2024
Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey
Yilmaz B, Akgun-Dogan O, Ozdemir O, Yuksel B, Ng O, Bilguvar K, Ay B, Ozkose G, Aydin E, Yigit A, Bulut A, Esen F, Beken S, Aktas S, Demirel A, Arcagok B, Kazanci E, Bingol İ, Umur O, Sik G, Isik U, Ersoy M, Korkmaz A, Citak A, Mardinoglu A, Ozbek U, Alanay Y. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey. Frontiers In Pediatrics 2024, 12: 1412880. PMID: 39026936, PMCID: PMC11254770, DOI: 10.3389/fped.2024.1412880.Peer-Reviewed Original ResearchRapid genome sequencingHospital settingReducing unnecessary interventionsImprove patient careCost-effective approach to diagnosisTurkish healthcare systemClinical managementNext-generation sequencingPatient careHealthcare systemCritically ill infantsInclusion criteriaPediatric ICU patientsDelivery of resultsInfant morbidityMendelian conditionsDiagnostic odysseyApproach to diagnosisGenetic conditionsPilot studyUnnecessary interventionsTen infantsGenome sequenceDiagnostic yieldCongenital abnormalities
2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Akdemir Z, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Genomics C, Bamshad MJ. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal Of Human Genetics 2015, 97: 199-215. PMID: 26166479, PMCID: PMC4573249, DOI: 10.1016/j.ajhg.2015.06.009.Peer-Reviewed Original ResearchConceptsMendelian phenotypesGenetic basisLarge-scale whole-exome sequencingMendelian conditionsGene functionGene regulationGenomic dataWhole-exome sequencingMendelian GenomicsGenesPhenotypic characterizationNovel mechanismExtensive clinical variabilityGenetic variantsPhenotypePervasive sharingBiological mechanismsSequencingNew therapeuticsSuch discoveriesFamilyDiscoveryHuman healthGenomicsClinical variability