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Human Mutation|February 28, 2016
What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and DatabasesVéronique Tack, Zandra C Deans, Nicola Wolstenholme, et al.
Human Mutation|September 29, 2015
Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target SitesHuajie Bu, Narisu Narisu, Bettina Schlick, et al.
Human Mutation|August 11, 2015
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesOrion J Buske, François Schiettecatte, Benjamin Hutton, et al.
Human Mutation|August 11, 2015
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and SecretionJinsei Jung, Han Sang Kim, Min Goo Lee, et al.
Human Mutation|October 24, 2014
Simultaneous analysis of hundreds of Y-chromosomal SNPs for high-resolution paternal lineage classification using targeted semiconductor sequencingArwin Ralf, Mannis van Oven, Kaiyin Zhong, et al.
Human Mutation|December 16, 2014
Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizerVijayashankaranarayanan Narasimhan, Rim Hjeij, Shubha Vij, et al.
Human Mutation|December 16, 2014
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practiceKim De Leeneer, Jan Hellemans, Wouter Steyaert, et al.
Human Mutation|July 30, 2015
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHEREleni A Chatzimichali, Simon Brent, Benjamin Hutton, et al.
Human Mutation|July 30, 2015
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesCatrina M Loucks, Jillian S Parboosingh, Ranad Shaheen, et al.
Human Mutation|December 3, 2014
Genome annotation by shotgun inactivation of a native gene in hemizygous cells: application to BRCA2 with implication of hypomorphic variantsSoma Ghosh, Anil K Bhunia, Bogdan C Paun, et al.
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