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Khodyuchenko T, Zlotina A, Pervunina T, Zverev D, Malashicheva A, Kostareva A. Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes. Biomed Res Int. 2015;2015:127807.25861618KhodyuchenkoTZlotinaAPervuninaTZverevDMalashichevaAKostarevaACongenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genesBiomed Res Int2015201512780710.1155/2015/127807437739125861618Search in Google Scholar
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Sturge–Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013; 368:1971–1979.10.1056/NEJMoa121350723656586ShirleyMDTangHGallioneCJBaugherJDFrelinLPCohenBNorthPEMarchukDAComiAMPevsnerJSturge–Weber syndrome and port-wine stains caused by somatic mutation in GNAQN Engl J Med201336819711979374906823656586Open DOISearch in Google Scholar
Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P, Le J, Wallenstein MB, Milla C, Teng JM, Bernstein JA, Stevenson DA. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. Am J Med Genet Part A 2016; 170(6):1450–54.10.1002/ajmg.a.37613MacmurdoCFWooderchak-DonahueWBayrak-ToydemirPLeJWallensteinMBMillaCTengJMBernsteinJAStevensonDARASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndromeAm J Med Genet Part A2016170614505426969842Open DOISearch in Google Scholar
Knudson A. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci 170; 68(4): 820–823.10.1073/pnas.68.4.820KnudsonAMutation and cancer: statistical study of retinoblastomaProc Natl Acad Sci6848208233890515279523Open DOISearch in Google Scholar
US National Institutes of Health (2016) ClinicalTrials.gov. US Natl Institutes Health.US National Institutes of Health2016ClinicalTrials.govUS Natl Institutes HealthSearch in Google Scholar
https://www.cdc.gov/genomics/gtesting/acce/fbr/index.htmhttps://www.cdc.gov/genomics/gtesting/acce/fbr/index.htmSearch in Google Scholar
Burke W, Zimmern RL, Kroese M. Defining purpose: a key step in genetic test evaluation. Genet Med 2007; 9:675–81.1807358010.1097/GIM.0b013e318156e45bBurkeWZimmernRLKroeseMDefining purpose: a key step in genetic test evaluationGenet Med200796758118073580Search in Google Scholar
Burke W, Atkins D, Gwinn M, Guttmacher A, Haddow J, Lau J, Palomaki G, Press N, Richards CS, Wideroff L, Wiesner GL. Genetic test evaluation: Information needs of clinicians, policy makers, and the public. Am J Epidemiol 2002; 156(4): 311–18.1218110010.1093/aje/kwf055BurkeWAtkinsDGwinnMGuttmacherAHaddowJLauJPalomakiGPressNRichardsCSWideroffLWiesnerGLGenetic test evaluation: Information needs of clinicians, policy makers, and the publicAm J Epidemiol200215643111812181100Search in Google Scholar
Kohler JN, Turbitt E, Biesecker BB. Personal utility in genomic testing: a systematic literature review. Eur J Hum Genet 2017; 25(6):662-68.10.1038/ejhg.2017.1028295040KohlerJNTurbittEBieseckerBBPersonal utility in genomic testing: a systematic literature reviewEur J Hum Genet201725666268547735528295040Open DOISearch in Google Scholar
Khoury MJ, Jones K, Grosse SD (2006) Quantifying the health benefits of genetic tests: the importance of a population perspective. Genet Med 8:191–95.10.1097/01.gim.0000206278.37405.2516540755KhouryMJJonesKGrosseSD2006Quantifying the health benefits of genetic tests: the importance of a population perspectiveGenet Med81919516540755Open DOISearch in Google Scholar
Biesecker L, Julie S. Proteus syndrome. GeneReviews. (3rdedn) 2012; University of Washington, Seattle.BieseckerLJulieSProteus syndromeGeneReviews. (3rdedn)2012University of WashingtonSeattleSearch in Google Scholar
Mansour S, Brice GW, Jeffery S, Mortimer P. Lymphedema-distichiasis syndrome. GeneReviews. (7thedn) 2005; University of Washington, Seattle.MansourSBriceGWJefferySMortimerPLymphedema-distichiasis syndromeGeneReviews. (7thedn)2005University of WashingtonSeattleSearch in Google Scholar
Brice GW, Mansour S, Ostergaard P, et al. Milroy Disease. 2006 Apr 27 (Updated 2014 Sep 25). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® (Internet). Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1239/BriceGWMansourSOstergaardPet alMilroy Disease2006Apr 27 (Updated 2014 Sep 25)AdamMPArdingerHHPagonRAet alGeneReviews® (Internet)Seattle (WA)University of WashingtonSeattle; 1993-2018. Available fromhttps://www.ncbi.nlm.nih.gov/books/NBK1239/Search in Google Scholar
Bayrak-Toydemir P, Stevenson D. RASA1-related disorders. GeneReviews. (4thedn) 2011; University of Washington, Seattle.Bayrak-ToydemirPStevensonDRASA1-related disorders. GeneReviews2011University of WashingtonSeattleSearch in Google Scholar
Mirzaa G, Conway R, Graham JM, Dobyns WB. PIK3CA-related segmental overgrowth. GeneReviews. (2ndedn) 2013; University of Washington, Seattle.MirzaaGConwayRGrahamJMDobynsWBPIK3CA-related segmental overgrowthGeneReviews. (2ndedn)2013University of WashingtonSeattleSearch in Google Scholar
Allanson JE, Roberts AE. Noonan syndrome. GeneReviews. (12thedn) 2016; University of Washington, Seattle.AllansonJERobertsAENoonan syndromeGeneReviews. (12thedn)2016University of WashingtonSeattleSearch in Google Scholar
Boon L, Vikkula M. Multiple cutaneous and mucosal venous malformations. GeneReviews. (4thedn) 2008; University of Washington, Seattle.BoonLVikkulaMMultiple cutaneous and mucosal venous malformationsGeneReviews. (4thedn)2008University of WashingtonSeattleSearch in Google Scholar
McDonald J, Pyeritz RE (2000) Hereditary hemorrhagic telangiectasia. GeneReviews. (11thedn), University of Washington, Seattle.McDonaldJPyeritzRE2000Hereditary hemorrhagic telangiectasiaGeneReviewsUniversity of WashingtonSeattleSearch in Google Scholar
Morrison L, Akers A. Cerebral cavernous malformation, familial. GeneReviews. (8thedn) 2003; University of Washington, Seattle.MorrisonLAkersACerebral cavernous malformation, familialGeneReviews. (8thedn)2003University of WashingtonSeattleSearch in Google Scholar
Loeys BL. Loeys-Dietz syndrome. GeneReviews. (4thedn) 2001; University of Washington, Seattle.LoeysBLLoeys-Dietz syndromeGeneReviews. (4thedn)2001University of WashingtonSeattleSearch in Google Scholar
Dietz HC. Marfan Syndrome. GeneReviews. (8thedn) 2001; University of Washington, Seattle.DietzHCMarfan SyndromeGeneReviews. (8thedn)2001University of WashingtonSeattleSearch in Google Scholar
Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, et al. GeneReviews. University of Washington, Seattle.PagonRAAdamMPArdingerHHWallaceSEAmemiyaAet alGeneReviewsUniversity of WashingtonSeattleSearch in Google Scholar
Brett GR, Wilkins EJ, Creed ET, West K, Jarmolowicz A, Valente GM, Prawer Y, Lynch E, Macciocca I. Genetic counseling in the era of genomics: what’s all the fuss about? J Genet Couns 2018; (Epub ahead of print).29368275BrettGRWilkinsEJCreedETWestKJarmolowiczAValenteGMPrawerYLynchEMaccioccaIGenetic counseling in the era of genomics: what’s all the fuss about?J Genet Couns2018Epub ahead of print10.1007/s10897-018-0216-x29368275Search in Google Scholar
Skirton H, Eiser C. Discovering and addressing the client’s lay construct of genetic disease: an important aspect of genetic healthcare? Res Theory Nurs Pract An Int J 2003; 17:339–52.10.1891/rtnp.17.4.339.53195SkirtonHEiserCDiscovering and addressing the client’s lay construct of genetic disease: an important aspect of genetic healthcare?Res Theory Nurs Pract An Int J2003173395214960000Open DOISearch in Google Scholar
Rew L, Mackert M, Bonevac D. Cool, but is it credible? Adolescents’ and parents’ approaches to genetic testing. West J Nurs Res 2010; 32:610–627.10.1177/019394590936078120693337RewLMackertMBonevacDCool, but is it credible? Adolescents’ and parents’ approaches to genetic testingWest J Nurs Res201032610627Open DOISearch in Google Scholar
Rose AL, Peters N, Shea JA, Armstrong K. Attitudes and misconceptions about predictive genetic testing for cancer risk. A focus group study. Community Genet 2005; 8:145–51.RoseALPetersNSheaJAArmstrongKAttitudes and misconceptions about predictive genetic testing for cancer riskA focus group study. Community Genet200581455110.1159/000086757Search in Google Scholar
Frazier L, Calvin AO, Mudd GT, Cohen MZ (2006) Understanding of genetics among older adults. J Nurs Scholarsh 38:126–132.1677391510.1111/j.1547-5069.2006.00089.xFrazierLCalvinAOMuddGTCohenMZ2006Understanding of genetics among older adultsJ Nurs Scholarsh38126132Search in Google Scholar
Houfek JF, Soltis-Vaughan BS, Atwood JR, Reiser GM, Schaefer GB. Adults’ perceptions of genetic counseling and genetic testing. Appl Nurs Res 2015; 28: 25–30.10.1016/j.apnr.2014.03.00124794711HoufekJFSoltis-VaughanBSAtwoodJRReiserGMSchaeferGBAdults’ perceptions of genetic counseling and genetic testingAppl Nurs Res2015282530Open DOISearch in Google Scholar
https://www.encyclopedia.com/science-and-technology/biology-and-genetics/genetics-and-genetic-engineering/genetic-testinghttps://www.encyclopedia.com/science-and-technology/biology-and-genetics/genetics-and-genetic-engineering/genetic-testingSearch in Google Scholar
Burke W, Pinsky LE, Press NA. Categorizing genetic tests to identify their ethical, legal, and social implications. Am J Med Genet 2001; 106(3):233-240.1177898410.1002/ajmg.10011BurkeWPinskyLEPressNACategorizing genetic tests to identify their ethical, legal, and social implicationsAm J Med Genet20011063233240Search in Google Scholar
Blue GM, Kirk EP, Giannoulatou E, Dunwoodie SL, Ho JW, Hilton DC, White SM, Sholler GF, Harvey RP, Winlaw DS. Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. J Am Coll Cardiol 2014; 64(23): 2498–06.2550023510.1016/j.jacc.2014.09.048BlueGMKirkEPGiannoulatouEDunwoodieSLHoJWHiltonDCWhiteSMShollerGFHarveyRPWinlawDSTargeted next-generation sequencing identifies pathogenic variants in familial congenital heart diseaseJ Am Coll Cardiol20146423249806Search in Google Scholar
Mattassi R, Manara E, Colombo PG, Manara S, Porcella A, Bruno G, Bruson A, Bertelli M. Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management. J Vasc Surg 2018; 67(3):922-932.e11.2865555310.1016/j.jvs.2017.02.034MattassiRManaraEColomboPGManaraSPorcellaABrunoGBrusonABertelliMVariant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical managementJ Vasc Surg2018673922932Search in Google Scholar
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 2017; 49(11):1593–1601.2899125710.1038/ng.3970JinSCHomsyJZaidiSLuQMortonSDePalmaSRZengXQiHChangWSierantMCHungWCHaiderSZhangJKnightJBjornsonRDCastaldiCTikhonoaIRBilguvarKManeSMSandersSJMitalSRussellMWGaynorJWDeanfieldJGiardiniAPorterGA JrSrivastavaDLoCWShenYWatkinsWSYandellMYostHJTristani-FirouziMNewburgerJWRobertsAEKimRZhaoHKaltmanJRGoldmuntzEChungWKSeidmanJGGelbBDSeidmanCELiftonRPBruecknerMContribution of rare inherited and de novo variants in 2,871 congenital heart disease probandsNat Genet2017491115931601Search in Google Scholar
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation–arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation 2017; 136(11):1037-1048.10.1161/CIRCULATIONAHA.116.026886AmyereMRevencuNHelaersRPairetEBaselgaECordiscoMChungWDuboisJLacourJPMartorellLMazereeuw-HautierJPyeritzREAmorDJBisdorffABleiFBombeiHDompmartinABrooksDDupontJGonzález-EnseñatMAFriedenIGérardMKvarnungMHanson-KahnAKHudginsLLéauté-LabrèzeCMcCuaigCMetryDParentPPaulCPetitFPhanAQuereISalhiATurnerAVabresPVicenteAWargonOWatanabeSWeibelLWilsonAWillingMMullikenJBBoonLMVikkulaMGermline loss-of-function mutations in EPHB4 cause a second form of capillary malformation–arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signalingCirculation20171361110371048Open DOISearch in Google Scholar
Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363(9412): 852-9.10.1016/S0140-6736(04)15732-215031030GallioneCJRepettoGMLegiusERustgiAKSchelleySLTejparSMitchellGDrouinEWestermannCJMarchukDAA combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)Lancet200436394128529Open DOISearch in Google Scholar
Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJ, Pyeritz RE, Marchuk DA. SMAD4 mutations found in unselected HHT patients. J Med Genet 2006; 43(10): 793–797.10.1136/jmg.2006.04151716613914GallioneCJRichardsJALetteboerTGRushlowDPrigodaNLLeedomTPGangulyACastellsAPloos van AmstelJKWestermannCJPyeritzREMarchukDASMAD4 mutations found in unselected HHT patientsJ Med Genet20064310793797256317816613914Open DOISearch in Google Scholar
Akhurst RJ. Taking thalidomide out of rehab. Nat Med 2010; 16: 370–372.2037603910.1038/nm0410-370AkhurstRJTaking thalidomide out of rehabNat Med201016370372291763420376039Search in Google Scholar
Lebrin F, Srun S, Raymond K, Martin S, van den Brink S, Freitas C, Bréant C, Mathivet T, Larrivée B, Thomas JL, Arthur HM, Westermann CJ, Disch F, Mager JJ, Snijder RJ, Eichmann A, Mummery CL. Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. Nat Med 2010; 16(4):420–428.2036412510.1038/nm.2131LebrinFSrunSRaymondKMartinSvan den BrinkSFreitasCBréantCMathivetTLarrivéeBThomasJLArthurHMWestermannCJDischFMagerJJSnijderRJEichmannAMummeryCLThalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasiaNat Med201016442042820364125Search in Google Scholar
