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The complex genetics of hypoplastic left heart syndrome
The complex genetics of hypoplastic left heart syndrome
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The complex genetics of hypoplastic left heart syndrome

Liu, Xiaoqin ; Yagi, Hisato ; Saeed, Shazina ; Bais, Abha S ; Gabriel, George C ; Chen, Zhaohan ; Peterson, Kevin A ; Li, You ; Schwartz, Molly C ; Reynolds, William T ; Saydmohammed, Manush ; Gibbs, Brian ; Wu, Yijen ; Devine, William ; Chatterjee, Bishwanath ; Klena, Nikolai T ; Kostka, Dennis ; de Mesy Bentley, Karen L ; Ganapathiraju, Madhavi K ; Dexheimer, Phillip ; Leatherbury, Linda ; Khalifa, Omar ; Bhagat, Anchit ; Zahid, Maliha ; Pu, William ; Watkins, Simon ; Grossfeld, Paul ; Murray, Stephen A ; Porter, Jr, George A ; Tsang, Michael ; Martin, Lisa J ; Benson, D Woodrow ; Aronow, Bruce J ; Lo, Cecilia W

Nature genetics, 2017-07, Vol.49 (7), p.1152-1159 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Genomic analyses implicate noncoding de novo variants in congenital heart disease
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Genomic analyses implicate noncoding de novo variants in congenital heart disease

Richter, Felix ; Morton, Sarah U ; Kim, Seong Won ; Kitaygorodsky, Alexander ; Wasson, Lauren K ; Chen, Kathleen M ; Zhou, Jian ; Qi, Hongjian ; Patel, Nihir ; DePalma, Steven R ; Parfenov, Michael ; Homsy, Jason ; Gorham, Joshua M ; Manheimer, Kathryn B ; Velinder, Matthew ; Farrell, Andrew ; Marth, Gabor ; Schadt, Eric E ; Kaltman, Jonathan R ; Newburger, Jane W ; Giardini, Alessandro ; Goldmuntz, Elizabeth ; Brueckner, Martina ; Kim, Richard ; Porter, Jr, George A ; Bernstein, Daniel ; Chung, Wendy K ; Srivastava, Deepak ; Tristani-Firouzi, Martin ; Troyanskaya, Olga G ; Dickel, Diane E ; Shen, Yufeng ; Seidman, Jonathan G ; Seidman, Christine E ; Gelb, Bruce D

Nature genetics, 2020-08, Vol.52 (8), p.769-777 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Jin, Sheng Chih ; Homsy, Jason ; Zaidi, Samir ; Lu, Qiongshi ; Morton, Sarah ; DePalma, Steven R ; Zeng, Xue ; Qi, Hongjian ; Chang, Weni ; Sierant, Michael C ; Hung, Wei-Chien ; Haider, Shozeb ; Zhang, Junhui ; Knight, James ; Bjornson, Robert D ; Castaldi, Christopher ; Tikhonoa, Irina R ; Bilguvar, Kaya ; Mane, Shrikant M ; Sanders, Stephan J ; Mital, Seema ; Russell, Mark W ; Gaynor, J William ; Deanfield, John ; Giardini, Alessandro ; Porter, Jr, George A ; Srivastava, Deepak ; Lo, Cecelia W ; Shen, Yufeng ; Watkins, W Scott ; Yandell, Mark ; Yost, H Joseph ; Tristani-Firouzi, Martin ; Newburger, Jane W ; Roberts, Amy E ; Kim, Richard ; Zhao, Hongyu ; Kaltman, Jonathan R ; Goldmuntz, Elizabeth ; Chung, Wendy K ; Seidman, Jonathan G ; Gelb, Bruce D ; Seidman, Christine E ; Lifton, Richard P ; Brueckner, Martina

Nature genetics, 2017-11, Vol.49 (11), p.1593-1601 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Gene encoding protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer
Gene encoding protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer
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Gene encoding protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer

ANAND, Nisha ; MURTHY, Sabita ; LEE, Jonathan M ; AMANN, Gudrun ; WERNICK, Meredith ; PORTER, Lisa A ; CUKIER, I. Howard ; COLLINS, Colin ; GRAY, Joe W ; DIEBOLD, Joachim ; DEMETRICK, Doug J

Nature genetics, 2002-07, Vol.31 (3), p.301-305 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'
Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'
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Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'

Lo, Cecilia W ; Liu, Xiaoqin ; Gabriel, George C ; Martin, Lisa J ; Porter, George A ; Benson, D Woodrow

Nature genetics, 2019-02, Vol.51 (2), p.198-199 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
Construction by gene targeting in human cells of a 'conditional' CDC2 mutant that rereplicates its DNA
Construction by gene targeting in human cells of a 'conditional' CDC2 mutant that rereplicates its DNA
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Construction by gene targeting in human cells of a 'conditional' CDC2 mutant that rereplicates its DNA

Itzhaki, Jane E ; Gilbert, Christopher S ; Porter, Andrew C.G

Nature genetics, 1997-03, Vol.15 (3), p.258-265 [Periódico revisado por pares]

London: Nature Publishing Group

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7
Targeted breakage of a human chromosome mediated by cloned human telomeric DNA
Targeted breakage of a human chromosome mediated by cloned human telomeric DNA
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Targeted breakage of a human chromosome mediated by cloned human telomeric DNA

Itzhaki, J.E ; Barnett, M.A ; MacCarthy, A.B ; Buckle, V.J ; Brown, W.R.A ; Porter, A.C.G

Nature genetics, 1992-12, Vol.2 (4), p.283-287 [Periódico revisado por pares]

NEW YORK: Springer Nature

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8
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

Topaloglu, A Kemal ; O'Rahilly, Stephen ; Reimann, Frank ; Guclu, Metin ; Yalin, Ayse Serap ; Kotan, L Damla ; Porter, Keith M ; Serin, Ayse ; Mungan, Neslihan O ; Cook, Joshua R ; Ozbek, Mehmet N ; Imamoglu, Sazi ; Akalin, N Sema ; Yuksel, Bilgin ; Semple, Robert K

Nature genetics, 2009-03, Vol.41 (3), p.354-358 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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9
Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro
Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro
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Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro

Garcia-Alonso, Luz ; Handfield, Louis-François ; Roberts, Kenny ; Nikolakopoulou, Konstantina ; Fernando, Ridma C ; Gardner, Lucy ; Woodhams, Benjamin ; Arutyunyan, Anna ; Polanski, Krzysztof ; Hoo, Regina ; Sancho-Serra, Carmen ; Li, Tong ; Kwakwa, Kwasi ; Tuck, Elizabeth ; Lorenzi, Valentina ; Massalha, Hassan ; Prete, Martin ; Kleshchevnikov, Vitalii ; Tarkowska, Aleksandra ; Porter, Tarryn ; Mazzeo, Cecilia Icoresi ; van Dongen, Stijn ; Dabrowska, Monika ; Vaskivskyi, Vasyl ; Mahbubani, Krishnaa T ; Park, Jong-Eun ; Jimenez-Linan, Mercedes ; Campos, Lia ; Kiselev, Vladimir Yu ; Lindskog, Cecilia ; Ayuk, Paul ; Prigmore, Elena ; Stratton, Michael R ; Saeb-Parsy, Kourosh ; Moffett, Ashley ; Moore, Luiza ; Bayraktar, Omer A ; Teichmann, Sarah A ; Turco, Margherita Y ; Vento-Tormo, Roser

Nature genetics, 2021-12, Vol.53 (12), p.1698-1711 [Periódico revisado por pares]

United States: Nature Publishing Group US

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10
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
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The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

Wirschell, Maureen ; Olbrich, Heike ; Werner, Claudius ; Tritschler, Douglas ; Bower, Raqual ; Sale, Winfield S ; Loges, Niki T ; Pennekamp, Petra ; Lindberg, Sven ; Stenram, Unne ; Carlén, Birgitta ; Horak, Elisabeth ; Köhler, Gabriele ; Nürnberg, Peter ; Nürnberg, Gudrun ; Porter, Mary E ; Omran, Heymut

Nature genetics, 2013-03, Vol.45 (3), p.262-268 [Periódico revisado por pares]

United States: Nature Publishing Group

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