2025
Personalized Treatment in Ovarian Cancer: A Review of Disease Monitoring, Biomarker Expression, and Targeted Treatments for Advanced, Recurrent Ovarian Cancers
Ettorre V, AlAshqar A, Sethi N, Santin A. Personalized Treatment in Ovarian Cancer: A Review of Disease Monitoring, Biomarker Expression, and Targeted Treatments for Advanced, Recurrent Ovarian Cancers. Cancers 2025, 17: 1822. PMID: 40507303, PMCID: PMC12153853, DOI: 10.3390/cancers17111822.Peer-Reviewed Original ResearchThis study investigates the role of biomarkers like CA125 and circulating tumor DNA, and promising advances in personalized treatment for recurrent ovarian cancer with targeted therapies.Characterizing Rare DNA Copy-Number Variants in Pediatric Obsessive-Compulsive Disorder
Abdallah S, Olfson E, Cappi C, Greenspun S, Zai G, Rosário M, Willsey A, Shavitt R, Miguel E, Kennedy J, Richter M, Fernandez T. Characterizing Rare DNA Copy-Number Variants in Pediatric Obsessive-Compulsive Disorder. Journal Of The American Academy Of Child & Adolescent Psychiatry 2025 PMID: 40122455, DOI: 10.1016/j.jaac.2025.03.014.Peer-Reviewed Original ResearchCopy-number variantsWhole-exome DNA sequencingEXome-Hidden Markov ModelDetect copy-number variantsSingle-nucleotide variantsGenetic factorsWhole-exome sequencingExamination of genesBiological systems analysisTrio familiesDNA sequencesMicroarray dataOCD riskBurden analysisBiological processesGenesSequenceVariantsObsessive-compulsive disorderPrimary analysisXHMMPediatric obsessive-compulsive disorderCompared to controlsFamilySilicoCFTR haplotype phasing using long-read genome sequencing from ultralow input DNA
Gandotra N, Tyagi A, Tikhonova I, Storer C, Scharfe C. CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA. Genetics In Medicine Open 2025, 3: 101962. PMID: 40027236, PMCID: PMC11869909, DOI: 10.1016/j.gimo.2025.101962.Peer-Reviewed Original ResearchLong-read genome sequencingSingle-nucleotide variantsHaplotype phasingGenome sequencePathogenic variantsSmall indelsShort-read genome sequencing dataDNA inputShort-read sequencingGenome sequence dataPoly-T tractRare pathogenic variantsGenetic disease screeningIdentified compound heterozygosityGenomic distanceLibrary preparationGenomic variantsAllelic phaseCystic fibrosis patientsSequence dataInput DNAGenotype concordanceGenomic DNAStructural variantsSingle-nucleotide
2024
Saturation mutagenesis-reinforced functional assays for disease-related genes
Ma K, Huang S, Ng K, Lake N, Joseph S, Xu J, Lek A, Ge L, Woodman K, Koczwara K, Cohen J, Ho V, O'Connor C, Brindley M, Campbell K, Lek M. Saturation mutagenesis-reinforced functional assays for disease-related genes. Cell 2024, 187: 6707-6724.e22. PMID: 39326416, PMCID: PMC11568926, DOI: 10.1016/j.cell.2024.08.047.Peer-Reviewed Original ResearchDisease-related genesDisease-causing genetic variantsGenome-wide resolutionMutation scanning methodsSingle-nucleotide variantsDeep mutational scanning methodFunctional assaysDisease genesComputational predictorsSaturation mutagenesisHuman geneticsGenetic variantsGenesVariantsSmurfAssayMutagenesisLARGE1GeneticsDisease severityExpanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Jurgens J, Barry B, Chan W, MacKinnon S, Whitman M, Ruiz P, Pratt B, England E, Pais L, Lemire G, Groopman E, Glaze C, Russell K, Singer-Berk M, Di Gioia S, Lee A, Andrews C, Shaaban S, Wirth M, Bekele S, Toffoloni M, Bradford V, Foster E, Berube L, Rivera-Quiles C, Mensching F, Sanchis-Juan A, Fu J, Wong I, Zhao X, Wilson M, Weisburd B, Lek M, Consortium O, Abarca-Barriga H, Al-Haddad C, Berman J, Bothun E, Capasso J, Chacon-Camacho O, Chang L, Christiansen S, Ciccarelli M, Cordonnier M, Cox G, Curry C, Dagi L, Dahm T, David K, Davitt B, De Berardinis T, Demer J, Désir J, D’Esposito F, Drack A, Eggenberger E, Elder J, Elliott A, Epley K, Feldman H, Ferreira C, Flaherty M, Fulton A, Gerth-Kahlert C, Gottlob I, Grill S, Halliday D, Hanisch F, Hay E, Heidary G, Holder C, Horton J, Iannaccone A, Isenberg S, Johnston S, Kahana A, Katowitz J, Kazlas M, Kerr N, Kimonis V, Ko M, Koc F, Larsen D, Lay-Son G, Ledoux D, Levin A, Levy R, Lyons C, Mackey D, Magli A, Mantagos I, Marti C, Maystadt I, McKenzie F, Menezes M, Mikail C, Miller D, Miller K, Mills M, Miyana K, Moller H, Mullineaux L, Nishimura J, Noble A, Pandey P, Pavone P, Penzien J, Petersen R, Phalen J, Poduri A, Polo C, Prasov L, Ramos F, Ramos-Caceres M, Robb R, Rossillion B, Sahin M, Singer H, Smith L, Sorkin J, Soul J, Staffieri S, Stalker H, Stasheff S, Strassberg S, Strominger M, Taranath D, Thomas I, Traboulsi E, Ugrin M, VanderVeen D, Vincent A, G M, Wabbels B, Wong A, Woods C, Wu C, Yang E, Yeung A, Young T, Zenteno J, Zubcov-Iwantscheff A, Zwaan J, Brand H, Talkowski M, MacArthur D, O’Donnell-Luria A, Robson C, Hunter D, Engle E. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genetics In Medicine 2024, 27: 101216. PMID: 39033378, PMCID: PMC11739428, DOI: 10.1016/j.gim.2024.101216.Peer-Reviewed Original ResearchCongenital cranial dysinnervation disordersPrioritized variantsProtein-coding regionsSingle-nucleotide variantsDe novo variantsAnimal model phenotypesGenetically heterogeneous disorderAnalysis of pedigreesGenes associated with syndromesGenome sequenceStructural variantsMendelian conditionsModel phenotypesGenotype/phenotype correlationGenetic etiologyGenotype/phenotype associationsPathogenic variant(sGenesFunctional studiesSyndrome phenotypeSyndrome componentsPhenotypeGeneticsProbandsVariantsPathogen diversity and antimicrobial resistance transmission of Salmonella enterica serovars Typhi and Paratyphi A in Bangladesh, Nepal, and Malawi: a genomic epidemiological study
Dyson Z, Ashton P, Khanam F, Chirambo A, Shakya M, Meiring J, Tonks S, Karkey A, Msefula C, Clemens J, Dunstan S, Baker S, Dougan G, Pitzer V, Basnyat, Qadri F, Heyderman R, Gordon M, Pollard A, Holt K, Group S, Banda H, Biswas P, Bhuiyan A, Blohmke C, Darton T, Dolecek C, Dongol S, Mujadidi Y, Hill J, Hoang N, Jere T, Mbewe M, Msuku H, Nga T, Nkhata R, Rahman S, Rahman N, Saad N, Tan T, Thindwa D, Voysey M, Wachepa R. Pathogen diversity and antimicrobial resistance transmission of Salmonella enterica serovars Typhi and Paratyphi A in Bangladesh, Nepal, and Malawi: a genomic epidemiological study. The Lancet Microbe 2024, 5: 100841. PMID: 38996496, PMCID: PMC11300424, DOI: 10.1016/s2666-5247(24)00047-8.Peer-Reviewed Original ResearchParatyphi ASerovars TyphiPathogenic variantsAntimicrobial resistanceSalmonella enterica serovar TyphiEnteric feverAncestral state reconstructionS paratyphi ADeterminants of antimicrobial resistanceSingle-nucleotide variantsAntimicrobial resistance determinantsQuinolone-resistance mutationsAntimicrobial resistance transmissionCore genomePhylogenomic analysisAzithromycin resistance mutationsPhylogenetic analysisGenomic dataPopulation structurePathogen diversityS typhiTransmission of resistant strainsGenomic epidemiologyAntimicrobial resistant infectionsAge groupsExploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts
Garzón Rodríguez N, Briceño-Balcázar I, Nicolini H, Martínez-Magaña J, Genis-Mendoza A, Flores-Lázaro J, Villatoro Velázquez J, Bustos Gamiño M, Medina-Mora M, Quiroz-Padilla M. Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts. Journal Of Human Genetics 2024, 69: 373-380. PMID: 38714835, PMCID: PMC11269173, DOI: 10.1038/s10038-024-01246-5.Peer-Reviewed Original ResearchGenome-wide association analysisSingle-nucleotide polymorphismsSingle-nucleotide variantsSingle-nucleotideRisk-associated lociGenome-wide significanceRisk single-nucleotide polymorphismsAttention deficit hyperactivity disorderLocal ancestryAssociation lociIntergenic regionAdmixture proportionsAncestral componentsGenomic ancestryAssociation analysisAncestry levelsEuropean ancestryGenetic associationEuropean componentDeficit hyperactivity disorderAncestryGenomeGenesGenetic susceptibilityHyperactivity disorder
2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Tenney A, Di Gioia S, Webb B, Chan W, de Boer E, Garnai S, Barry B, Ray T, Kosicki M, Robson C, Zhang Z, Collins T, Gelber A, Pratt B, Fujiwara Y, Varshney A, Lek M, Warburton P, Van Ryzin C, Lehky T, Zalewski C, King K, Brewer C, Thurm A, Snow J, Facio F, Narisu N, Bonnycastle L, Swift A, Chines P, Bell J, Mohan S, Whitman M, Staffieri S, Elder J, Demer J, Torres A, Rachid E, Al-Haddad C, Boustany R, Mackey D, Brady A, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg G, Raskin S, Sato M, Orkin S, Parker S, Hadlock T, Vissers L, van Bokhoven H, Jabs E, Collins F, Pennacchio L, Manoli I, Engle E. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature Genetics 2023, 55: 1149-1163. PMID: 37386251, PMCID: PMC10335940, DOI: 10.1038/s41588-023-01424-9.Peer-Reviewed Original ResearchConceptsSingle-nucleotide variantsGATA2 expressionHereditary congenital facial paresisBranchial motor neuronsLoss of GATA3Temporal gene regulationRare Mendelian diseasesChromosome 3q21-q22Autosomal dominant disorderSilencing in vitroNoncoding variationNoncoding variantsFacial paresisMendelian diseasesGene regulationRegulatory regionsHeterozygous duplicationDominant disorderMouse modelReporter expressionType 1Efferent neuronsMotor neuronsGATA2In vivo
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply