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Intergenic disease-associated regions are abundant in novel transcripts.

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Melanocyte transformation requires complete loss of all pocket protein function via a mechanism that mitigates the need for MAPK pathway activation.

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Journal of the European Academy of Dermatology and Venereology : JEADV·2015

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma.

Clinical genetics·2014

A chick neural antigen identified by monoclonal antibodies.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience·2014

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

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CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

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TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

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The Russian FSHD registry: a first look at the cohort.

Human genetics·2026

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

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Delimitation of the wild banana Musa acuminata subspecific complex (Musaceae) in Thailand.

PhytoKeys·2026

New taxa of the tribe Apomecynini (Coleoptera: Cerambycidae: Lamiinae) from Mexico.

Zootaxa·2026

Review of the Chinese Megahyliota Thomas, 2004 (Coleoptera: Silvanidae: Brontinae), with description of a new species.

Zootaxa·2026

Revision of the Simulium (Simulium) multistriatum species-group (Diptera: Simuliidae) in Sumatra, Indonesia: Descriptions of three new species and a redescription of the male and pupa of S. (S.) fenestratum Edwards.

Tropical biomedicine·2026

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Anais brasileiros de dermatologia·2026

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TaqI polymorphism within the c-Ha-ras-1 VTR is associated with melanoma

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Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

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