| Year |
Citation |
Score |
| 2023 |
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, ... ... Ganesh VS, et al. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. Medrxiv : the Preprint Server For Health Sciences. PMID 38328047 DOI: 10.1101/2023.08.08.23293829 |
0.484 |
|
| 2023 |
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, et al. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. Medrxiv : the Preprint Server For Health Sciences. PMID 37873196 DOI: 10.1101/2023.10.05.23296595 |
0.496 |
|
| 2023 |
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, et al. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. Jama Neurology. PMID 37486637 DOI: 10.1001/jamaneurol.2023.2363 |
0.425 |
|
| 2020 |
Deng X, Achari A, Federman S, Yu G, Somasekar S, Bártolo I, Yagi S, Mbala-Kingebeni P, Kapetshi J, Ahuka-Mundeke S, Muyembe-Tamfum JJ, Ahmed AA, Ganesh V, Tamhankar M, Patterson JL, et al. Metagenomic sequencing with spiked primer enrichment for viral diagnostics and genomic surveillance. Nature Microbiology. PMID 31932713 DOI: 10.1038/S41564-019-0637-9 |
0.307 |
|
| 2018 |
Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, et al. Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. Neuron. PMID 30146301 DOI: 10.1016/J.Neuron.2018.07.052 |
0.644 |
|
| 2018 |
Coulter ME, Dorobantu CM, Lodewijk GA, Delalande F, Cianferani S, Ganesh VS, Smith RS, Lim ET, Xu CS, Pang S, Wong ET, Lidov HGW, Calicchio ML, Yang E, Gonzalez DM, et al. The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Reports. 24: 973-986.e8. PMID 30044992 DOI: 10.1016/J.Celrep.2018.06.100 |
0.632 |
|
| 2018 |
Piantadosi A, Mukerji S, Ye S, Leone M, Freimark L, Lemieux J, Solomon I, Ahmed A, Kanjilal S, Goldstein R, Ganesh V, Ostrem B, Thon J, Kinsella C, Adams G, et al. 868. Prospective Pathogen Detection in Patients With Central Nervous System Inflammation Using Metagenomic Sequencing Open Forum Infectious Diseases. 5: S23-S23. DOI: 10.1093/Ofid/Ofy209.053 |
0.317 |
|
| 2017 |
Piantadosi A, Kanjilal S, Ganesh V, Khanna A, Hyle EP, Rosand J, Bold T, Metsky HC, Lemieux J, Leone MJ, Freimark L, Matranga CB, Adams G, McGrath G, Zamirpour S, et al. Rapid detection of Powassan virus in a patient with encephalitis by metagenomic sequencing. Clinical Infectious Diseases : An Official Publication of the Infectious Diseases Society of America. PMID 29020227 DOI: 10.1093/Cid/Cix792 |
0.31 |
|
| 2012 |
Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, et al. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nature Genetics. 44: 1260-4. PMID 23023333 DOI: 10.1038/Ng.2425 |
0.615 |
|
| 2012 |
Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA. FLNA genomic rearrangements cause periventricular nodular heterotopia. Neurology. 78: 269-78. PMID 22238415 DOI: 10.1212/Wnl.0B013E31824365E4 |
0.642 |
|
| 2012 |
Ganesh V, Poduri A, Yu T, Partlow J, Barry B, Gotoff J, Walsh C. ISDN2012_0212: Whole exome sequencing of right‐sided asymmetric polymicrogyria International Journal of Developmental Neuroscience. 30: 682-682. DOI: 10.1016/J.Ijdevneu.2012.10.035 |
0.598 |
|
| 2010 |
Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, et al. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. American Journal of Human Genetics. 87: 882-9. PMID 21109224 DOI: 10.1016/J.Ajhg.2010.10.026 |
0.582 |
|
| 2010 |
Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, et al. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nature Genetics. 42: 245-9. PMID 20118933 DOI: 10.1038/Ng.526 |
0.568 |
|
| 2008 |
Esposito G, Imitola J, Lu J, De Filippis D, Scuderi C, Ganesh VS, Folkerth R, Hecht J, Shin S, Iuvone T, Chesnut J, Steardo L, Sheen V. Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury. Human Molecular Genetics. 17: 440-57. PMID 17984171 DOI: 10.1093/Hmg/Ddm322 |
0.36 |
|
| 2005 |
Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, et al. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 64: 254-62. PMID 15668422 DOI: 10.1212/01.Wnl.0000149512.79621.Df |
0.549 |
|
| 2004 |
Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain & Development. 26: 326-34. PMID 15165674 DOI: 10.1016/J.Braindev.2003.09.004 |
0.553 |
|
| 2004 |
Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nature Genetics. 36: 69-76. PMID 14647276 DOI: 10.1038/Ng1276 |
0.558 |
|
| 2003 |
Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 60: 1664-7. PMID 12771259 DOI: 10.1212/01.Wnl.0000068548.58498.41 |
0.59 |
|
| 2003 |
Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA. Autosomal recessive form of periventricular heterotopia. Neurology. 60: 1108-12. PMID 12682315 DOI: 10.1212/01.Wnl.0000055898.00349.02 |
0.513 |
|
| Show low-probability matches. |