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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, Anath C ; Costain, Gregory ; Monfared, Nasim ; Walker, Susan ; Reuter, Miriam S ; Hosseini, S Mohsen ; Thiruvahindrapuram, Bhooma ; Merico, Daniele ; Jobling, Rebekah ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Sung, Wilson W L ; Wang, Zhuozhi ; Bikangaga, Peter ; Boelman, Cyrus ; Carter, Melissa T ; Cordeiro, Dawn ; Cytrynbaum, Cheryl ; Dell, Sharon D ; Dhir, Priya ; Dowling, James J ; Heon, Elise ; Hewson, Stacy ; Hiraki, Linda ; Inbar-Feigenberg, Michal ; Klatt, Regan ; Kronick, Jonathan ; Laxer, Ronald M ; Licht, Christoph ; MacDonald, Heather ; Mercimek-Andrews, Saadet ; Mendoza-Londono, Roberto ; Piscione, Tino ; Schneider, Rayfel ; Schulze, Andreas ; Silverman, Earl ; Siriwardena, Komudi ; Snead, O Carter ; Sondheimer, Neal ; Sutherland, Joanne ; Vincent, Ajoy ; Wasserman, Jonathan D ; Weksberg, Rosanna ; Shuman, Cheryl ; Carew, Chris ; Szego, Michael J ; Hayeems, Robin Z ; Basran, Raveen ; Stavropoulos, Dimitri J ; Ray, Peter N ; Bowdin, Sarah ; Meyn, M Stephen ; Cohn, Ronald D ; Scherer, Stephen W ; Marshall, Christian R

Genetics in medicine, 2018-04, Vol.20 (4), p.435-443 [Periódico revisado por pares]

United States: Elsevier Limited

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2
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Lindstrand, Anna ; Eisfeldt, Jesper ; Pettersson, Maria ; Carvalho, Claudia M B ; Kvarnung, Malin ; Grigelioniene, Giedre ; Anderlid, Britt-Marie ; Bjerin, Olof ; Gustavsson, Peter ; Hammarsjö, Anna ; Georgii-Hemming, Patrik ; Iwarsson, Erik ; Johansson-Soller, Maria ; Lagerstedt-Robinson, Kristina ; Lieden, Agne ; Magnusson, Måns ; Martin, Marcel ; Malmgren, Helena ; Nordenskjöld, Magnus ; Norling, Ameli ; Sahlin, Ellika ; Stranneheim, Henrik ; Tham, Emma ; Wincent, Josephine ; Ygberg, Sofia ; Wedell, Anna ; Wirta, Valtteri ; Nordgren, Ann ; Lundin, Johanna ; Nilsson, Daniel

Genome medicine, 2019-11, Vol.11 (1), p.68-68, Article 68 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Epigenetic variation between urban and rural populations of Darwin's finches
Epigenetic variation between urban and rural populations of Darwin's finches
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Epigenetic variation between urban and rural populations of Darwin's finches

McNew, Sabrina M ; Beck, Daniel ; Sadler-Riggleman, Ingrid ; Knutie, Sarah A ; Koop, Jennifer A H ; Clayton, Dale H ; Skinner, Michael K

BMC evolutionary biology, 2017-08, Vol.17 (1), p.183-183, Article 183 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domestication
Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domestication
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Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domestication

Paudel, Yogesh ; Madsen, Ole ; Megens, Hendrik-Jan ; Frantz, Laurent A F ; Bosse, Mirte ; Bastiaansen, John W M ; Crooijmans, Richard P M A ; Groenen, Martien A M

BMC genomics, 2013-07, Vol.14 (1), p.449-449 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
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Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Gross, Andrew M ; Ajay, Subramanian S ; Rajan, Vani ; Brown, Carolyn ; Bluske, Krista ; Burns, Nicole J ; Chawla, Aditi ; Coffey, Alison J ; Malhotra, Alka ; Scocchia, Alicia ; Thorpe, Erin ; Dzidic, Natasa ; Hovanes, Karine ; Sahoo, Trilochan ; Dolzhenko, Egor ; Lajoie, Bryan ; Khouzam, Amirah ; Chowdhury, Shimul ; Belmont, John ; Roller, Eric ; Ivakhno, Sergii ; Tanner, Stephen ; McEachern, Julia ; Hambuch, Tina ; Eberle, Michael ; Hagelstrom, R Tanner ; Bentley, David R ; Perry, Denise L ; Taft, Ryan J

Genetics in medicine, 2019-05, Vol.21 (5), p.1121-1130 [Periódico revisado por pares]

United States: Elsevier Limited

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6
Contribution of elevation and residential proximity to the coast in explaining geographic variations in hip fracture incidence. A Norwegian Epidemiologic Osteoporosis Studies (NOREPOS) study
Contribution of elevation and residential proximity to the coast in explaining geographic variations in hip fracture incidence. A Norwegian Epidemiologic Osteoporosis Studies (NOREPOS) study
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Contribution of elevation and residential proximity to the coast in explaining geographic variations in hip fracture incidence. A Norwegian Epidemiologic Osteoporosis Studies (NOREPOS) study

Dahl, C. ; Madsen, C. ; Omsland, T.K. ; Søgaard, A.-J. ; Tell, G.S. ; Holvik, K. ; Meyer, H.E.

Osteoporosis international, 2021-05, Vol.32 (5), p.1001-1006 [Periódico revisado por pares]

London: Springer London

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7
The genomic and clinical landscape of fetal akinesia
The genomic and clinical landscape of fetal akinesia
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The genomic and clinical landscape of fetal akinesia

Pergande, Matthias ; Motameny, Susanne ; Özdemir, Özkan ; Kreutzer, Mona ; Wang, Haicui ; Daimagüler, Hülya-Sevcan ; Becker, Kerstin ; Karakaya, Mert ; Ehrhardt, Harald ; Elcioglu, Nursel ; Ostojic, Slavica ; Chao, Cho-Ming ; Kawalia, Amit ; Duman, Özgür ; Koy, Anne ; Hahn, Andreas ; Reimann, Jens ; Schoner, Katharina ; Schänzer, Anne ; Westhoff, Jens H. ; Schwaibold, Eva Maria Christina ; Cossee, Mireille ; Imbert-Bouteille, Marion ; von Pein, Harald ; Haliloglu, Göknur ; Topaloglu, Haluk ; Altmüller, Janine ; Nürnberg, Peter ; Thiele, Holger ; Heller, Raoul ; Cirak, Sebahattin

Genetics in medicine, 2020-03, Vol.22 (3), p.511-523 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Inter- and intra-individual variations in seasonal and daily stabilities of the human gut microbiota in Japanese
Inter- and intra-individual variations in seasonal and daily stabilities of the human gut microbiota in Japanese
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Inter- and intra-individual variations in seasonal and daily stabilities of the human gut microbiota in Japanese

Hisada, Takayoshi ; Endoh, Kaori ; Kuriki, Kiyonori

Archives of microbiology, 2015-09, Vol.197 (7), p.919-934 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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9
Genome-wide detection of copy number variations using high-density SNP genotyping platforms in Holsteins
Genome-wide detection of copy number variations using high-density SNP genotyping platforms in Holsteins
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Genome-wide detection of copy number variations using high-density SNP genotyping platforms in Holsteins

Jiang, Li ; Jiang, Jicai ; Yang, Jie ; Liu, Xuan ; Wang, Jiying ; Wang, Haifei ; Ding, Xiangdong ; Liu, Jianfeng ; Zhang, Qin

BMC genomics, 2013-02, Vol.14 (1), p.131-131, Article 131 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Towards the detection of copy number variation from single sperm sequencing in cattle
Towards the detection of copy number variation from single sperm sequencing in cattle
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Towards the detection of copy number variation from single sperm sequencing in cattle

Yang, Liu ; Gao, Yahui ; Oswalt, Adam ; Fang, Lingzhao ; Boschiero, Clarissa ; Neupane, Mahesh ; Sattler, Charles G ; Li, Cong-Jun ; Seroussi, Eyal ; Xu, Lingyang ; Yang, Lv ; Li, Li ; Zhang, Hongping ; Rosen, Benjamin D ; Van Tassell, Curtis P ; Zhou, Yang ; Ma, Li ; Liu, George E

BMC genomics, 2022-03, Vol.23 (1), p.215-215, Article 215 [Periódico revisado por pares]

England: BioMed Central Ltd

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