, S Somasekar, I Bártolo, S Yagi, ... Nature microbiology 5 (3), 443-454, 2020 | 132 | 2020 |
| CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development GH Mochida, VS Ganesh, MI De Michelena, H Dias, KD Atabay, ... Nature genetics 44 (11), 1260-1264, 2012 | 104 | 2012 |
| A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts GH Mochida, VS Ganesh, JM Felie, D Gleason, RS Hill, KR Clapham, ... The American Journal of Human Genetics 87 (6), 882-889, 2010 | 104 | 2010 |
| The ESCRT-III protein CHMP1A mediates secretion of sonic hedgehog on a distinctive subtype of extracellular vesicles ME Coulter, CM Dorobantu, GA Lodewijk, F Delalande, S Cianferani, ... Cell reports 24 (4), 973-986. e8, 2018 | 88 | 2018 |
| A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21 A Rajab, GH Mochida, A Hill, V Ganesh, A Bodell, A Riaz, PE Grant, ... Neurology 60 (10), 1664-1667, 2003 | 78 | 2003 |
| Autosomal recessive form of periventricular heterotopia VL Sheen, M Topcu, S Berkovic, D Yalnizoglu, I Blatt, A Bodell, RS Hill, ... Neurology 60 (7), 1108-1112, 2003 | 71 | 2003 |
| Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus VL Sheen, L Basel-Vanagaite, JR Goodman, IE Scheffer, A Bodell, ... Brain and Development 26 (5), 326-334, 2004 | 58 | 2004 |
| Rapid detection of Powassan virus in a patient with encephalitis by metagenomic sequencing A Piantadosi, S Kanjilal, V Ganesh, A Khanna, EP Hyle, J Rosand, T Bold, ... Clinical infectious diseases 66 (5), 789-792, 2018 | 56 | 2018 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 46 | 2022 |
| Enhanced virus detection and metagenomic sequencing in patients with meningitis and encephalitis A Piantadosi, SS Mukerji, S Ye, MJ Leone, LM Freimark, D Park, G Adams, ... MBio 12 (4), 10.1128/mbio. 01143-21, 2021 | 40 | 2021 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 25 | 2023 |
| FLNA genomic rearrangements cause periventricular nodular heterotopia KR Clapham, TW Yu, VS Ganesh, B Barry, Y Chan, D Mei, E Parrini, ... Neurology 78 (4), 269-278, 2012 | 24 | 2012 |
| Jamestown Canyon virus in Massachusetts: clinical case series and vector screening CM Kinsella, ML Paras, S Smole, S Mehta, V Ganesh, LH Chen, ... Emerging Microbes & Infections 9 (1), 903-912, 2020 | 22 | 2020 |
| A form of muscular dystrophy associated with pathogenic variants in JAG2 S Coppens, AM Barnard, S Puusepp, S Pajusalu, K Õunap, ... The American Journal of Human Genetics 108 (5), 840-856, 2021 | 21 | 2021 |
| Fatal case of chronic Jamestown Canyon virus encephalitis diagnosed by metagenomic sequencing in patient receiving rituximab IH Solomon, VS Ganesh, G Yu, XD Deng, MR Wilson, S Miller, TA Milligan, ... Emerging infectious diseases 27 (1), 238, 2021 | 21 | 2021 |
Christopher A WalshBoston Children's Hospitalchildrens.harvard.edu üzerinde doğrulanmış e-posta adresine sahip
