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Issue Date	Title	Journal Title
2011	Association of a genetic variant of BTN2A1 with metabolic syndrome in East Asian populations	JOURNAL OF MEDICAL GENETICS
2015	Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.	JOURNAL OF MEDICAL GENETICS
2023	Genotypes and phenotypes of DNM1 encephalopathy	JOURNAL OF MEDICAL GENETICS
2008	Heterogeneity in the processing defect of SLC26A4 mutants.	JOURNAL OF MEDICAL GENETICS