Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15 by Lisbeth Birk Møller, Mie Mogensen, David D. Weaver, Per Amstrup Pedersen

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An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination by Leia A. Peterman, Gail H. Vance, Erin E. Conboy, Katelynn Anderson, David D. Weaver

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Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling by Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware, Benjamin M. Helm

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A post mortem assessment of a 25-year-old man with ascending aortic dissection and a novel MYLK variant by Katelyn Hodge, Katherine G. Spoonamore, Christopher B. Griffith, David D. Weaver, Patricia B.S. Celestino-Soper, Ty C. Lynnes, Hongyu Gao, Yunlong Liu, Matteo Vatta

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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. by Carolina J Jorgez, Jill A Rosenfeld, Nathan R Wilken, Hima V Vangapandu, Aysegul Sahin, Dung Pham, Claudia M B Carvalho, Anne Bandholz, Amanda Miller, David D Weaver, Barbara Burton, Deepti Babu, John S Bamforth, Timothy Wilks, Daniel P Flynn, Elizabeth Roeder, Ankita Patel, Sau W Cheung, James R Lupski, Dolores J Lamb

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