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Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Abul-Husn, Noura S ; Manickam, Kandamurugu ; Jones, Laney K ; Wright, Eric A ; Hartzel, Dustin N ; Gonzaga-Jauregui, Claudia ; O'Dushlaine, Colm ; Leader, Joseph B ; Lester Kirchner, H ; Lindbuchler, D'Andra M ; Barr, Marci L ; Giovanni, Monica A ; Ritchie, Marylyn D ; Overton, John D ; Reid, Jeffrey G ; Metpally, Raghu P R ; Wardeh, Amr H ; Borecki, Ingrid B ; Yancopoulos, George D ; Baras, Aris ; Shuldiner, Alan R ; Gottesman, Omri ; Ledbetter, David H ; Carey, David J ; Dewey, Frederick E ; Murray, Michael F

Science (New York, N.Y.), 23 December 2016, Vol.354(6319) [Periódico revisado por pares]

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Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, James R ; Reid, Jeffrey G ; Gonzaga - Jauregui, Claudia ; Rio Deiros, David ; Chen, David C. Y ; Nazareth, Lynne ; Bainbridge, Matthew ; Dinh, Huyen ; Jing, Chyn ; Wheeler, David A ; Mcguire, Amy L ; Zhang, Feng ; Stankiewicz, Pawel ; Halperin, John J ; Yang, Chengyong ; Gehman, Curtis ; Guo, Danwei ; Irikat, Rola K ; Tom, Warren ; Fantin, Nick J ; Muzny, Donna M ; Gibbs, Richard A

The New England Journal of Medicine, 2010, Vol.362(13), pp.1181-1191 [Periódico revisado por pares]

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Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Dewey, Frederick E ; Murray, Michael F ; Overton, John D ; Habegger, Lukas ; Leader, Joseph B ; Fetterolf, Samantha N ; O'Dushlaine, Colm ; Van Hout, Cristopher V ; Staples, Jeffrey ; Gonzaga-Jauregui, Claudia ; Metpally, Raghu ; Pendergrass, Sarah A ; Giovanni, Monica A ; Kirchner, H Lester ; Balasubramanian, Suganthi ; Abul-Husn, Noura S ; Hartzel, Dustin N ; Lavage, Daniel R ; Kost, Korey A ; Packer, Jonathan S ; Lopez, Alexander E ; Penn, John ; Mukherjee, Semanti ; Gosalia, Nehal ; Kanagaraj, Manoj ; Li, Alexander H ; Mitnaul, Lyndon J ; Adams, Lance J ; Person, Thomas N ; Praveen, Kavita ; Marcketta, Anthony ; Lebo, Matthew S ; Austin-Tse, Christina A ; Mason-Suares, Heather M ; Bruse, Shannon ; Mellis, Scott ; Phillips, Robert ; Stahl, Neil ; Murphy, Andrew ; Economides, Aris ; Skelding, Kimberly A ; Still, Christopher D ; Elmore, James R ; Borecki, Ingrid B ; Yancopoulos, George D ; Davis, F Daniel ; Faucett, William A ; Gottesman, Omri ; Ritchie, Marylyn D ; Shuldiner, Alan R ; Reid, Jeffrey G ; Ledbetter, David H ; Baras, Aris ; Carey, David J

Science (New York, N.Y.), 23 December 2016, Vol.354(6319) [Periódico revisado por pares]

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Human genome sequencing in health and disease

Gonzaga-Jauregui, Claudia ; Lupski, James R ; Gibbs, Richard A

Annual review of medicine, 2012, Vol.63, pp.35-61 [Periódico revisado por pares]

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GJB1 /Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

Gonzaga-Jauregui, Claudia ; Zhang, Feng ; Towne, Charles ; Batish, Sat ; Lupski, James

neurogenetics, 2010, Vol.11(4), pp.465-470 [Periódico revisado por pares]

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Claudia M B Carvalho ; Melissa B Ramocki ; Davut Pehlivan ; Luis M Franco ; Claudia Gonzaga-Jauregui ; Ping Fang ; Alanna Mccall ; Eniko Karman Pivnick ; Stacy Hines-Dowell ; Laurie H Seaver ; Linda Friehling ; Sansan Lee ; Rosemarie Smith ; Daniela Del Gaudio ; Marjorie Withers ; Pengfei Liu ; Sau Wai Cheung ; John W Belmont ; Huda Y Zoghbi ; P J Hastings ; James R Lupski

Nature Genetics, 2011, Vol.43(11), p.1074 [Periódico revisado por pares]

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NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Bosch, Daniëlle g.M ; Boonstra, F. nienke ; Gonzaga-Jauregui, Claudia ; Xu, Mafei ; De ligt, Joep ; Jhangiani, Shalini ; Wiszniewski, Wojciech ; Muzny, Donna m ; Yntema, Helger g ; Pfundt, Rolph ; Vissers, Lisenka e.L.M ; Spruijt, Liesbeth ; Blokland, Ellen a.W ; Chen, Chun-An ; Lewis, Richard a ; Tsai, Sophia y ; Gibbs, Richard a ; Tsai, Ming-Jer ; Lupski, James r ; Zoghbi, Huda y ; Cremers, Frans p.M ; De vries, Bert b.A ; Schaaf, Christian p

The American Journal of Human Genetics, 06 February 2014, Vol.94(2), pp.303-309 [Periódico revisado por pares]

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American Journal of Human Genetics ; Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang , Feng ; Seeman , Pavel ; Liu , Pengfei ; Weterman , Marian A J ; Gonzaga-Jauregui , Claudia ; Towne , Charles F ; Batish , Sat Dev ; De Vriendt , Els ; De Jonghe , Peter ; Rautenstrauss , Bernd ; Krause , Klaus*-Henning ; Khajavi , Mehrdad ; Posadka , Jan ; Vandenberghe , Antoon ; Palau , Francesc ; Van Maldergem , Lionel ; Baas , Frank ; Timmerman , Vincent ; Lupski , James R

2010, pp.892-903 [Periódico revisado por pares]

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Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Zhang, Feng ; Seeman, Pavel ; Liu, Pengfei ; Weterman, Marian A.J ; Gonzaga-Jauregui, Claudia ; Towne, Charles F ; Batish, Sat Dev ; De Vriendt, Els ; De Jonghe, Peter ; Rautenstrauss, Bernd ; Krause, Klaus-Henning ; Khajavi, Mehrdad ; Posadka, Jan ; Vandenberghe, Antoon ; Palau, Francesc ; Van Maldergem, Lionel ; Baas, Frank ; Timmerman, Vincent ; Lupski, James R

The American Journal of Human Genetics, 2010, Vol.86(6), pp.892-903 [Periódico revisado por pares]

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An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Liu, Pengfei ; Yuan, Bo ; Carvalho, Claudia M.B ; Wuster, Arthur ; Walter, Klaudia ; Zhang, Ling ; Gambin, Tomasz ; Chong, Zechen ; Campbell, Ian M ; Coban Akdemir, Zeynep ; Gelowani, Violet ; Writzl, Karin ; Bacino, Carlos A ; Lindsay, Sarah J ; Withers, Marjorie ; Gonzaga-Jauregui, Claudia ; Wiszniewska, Joanna ; Scull, Jennifer ; Stankiewicz, Paweł ; Jhangiani, Shalini N ; Muzny, Donna M ; Zhang, Feng ; Chen, Ken ; Gibbs, Richard A ; Rautenstrauss, Bernd ; Cheung, Sau Wai ; Smith, Janice ; Breman, Amy ; Shaw, Chad A ; Patel, Ankita ; Hurles, Matthew E ; Lupski, James R

Cell, 23 February 2017, Vol.168(5), pp.830-842.e7 [Periódico revisado por pares]

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Deste Autor:

  1. Gonzaga-Jauregui, Claudia
  2. Gonzaga-Jauregui, C
  3. Lupski, James R.
  4. Gibbs, Richard A
  5. Muzny, Donna M

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