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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 1
2007 2
2008 2
2009 7
2010 5
2011 4
2012 4
2013 11
2014 11
2015 11
2016 4
2017 9
2018 14
2019 14
2020 8
2021 8
2022 9
2023 0
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Search Results

107 results
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Page 1
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E, Gibbs RA, Young T, Barnett S, Belmont JW, Boczek N, Chowdhury S, Ellsworth KA, Guha S, Kulkarni S, Marcou C, Meng L, Murdock DR, Rehman AU, Spiteri E, Thomas-Wilson A, Kearney HM, Rehm HL; Medical Genome Initiative*. Austin-Tse CA, et al. Among authors: taft rj. NPJ Genom Med. 2022 Apr 8;7(1):27. doi: 10.1038/s41525-022-00295-z. NPJ Genom Med. 2022. PMID: 35395838 Free PMC article. Review.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP. Fountain MD, et al. Among authors: taft rj. Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25. Genet Med. 2019. PMID: 30679821 Free PMC article.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Among authors: taft rj. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
NICUSeq Study Group; Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. NICUSeq Study Group, et al. Among authors: taft rj. JAMA Pediatr. 2021 Dec 1;175(12):1218-1226. doi: 10.1001/jamapediatrics.2021.3496. JAMA Pediatr. 2021. PMID: 34570182 Free PMC article. Clinical Trial.
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.
Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Züchner S. Dohrn MF, et al. Among authors: taft rj. Neurology. 2022 Mar 15;98(11):440-445. doi: 10.1212/WNL.0000000000013276. Epub 2022 Feb 2. Neurology. 2022. PMID: 35110381
Non-coding RNAs: regulators of disease.
Taft RJ, Pang KC, Mercer TR, Dinger M, Mattick JS. Taft RJ, et al. J Pathol. 2010 Jan;220(2):126-39. doi: 10.1002/path.2638. J Pathol. 2010. PMID: 19882673 Review.
Cysteine-rich mini-proteins in human biology.
Lavergne V, Taft RJ, Alewood PF. Lavergne V, et al. Among authors: taft rj. Curr Top Med Chem. 2012;12(14):1514-33. doi: 10.2174/156802612802652411. Curr Top Med Chem. 2012. PMID: 22827521 Review.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Helman G, Zarekiani P, Tromp SAM, Andrews A, Botto LD, Bonkowsky JL, Chassevent A, Giorgio E, Pippucci T, Wei S, Smith-Hicks C, Vaula G, Willemsen MAAP, Schimmel M, Vollert K, Shimizu F, Kanda T, Lynch M, Roscioli T, Taft RJ, Simons C, Bugiani M, Kuijpers TW, van der Knaap MS. Helman G, et al. Among authors: taft rj. Ann Neurol. 2022 Nov;92(5):895-901. doi: 10.1002/ana.26477. Epub 2022 Aug 20. Ann Neurol. 2022. PMID: 35947102
107 results