Acceso abierto

Problems of unknown significance: Counseling in the era of next generation sequencing

   | 29 oct 2018

Cite

Langfelder-Schwind E, Karczeski B, Strecker MN, Redman J, Sugarman EA, Zaleski C, et al. Molecular testing for cystic fibrosis carrier status practice guidelines: Recommendations of the National Society of Genetic Counselors. J Genet Couns. 2014; 23(1): 5-15.Langfelder-SchwindEKarczeskiBStreckerMNRedmanJSugarmanEAZaleskiCMolecular testing for cystic fibrosis carrier status practice guidelines: Recommendations of the National Society of Genetic CounselorsJ Genet Couns201423151510.1007/s10897-013-9636-924014130Search in Google Scholar

Bergmann C. Advances in renal genetic diagnosis. Cell Tissue Res. 2017; 369(1): 93-104.BergmannCAdvances in renal genetic diagnosisCell Tissue Res201736919310410.1007/s00441-017-2636-628597138Search in Google Scholar

Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, et al. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Hum Mol Genet. 2008; 17(24): 3854-3863.KeyserBMühlhausenCDickmannsAChristensenEMuscholNUllrichKDisease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)Hum Mol Genet200817243854386310.1093/hmg/ddn28418775954Search in Google Scholar

Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, et al. Diagnosis and management of glutaric aciduria type I - Revised recommendations. J Inherit Metab Dis. 2011; 34(3): 677-694.KölkerSChristensenELeonardJVGreenbergCRBonehABurlinaABDiagnosis and management of glutaric aciduria type I - Revised recommendationsJ Inherit Metab Dis201134367769410.1007/s10545-011-9289-5310924321431622Search in Google Scholar

Matalon R, Michals K, Kaul R, Mafee M. Spongy degeneration of the brain, canavan disease. Int Pediatr. 1990; 5(2): 121-124.MatalonRMichalsKKaulRMafeeMSpongy degeneration of the brain, canavan diseaseInt Pediatr199052121124Search in Google Scholar

Schober H, Luetschg J, Hoeliner I, Kalb S, Simma B. Canavan disease: A novel mutation. Pediatr Neurol. 2011; 45(4): 256-258.SchoberHLuetschgJHoelinerIKalbSSimmaBCanavan disease: A novel mutationPediatr Neurol201145425625810.1016/j.pediatrneurol.2011.06.01121907889Search in Google Scholar

Vasli N, Laporte J. Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders. Acta Neuropathol. 2013; 125(2): 173-185.VasliNLaporteJImpacts of massively parallel sequencing for genetic diagnosis of neuromuscular disordersActa Neuropathol2013125217318510.1007/s00401-012-1072-723224362Search in Google Scholar

Fecteau H, Vogel KJ, Hanson K, Morrill-Cornelius S. The evolution of cancer risk assessment in the era of next generation sequencing. J Genet Couns. 2014; 23(4): 633-639.FecteauHVogelKJHansonKMorrill-CorneliusSThe evolution of cancer risk assessment in the era of next generation sequencingJ Genet Couns201423463363910.1007/s10897-014-9714-724756768Search in Google Scholar

Guerreiro R, Bras J, Hardy J, Singleton A. Next generation sequencing techniques in neurological diseases: Redefining clinical and molecular associations. Hum Mol Genet. 2014; 23(R1): R47-R53.GuerreiroRBrasJHardyJSingletonANext generation sequencing techniques in neurological diseases: Redefining clinical and molecular associationsHum Mol Genet201423R1R47R5310.1093/hmg/ddu203417071724794858Search in Google Scholar

Teoh HL, Sampaio H, Roscioli T, Farrar M. Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing. J Neurol Neurosurg Psychiatry. 2016; 87(12): 1384-1385.TeohHLSampaioHRoscioliTFarrarMApproaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencingJ Neurol Neurosurg Psychiatry201687121384138510.1136/jnnp-2016-31381227301348Search in Google Scholar

Acsadi G. Pediatric neurology in the era of genomics. Pediatr Clin North Am. 2015; 62(3): xvii-xviii.AcsadiGPediatric neurology in the era of genomicsPediatr Clin North Am2015623xviixviii10.1016/j.pcl.2015.03.01426022177Search in Google Scholar

Jiang T, Tan M-S, Tan L, Yu J-T. Application of next-generation sequencing technologies in neurology. Ann Transl Med. 2014; 2(12): 125-134.JiangTTanM-STanLYuJ-TApplication of next-generation sequencing technologies in neurologyAnn Transl Med2014212125134Search in Google Scholar

Cheng HH, Klemfuss N, Montgomery B, Higano CS, Schweizer MT, Mostaghel EA, et al. A pilot study of clinical targeted next generation sequencing for prostate cancer: Consequences for treatment and genetic counseling. Prostate. 2016; 76(14): 1303-1311.ChengHHKlemfussNMontgomeryBHiganoCSSchweizerMTMostaghelEAA pilot study of clinical targeted next generation sequencing for prostate cancer: Consequences for treatment and genetic counselingProstate201676141303131110.1200/jco.2016.34.2_suppl.251Search in Google Scholar

Rhodes A, Rosman L, Cahill J, Ingles J, Murray B, Tichnell C, et al. Minding the genes: A multidisciplinary approach towards genetic assessment of cardiovascular disease. J Genet Couns. 2017; 26(2): 224-231.RhodesARosmanLCahillJInglesJMurrayBTichnellCMinding the genes: A multidisciplinary approach towards genetic assessment of cardiovascular diseaseJ Genet Couns201726222423110.1007/s10897-016-0017-z27695998Search in Google Scholar

Hooker GW, Clemens KR, Quillin J, Vogel Postula KJ, Summerour P, Nagy R, et al. Cancer genetic counseling and testing in an era of rapid change. J Genet Couns. 2017; 26(6): 1244-1253.HookerGWClemensKRQuillinJVogelPostula KJSummerourPNagyRCancer genetic counseling and testing in an era of rapid changeJ Genet Couns20172661244125310.1007/s10897-017-0099-228434142Search in Google Scholar

Mizusawa Y. Recent advances in genetic testing and counseling for inherited arrhythmias. J Arrhythm. 2016; 32(5): 389-397.MizusawaYRecent advances in genetic testing and counseling for inherited arrhythmiasJ Arrhythm201632538939710.1016/j.joa.2015.12.009506326227761163Search in Google Scholar

Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME. Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net? J Clin Oncol. 2013; 31(10): 1267-1270.DomchekSMBradburyAGarberJEOffitKRobsonMEMultiplex genetic testing for cancer susceptibility: Out on the high wire without a net?J Clin Oncol201331101267127010.1200/JCO.2012.46.940323460708Search in Google Scholar

van El CG, Cornel MC, Borry P, Hastings RJ, Fell-mann F, Hodgson SV, et al. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013; 21(Suppl 1): S1-S5. http://www.ncbi.nlm.nih.gov/pubmed/ 23819146. Accessed December 14, 2017.vanEl CGCornelMCBorryPHastingsRJFell-mannFHodgsonSVWhole-genome sequencing in health care. Recommendations of the European Society of Human GeneticsEur J Hum Genet201321(Suppl 1): S1-S5http://www.ncbi.nlm.nih.gov/pubmed/23819146. Accessed December 14, 2017Search in Google Scholar

European Society of Human Genetics: Documents & amp; Links. https://www.eshg.org/documents.0.html.Accessed December 14 2017.European Society of Human GeneticsDocuments & amp; Linkshttps://www.eshg.org/documents.0.html.AccessedDecember 14 2017Search in Google Scholar

National Society of Genetic Counselors: NSGC Home Page. https://www.nsgc.org/. Accessed December 14 2017.National Society of Genetic Counselors: NSGC Home Pagehttps://www.nsgc.org/Accessed December 14 2017Search in Google Scholar

Ackerman MJ. Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue. Hear Rhythm. 2015; 12(11): 2325-2331.AckermanMJGenetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issueHear Rhythm201512112325233110.1016/j.hrthm.2015.07.00226144349Search in Google Scholar

ESHG sequencing patient information. 2014. https://www.eshg.org/fileadmin/eshg/documents/ESHG_Patient_leaflet_on_NGS.pdf Accessed December 14 2017.ESHG sequencing patient information2014https://www.eshg.org/fileadmin/eshg/documents/ESHG_Patient_leaflet_on_NGS.pdfAccessed December 14 2017Search in Google Scholar

eISSN:
1311-0160
Idioma:
Inglés
Calendario de la edición:
2 veces al año
Temas de la revista:
Medicine, Basic Medical Science, other