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Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
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Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Prada, Carlos E ; Gonzaga-Jauregui, Claudia ; Tannenbaum, Rebecca ; Penney, Samantha ; Lupski, James R ; Hopkin, Robert J ; Sutton, V. Reid

European Journal of Medical Genetics, July 2014, Vol.57(7), pp.339-344 [Periódico revisado por pares]

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2
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.(Report)
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.(Report)
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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.(Report)

Wangler, Michael F. ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J. ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A. ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M. ; Jhangiani, Shalini ; Gibbs, Richard A. ; Lupski, James R. ; Beaudet, Arthur

PLoS Genetics, 2014, Vol.10(3) [Periódico revisado por pares]

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Wangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani, Shalini ; Gibbs, Richard A ; Lupski, James R ; Beaudet, Arthur

PLoS genetics, March 2014, Vol.10(3), pp.e1004258 [Periódico revisado por pares]

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4
Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia
Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia
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Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia

Gonzaga-Jauregui, Claudia ; Mir, Sabina ; Penney, Samantha ; Jhangiani, Shalini ; Midgen, Craig ; Finegold, Milton ; Muzny, Donna M. ; Wang, Min ; Bacino, Carlos A. ; Gibbs, Richard A. ; Lupski, James R. ; Kellermayer, Richard ; Hanchard, Neil A.

Journal of Pediatric Gastroenterology and Nutrition, 2014, Vol.59(1), pp.17-21 [Periódico revisado por pares]

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Deste Autor:

  1. Lupski, James R
  2. Gonzaga-Jauregui, Claudia
  3. Penney, Samantha
  4. Bacino, Carlos A
  5. Jhangiani, Shalini

Neste Assunto:

  1. Female
  2. Exome
  3. Humans
  4. Biology
  5. Genetic Research

  • Realização: USP

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