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American Journal of Medical Genetics. Part A|June 3, 2017
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunctionWendy A Gold, Nara Sobreira, Elsa Wiame, et al.American Journal of Medical Genetics. Part A|June 3, 2017
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysemaMonica H Wojcik, Nikkola Carmichael, Frederick R Bieber, et al.American Journal of Medical Genetics. Part A|June 4, 2017
Associated anomalies in cases with esophageal atresiaClaude Stoll, Yves Alembik, Beatrice Dott, et al.American Journal of Medical Genetics. Part A|June 7, 2017
A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiencySamuel J H Parsons, Neville B Wright, Emma Burkitt-Wright, et al.American Journal of Medical Genetics. Part A|June 8, 2017
On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletionAlexandra Topa, Lena Samuelsson, Lovisa Lovmar, et al.American Journal of Medical Genetics. Part A|September 9, 2016
The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndromeKevin Yarbrough, Calida Danko, Alfons Krol, et al.American Journal of Medical Genetics. Part A|September 9, 2016
Clinicians' experiences with the fragile X clinical and research consortiumJessica A Liu, Randi J Hagerman, Robert M Miller, et al.American Journal of Medical Genetics. Part A|September 9, 2016
Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathyRobert Smigiel, Grazyna Kostrzewa, Joanna Kosinska, et al.American Journal of Medical Genetics. Part A|September 9, 2016
11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndromeŠtefan Blazina, Alojz Ihan, Luca Lovrečić, et al.American Journal of Medical Genetics. Part A|June 21, 2017
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder lociMadelyn A Gillentine, Christian P Schaaf, Ankita PatelPageof 928