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Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease.
Bombard Y, Palin J, Friedman JM, Veenstra G, Creighton S, Paulsen JS, Bottorff JL, Hayden MR; Canadian Respond-HD Collaborative Research Group. Bombard Y, et al. Among authors: friedman jm. Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):19-27. doi: 10.1002/ajmg.b.31130. Epub 2010 Nov 10. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21184581 Free PMC article.
Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease.
Bombard Y, Palin J, Friedman JM, Veenstra G, Creighton S, Bottorff JL, Hayden MR; Canadian Respond-HD Collaborative Research Group. Bombard Y, et al. Among authors: friedman jm. Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):217-26. doi: 10.1002/ajmg.b.32016. Epub 2012 Jan 9. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22231990
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium; Friedman JM, Gibson WT, Horvath GA. Thibodeau ML, et al. Among authors: friedman jm. Am J Med Genet A. 2017 Nov;173(11):3087-3092. doi: 10.1002/ajmg.a.38400. Epub 2017 Sep 12. Am J Med Genet A. 2017. PMID: 28898540
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Friedman JM, Bombard Y, Cornel MC, Fernandez CV, Junker AK, Plon SE, Stark Z, Knoppers BM; Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream. Friedman JM, et al. Genet Med. 2019 Feb;21(2):498-504. doi: 10.1038/s41436-018-0055-z. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895853 Free PMC article.
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
Pollard S, Weymann D, Dunne J, Mayanloo F, Buckell J, Buchanan J, Wordsworth S, Friedman JM, Stockler-Ipsiroglu S, Dragojlovic N, Elliott AM, Harrison M, Lynd LD, Regier DA. Pollard S, et al. Among authors: friedman jm. Eur J Hum Genet. 2021 Oct;29(10):1491-1501. doi: 10.1038/s41431-021-00882-1. Epub 2021 Apr 26. Eur J Hum Genet. 2021. PMID: 33903739 Free PMC article.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: friedman jm. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
829 results