2021
Exome sequencing in paediatric patients with movement disorders
Kwong AK, Tsang MH, Fung JL, Mak CC, Chan KL, Rodenburg RJT, Lek M, Huang S, Pajusalu S, Yau MM, Tsoi C, Fung S, Liu KT, Ma CK, Wong S, Yau EK, Tai SM, Fung EL, Wu NS, Tsung LY, Smeitink J, Chung BH, Fung CW. Exome sequencing in paediatric patients with movement disorders. Orphanet Journal Of Rare Diseases 2021, 16: 32. PMID: 33446253, PMCID: PMC7809769, DOI: 10.1186/s13023-021-01688-6.Peer-Reviewed Original ResearchConceptsMovement disordersWhole-exome sequencingPediatric patientsPotential treatment implicationsGlobus pallidus interna deep brain stimulationGenetic diagnosisExome sequencingTreatment implicationsDeep brain stimulationEffective clinical managementHeterogeneous neurological diseasesClinical improvementHypokinetic disordersClinical managementDiagnostic yieldHyperkinetic disorderDisease-causing variantsBrain stimulationPatientsNeurological diseasesCohortDisordersDiagnosisGenetic etiologyPrecision medicine
2015
Investigation of the 53 Markers in a DNA-Based Prognostic Test Revealing New Predisposition Genes for Adolescent Idiopathic Scoliosis
Xu L, Huang S, Qin X, Mao S, Qiao J, Qian BP, Qiu Y, Zhu Z. Investigation of the 53 Markers in a DNA-Based Prognostic Test Revealing New Predisposition Genes for Adolescent Idiopathic Scoliosis. Spine 2015, 40: 1086-1091. PMID: 25811265, DOI: 10.1097/brs.0000000000000900.Peer-Reviewed Original ResearchConceptsNew predisposition genesSingle nucleotide polymorphismsAssociation studiesGene-based association studyPredisposition genesGenetic association studiesEtiology of AISGenesNucleotide polymorphismsSusceptibility of AISDNA samplesDifferent pathwaysInvader assayDifferences of genotypeAllele APopulation summariesAllele distributionCentral neural systemAllele GMultifactorial diseaseAllele CGenotype frequenciesAllele T