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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2019
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United KingdomKatharina Schwarze, James Buchanan, Jilles M Fermont, et al.Journal of Medical Genetics|September 18, 2014
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorderChristian Babbs, Deborah Lloyd, Alistair T Pagnamenta, et al.Nucleic Acids Research|June 18, 2005
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization dataThomas S Price, Regina Regan, Richard Mott, et al.Blood|November 18, 2020
Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemiaJenny Klintman, Niamh Appleby, Basile Stamatopoulos, et al.European Journal of Human Genetics : EJHG|December 27, 2007
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approachesDavid A Koolen, Erik A Sistermans, Willy Nilessen, et al.American Journal of Human Genetics|October 16, 2012
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationStephen R F Twigg, Deborah Lloyd, Dagan Jenkins, et al.Leukemia|November 22, 2017
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroupsA Burns, R Alsolami, J Becq, et al.Circulation. Cardiovascular Genetics|September 15, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.Leukemia|June 7, 2017
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroupsA Burns, R Alsolami, J Becq, et al.Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.Pageof 10