2025
Allele-specific electrical genotyping for diagnosis of transthyretin amyloidosis
Tayyab M, Gandotra N, Sui J, Scharfe C, Javanmard M. Allele-specific electrical genotyping for diagnosis of transthyretin amyloidosis. Communications Engineering 2025, 4: 47. PMID: 40082707, PMCID: PMC11906782, DOI: 10.1038/s44172-025-00385-7.Peer-Reviewed Original ResearchAllele-specific polymerase chain reactionDNA input requirementsClinical genetic testingDNA variantsWest African ancestryVariant detectionOligonucleotide primersPCR productsGel electrophoresisVariant allelesAfrican ancestryGenetic testingDNA concentrationPolymerase chain reactionDNACongestive heart failureGenotypesChain reactionMicrofluidic impedance cytometryHereditary transthyretinTransthyretin amyloidosisHeart failureImpedance cytometryTransthyretinPrimers
2024
Clinical Genetic Testing in Nephrology: Core Curriculum 2024
Aron A, Dahl N. Clinical Genetic Testing in Nephrology: Core Curriculum 2024. American Journal Of Kidney Diseases 2024, 84: 632-645. PMID: 39340488, DOI: 10.1053/j.ajkd.2024.05.011.Peer-Reviewed Original ResearchClinical genetic testingGenetic testingRoutine diagnostic workup of patientsKidney diseaseDiagnostic workup of patientsDiagnostic yield of testingRoutine diagnostic workupWorkup of patientsRoutine nephrology careYield of testingGenetic resultsImprove careCore curriculumReduce barriersDiagnostic odysseyExtrarenal manifestationsDiagnostic yieldMonogenic etiologyPatient selectionReduce anxietyPatient populationNephrology careTreatment planningFamily planningSecondary findingsReview: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic
Fitzpatrick S, Antony I, Nurmi E, Fernandez T, Chung W, Brownstein C, Gonzalez-Heydrich J, Gur R, Merner A, Lázaro-Muñoz G, State M, Simon K, Hoffman E. Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic. JAACAP Open 2024, 3: 157-170. PMID: 40520982, PMCID: PMC12166933, DOI: 10.1016/j.jaacop.2024.06.002.Peer-Reviewed Original ResearchGenetic testingHigh-confidence risk genesPsychiatric geneticsApproaches to gene discoveryGenetic researchTranslational genetic researchClinical genetic testingEra of genomicsWhole-exome sequencingChild psychiatric disordersGenetic architectureGene discoveryClinical evaluationPharmacogenetic testingExome sequencingRisk genesGenetic underpinningsGenetic findingsEarly-onset psychosisPsychiatric disordersGenetic conceptsGeneticsLack of familiarityClinical practiceObsessive-compulsive disorder
2023
Women with pathogenic variants in moderate penetrance breast cancer genes: How frequently do they meet high penetrance genetic testing criteria?
Casasanta N, Soper E, Abul-Husn N. Women with pathogenic variants in moderate penetrance breast cancer genes: How frequently do they meet high penetrance genetic testing criteria? Journal Of Clinical Oncology 2023, 41: 10584-10584. DOI: 10.1200/jco.2023.41.16_suppl.10584.Peer-Reviewed Original ResearchGenetic testing criteriaNational Comprehensive Cancer Network criteriaNational Comprehensive Cancer NetworkBreast cancer genesClinical genetic testingGenetic testingPersonal historyPenetrance breast cancer genesBreast cancerPersonal history of breast cancerMP geneGenetic riskModerate penetranceBreast cancer predisposition genesCancer genetic testingCancer genesElectronic medical record reviewHigh-penetrance genesPathogenic variantsMedical record reviewGermline pathogenic variantsCancer predisposition genesAssociated with germline pathogenic variantsManagement of individualsComprehensive Cancer Network
2022
A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology
Aron AW, Dahl NK, Besse W. A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology. Kidney360 2022, 3: 1640-1651. PMID: 36245662, PMCID: PMC9528385, DOI: 10.34067/kid.0007552021.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsClinical genetic testingGenetic testingIdentification of pathogenic variantsLimitations of genetic testingKidney-related disordersOut-of-pocket costsRisks of testingVariant nomenclatureProvider educationPathogenic variantsGene panelPatient's desireDiagnosis of kidney diseaseProvidersFollow-up investigationKidney diseaseDiagnostic utilityDiagnostic limitationsKidney disordersValuable diagnostic toolUnknown etiologyGenetic risk allelesUndetermined causeGuide managementDiagnosis
2018
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome
Elfar W, Järvinen E, Ji W, Mosorin J, Sega AG, Iuga AC, Lobritto SJ, Konstantino M, Chan A, Finel M, Lakhani SA. A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome. Drug Metabolism And Disposition 2018, 47: 45-48. PMID: 30385458, DOI: 10.1124/dmd.118.084368.Peer-Reviewed Original ResearchConceptsUridine diphosphate glucuronosyltransferasesCrigler-Najjar syndromeSudanese childrenType I Crigler-Najjar syndromeSevere unconjugated hyperbilirubinemiaNovel homozygous variantClinical genetic testingAutosomal recessive disorderLiver transplantationClinical featuresPatient ethnicityHepatic enzymesUnconjugated hyperbilirubinemiaGlucuronidation activityGenetic testingBody's abilityHomozygous variantBilirubin conjugationRecessive disorderPatient variantsUGT1A1 variantsDisease phenotypeSanger sequencingUGT functionSyndromeThe Perils of Single‐Site Genetic Testing for Hereditary Cancer Syndromes in the Era of Next‐Generation Sequencing
Casasanta N, Stark E, McHenry A, Biagi T, Kaltman R. The Perils of Single‐Site Genetic Testing for Hereditary Cancer Syndromes in the Era of Next‐Generation Sequencing. The Oncologist 2018, 23: 393-396. PMID: 29445031, PMCID: PMC5896713, DOI: 10.1634/theoncologist.2017-0372.Peer-Reviewed Original ResearchConceptsHereditary cancer syndromesCancer syndromesGenetic testingExpanded panel testingOvarian cancer syndromeNational Comprehensive Cancer Network criteriaFemale breast cancerOptimal management of cancer patientsPanel testingClinical genetic testingHereditary genetic syndromesManagement of cancer patientsHereditary breastGenetic riskFamily historyGenetic counselingCell cycle checkpoint arrestCounseling patientsDouble-strand DNA break repairEra of next-generation sequencingBreast cancerNetwork criteriaClinical managementClinical significanceFamily members
2017
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017
Giri VN, Knudsen KE, Kelly WK, Abida W, Andriole GL, Bangma CH, Bekelman JE, Benson MC, Blanco A, Burnett A, Catalona WJ, Cooney KA, Cooperberg M, Crawford DE, Den RB, Dicker AP, Eggener S, Fleshner N, Freedman ML, Hamdy FC, Hoffman-Censits J, Hurwitz MD, Hyatt C, Isaacs WB, Kane CJ, Kantoff P, Karnes RJ, Karsh LI, Klein EA, Lin DW, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann MJ, Mark JR, McCue PA, Miner MM, Morgan T, Moul JW, Myers RE, Nielsen SM, Obeid E, Pavlovich CP, Peiper SC, Penson DF, Petrylak D, Pettaway CA, Pilarski R, Pinto PA, Poage W, Raj GV, Rebbeck TR, Robson ME, Rosenberg MT, Sandler H, Sartor O, Schaeffer E, Schwartz GF, Shahin MS, Shore ND, Shuch B, Soule HR, Tomlins SA, Trabulsi EJ, Uzzo R, Vander Griend DJ, Walsh PC, Weil CJ, Wender R, Gomella LG. Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017. Journal Of Clinical Oncology 2017, 36: jco.2017.74.117. PMID: 29236593, PMCID: PMC6075860, DOI: 10.1200/jco.2017.74.1173.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsProstate cancerGenetic testingMetastatic castration-resistant prostate cancerCastration-resistant prostate cancerAggressive prostate cancerProstate cancer riskGenetic counselingMultidisciplinary consensus statementDNA mismatch repair genesExpert consensus conferenceFamilial prostate cancerHereditary prostate cancerClinical genetic testingMismatch repair genesMetastatic settingPCa managementLynch syndromeOvarian cancerBRCA2 mutationsConsensus statementFamily historyCancer riskHeterogeneous diseaseConsensus conferenceComprehensive genetic evaluation
2015
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
Ovarian Cancer Association Consortium B, Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A, Group A, Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H, Register B, Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KBM, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dos Santos Silva I, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD, EMBRACE, Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA, Collaborators G, Network G, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TVO, Harter P, Hartikainen JM, Healey S, HEBON, Hein A, Heitz F, Henderson BE, Herzog J, Hildebrandt M, Høgdall CK, Høgdall E, Hogervorst FBL, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N, Investigators K, Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, L. P, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JWM, Massuger LFAG, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MWR, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, Siddiqui N, Sieh W, Simard J, Singer CF, Sinilnikova OM, Smeets D, Sohn C, Soller M, Song H, Soucy P, Southey MC, Stegmaier C, Stoppa-Lyonnet D, Sucheston L, SWE-BRCA, Swerdlow A, Tangen IL, Tea MK, Teixeira MR, Terry KL, Terry MB, Thomassen M, Thompson PJ, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Tsimiklis H, Tung N, Tworoger SS, Tyrer JP, Vachon CM, Van 't Veer LJ, van Altena AM, Van Asperen CJ, van den Berg D, van den Ouweland AMW, van Doorn HC, Van Nieuwenhuysen E, van Rensburg EJ, Vergote I, Verhoef S, Vierkant RA, Vijai J, Vitonis AF, von Wachenfeldt A, Walsh C, Wang Q, Wang-Gohrke S, Wappenschmidt B, Weischer M, Weitzel JN, Weltens C, Wentzensen N, Whittemore AS, Wilkens LR, Winqvist R, Wu AH, Wu X, Yang HP, Zaffaroni D, Zamora M, Zheng W, Ziogas A, Chenevix-Trench G, Pharoah PDP, Rookus MA, Hooning MJ, Goode EL. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecologic Oncology 2015, 141: 386-401. PMID: 25940428, PMCID: PMC4630206, DOI: 10.1016/j.ygyno.2015.04.034.Peer-Reviewed Original ResearchConceptsBreast cancer riskBreast cancerClinical outcomesOvarian cancerCancer riskClinical utilityBreast Cancer Association ConsortiumOvarian Cancer Association ConsortiumClinical genetic testingOverall survivalMutation carriersSurvival timeSuggested associationsCancerGenetic testingParticular subgroupRs61764370RiskAssociationOutcomesPrior studiesPatientsWomen
2008
Uptake of clinical genetic testing for ovarian cancer in Ontario: A population-based study
Metcalfe KA, Fan I, McLaughlin J, Risch HA, Rosen B, Murphy J, Bradley L, Armel S, Sun P, Narod SA. Uptake of clinical genetic testing for ovarian cancer in Ontario: A population-based study. Gynecologic Oncology 2008, 112: 68-72. PMID: 19019415, PMCID: PMC3074978, DOI: 10.1016/j.ygyno.2008.10.007.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerClinical genetic testingOvarian cancerGenetic testingGenetic test resultsBlood samplesPositive genetic test resultOntario Cancer RegistryPopulation-based studyEpithelial ovarian cancerProportion of womenCancer RegistryRisk factorsBRCA2 mutationsClinical testingCancerWomenBRCA2BRCA1Small proportionPrevious testingMutationsPatientsTestingRegistry
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