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Year Number of Results
1992 1
2001 1
2002 1
2004 3
2005 1
2007 1
2008 2
2011 1
2012 1
2014 1
2015 2
2016 5
2017 1
2018 3
2019 1
2020 5
2021 3
2022 4
2023 4
2024 4

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39 results

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Page 1
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Among authors: chitre m. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: chitre m. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
Different stroke(s).
Mundada V, Krishnakumar D, Chitre M, Das T. Mundada V, et al. Among authors: chitre m. Arch Dis Child Educ Pract Ed. 2016 Jun;101(3):145. doi: 10.1136/archdischild-2014-306744. Epub 2015 Jun 12. Arch Dis Child Educ Pract Ed. 2016. PMID: 26071419 No abstract available.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: chitre m. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free PMC article.
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H; University of Washington Center for Mendelian Genomics; Bamshad MJ; Genomics England Research Consortium; Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D. Latour BL, et al. Among authors: chitre m. J Clin Invest. 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656. J Clin Invest. 2020. PMID: 32453716 Free PMC article.
Pediatric MOG-Ab-Associated Encephalitis: Supporting Early Recognition and Treatment.
Kim NN, Champsas D, Eyre M, Abdel-Mannan O, Lee V, Skippen A, Chitre MV, Forsyth R, Hemingway C, Kneen R, Lim M, Ram D, Ramdas S, Wassmer E, West S, Wright S, Biswas A, Mankad K, Flanagan EP, Palace J, Rossor T, Ciccarelli O, Hacohen Y. Kim NN, et al. Among authors: chitre mv. Neurol Neuroimmunol Neuroinflamm. 2024 Dec;11(6):e200323. doi: 10.1212/NXI.0000000000200323. Epub 2024 Oct 11. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 39393046 Free PMC article.
Evolution of brain MRI lesions in paediatric myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and its relevance to disease course.
Abdel-Mannan O, Champsas D, Tur C, Lee V, Manivannan S, Usman H, Skippen A, Desai I, Chitre M, Forsyth R, Kneen R, Ram D, Ramdas S, Rossor T, West S, Wright S, Palace J, Wassmer E, Hemingway C, Lim MJ, Mankad K, Ciccarelli O, Hacohen Y; UK-Childhood Neuroinflammatory Disease Network. Abdel-Mannan O, et al. Among authors: chitre m. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):426-433. doi: 10.1136/jnnp-2023-332542. J Neurol Neurosurg Psychiatry. 2024. PMID: 37979966
Cystic cerebellar schwannoma.
Chitre MB, Rajshekhar V, Chandi SM, Chandy MJ. Chitre MB, et al. Br J Neurosurg. 1992;6(5):477-9. doi: 10.3109/02688699208995038. Br J Neurosurg. 1992. PMID: 1449671
ATXN2 is a target of N-terminal proteolysis.
Chitre M, Emery P. Chitre M, et al. PLoS One. 2023 Dec 21;18(12):e0296085. doi: 10.1371/journal.pone.0296085. eCollection 2023. PLoS One. 2023. PMID: 38128014 Free PMC article.
39 results