Pesquisa | Biblioteca Virtual em Saúde

1.

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, Pawel; 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; 168(5): 830-842.e7, 2017 02 23.

Artigo em Inglês | MEDLINE | ID: mdl-28235197

2.

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

Karaca, Ender; Weitzer, Stefan; Pehlivan, Davut; Shiraishi, Hiroshi; Gogakos, Tasos; Hanada, Toshikatsu; Jhangiani, Shalini N; Wiszniewski, Wojciech; Withers, Marjorie; Campbell, Ian M; Erdin, Serkan; Isikay, Sedat; Franco, Luis M; Gonzaga-Jauregui, Claudia; Gambin, Tomasz; Gelowani, Violet; Hunter, Jill V; Yesil, Gozde; Koparir, Erkan; Yilmaz, Sarenur; Brown, Miguel; Briskin, Daniel; Hafner, Markus; Morozov, Pavel; Farazi, Thalia A; Bernreuther, Christian; Glatzel, Markus; Trattnig, Siegfried; Friske, Joachim; Kronnerwetter, Claudia; Bainbridge, Matthew N; Gezdirici, Alper; Seven, Mehmet; Muzny, Donna M; Boerwinkle, Eric; Ozen, Mustafa; Clausen, Tim; Tuschl, Thomas; Yuksel, Adnan; Hess, Andreas; Gibbs, Richard A; Martinez, Javier; Penninger, Josef M; Lupski, James R.

Cell; 157(3): 636-50, 2014 Apr 24.

Artigo em Inglês | MEDLINE | ID: mdl-24766809

3.

Integrating common and rare genetic variation in diverse human populations.

Altshuler, David M; Gibbs, Richard A; Peltonen, Leena; Altshuler, David M; Gibbs, Richard A; Peltonen, Leena; Dermitzakis, Emmanouil; Schaffner, Stephen F; Yu, Fuli; Peltonen, Leena; Dermitzakis, Emmanouil; Bonnen, Penelope E; Altshuler, David M; Gibbs, Richard A; de Bakker, Paul I W; Deloukas, Panos; Gabriel, Stacey B; Gwilliam, Rhian; Hunt, Sarah; Inouye, Michael; Jia, Xiaoming; Palotie, Aarno; Parkin, Melissa; Whittaker, Pamela; Yu, Fuli; Chang, Kyle; Hawes, Alicia; Lewis, Lora R; Ren, Yanru; Wheeler, David; Gibbs, Richard A; Muzny, Donna Marie; Barnes, Chris; Darvishi, Katayoon; Hurles, Matthew; Korn, Joshua M; Kristiansson, Kati; Lee, Charles; McCarrol, Steven A; Nemesh, James; Dermitzakis, Emmanouil; Keinan, Alon; Montgomery, Stephen B; Pollack, Samuela; Price, Alkes L; Soranzo, Nicole; Bonnen, Penelope E; Gibbs, Richard A; Gonzaga-Jauregui, Claudia; Keinan, Alon.

Nature; 467(7311): 52-8, 2010 Sep 02.

Artigo em Inglês | MEDLINE | ID: mdl-20811451

4.

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.

Staples, Jeffrey; Maxwell, Evan K; Gosalia, Nehal; Gonzaga-Jauregui, Claudia; Snyder, Christopher; Hawes, Alicia; Penn, John; Ulloa, Ricardo; Bai, Xiaodong; Lopez, Alexander E; Van Hout, Cristopher V; O'Dushlaine, Colm; Teslovich, Tanya M; McCarthy, Shane E; Balasubramanian, Suganthi; Kirchner, H Lester; Leader, Joseph B; Murray, Michael F; Ledbetter, David H; Shuldiner, Alan R; Yancoupolos, George D; Dewey, Frederick E; Carey, David J; Overton, John D; Baras, Aris; Habegger, Lukas; Reid, Jeffrey G.

Am J Hum Genet; 102(5): 874-889, 2018 05 03.

Artigo em Inglês | MEDLINE | ID: mdl-29727688

5.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Morimoto, Marie; Waller-Evans, Helen; Ammous, Zineb; Song, Xiaofei; Strauss, Kevin A; Pehlivan, Davut; Gonzaga-Jauregui, Claudia; Puffenberger, Erik G; Holst, Charles R; Karaca, Ender; Brigatti, Karlla W; Maguire, Emily; Coban-Akdemir, Zeynep H; Amagata, Akiko; Lau, C Christopher; Chepa-Lotrea, Xenia; Macnamara, Ellen; Tos, Tulay; Isikay, Sedat; Nehrebecky, Michele; Overton, John D; Klein, Matthew; Markello, Thomas C; Posey, Jennifer E; Adams, David R; Lloyd-Evans, Emyr; Lupski, James R; Gahl, William A; Malicdan, May Christine V.

Am J Hum Genet; 103(5): 794-807, 2018 Nov 01.

Artigo em Inglês | MEDLINE | ID: mdl-30401460

6.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Williams, Katie B; Brigatti, Karlla W; Puffenberger, Erik G; Gonzaga-Jauregui, Claudia; Griffin, Laurie B; Martinez, Erick D; Wenger, Olivia K; Yoder, Mark; Kandula, Vinay V R; Fox, Michael D; Demczko, Matthew M; Poskitt, Laura; Furuya, Katryn N; Reid, Jeffrey G; Overton, John D; Baras, Aris; Miles, Lili; Radhakrishnan, Kadakkal; Carson, Vincent J; Antonellis, Anthony; Jinks, Robert N; Strauss, Kevin A.

Hum Mol Genet; 2018 Oct 09.

Artigo em Inglês | MEDLINE | ID: mdl-30304524

7.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Tan, Tiong Yang; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J; Strauss, Kevin A; Brigatti, Karlla; Puffenberger, Erik; Li, Dong; Xie, LiQin; Das, Nanditha; Skubas, Ioanna; Deckelbaum, Ron A; Hughes, Virginia; Brydges, Susannah; Hatsell, Sarah; Siao, Chia-Jen; Dominguez, Melissa G; Economides, Aris; Overton, John D; Mayne, Valerie; Simm, Peter J; Jones, Bryn O; Eggers, Stefanie; Le Guyader, Gwenaël; Pelluard, Fanny; Haack, Tobias B; Sturm, Marc; Riess, Angelika; Waldmueller, Stephan; Hofbeck, Michael; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Hakonarson, Hakon; Baker, Naomi L; Farlie, Peter G.

Am J Hum Genet; 101(6): 985-994, 2017 Dec 07.

Artigo em Inglês | MEDLINE | ID: mdl-29198724

8.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Horn, Susanne; Au, Margaret; Basel-Salmon, Lina; Bayrak-Toydemir, Pinar; Chapin, Alexander; Cohen, Lior; Elting, Mariet W; Graham, John M; Gonzaga-Jauregui, Claudia; Konen, Osnat; Holzer, Max; Lemke, Johannes; Miller, Christine E; Rey, Linda K; Wolf, Nicole I; Weiss, Marjan M; Waisfisz, Quinten; Mirzaa, Ghayda M; Wieczorek, Dagmar; Sticht, Heinrich; Abou Jamra, Rami.

Brain; 142(11): 3351-3359, 2019 Nov 01.

Artigo em Inglês | MEDLINE | ID: mdl-31504246

9.

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.

Paperna, Tamar; Sharon-Shwartzman, Nitzan; Kurolap, Alina; Goldberg, Yael; Moustafa, Nivin; Carasso, Yariv; Feinstien, Miora; Mory, Adi; Reznick-Levi, Gili; Gonzaga-Jauregui, Claudia; Shuldiner, Alan R; Basel-Salmon, Lina; Ofran, Yishai; Half, Elizabeth E; Baris Feldman, Hagit.

J Med Genet; 2019 Mar 11.

Artigo em Inglês | MEDLINE | ID: mdl-30858171

10.

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.

Toledano, Helen; Orenstein, Naama; Sofrin, Efrat; Ruhrman-Shahar, Noa; Amarilyo, Gil; Basel-Salmon, Lina; Shuldiner, Alan R; Smirin-Yosef, Pola; Aronson, Melyssa; Al-Tarrah, Hibs; Bazak, Lili; Gonzaga-Jauregui, Claudia; Tabori, Uri; Wimmer, Katharina; Goldberg, Yael.

J Med Genet; 2019 Sep 09.

Artigo em Inglês | MEDLINE | ID: mdl-31501241

11.

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.

Hijazi, Hadia; Coelho, Fernanda S; Gonzaga-Jauregui, Claudia; Bernardini, Laura; Mar, Soe S; Manning, Melanie A; Hanson-Kahn, Andrea; Naidu, SakkuBai; Srivastava, Siddharth; Lee, Jennifer A; Jones, Julie R; Friez, Michael J; Alberico, Thomas; Torres, Barbara; Fang, Ping; Cheung, Sau Wai; Song, Xiaofei; Davis-Williams, Angelique; Jornlin, Carly; Wight, Patricia A; Patyal, Pankaj; Taube, Jennifer; Poretti, Andrea; Inoue, Ken; Zhang, Feng; Pehlivan, Davut; Carvalho, Claudia M B; Hobson, Grace M; Lupski, James R.

Hum Mutat; 2019 Aug 26.

Artigo em Inglês | MEDLINE | ID: mdl-31448840

12.

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.

Kurolap, Alina; Eshach Adiv, Orly; Konnikova, Liza; Werner, Lael; Gonzaga-Jauregui, Claudia; Steinberg, Maya; Mitsialis, Vanessa; Mory, Adi; Nunberg, Moran Y; Wall, Sarah; Shaoul, Ron; Overton, John D; Shuldiner, Alan R; Zohar, Yaniv; Paperna, Tamar; Snapper, Scott B; Shouval, Dror S; Baris Feldman, Hagit.

J Clin Immunol; 39(4): 430-439, 2019 May.

Artigo em Inglês | MEDLINE | ID: mdl-31079270

13.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.

Hershkovitz, Tova; Kurolap, Alina; Gonzaga-Jauregui, Claudia; Paperna, Tamar; Mory, Adi; Wolf, Sarah E; Overton, John D; Shuldiner, Alan R; Saada, Ann; Mandel, Hanna; Baris Feldman, Hagit.

J Hum Genet; 64(6): 589-595, 2019 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-30903008

14.

A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.

Sagi-Dain, Lena; Kurolap, Alina; Ilivitzki, Anat; Mory, Adi; Paperna, Tamar; Kedar, Reuven; Gonzaga-Jauregui, Claudia; Peleg, Amir; Baris Feldman, Hagit.

Am J Med Genet A; 2019 Nov 07.

Artigo em Inglês | MEDLINE | ID: mdl-31697046

15.

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.

Kurolap, Alina; Eshach-Adiv, Orly; Gonzaga-Jauregui, Claudia; Dolnikov, Katya; Mory, Adi; Paperna, Tamar; Hershkovitz, Tova; Overton, John D; Kaplan, Marielle; Glaser, Fabian; Zohar, Yaniv; Shuldiner, Alan R; Berger, Gidon; Baris, Hagit N.

J Med Genet; 55(11): 779-784, 2018 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-29875123

16.

Genomic diagnostics within a medically underserved population: efficacy and implications.

Strauss, Kevin A; Gonzaga-Jauregui, Claudia; Brigatti, Karlla W; Williams, Katie B; King, Alejandra K; Van Hout, Cristopher; Robinson, Donna L; Young, Millie; Praveen, Kavita; Heaps, Adam D; Kuebler, Mindy; Baras, Aris; Reid, Jeffrey G; Overton, John D; Dewey, Frederick E; Jinks, Robert N; Finnegan, Ian; Mellis, Scott J; Shuldiner, Alan R; Puffenberger, Erik G.

Genet Med; 20(1): 31-41, 2018 01.

Artigo em Inglês | MEDLINE | ID: mdl-28726809

17.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A B; Prescott, Trine; Anderson, Carl A; Rainger, Jacqueline K; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M; Seawright, Anne; Soares, Dinesh C; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A; van Heyningen, Veronica; Taylor, Martin S; Yakut, Tahsin; Knappskog, Per M; Hurles, Matthew E; Ponting, Chris P; Lupski, James R; Houge, Gunnar; FitzPatrick, David R.

Am J Hum Genet; 94(6): 915-23, 2014 Jun 05.

Artigo em Inglês | MEDLINE | ID: mdl-24906020

18.

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.

Am J Hum Genet; 94(2): 303-9, 2014 Feb 06.

Artigo em Inglês | MEDLINE | ID: mdl-24462372

19.

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 Genet; 10(3): e1004258, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-24676022

20.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Pehlivan, Davut; Beck, Christine R; Okamoto, Yuji; Harel, Tamar; Akdemir, Zeynep H C; Jhangiani, Shalini N; Withers, Marjorie A; Goksungur, Meryem Tuba; Carvalho, Claudia M B; Czesnik, Dirk; Gonzaga-Jauregui, Claudia; Wiszniewski, Wojciech; Muzny, Donna M; Gibbs, Richard A; Rautenstrauss, Bernd; Sereda, Michael W; Lupski, James R.

Genet Med; 18(5): 443-51, 2016 05.

Artigo em Inglês | MEDLINE | ID: mdl-26378787

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