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Integrative clinical genomics of metastatic cancer
Integrative clinical genomics of metastatic cancer
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Integrative clinical genomics of metastatic cancer

Robinson, Dan R ; Wu, Yi-Mi ; Lonigro, Robert J ; Vats, Pankaj ; Cobain, Erin ; Everett, Jessica ; Cao, Xuhong ; Rabban, Erica ; Kumar-Sinha, Chandan ; Raymond, Victoria ; Schuetze, Scott ; Alva, Ajjai ; Siddiqui, Javed ; Chugh, Rashmi ; Worden, Francis ; Zalupski, Mark M ; Innis, Jeffrey ; Mody, Rajen J ; Tomlins, Scott A ; Lucas, David ; Baker, Laurence H ; Ramnath, Nithya ; Schott, Ann F ; Hayes, Daniel F ; Vijai, Joseph ; Offit, Kenneth ; Stoffel, Elena M ; Roberts, J Scott ; Smith, David C ; Kunju, Lakshmi P ; Talpaz, Moshe ; Cieślik, Marcin ; Chinnaiyan, Arul M

Nature (London), 2017-08, Vol.548 (7667), p.297-303 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Human fertility, molecular genetics, and natural selection in modern societies
Human fertility, molecular genetics, and natural selection in modern societies
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Human fertility, molecular genetics, and natural selection in modern societies

Tropf, Felix C ; Stulp, Gert ; Barban, Nicola ; Visscher, Peter M ; Yang, Jian ; Snieder, Harold ; Mills, Melinda C Perry, John R.B

PloS one, 2015-06, Vol.10 (6), p.e0126821 [Periódico revisado por pares]

United States: Public Library of Science

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3
Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics
Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics
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Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics

Nalls, Michael A ; Simon-Sanchez, Javier ; Gibbs, J Raphael ; Paisan-Ruiz, Coro ; Bras, Jose Tomas ; Tanaka, Toshiko ; Matarin, Mar ; Scholz, Sonja ; Weitz, Charles ; Harris, Tamara B ; Ferrucci, Luigi ; Hardy, John ; Singleton, Andrew B Visscher, Peter M.

PLoS genetics, 2009-03, Vol.5 (3), p.e1000415-e1000415 [Periódico revisado por pares]

United States: Public Library of Science

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4
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
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Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals

Koene, Saskia ; Ropers, Fabiënne Gwendolin ; Wieland, Jannelien ; Rybak, Tamara ; Wildschut, Floor ; Berghuis, Dagmar ; Morgan, Angela ; Trelles, Maria Pilar ; Scheepe, Jeroen Ronald ; Bökenkamp, Regina ; Peeters-Scholte, Cacha M P C D ; Braden, Ruth ; Santen, Gijs W E

Journal of medical genetics, 2024-03, Vol.61 (4), p.399-404 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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5
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
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TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy

Chang, Yuchen ; Wacker, Julie ; Ingles, Jodie ; Macciocca, Ivan ; King, Ingrid ; Semsarian, Christopher ; McGaughran, Julie ; Weintraub, Robert G ; Bagnall, Richard D

Journal of medical genetics, 2024-02, Vol.61 (2), p.171-175 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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6
Season of conception in rural gambia affects DNA methylation at putative human metastable epialleles
Season of conception in rural gambia affects DNA methylation at putative human metastable epialleles
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Season of conception in rural gambia affects DNA methylation at putative human metastable epialleles

Waterland, Robert A ; Kellermayer, Richard ; Laritsky, Eleonora ; Rayco-Solon, Pura ; Harris, R Alan ; Travisano, Michael ; Zhang, Wenjuan ; Torskaya, Maria S ; Zhang, Jiexin ; Shen, Lanlan ; Manary, Mark J ; Prentice, Andrew M Whitelaw, Emma

PLoS genetics, 2010-12, Vol.6 (12), p.e1001252-e1001252 [Periódico revisado por pares]

United States: Public Library of Science

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7
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
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Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg, Anthony R ; Skotko, Brian G ; Benkendorf, Judith L ; Monaghan, Kristin G ; Bajaj, Komal ; Best, Robert G ; Klugman, Susan ; Watson, Michael S

Genetics in medicine, 2016-10, Vol.18 (10), p.1056-1065 [Periódico revisado por pares]

United States: Elsevier Limited

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8
Genetics: a gene of rare effect
Genetics: a gene of rare effect
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Genetics: a gene of rare effect

Hall, Stephen S

Nature (London), 2013-04, Vol.496 (7444), p.152-155 [Periódico revisado por pares]

England

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9
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
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Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans

Guo, Rui ; Wu, Huan ; Zhu, Xiaoyu ; Wang, Guanxiong ; Hu, Kaiqin ; Li, Kuokuo ; Geng, Hao ; Xu, Chuan ; Zu, Chenwan ; Gao, Yang ; Tang, Dongdong ; Cao, Yunxia ; He, Xiaojin

Journal of medical genetics, 2024-06, Vol.61 (6), p.553-565 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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10
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
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A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function

Al-deri, Noraldin ; Okur, Volkan ; Ahimaz, Priyanka ; Milev, Miroslav ; Valivullah, Zaheer ; Hagen, Jacob ; Sheng, Yufeng ; Chung, Wendy ; Sacher, Michael ; Ganapathi, Mythily

Journal of medical genetics, 2021-09, Vol.58 (9), p.592-601 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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