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Refinado por: Nome da Publicação: European Journal Of Human Genetics : Ejhg remover assunto: Genomes remover assunto: Humans remover
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New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
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New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

Domingo, Aloysius ; Westenberger, Ana ; Lee, Lillian V ; Brænne, Ingrid ; Liu, Tian ; Vater, Inga ; Rosales, Raymond ; Jamora, Roland Dominic ; Pasco, Paul Matthew ; Cutiongco-Dela Paz, Eva Maria ; Freimann, Karen ; Schmidt, Thomas Gpm ; Dressler, Dirk ; Kaiser, Frank J ; Bertram, Lars ; Erdmann, Jeanette ; Lohmann, Katja ; Klein, Christine

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1334-1340 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
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Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

Mitt, Mario ; Kals, Mart ; Pärn, Kalle ; Gabriel, Stacey B ; Lander, Eric S ; Palotie, Aarno ; Ripatti, Samuli ; Morris, Andrew P ; Metspalu, Andres ; Esko, Tõnu ; Mägi, Reedik ; Palta, Priit

European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.869-876 [Periódico revisado por pares]

England: Nature Publishing Group

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3
The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants
The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants
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The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

Fadista, João ; Manning, Alisa K ; Florez, Jose C ; Groop, Leif

European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1202-1205 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
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Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

Dusatkova, Petra ; Pfäffle, Roland ; Brown, Milton R ; Akulevich, Natallia ; Arnhold, Ivo J P ; Kalina, Maria A ; Kot, Karolina ; Krzisnik, Ciril ; Lemos, Manuel C ; Malikova, Jana ; Navardauskaite, Ruta ; Obermannova, Barbora ; Pribilincova, Zuzana ; Sallai, Agnes ; Stipancic, Gordana ; Verkauskiene, Rasa ; Cinek, Ondrej ; Blum, Werner F ; Parks, John S ; Austerlitz, Frederic ; Lebl, Jan

European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.415-420 [Periódico revisado por pares]

England: Nature Publishing Group

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5
The Genome of the Netherlands: design, and project goals
The Genome of the Netherlands: design, and project goals
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The Genome of the Netherlands: design, and project goals

Boomsma, Dorret I ; Wijmenga, Cisca ; Slagboom, Eline P ; Swertz, Morris A ; Karssen, Lennart C ; Abdellaoui, Abdel ; Ye, Kai ; Guryev, Victor ; Vermaat, Martijn ; van Dijk, Freerk ; Francioli, Laurent C ; Hottenga, Jouke Jan ; Laros, Jeroen F J ; Li, Qibin ; Li, Yingrui ; Cao, Hongzhi ; Chen, Ruoyan ; Du, Yuanping ; Li, Ning ; Cao, Sujie ; van Setten, Jessica ; Menelaou, Androniki ; Pulit, Sara L ; Hehir-Kwa, Jayne Y ; Beekman, Marian ; Elbers, Clara C ; Byelas, Heorhiy ; de Craen, Anton J M ; Deelen, Patrick ; Dijkstra, Martijn ; den Dunnen, Johan T ; de Knijff, Peter ; Houwing-Duistermaat, Jeanine ; Koval, Vyacheslav ; Estrada, Karol ; Hofman, Albert ; Kanterakis, Alexandros ; Enckevort, David van ; Mai, Hailiang ; Kattenberg, Mathijs ; van Leeuwen, Elisabeth M ; Neerincx, Pieter B T ; Oostra, Ben ; Rivadeneira, Fernanodo ; Suchiman, Eka H D ; Uitterlinden, Andre G ; Willemsen, Gonneke ; Wolffenbuttel, Bruce H ; Wang, Jun ; de Bakker, Paul I W ; van Ommen, Gert-Jan ; van Duijn, Cornelia M

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.221-227 [Periódico revisado por pares]

England: Nature Publishing Group

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6
The phylogenetic and geographic structure of Y-chromosome haplogroup R1a
The phylogenetic and geographic structure of Y-chromosome haplogroup R1a
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The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

Underhill, Peter A ; Poznik, G David ; Rootsi, Siiri ; Järve, Mari ; Lin, Alice A ; Wang, Jianbin ; Passarelli, Ben ; Kanbar, Jad ; Myres, Natalie M ; King, Roy J ; Di Cristofaro, Julie ; Sahakyan, Hovhannes ; Behar, Doron M ; Kushniarevich, Alena ; Sarac, Jelena ; Saric, Tena ; Rudan, Pavao ; Pathak, Ajai Kumar ; Chaubey, Gyaneshwer ; Grugni, Viola ; Semino, Ornella ; Yepiskoposyan, Levon ; Bahmanimehr, Ardeshir ; Farjadian, Shirin ; Balanovsky, Oleg ; Khusnutdinova, Elza K ; Herrera, Rene J ; Chiaroni, Jacques ; Bustamante, Carlos D ; Quake, Stephen R ; Kivisild, Toomas ; Villems, Richard

European journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.124-131 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America
Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America
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Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America

Dryomov, Stanislav V ; Nazhmidenova, Azhar M ; Shalaurova, Sophia A ; Morozov, Igor V ; Tabarev, Andrei V ; Starikovskaya, Elena B ; Sukernik, Rem I

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1399-1404 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
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Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B

Acuña, Mariana ; Martínez, Pablo ; Moraga, Carol ; He, Xingxuan ; Moraga, Mauricio ; Hunter, Bessie ; Nuernberg, Peter ; Gutiérrez, Rodrigo A ; González, Mauricio ; Schuchman, Edward H ; Santos, José Luis ; Miquel, Juan Francisco ; Mabe, Paulina ; Zanlungo, Silvana

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.208-213 [Periódico revisado por pares]

England: Nature Publishing Group

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9
New insights from Thailand into the maternal genetic history of Mainland Southeast Asia
New insights from Thailand into the maternal genetic history of Mainland Southeast Asia
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New insights from Thailand into the maternal genetic history of Mainland Southeast Asia

Kutanan, Wibhu ; Kampuansai, Jatupol ; Brunelli, Andrea ; Ghirotto, Silvia ; Pittayaporn, Pittayawat ; Ruangchai, Sukhum ; Schröder, Roland ; Macholdt, Enrico ; Srikummool, Metawee ; Kangwanpong, Daoroong ; Hübner, Alexander ; Arias, Leonardo ; Stoneking, Mark

European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.898-911 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing
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Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing

Dixon, Katherine ; Shen, Yaoqing ; O'Neill, Kieran ; Mungall, Karen L ; Chan, Simon ; Bilobram, Steve ; Zhang, Wei ; Bezeau, Marjorie ; Sharma, Alshanee ; Fok, Alexandra ; Mungall, Andrew J ; Moore, Richard ; Bosdet, Ian ; Thibodeau, My Linh ; Sun, Sophie ; Yip, Stephen ; Schrader, Kasmintan A ; Jones, Steven J M

European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.602-606 [Periódico revisado por pares]

England: Nature Publishing Group

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