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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 | 346 | 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 | 211 | 2005 |
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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 | 150 | 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 | 143 | 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 | 107 | 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 | 105 | 2010 |
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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 | 73 | 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 | 57 | 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 | 52 | 2022 |
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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 | 35 | 2023 |
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 | 26 | 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 | 25 | 2021 |
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 | 25 | 2012 |
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 | 22 | 2021 |