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1
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O'Roak, Brian J. ; Vives, Laura ; Fu, Wenqing ; Egertson, Jarrett D. ; Stanaway, Ian B. ; Phelps, Ian G. ; Carvill, Gemma ; Kumar, Akash ; Lee, Choli ; Ankenman, Katy ; Munson, Jeff ; Hiatt, Joseph B. ; Turner, Emily H. ; Levy, Roie ; O'Day, Diana R. ; Krumm, Niklas ; Coe, Bradley P. ; Martin, Beth K. ; Borenstein, Elhanan ; Nickerson, Deborah A. ; Mefford, Heather C. ; Doherty, Dan ; Akey, Joshua M. ; Bernier, Raphael ; Eichler, Evan E. ; Shendure, Jay

Science (American Association for the Advancement of Science), 2012-12, Vol.338 (6114), p.1619-1622 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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2
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
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Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

Abdel-Rahman, Mohamed H ; Pilarski, Robert ; Cebulla, Colleen M ; Massengill, James B ; Christopher, Benjamin N ; Boru, Getachew ; Hovland, Peter ; Davidorf, Frederick H

Journal of medical genetics, 2011-12, Vol.48 (12), p.856-859 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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3
Large Variation in the Ratio of Mitochondrial to Nuclear Mutation Rate across Animals: Implications for Genetic Diversity and the Use of Mitochondrial DNA as a Molecular Marker
Large Variation in the Ratio of Mitochondrial to Nuclear Mutation Rate across Animals: Implications for Genetic Diversity and the Use of Mitochondrial DNA as a Molecular Marker
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Large Variation in the Ratio of Mitochondrial to Nuclear Mutation Rate across Animals: Implications for Genetic Diversity and the Use of Mitochondrial DNA as a Molecular Marker

Allio, Remi ; Donega, Stefano ; Galtier, Nicolas ; Nabholz, Benoit

Molecular biology and evolution, 2017-11, Vol.34 (11), p.2762-2772 [Periódico revisado por pares]

United States: Oxford University Press (OUP)

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4
Clinical application of exome sequencing in undiagnosed genetic conditions
Clinical application of exome sequencing in undiagnosed genetic conditions
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Clinical application of exome sequencing in undiagnosed genetic conditions

Need, Anna C ; Shashi, Vandana ; Hitomi, Yuki ; Schoch, Kelly ; Shianna, Kevin V ; McDonald, Marie T ; Meisler, Miriam H ; Goldstein, David B

Journal of medical genetics, 2012-06, Vol.49 (6), p.353-361 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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5
CO/FT Regulatory Module Controls Timing of Flowering and Seasonal Growth Cessation in Trees
CO/FT Regulatory Module Controls Timing of Flowering and Seasonal Growth Cessation in Trees
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CO/FT Regulatory Module Controls Timing of Flowering and Seasonal Growth Cessation in Trees

Böhlenius, Henrik ; Huang, Tao ; Charbonnel-Campaa, Laurence ; Brunner, Amy M ; Jansson, Stefan ; Strauss, Steven H ; Nilsson, Ove

Science (American Association for the Advancement of Science), 2006-05, Vol.312 (5776), p.1040-1043 [Periódico revisado por pares]

United States: American Association for the Advancement of Science

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6
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

González-Acosta, Maribel ; Marín, Fátima ; Puliafito, Benjamin ; Bonifaci, Nuria ; Fernández, Anna ; Navarro, Matilde ; Salvador, Hector ; Balaguer, Francesc ; Iglesias, Silvia ; Velasco, Angela ; Grau Garces, Elia ; Moreno, Victor ; Gonzalez-Granado, Luis Ignacio ; Guerra-García, Pilar ; Ayala, Rosa ; Florkin, Benoît ; Kratz, Christian ; Ripperger, Tim ; Rosenbaum, Thorsten ; Januszkiewicz-Lewandowska, Danuta ; Azizi, Amedeo A ; Ragab, Iman ; Nathrath, Michaela ; Pander, Hans-Jürgen ; Lobitz, Stephan ; Suerink, Manon ; Dahan, Karin ; Imschweiler, Thomas ; Demirsoy, Ugur ; Brunet, Joan ; Lázaro, Conxi ; Rueda, Daniel ; Wimmer, Katharina ; Capellá, Gabriel ; Pineda, Marta

Journal of medical genetics, 2020-04, Vol.57 (4), p.269-273 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
New IBD genetics: common pathways with other diseases
New IBD genetics: common pathways with other diseases
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New IBD genetics: common pathways with other diseases

Lees, C W ; Barrett, J C ; Parkes, M ; Satsangi, J

Gut, 2011-12, Vol.60 (12), p.1739-1753 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and British Society of Gastroenterology

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8
Genetic Diversity and the Efficacy of Purifying Selection across Plant and Animal Species
Genetic Diversity and the Efficacy of Purifying Selection across Plant and Animal Species
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Genetic Diversity and the Efficacy of Purifying Selection across Plant and Animal Species

Chen, Jun ; Glémin, Sylvain ; Lascoux, Martin

Molecular biology and evolution, 2017-06, Vol.34 (6), p.1417-1428 [Periódico revisado por pares]

United States: Oxford University Press (OUP)

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9
Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes
Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes
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Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes

Raj, Towfique ; Rothamel, Katie ; Mostafavi, Sara ; Ye, Chun ; Lee, Mark N. ; Replogle, Joseph M. ; Feng, Ting ; Lee, Michelle ; Asinovski, Natasha ; Frohlich, Irene ; Imboywa, Selina ; Von Korff, Alina ; Okada, Yukinori ; Patsopoulos, Nikolaos A. ; Davis, Scott ; McCabe, Cristin ; Paik, Hyun-il ; Srivastava, Gyan P. ; Raychaudhuri, Soumya ; Hafler, David A. ; Koller, Daphne ; Regev, Aviv ; Hacohen, Nir ; Mathis, Diane ; Benoist, Christophe ; Stranger, Barbara E. ; De Jager, Philip L.

Science (American Association for the Advancement of Science), 2014-05, Vol.344 (6183), p.519-523 [Periódico revisado por pares]

United States: American Association for the Advancement of Science

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10
IPMNs with co-occurring invasive cancers: neighbours but not always relatives
IPMNs with co-occurring invasive cancers: neighbours but not always relatives
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IPMNs with co-occurring invasive cancers: neighbours but not always relatives

Felsenstein, Matthäus ; Noë, Michaël ; Masica, David L ; Hosoda, Waki ; Chianchiano, Peter ; Fischer, Catherine G ; Lionheart, Gemma ; Brosens, Lodewijk A A ; Pea, Antonio ; Yu, Jun ; Gemenetzis, Georgios ; Groot, Vincent P ; Makary, Martin A ; He, Jin ; Weiss, Matthew J ; Cameron, John L ; Wolfgang, Christopher L ; Hruban, Ralph H ; Roberts, Nicholas J ; Karchin, Rachel ; Goggins, Michael G ; Wood, Laura D

Gut, 2018-09, Vol.67 (9), p.1652-1662 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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