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American Journal of Medical Genetics. Part A|April 15, 2016
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patientsHülya Kayserili, Umut Altunoglu, Gozde Yesil, et al.American Journal of Medical Genetics. Part A|March 13, 2016
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndromeColleen F Macmurdo, Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir, et al.American Journal of Medical Genetics. Part A|March 5, 2016
Further defining the phenotypic spectrum of B4GALT7 mutationsClaire G Salter, Justin H Davies, Rebecca J Moon, et al.American Journal of Medical Genetics. Part A|July 23, 2013
Novel no-stop FLNA mutation causes multi-organ involvement in malesRenske Oegema, Jessie M Hulst, Sabine D M Theuns-Valks, et al.American Journal of Medical Genetics. Part A|March 28, 2013
Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndromeDorothea Haas, Gisela Haege, Georg F Hoffmann, et al.American Journal of Medical Genetics. Part A|July 30, 2013
Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangementErin E Torti, Stephen R Braddock, Kristen Bernreuter, et al.American Journal of Medical Genetics. Part A|July 30, 2013
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation familyBitten Schönewolf-Greulich, Kirstine Ravn, Bente Hamborg-Petersen, et al.American Journal of Medical Genetics. Part A|July 30, 2013
Endocrine abnormalities in Townes-Brocks syndromeCara Lawrence, Irene Hong-McAtee, Bryan Hall, et al.American Journal of Medical Genetics. Part A|July 31, 2013
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndromeAlana Cecchi, Naomi Ogawa, Hugo R Martinez, et al.American Journal of Medical Genetics. Part A|July 31, 2013
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disordersEllen A Tsai, Micah A Berman, Laura K Conlin, et al.Pageof 928