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Results by year

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

Year Number of Results
1993 1
1998 1
2002 2
2003 2
2004 1
2005 4
2006 1
2007 4
2008 3
2009 9
2010 11
2011 10
2012 9
2013 10
2014 10
2015 8
2016 8
2017 11
2018 10
2019 12
2020 12
2021 15
2022 13
2023 5
2024 4

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152 results

Results by year

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Page 1
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.
Regier DA, Loewen R, Chan B, Ehman M, Pollard S, Friedman JM, Stockler-Ipsiroglu S, van Karnebeek C, Race S, Elliott AM, Dragojlovic N, Lynd LD, Weymann D. Regier DA, et al. Among authors: friedman jm. Genet Med. 2024 Apr;26(4):101069. doi: 10.1016/j.gim.2024.101069. Epub 2024 Jan 8. Genet Med. 2024. PMID: 38205742 Free article.
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
Friedman JM, Bombard Y, Carleton B, Issa AM, Knoppers B, Plon SE, Rahimzadeh V, Relling MV, Williams MS, van Karnebeek C, Vears D, Cornel MC; Global Alliance for Genomics and Health Regulatory and Ethics Workstream. Friedman JM, et al. Genet Med. 2024 Feb;26(2):101033. doi: 10.1016/j.gim.2023.101033. Epub 2023 Nov 23. Genet Med. 2024. PMID: 38007624 Free article.
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.
Dolzhenko E, Weisburd B, Ibañez K, Rajan-Babu IS, Anyansi C, Bennett MF, Billingsley K, Carroll A, Clamons S, Danzi MC, Deshpande V, Ding J, Fazal S, Halman A, Jadhav B, Qiu Y, Richmond PA, Saunders CT, Scheffler K, van Vugt JJFA, Zwamborn RRAJ; Genomics England Research Consortium; Chong SS, Friedman JM, Tucci A, Rehm HL, Eberle MA. Dolzhenko E, et al. Among authors: friedman jm. Genome Med. 2022 Aug 11;14(1):84. doi: 10.1186/s13073-022-01085-z. Genome Med. 2022. PMID: 35948990 Free PMC article.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Among authors: friedman jm. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
152 results