Featured Publications
Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective.
Lakhani SA, Pierce R. Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective. Current Opinion In Pediatrics 2019, 31: 317-321. PMID: 31090571, DOI: 10.1097/mop.0000000000000754.Peer-Reviewed Original ResearchConceptsPediatric intensivistsIll childrenCritical care pediatriciansFirst clinical diagnosisTypes of patientsWhole-exome sequencingSevere congenital diseaseUnderlying genetic causePatient's conditionIllness perspectiveUndiagnosed diseasePatientsDescriptive diagnosisClinical diagnosisCongenital diseaseGenetic testingGenetic abnormalitiesDiagnosisExome sequencingGenetic causeNext-generation sequencingClinical geneticistsIntensivistsGenetic diagnosisDisease
2020
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
Brodsky NN, Boyarchuk O, Kovalchuk T, Hariyan T, Rice A, Ji W, Khokha M, Lakhani S, Lucas CL. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. Journal Of Human Genetics 2020, 65: 911-915. PMID: 32435055, DOI: 10.1038/s10038-020-0776-0.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAngiomatosisBrain NeoplasmsCardiomegalyChild, PreschoolExome SequencingFibrosisHeterozygoteHumansIntracellular Signaling Peptides and ProteinsLung DiseasesMaleModels, MolecularNeurodegenerative DiseasesPedigreePoint MutationProtein ConformationProtein DomainsSequence AlignmentSequence Homology, Amino AcidSyndromeConceptsWhole-exome sequencingNovel compound heterozygous variantsCompound heterozygous variantsUkrainian patientsClinical featuresNovel variantsNew patientsHealthy humansCompound heterozygous combinationPatientsHeterozygous variantsSyndromeFinnish childrenNHLRC2Sanger sequencingFibrosisDiseaseGnomAD databaseN-terminal thioredoxinCentral regulatorVariantsNeurodegeneration