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Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacil...
by
Lim, Qin Ying
,
Leung, Daniel
,
Lam, Crystal K
,
Yang, Xingtian
,
Cheong, Kai N
,
Yik, Andrew K H
,
Yang, Jing
,
Chan, Koon-Wing
,
Lee, Pamela P W
,
Tsumura, Miyuki
,
Au, Elaine Y L
,
Rosa Duque, Jaime S
,
Okada, Satoshi
,
Lau, Yu Lung
Published in
Frontiers in immunology
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Multiethnic polygenic risk scores improve risk prediction in diverse populations
by
Márquez‐Luna, Carla
,
Loh, Po‐Ru
,
Price, Alkes L.
Published in
Genetic epidemiology
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Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium
by
Fan, Qiao
,
Guo, Xiaobo
,
Tideman, J. Willem L.
,
Williams, Katie M.
,
Yazar, Seyhan
,
Hosseini, S. Mohsen
,
Howe, Laura D.
,
Pourcain, Beaté St
,
Evans, David M.
,
Timpson, Nicholas J.
,
McMahon, George
,
Hysi, Pirro G.
,
Krapohl, Eva
,
Wang, Ya Xing
,
Jonas, Jost B.
,
Baird, Paul Nigel
,
Wang, Jie Jin
,
Cheng, Ching-Yu
,
Teo, Yik-Ying
,
Wong, Tien-Yin
,
Ding, Xiaohu
,
Wojciechowski, Robert
,
Young, Terri L.
,
Pärssinen, Olavi
,
Oexle, Konrad
,
Pfeiffer, Norbert
,
Bailey-Wilson, Joan E.
,
Paterson, Andrew D.
,
Klaver, Caroline C. W.
,
Plomin, Robert
,
Hammond, Christopher J.
,
Mackey, David A.
,
He, Mingguang
,
Saw, Seang-Mei
,
Williams, Cathy
,
Guggenheim, Jeremy A.
Published in
Scientific reports
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
by
Son, Rachel
,
England, Eleina
,
Cole, Joanne B.
,
Weisburd, Ben
,
Watts, Nick
,
Caulkins, Lizz
,
Dornbos, Peter
,
Koesterer, Ryan
,
Zappala, Zachary
,
Zhang, Haichen
,
Maloney, Kristin A.
,
Dahl, Andy
,
Aguilar-Salinas, Carlos A.
,
Atzmon, Gil
,
Barajas-Olmos, Francisco
,
Barzilai, Nir
,
Blangero, John
,
Boerwinkle, Eric
,
Bonnycastle, Lori L.
,
Bottinger, Erwin
,
Bowden, Donald W.
,
Chami, Nathalie
,
Chan, Edmund
,
Chan, Juliana
,
Cheng, Ching-Yu
,
Cho, Yoon Shin
,
DeFronzo, Ralph A.
,
Duggirala, Ravindranath
,
Dupuis, Josée
,
Garay-Sevilla, Ma Eugenia
,
Gieger, Christian
,
Glaser, Benjamin
,
González-Villalpando, Clicerio
,
Gonzalez, Ma Elena
,
Grarup, Niels
,
Groop, Leif
,
Gross, Myron
,
Han, Sohee
,
Hansen, Torben
,
Heard-Costa, Nancy L.
,
Henderson, Brian E.
,
Hernandez, Juan Manuel Malacara
,
Islas-Andrade, Sergio
,
Jørgensen, Marit E.
,
Kang, Hyun Min
,
Kim, Bong-Jo
,
Kim, Young Jin
,
Koistinen, Heikki A.
,
Kooner, Jaspal Singh
,
Kuusisto, Johanna
,
Kwak, Soo-Heon
,
Laakso, Markku
,
Lee, Juyoung
,
Lehman, Donna M.
,
Linneberg, Allan
,
Loos, Ruth J. F.
,
Ma, Ronald C. W.
,
Martínez-Hernández, Angélica
,
Meigs, James B.
,
Mendoza-Caamal, Elvia
,
Mohlke, Karen L.
,
Morris, Andrew D.
,
Morrison, Alanna C.
,
Ng, Maggie C. Y.
,
Nilsson, Peter M.
,
Orozco, Lorena
,
Palmer, Colin N. A.
,
Park, Kyong Soo
,
Pedersen, Oluf
,
Reiner, Alexander P.
,
Revilla-Monsalve, Cristina
,
Rich, Stephen S.
,
Rotter, Jerome I.
,
Sim, Xueling
,
Sladek, Rob
,
Small, Kerrin S.
,
So, Wing Yee
,
Spector, Timothy D.
,
Strauch, Konstantin
,
Strom, Tim M.
,
Tai, E. Shyong
,
Tam, Claudia H. T.
,
Teo, Yik Ying
,
Thameem, Farook
,
Tomlinson, Brian
,
Tracy, Russell P.
,
Tuomi, Tiinamaija
,
Tuomilehto, Jaakko
,
Tusié-Luna, Teresa
,
van Dam, Rob M.
,
Wilson, James G.
,
Witte, Daniel R.
,
Wong, Tien-Yin
,
McCarthy, Mark I.
,
Boehnke, Michael
,
O’Donnell-Luria, Anne
,
Baxter, Samantha
,
Florez, Jose C.
,
MacArthur, Daniel G.
,
Udler, Miriam S.
Published in
Nature communications
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Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity
by
Cousminer, Diana L
,
Berry, Diane J
,
Timpson, Nicholas J
,
Ang, Wei
,
Thiering, Elisabeth
,
Byrne, Enda M
,
Taal, H Rob
,
Huikari, Ville
,
Bradfield, Jonathan P
,
Kerkhof, Marjan
,
Groen-Blokhuis, Maria M
,
Kreiner-Møller, Eskil
,
Marinelli, Marcella
,
Holst, Claus
,
Leinonen, Jaakko T
,
Perry, John R B
,
Surakka, Ida
,
Pietiläinen, Olli
,
Kettunen, Johannes
,
Anttila, Verneri
,
Kaakinen, Marika
,
Sovio, Ulla
,
Pouta, Anneli
,
Das, Shikta
,
Lagou, Vasiliki
,
Power, Chris
,
Prokopenko, Inga
,
Evans, David M
,
Kemp, John P
,
St Pourcain, Beate
,
Ring, Susan
,
Palotie, Aarno
,
Kajantie, Eero
,
Osmond, Clive
,
Lehtimäki, Terho
,
Viikari, Jorma S
,
Kähönen, Mika
,
Warrington, Nicole M
,
Lye, Stephen J
,
Palmer, Lyle J
,
Tiesler, Carla M T
,
Flexeder, Claudia
,
Montgomery, Grant W
,
Medland, Sarah E
,
Hofman, Albert
,
Hakonarson, Hakon
,
Guxens, Mònica
,
Bartels, Meike
,
Salomaa, Veikko
,
Murabito, Joanne M
,
Kaprio, Jaakko
,
Sørensen, Thorkild I A
,
Ballester, Ferran
,
Bisgaard, Hans
,
Boomsma, Dorret I
,
Koppelman, Gerard H
,
Grant, Struan F A
,
Jaddoe, Vincent W V
,
Martin, Nicholas G
,
Heinrich, Joachim
,
Pennell, Craig E
,
Raitakari, Olli T
,
Eriksson, Johan G
,
Smith, George Davey
,
Hyppönen, Elina
,
Järvelin, Marjo-Riitta
,
McCarthy, Mark I
,
Ripatti, Samuli
,
Widén, Elisabeth
Published in
Human molecular genetics
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Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium
by
Li, Qing
,
Wojciechowski, Robert
,
Simpson, Claire L.
,
Hysi, Pirro G.
,
Verhoeven, Virginie J. M.
,
Ikram, Mohammad Kamran
,
Höhn, René
,
Vitart, Veronique
,
Hewitt, Alex W.
,
Oexle, Konrad
,
Mäkelä, Kari-Matti
,
MacGregor, Stuart
,
Pirastu, Mario
,
Fan, Qiao
,
Cheng, Ching-Yu
,
St Pourcain, Beaté
,
McMahon, George
,
Kemp, John P.
,
Northstone, Kate
,
Rahi, Jugnoo S.
,
Cumberland, Phillippa M.
,
Martin, Nicholas G.
,
Sanfilippo, Paul G.
,
Lu, Yi
,
Wang, Ya Xing
,
Hayward, Caroline
,
Polašek, Ozren
,
Campbell, Harry
,
Bencic, Goran
,
Wright, Alan F.
,
Wedenoja, Juho
,
Zeller, Tanja
,
Schillert, Arne
,
Mirshahi, Alireza
,
Lackner, Karl
,
Yip, Shea Ping
,
Yap, Maurice K. H.
,
Ried, Janina S.
,
Gieger, Christian
,
Murgia, Federico
,
Wilson, James F.
,
Fleck, Brian
,
Yazar, Seyhan
,
Vingerling, Johannes R.
,
Hofman, Albert
,
Uitterlinden, André
,
Rivadeneira, Fernando
,
Amin, Najaf
,
Karssen, Lennart
,
Oostra, Ben A.
,
Zhou, Xin
,
Teo, Yik-Ying
,
Tai, E. Shyong
,
Vithana, Eranga
,
Barathi, Veluchamy
,
Zheng, Yingfeng
,
Siantar, Rosalynn Grace
,
Neelam, Kumari
,
Shin, Youchan
,
Lam, Janice
,
Yonova-Doing, Ekaterina
,
Venturini, Cristina
,
Hosseini, S. Mohsen
,
Wong, Hoi-Suen
,
Lehtimäki, Terho
,
Kähönen, Mika
,
Raitakari, Olli
,
Timpson, Nicholas J.
,
Evans, David M.
,
Khor, Chiea-Chuen
,
Aung, Tin
,
Young, Terri L.
,
Mitchell, Paul
,
Klein, Barbara
,
van Duijn, Cornelia M.
,
Meitinger, Thomas
,
Jonas, Jost B.
,
Baird, Paul N.
,
Mackey, David A.
,
Wong, Tien Yin
,
Saw, Seang-Mei
,
Pärssinen, Olavi
,
Stambolian, Dwight
,
Hammond, Christopher J.
,
Klaver, Caroline C. W.
,
Williams, Cathy
,
Paterson, Andrew D.
,
Bailey-Wilson, Joan E.
,
Guggenheim, Jeremy A.
Published in
Human genetics
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Is rigorous retrospective harmonization possible? Application of the DataSHaPER approach across 53 large studies
by
Fortier, Isabel
,
Doiron, Dany
,
Little, Julian
,
Ferretti, Vincent
,
L'Heureux, François
,
Stolk, Ronald P
,
Knoppers, Bartha M
,
Hudson, Thomas J
,
Burton, Paul R
Published in
International journal of epidemiology
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A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort
by
Nag, Abhishek
,
Venturini, Cristina
,
Small, Kerrin S
,
Young, Terri L
,
Viswanathan, Ananth C
,
Mackey, David A
,
Hysi, Pirro G
,
Hammond, Christopher
Published in
Human molecular genetics
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Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
by
Mahajan, Anubha
,
Agarwala, Vineeta
,
Koesterer, Ryan
,
Blackwell, Thomas W.
,
Robertson, Neil R.
,
Rayner, N. William
,
Pearson, Richard D.
,
Stringham, Heather M.
,
Gamazon, Eric R.
,
Lee, Jaehoon
,
Go, Min Jin
,
Stitzel, Michael L.
,
Varga, Tibor V.
,
Ferreira, Teresa
,
Huh, Iksoo
,
Lee, Selyeong
,
Lin, Keng-Han
,
Maxwell, Taylor J.
,
Welch, Ryan P.
,
Zhang, Weihua
,
Barzilai, Nir
,
Han, Bok-Ghee
,
Manning, Alisa
,
Balkau, Beverley
,
Abboud, Hanna E.
,
Giedraitis, Vilmantas
,
Kwan, Phoenix
,
Neale, Benjamin M.
,
Butterworth, Adam S.
,
Lam, Vincent K. L.
,
Arya, Rector
,
Chan, Edmund
,
Navarro, Carmen
,
Palli, Domenico
,
Rybin, Dennis
,
Fowler, Sharon P.
,
Griswold, Michael
,
Kumar, Satish
,
Thuillier, Dorothee
,
Liu, Jianjun
,
Puppala, Sobha
,
Yengo, Loic
,
Tan, Sian-Tsung
,
Njolstad, Pal Rasmus
,
Mangino, Massimo
,
Fadista, Joao
,
Herder, Christian
,
Groves, Christopher J.
,
Wieland, Thomas
,
Christensen, Cramer
,
Koistinen, Heikki A.
,
Doney, Alex S. F.
,
Farmer, Andrew J.
,
Kravic, Jasmina
,
Justesen, Johanne Marie
,
Lauritzen, Torsten
,
Milani, Lili
,
Neville, Matt
,
Qi, Lu
,
Rolandsson, Olov
,
Swift, Amy
,
Wood, Andrew R.
,
Mihailov, Evelin
,
Fennell, Timothy
,
Huth, Cornelia
,
Palmer, Colin N. A.
,
Watanabe, Richard M.
,
Syvänen, Ann-Christine
,
Cho, Yoon Shin
,
Chandak, Giriraj R.
,
Jablonski, Kathleen A.
,
Jia, Weiping
,
Ma, Ronald Cw
,
Froguel, Philippe
,
Teo, Yik Ying
,
Grallert, Harald
,
Glaser, Benjamin
,
Metspalu, Andres
,
Walker, Mark
,
Banks, Eric
,
Ingelsson, Erik
,
Im, Hae Kyung
,
Illig, Thomas
,
Trakalo, Joseph
,
Buck, David
,
Magi, Reedik
,
Farjoun, Yossi
,
Gloyn, Anna L.
,
Strauch, Konstantin
,
Tuomi, Tiinamaija
,
Donnelly, Peter
,
Bowden, Donald W.
,
Strom, Tim M.
,
Blangero, John
,
Frayling, Timothy M.
,
Gabriel, Stacey
,
Mohlke, Karen L.
,
Abecasis, Goncalo
,
Morris, Andrew P.
,
Kang, Hyun Min
Published in
Scientific data
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The Galactic Faraday rotation sky 2020
by
Hutschenreuter, Sebastian
,
Anderson, Craig S
,
Betti, Sarah
,
Bower, Geoffrey C
,
Brown, Jo-Anne
,
Brüggen, Marcus
,
Carretti, Ettore
,
Clarke, Tracy
,
Clegg, Andrew
,
Costa, Allison
,
Croft, Steve
,
Cameron Van Eck
,
Gaensler, B M
,
de Gasperin, Francesco
,
Haverkorn, Marijke
,
Heald, George
,
Hull, Charles L H
,
Inoue, Makoto
,
Johnston-Hollitt, Melanie
,
Kaczmarek, Jane
,
Law, Casey
,
Ma, Yik Ki
,
MacMahon, David
,
Mao, Sui Ann
,
Riseley, Christopher
,
Roy, Subhashis
,
Shanahan, Russell
,
Shimwell, Timothy
,
Stil, Jeroen
,
Sobey, Charlotte
,
O'Sullivan, Shane
,
Tasse, Cyril
,
Vacca, Valentina
,
Vernstrom, Tessa
,
Williams, Peter K G
,
Wright, Melvyn
,
Enßlin, Torsten A
Published in
arXiv.org
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