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1
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Ragge, Nicola ; Isidor, Bertrand ; Bitoun, Pierre ; Odent, Sylvie ; Giurgea, Irina ; Cogné, Benjamin ; Deb, Wallid ; Vincent, Marie ; Le Gall, Jessica ; Morton, Jenny ; Lim, Derek ; Le Meur, Guylène ; Zazo Seco, Celia ; Zafeiropoulou, Dimitra ; Bax, Dorine ; Zwijnenburg, Petra ; Arteche, Anara ; Swafiri, Saoud Tahsin ; Cleaver, Ruth ; McEntagart, Meriel ; Kini, Usha ; Newman, William ; Ayuso, Carmen ; Corton, Marta ; Herenger, Yvan ; Jeanne, Médéric ; Calvas, Patrick ; Chassaing, Nicolas

Human genetics, 2019-09, Vol.138 (8-9), p.1051-1069 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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2
The landscape of viral associations in human cancers
The landscape of viral associations in human cancers
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The landscape of viral associations in human cancers

Zapatka, Marc ; Borozan, Ivan ; Brewer, Daniel S ; Iskar, Murat ; Grundhoff, Adam ; Alawi, Malik ; Desai, Nikita ; Sültmann, Holger ; Moch, Holger ; Cooper, Colin S ; Eils, Roland ; Ferretti, Vincent ; Lichter, Peter

Nature genetics, 2020-03, Vol.52 (3), p.320-330 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
GADD45A binds R-loops and recruits TET1 to CpG island promoters
GADD45A binds R-loops and recruits TET1 to CpG island promoters
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GADD45A binds R-loops and recruits TET1 to CpG island promoters

Arab, Khelifa ; Karaulanov, Emil ; Musheev, Michael ; Trnka, Philipp ; Schäfer, Andrea ; Grummt, Ingrid ; Niehrs, Christof

Nature genetics, 2019-02, Vol.51 (2), p.217-223 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes
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Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

LE GALLO, Matthieu ; O'HARA, Andrea J ; SGROI, Dennis C ; HIETER, Philip ; MULLIKIN, James C ; MERINO, Maria J ; BELL, Daphne W ; RUDD, Meghan L ; URICK, Mary Ellen ; HANSEN, Nancy F ; O'NEIL, Nigel J ; PRICE, Jessica C ; SUIYUAN ZHANG ; ENGLAND, Bryant M ; GODWIN, Andrew K

Nature genetics, 2012-12, Vol.44 (12), p.1310-1315 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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5
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Surendran, Praveen ; Feofanova, Elena V ; Lahrouchi, Najim ; Mifsud, Borbala ; Kraja, Aldi T ; Hellwege, Jacklyn N ; Thorleifsson, Gudmar ; Liu, Dajiang J ; Cabrera, Claudia P ; Bielak, Lawrence F ; Bis, Joshua C ; Nielsen, Sune Fallgaard ; Fauman, Eric B ; Fava, Cristiano ; Ferreira, Teresa ; Foley, Christopher N ; Franceschini, Nora ; Giannakopoulou, Olga ; Gudbjartsson, Daniel F ; Guo, Xiuqing ; Harris, Sarah E ; Kontto, Jukka ; Larson, Martin G ; Li-Gao, Ruifang ; Malerba, Giovanni ; Mei, Hao ; Mook-Kanamori, Dennis O ; Müller-Nurasyid, Martina ; Rauramaa, Rainer ; Smith, Albert V ; Thériault, Sébastien ; Trompet, Stella ; Veronesi, Giovanni ; Weiss, Stefan ; Willems, Sara M ; Zhang, Weihua ; Zhao, Wei ; Zhao, Wei ; Evangelou, Evangelos ; Bonnycastle, Lori L ; Burgess, Stephen ; Connell, John ; Farmaki, Aliki-Eleni ; Grarup, Niels ; Hallmans, Göran ; Have, Christian T ; Karpe, Fredrik ; Koistinen, Heikki A ; Lee, I-Te ; Lee, Wen-Jane ; Linneberg, Allan ; Rasheed, Asif ; Rasmussen, Katrine L ; Renström, Frida ; Rettig, Rainer ; Rossouw, Jacques ; Schreiner, Pamela J ; Sever, Peter S ; Sun, Yan V ; Esko, Tõnu ; Vergnaud, Anne-Claire ; Wilson, Peter W F ; Witte, Daniel R ; Almgren, Peter ; Barnes, Michael R ; Bottinger, Erwin P ; Chowdhury, Rajiv ; Correa, Adolfo ; Dedoussis, George ; Di Angelantonio, Emanuele ; Ferrières, Jean ; Fornage, Myriam ; Franks, Stephen ; Frossard, Philippe ; Gaunt, Tom R ; Ingelsson, Erik ; Lind, Lars ; Loos, Ruth J F ; Majumder, Abdulla Al Shafi ; Packard, Chris J ; Palmas, Walter ; Prentice, Andrew M ; Relton, Caroline L ; Rolandsson, Olov ; Smith, Blair H ; Soranzo, Nicole ; Spector, Timothy D ; Taylor, Kent D ; Timpson, Nicholas J ; Völker, Uwe ; Wareham, Nicholas J ; Langenberg, Claudia ; Tomaszewski, Maciej ; Caulfield, Mark J ; Hung, Adriana M ; Morris, Andrew P ; Morrison, Alanna C ; Psaty, Bruce M ; Levy, Daniel ; Munroe, Patricia B

Nature genetics, 2020-12, Vol.52 (12), p.1314-1332 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia
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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Chassaing, N. ; Causse, A. ; Vigouroux, A. ; Delahaye, A. ; Alessandri, J.-L. ; Boespflug-Tanguy, O. ; Boute-Benejean, O. ; Dollfus, H. ; Duban-Bedu, B. ; Gilbert-Dussardier, B. ; Giuliano, F. ; Gonzales, M. ; Holder-Espinasse, M. ; Isidor, B. ; Jacquemont, M.-L. ; Lacombe, D. ; Martin-Coignard, D. ; Mathieu-Dramard, M. ; Odent, S. ; Picone, O. ; Pinson, L. ; Quelin, C. ; Sigaudy, S. ; Toutain, A. ; Thauvin-Robinet, C. ; Kaplan, Josseline ; Calvas, Patrick

Clinical genetics, 2014-10, Vol.86 (4), p.326-334 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Runx1 is a central regulator of osteogenesis for bone homeostasis by orchestrating BMP and WNT signaling pathways
Runx1 is a central regulator of osteogenesis for bone homeostasis by orchestrating BMP and WNT signaling pathways
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Runx1 is a central regulator of osteogenesis for bone homeostasis by orchestrating BMP and WNT signaling pathways

Tang, Chen-Yi ; Wu, Mengrui ; Zhao, Dongfeng ; Edwards, Diep ; McVicar, Abigail ; Luo, Yuan ; Zhu, Guochun ; Wang, Yongjun ; Zhou, Hou-De ; Chen, Wei ; Li, Yi-Ping LONG, FANXIN

PLoS genetics, 2021-01, Vol.17 (1), p.e1009233-e1009233 [Periódico revisado por pares]

United States: Public Library of Science

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8
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
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Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

Yost, Shawn ; de Wolf, Bas ; Hanks, Sandra ; Zachariou, Anna ; Marcozzi, Chiara ; Clarke, Matthew ; de Voer, Richarda ; Etemad, Banafsheh ; Uijttewaal, Esther ; Ramsay, Emma ; Wylie, Harriet ; Elliott, Anna ; Picton, Susan ; Smith, Audrey ; Smithson, Sarah ; Seal, Sheila ; Ruark, Elise ; Houge, Gunnar ; Pines, Jonathan ; Kops, Geert J P L ; Rahman, Nazneen

Nature genetics, 2017-07, Vol.49 (7), p.1148-1151 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
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Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma

Zhang, Ling ; Zhou, Yong ; Cheng, Caixia ; Cui, Heyang ; Cheng, Le ; Kong, Pengzhou ; Wang, Jiaqian ; Li, Yin ; Chen, Wenliang ; Song, Bin ; Wang, Fang ; Jia, Zhiwu ; Li, Lin ; Li, Yaoping ; Yang, Bin ; Liu, Jing ; Shi, Ruyi ; Bi, Yanghui ; Zhang, Yanyan ; Wang, Juan ; Zhao, Zhenxiang ; Hu, Xiaoling ; Yang, Jie ; Li, Hongyi ; Gao, Zhibo ; Chen, Gang ; Huang, Xuanlin ; Yang, Xukui ; Wan, Shengqing ; Chen, Chao ; Li, Bin ; Tan, Yongkai ; Chen, Longyun ; He, Minghui ; Xie, Sha ; Li, Xiangchun ; Zhuang, Xuehan ; Wang, Mengyao ; Xia, Zhi ; Luo, Longhai ; Ma, Jie ; Dong, Bing ; Zhao, Jiuzhou ; Song, Yongmei ; Ou, Yunwei ; Li, Enming ; Xu, Liyan ; Wang, Jinfen ; Xi, Yanfeng ; Li, Guodong ; Xu, Enwei ; Liang, Jianfang ; Yang, Xiaofeng ; Guo, Jiansheng ; Chen, Xing ; Zhang, Yanbo ; Li, Qingshan ; Liu, Lixin ; Li, Yingrui ; Zhang, Xiuqing ; Yang, Huanming ; Lin, Dongxin ; Cheng, Xiaolong ; Guo, Yongjun ; Wang, Jun ; Zhan, Qimin ; Cui, Yongping

American journal of human genetics, 2015-04, Vol.96 (4), p.597-611 [Periódico revisado por pares]

United States: Elsevier Inc

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10
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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