Daniel C. Swan - Publications

The genetics of cholesteatoma study. Loss-of-function variants in an affected family.

Journal: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery

Published: January 17, 2019

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Journal: American journal of human genetics

Published: September 12, 2016

Improving and correcting the contiguity of long-read genome assemblies of three plant species using optical mapping and chromosome conformation capture data.

Journal: Genome research

Published: July 29, 2016

Emergence of wheat blast in Bangladesh was caused by a South American lineage of Magnaporthe oryzae.

Journal: BMC biology

Published: July 08, 2016

A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report.

Journal: BMC cancer

Published: October 20, 2015

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

Journal: Human mutation

Published: June 17, 2015

Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Journal: BMC genomics

Published: January 08, 2015

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

Journal: Orphanet journal of rare diseases

Published: September 25, 2013

Selenium alters miRNA profile in an intestinal cell line: evidence that miR-185 regulates expression of GPX2 and SEPSH2.

Journal: Molecular nutrition & food research

Published: March 07, 2013

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Journal: European journal of human genetics : EJHG

Published: February 07, 2013

An approach to describing and analysing bulk biological annotation quality: a case study using UniProtKB.

Journal: Bioinformatics (Oxford, England)

Published: September 11, 2012

Effects of Sirt1 on DNA methylation and expression of genes affected by dietary restriction.

Journal: Age (Dordrecht, Netherlands)

Published: July 15, 2012