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Neurology|February 10, 2019
Clinical spectrum of STX1B-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.Journal of Medical Genetics|April 18, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeB W M van Bon, H C Mefford, B Menten, et al.The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.Genome Medicine|November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.Pageof 10