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European Journal of Medical Genetics|July 17, 2013
A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocationScott E Hickey, Devon Lamb Thrush, Lauren Walters-Sen, et al.Cytogenetic and Genome Research|July 27, 2017
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental DisomyStephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, et al.Journal of Hematopathology|May 22, 2026
Myeloid/lymphoid neoplasm with FLT3 gene fusion: report of a case with a novel t(5;13)(q13;q12) SSBP2::FLT3 fusionJames R Cook, Caroline Astbury, David S Bosler, et al.Human Genetics|February 10, 2004
Delineation of complex chromosomal rearrangements: evidence for increased complexityCaroline Astbury, Laurie A Christ, David J Aughton, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2020
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Joshua L Deignan, Caroline Astbury, Garry R Cutting, et al.American Journal of Medical Genetics. Part A|March 23, 2017
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11Mariana Kekis, Carol Deeg, Sayaka Hashimoto, et al.European Journal of Medical Genetics|May 14, 2014
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasiaLauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, et al.Journal of Cutaneous Pathology|October 19, 2022
Combined utility of p16 and BRAF V600E in the evaluation of spitzoid tumors: Superiority to PRAME and correlation with FISHJohn L McAfee, Richard Scarborough, Xuefei Sophia Jia, et al.European Journal of Medical Genetics|October 2, 2013
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensationRuthann B Pfau, Devon Lamb Thrush, Elizabeth Hamelberg, et al.Muscle & Nerve|June 15, 2010
Novel diagnostic features of dysferlinopathiesXiomara Q Rosales, Julie M Gastier-Foster, Sarah Lewis, et al.Pageof 6