2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry
Rabin R, Hirsch Y, Booth K, Hall P, Yachelevich N, Mistry P, Ekstein J, Pappas J. ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry. American Journal Of Medical Genetics Part A 2024, 197: e63919. PMID: 39473378, DOI: 10.1002/ajmg.a.63919.Peer-Reviewed Original ResearchIndividuals of Ashkenazi Jewish descentAshkenazi Jewish descentARSA geneIndividuals of Ashkenazi Jewish ancestryFounder variantAshkenazi Jewish populationJewish descentAshkenazi Jewish ancestryBi-allelic pathogenic variantsCompound heterozygous stateNeurodegenerative lysosomal storage diseaseGait abnormalitiesPhysical declineScreening programProtein modelsMetachromatic leukodystrophyPathogenic variantsJewish ancestryCompound heterozygosityLysosomal storage diseaseGenesArsAHeterozygous stateSevere phenotypeLate infantile metachromatic leukodystrophy
2021
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource
Iwaki H, Leonard H, Makarious M, Bookman M, Landin B, Vismer D, Casey B, Gibbs J, Hernandez D, Blauwendraat C, Vitale D, Song Y, Kumar D, Dalgard C, Sadeghi M, Dong X, Misquitta L, Scholz S, Scherzer C, Nalls M, Biswas S, Singleton A, Associates U, Group A, consortium A. Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource. Movement Disorders 2021, 36: 1795-1804. PMID: 33960523, PMCID: PMC8453903, DOI: 10.1002/mds.28549.Peer-Reviewed Original ResearchConceptsWhole-genome sequencing dataSequence dataAnalysis of whole-genome sequencing dataParkinson's Disease programPolygenic risk scoresDiagnosis of participantsIdiopathic PD groupAshkenazi Jewish ancestryEvidence of dopamine deficitRNA expression dataDemocratize data accessDisease programsExpression dataCohort studyGBA variantsRisk scoreJoint genotypesPathogenic variantsPD research communityParkinson's diseaseGenetic componentLRRK2 variantsJewish ancestryPD subjectsCohort
2020
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Daly M, Pilarski R, Yurgelun M, Berry M, Buys S, Dickson P, Domchek S, Elkhanany A, Friedman S, Garber J, Goggins M, Hutton M, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton J, Mak J, Menendez C, Merajver S, Norquist B, Offit K, Pal T, Pederson H, Reiser G, Shannon K, Visvanathan K, Weitzel J, Wick M, Wisinski K, Dwyer M, Darlow S. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. Journal Of The National Comprehensive Cancer Network 2020, 18: 380-391. PMID: 32259785, DOI: 10.6004/jnccn.2020.0017.Peer-Reviewed Original ResearchConceptsGenetic/Familial High-Risk AssessmentHigh-risk assessmentGenetic testingNCCN Guidelines InsightsHereditary cancer syndromesHigh-penetrance genesNCCN panelNCCN guidelinesSystemic therapyAshkenazi Jewish ancestryMost recent recommendationsRelevant new dataPancreatic cancerOvarian cancerCancer syndromesRecent recommendationsCancerBreastSyndromeOvarianManagement recommendationsJewish ancestryRisk management recommendations
2018
Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study.
Hall M, Patrick-Miller L, Egleston B, Domchek S, Daly M, Ganschow P, Grana G, Olopade O, Fetzer D, Brandt A, Chambers R, Clark D, Forman A, Gaber R, Gulden C, Horte J, Long J, Lucas T, Madaan S, Mattie K, McKenna D, Montgomery S, Nielsen S, Powers J, Rainey K, Rybak C, Savage M, Seelaus C, Stoll J, Stopfer J, Yao X, Bradbury A. Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study. JCO Precision Oncology 2018, 2: 1-12. PMID: 31819920, PMCID: PMC6901130, DOI: 10.1200/po.18.00199.Peer-Reviewed Original ResearchMultigene panel testingCommunication of genetic test resultsGenetic test resultsPatient-reported outcomesCancer-specific distressMultigene panelsGenetics providersState anxietyDisclosure of genetic test resultsTelephone studyCancer genetic testingIn-person disclosureHistory of cancerTargeted testingAshkenazi Jewish ancestryIn-personDemographic adjustmentCancer susceptibilityPre-disclosureGenetic knowledgeGenetic testingGenetic counselingLower anxietyJewish ancestryTelephone
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