Featured Publications
Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis
Farshidfar F, Rhrissorrakrai K, Levovitz C, Peng C, Knight J, Bacchiocchi A, Su J, Yin M, Sznol M, Ariyan S, Clune J, Olino K, Parida L, Nikolaus J, Zhang M, Zhao S, Wang Y, Huang G, Wan M, Li X, Cao J, Yan Q, Chen X, Newman AM, Halaban R. Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis. Nature Communications 2022, 13: 898. PMID: 35197475, PMCID: PMC8866401, DOI: 10.1038/s41467-022-28566-4.Peer-Reviewed Original ResearchConceptsAcral melanomaMelanoma subtypesClinical profilingCommon melanoma subtypeImmune checkpoint blockadeCheckpoint blockadeInferior survivalMelanoma cell linesKey molecular driversPoor prognosisTherapeutic targetAnchorage-independent growthImmunomodulatory genesNon-white individualsHotspot mutationsMolecular driversCandidate oncogeneMelanomaApoptotic cell deathLZTR1Focal amplificationTumor promoterCell linesMetastasisTumor suppressor
2023
Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma
Chong M, Knight J, Peng G, Ji W, Chai H, Lu Y, Wu S, Li P, Hu Q. Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma. Cancer Genetics 2023, 276: 30-35. PMID: 37418972, DOI: 10.1016/j.cancergen.2023.06.002.Peer-Reviewed Original ResearchConceptsTumor mutation burdenWhole-exome sequencingGrade IIIHepatocellular carcinomaCNA burdenCase seriesBarcelona Clinic Liver Cancer stageExome sequencingBCLC stage CLiver Cancer stageEdmondson-Steiner gradingLarge case seriesGenetic defectsHigher CNA burdenAdjacent nontumor tissuesΒ-catenin pathwayBetter prognosisClinicopathologic findingsPoor prognosisClinicopathologic classificationCancer stageSurvival statusMutation burdenStage CPrognostic prediction
2018
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. Neuron 2018, 99: 302-314.e4. PMID: 29983323, PMCID: PMC7839075, DOI: 10.1016/j.neuron.2018.06.019.Peer-Reviewed Original ResearchMeSH KeywordsCohort StudiesExomeExome SequencingFemaleHumansHydrocephalusMaleMutationNeural Stem CellsPatched-1 ReceptorPedigreeTranscription FactorsConceptsCongenital hydrocephalusNeural stem cell fateHuman congenital hydrocephalusDamaging de novoCerebrospinal fluid homeostasisSubstantial morbidityCH patientsTherapeutic ramificationsSignificant burdenBrain ventriclesCH pathogenesisNeural tube developmentFluid homeostasisDe novo mutationsExome sequencingAdditional probandsHydrocephalusPathogenesisNovo mutationsNovo duplicationProbandsDe novoCell fateMorbidityPatients