2023
Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery
Gong Y, Wu Q, Huang S, Fu Z, Ye J, Liu R, Lin S, Guan W, Yang N, Li J, Liang H, Zhou H. Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery. Advanced Biology 2023, 7: e2300007. PMID: 37140139, DOI: 10.1002/adbi.202300007.Peer-Reviewed Original ResearchConceptsMorbid obese patientsMC4R variantsObese patientsWeight lossExcess weight lossCommon genetic causeBariatric surgeryMetabolic surgeryObesity cohortObese populationMonths postsurgeryPatientsSurgery proceduresPersonalized treatmentFunction variantsSurgeryGenetic causeG233V103IR165WCohortLarge size cohortObesityPostsurgeryEWL
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