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Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun 12, 2282 (2021).
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. Ann Hum Genet 82, 129-134 (2018).
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. Int J Dermatol 55, 524-30 (2016).
The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet 104, 356 (2019).
The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet 103, 930-947 (2018).
Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis. JAAD Case Rep 6, 1110-1112 (2020).