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Journal of Genetic Counseling|April 7, 2020
Enhancing inclusion of diverse populations in genomics: A competence frameworkSaghira M Sharif, Moira Blyth, Mushtaq Ahmed, et al.
The Journal of Experimental Medicine|October 1, 2008
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombinationSophie Péron, Ayse Metin, Pauline Gardès, et al.
BMJ Paediatrics Open|April 12, 2018
Improving case ascertainment of congenital anomalies: findings from a prospective birth cohort with detailed primary care record linkageChrissy Bishop, Neil Small, Dan Mason, et al.
Journal of Medical Genetics|March 16, 2016
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to painStella Zhang, Saghira Malik Sharif, Ya-Chun Chen, et al.
Retina (Philadelphia, Pa.)|March 6, 2009
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlationSeema Anand, Eamonn Sheridan, Frances Cassidy, et al.
Plos One|June 9, 2016
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital SyndromeChristopher M Watson, Laura A Crinnion, Sally M Harrison, et al.
Human Mutation|January 27, 2007
Extensive gene conversion at the PMS2 DNA mismatch repair locusBruce E Hayward, Michel De Vos, Elizabeth M A Valleley, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|July 6, 2019
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplicationsChristopher M Watson, Laura A Crinnion, Sarah Hewitt, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 25, 2019
Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzymeGonzalo S Tejeda, Ellanor L Whiteley, Tarek Z Deeb, et al.
International Journal of Cancer|April 9, 2005
Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs)Xiaohong ' Rose ' Yang, Michael Beerman, Andrew W Bergen, et al.
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