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Journal of Medical Genetics|June 14, 2008
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variantF D Hannes, A J Sharp, H C Mefford, et al.Leukemia|July 19, 2019
Correction: 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.American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.Nature Genetics|August 15, 2006
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, et al.Human Mutation|May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related CraniosynostosisJacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.Cold Spring Harbor Molecular Case Studies|April 4, 2018
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencingAnna Schuh, Helene Dreau, Samantha J L Knight, et al.HGG Advances|September 11, 2024
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locusReza Maroofian, Alistair T Pagnamenta, Alireza Navabazam, et al.Blood|August 29, 2015
Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLLRomain Guièze, Pauline Robbe, Ruth Clifford, et al.Pageof 10