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3 Article(s) on File
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Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data
Glessner JT,
Bick AG,
Ito K,
Homsy JG,
Rodriguez-Murillo L,
Fromer M,
Mazaika E,
Vardarajan B,
Italia M,
Leipzig J,
DePalma SR,
Golhar R,
Sanders SJ,
Yamrom B,
Ronemus M,
Iossifov I,
Willsey AJ,
State MW,
Kaltman JR,
White PS,
Shen Y,
Warburton D,
Brueckner M,
Seidman C,
Goldmuntz E,
Gelb BD,
Lifton R,
Seidman J,
Hakonarson H,
Chung WK

Circulation Research
  115 (10): 884-96; Oct 24 2014   Nlm
[Abstract]
[DOI] [Full Text]

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
Wang K,
Kim C,
Bradfield J,
Guo YF,
Toskala E,
Otieno FG,
Hou CP,
Thomas K,
Cardinale C,
Lyon GJ,
Golhar R,
Hakonarson H

Genome Medicine
  5 (0): Jul 2013   NLM
[Abstract]
[Full Text]

Whole-genome sequencing in an autism multiplex family
Shi L,
Zhang X,
Golhar R,
Otieno FG,
He M,
Hou C,
Kim C,
Keating B,
Lyon GJ,
Wang K,
Hakonarson H

Mol Autism
  4 (1): 8; Apr 18 2013   Nlm
[Abstract]
[DOI] [Full Text]


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