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American Journal of Medical Genetics. Part A|November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networksMauro Longoni, Kasper Lage, Meaghan K Russell, et al.American Journal of Medical Genetics. Part A|September 4, 2015
6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalitiesLuisa Mackenroth, Karl Hackmann, Anke Beyer, et al.American Journal of Medical Genetics. Part A|September 5, 2015
Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalitiesRita Jorge, Carmen Silva, Sofia Águeda, et al.American Journal of Medical Genetics. Part A|September 9, 2015
Association between Kniest dysplasia and chondrosarcoma in a childAudrey Hochart, Anne Dieux, Paul Coucke, et al.American Journal of Medical Genetics. Part A|December 23, 2015
Distinctive findings in a boy with Simpson-Golabi-Behmel syndromeSoumeyya Halayem, Mariem Hamza, Faouzi Maazoul, et al.American Journal of Medical Genetics. Part A|December 23, 2015
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplicationsSarah E Grams, Bob Argiropoulos, Matthew Lines, et al.American Journal of Medical Genetics. Part A|December 25, 2015
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short statureDavid J Bunyan, Maria Baffico, Lucia Capone, et al.American Journal of Medical Genetics. Part A|December 29, 2015
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopeniaToshiki Takenouchi, Nobuhiko Okamoto, Shinobu Ida, et al.American Journal of Medical Genetics. Part A|January 30, 2016
Use of metaphors about exome and whole genome sequencingSarah C Nelson, Julia M Crouch, Michael J Bamshad, et al.American Journal of Medical Genetics. Part A|February 3, 2016
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speechCarole Samango-Sprouse, Patrick Lawson, Courtney Sprouse, et al.Pageof 928