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Issue Date	Title	Journal Title
2022	Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity	AMERICAN JOURNAL OF HUMAN GENETICS
2016	Mutations in SLC26A1 Cause Nephrolithiasis.	AMERICAN JOURNAL OF HUMAN GENETICS
2019	Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy	AMERICAN JOURNAL OF HUMAN GENETICS
2017	Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia	AMERICAN JOURNAL OF HUMAN GENETICS
2011	Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type	AMERICAN JOURNAL OF HUMAN GENETICS