2024
An algorithm to identify patients aged 0–3 with rare genetic disorders
Webb B, Lau L, Tsevdos D, Shewcraft R, Corrigan D, Shi L, Lee S, Tyler J, Li S, Wang Z, Stolovitzky G, Edelmann L, Chen R, Schadt E, Li L. An algorithm to identify patients aged 0–3 with rare genetic disorders. Orphanet Journal Of Rare Diseases 2024, 19: 183. PMID: 38698482, PMCID: PMC11064409, DOI: 10.1186/s13023-024-03188-9.Peer-Reviewed Original ResearchConceptsAged 0Electronic medical record dataIncreased riskMedical record dataMedical diagnosis codesChart reviewElectronic medical recordsChildren Aged 0Diagnostic genetic testingGenetic disordersAlerting providersPatients aged 0Medical geneticistsPhenotyping algorithmsDiagnosis codesRecord dataGenetic testingMedical recordsLive birthsDisorder diagnosisRare genetic disordersIncompleteness of recordsMendelian disordersClinical symptomsExpert opinion
2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Pinto e Vairo F, Kemppainen J, Vitek C, Whalen D, Kolbert K, Sikkink K, Kroc S, Kruisselbrink T, Shupe G, Knudson A, Burke E, Loftus E, Bandel L, Prochnow C, Mulvihill L, Thomas B, Gable D, Graddy C, Garzon G, Ekpoh I, Porquera E, Fervenza F, Hogan M, El Ters M, Warrington K, Davis J, Koster M, Orandi A, Basiaga M, Vella A, Kumar S, Creo A, Lteif A, Pittock S, Tebben P, Abate E, Joshi A, Ristagno E, Patnaik M, Schimmenti L, Dhamija R, Sabrowsky S, Wierenga K, Keddis M, Samadder N, Presutti R, Robinson S, Stephens M, Roberts L, Faubion W, Driscoll S, Wong-Kisiel L, Selcen D, Flanagan E, Ramanan V, Jackson L, Mauermann M, Ortega V, Anderson S, Aoudia S, Klee E, McAllister T, Lazaridis K. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). Journal Of Translational Medicine 2023, 21: 410. PMID: 37353797, PMCID: PMC10288779, DOI: 10.1186/s12967-023-04183-7.Peer-Reviewed Original ResearchConceptsMayo Clinic programGenetic counselorsGenetic testingImplementation of genomic medicineSubspecialty practiceGenetic counseling assistantsClinical programsUndiagnosed diseaseClinical service modelGenetic test resultsTertiary healthcare systemGenetic nursesMedical managementMulti-gene panelHealthcare providersSubspecialty providersTargeted genetic testingMedical geneticistsHealthcare systemImprove accessGenomic medicineProgram expansionGenetic counselingRare diseaseTest facilitatorContributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Peña L, Burrage L, Enns G, Esplin E, Harding C, Mendell J, Niu Z, Scharfe C, Yu T, Koeberl D, Committee A. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2023, 25: 100831. PMID: 37031408, PMCID: PMC11040261, DOI: 10.1016/j.gim.2023.100831.Peer-Reviewed Original Research
2015
Practical considerations in the clinical application of whole‐exome sequencing
Shashi V, McConkie‐Rosell A, Schoch K, Kasturi V, Rehder C, Jiang YH, Goldstein DB, McDonald MT. Practical considerations in the clinical application of whole‐exome sequencing. Clinical Genetics 2015, 89: 173-181. PMID: 25678066, DOI: 10.1111/cge.12569.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingClinical informationMedical genetics practiceWES resultsUtility of WESMolecular diagnostic rateClinical whole exome sequencingMedical geneticistsAdditional laboratory testsRetrospective studyDefinite diagnosisClinical dataLikely diagnosisPossible diagnosisClinical categoriesDiagnostic rateFurther laboratory testingPatientsUncertain significanceGenetic practiceDiagnosisClinical applicationFamily membersLaboratory resultsLaboratory testing
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