Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

[1] Yang Y(2013)Clinical whole-exome sequencing for the diagnosis of Mendelian disorders N Engl J Med 369 1502-1511

[2] Yang Y(2014)Molecular findings among patients referred for clinical whole-exome sequencing JAMA 312 1870-1879

[3] Taylor JC(2015)Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Nat Genet 47 717-726

[4] Trujillano D(2017)Clinical exome sequencing: results from 2819 samples reflecting 1000 families Eur J Hum Genet 25 176-182

[5] Baynam G(2016)The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service Orphanet J Rare Dis 11 77-1887

[6] Fokstuen S(2016)Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Hum Genomics 10 24-2139

[7] Burke W(2015)Closing the gap between knowledge and clinical application: challenges for genomic translation PLoS Genet 11 e1004978-686

[8] Lee H(2014)Clinical exome sequencing for genetic identification of rare Mendelian disorders JAMA 312 1880-328

[9] Splinter Kimberly(2018)Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease New England Journal of Medicine 379 2131-939

[10] Adams David R.(2017)Insights from early experience of a rare disease genomic medicine multidisciplinary team: a qualitative study Eur J Hum Genet 25 680-918

[1] Yang Y(2013)Clinical whole-exome sequencing for the diagnosis of Mendelian disorders N Engl J Med 369 1502-1511

[2] Yang Y(2014)Molecular findings among patients referred for clinical whole-exome sequencing JAMA 312 1870-1879

[3] Taylor JC(2015)Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Nat Genet 47 717-726

[4] Trujillano D(2017)Clinical exome sequencing: results from 2819 samples reflecting 1000 families Eur J Hum Genet 25 176-182

[5] Baynam G(2016)The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service Orphanet J Rare Dis 11 77-1887

[6] Fokstuen S(2016)Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Hum Genomics 10 24-2139

[7] Burke W(2015)Closing the gap between knowledge and clinical application: challenges for genomic translation PLoS Genet 11 e1004978-686

[8] Lee H(2014)Clinical exome sequencing for genetic identification of rare Mendelian disorders JAMA 312 1880-328

[9] Splinter Kimberly(2018)Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease New England Journal of Medicine 379 2131-939

[10] Adams David R.(2017)Insights from early experience of a rare disease genomic medicine multidisciplinary team: a qualitative study Eur J Hum Genet 25 680-918