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Issue Date
Title
Author(s)
2021
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Conti, D.V.
;
Darst, B.F.
;
Moss, L.C.
;
Saunders, E.J.
;
Sheng, X.
;
Chou, A.
;
Schumacher, F.R.
;
Olama, A.A.A.
;
Benlloch, S.
;
Dadaev, T.
;
Brook, M.N.
;
Sahimi, A.
;
Hoffmann, T.J.
;
Takahashi, A.
;
Matsuda, K.
;
Momozawa, Y.
;
Fujita, M.
;
Muir, K.
;
Lophatananon, A.
;
Wan, P.
;
et al.
2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, H.
;
Xiong, B.
;
Coe, B.
;
Wang, T.
;
Hoekzema, K.
;
Fenckova, M.
;
Kvarnung, M.
;
Gerdts, J.
;
Trinh, S.
;
Cosemans, N.
;
Vives, L.
;
Lin, J.
;
Turner, T.
;
Santen, G.
;
Ruivenkamp, C.
;
Kriek, M.
;
Van Haeringen, A.
;
Aten, E.
;
Friend, K.
;
Liebelt, J.
;
et al.
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S.
;
Hoischen, A.
;
Coe, B.
;
Carvill, G.
;
van Esch, H.
;
Bosch, D.
;
Andersen, U.
;
Baker, C.
;
Bauters, M.
;
Bernier, R.
;
van Bon, B.
;
Claahsen-van der Grinten, H.
;
Gecz, J.
;
Gilissen, C.
;
Grillo, L.
;
Hackett, A.
;
Kleefstra, T.
;
Koolen, D.
;
Kvarnung, M.
;
Larsen, M.
;
et al.
2017
A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations
Palmer, E.E.
;
Kumar, R.
;
Gordon, C.T.
;
Shaw, M.
;
Hubert, L.
;
Carroll, R.
;
Rio, M.
;
Murray, L.
;
Leffler, M.
;
Dudding-Byth, T.
;
Oufadem, M.
;
Lalani, S.R.
;
Lewis, A.M.
;
Xia, F.
;
Tam, A.
;
Webster, R.
;
Brammah, S.
;
Filippini, F.
;
Pollard, J.
;
Spies, J.
;
et al.
2016
A method to exploit the structure of genetic ancestry space to enhance case-control studies
Bodea, C.A.
;
Neale, B.M.
;
Ripke, S.
;
Barclay, M.
;
Peyrin-Biroulet, L.
;
Chamaillard, M.
;
Colombel, J.F.
;
Cottone, M.
;
Croft, A.
;
D'Incà, R.
;
Halfvarson, J.
;
Hanigan, K.
;
Henderson, P.
;
Hugot, J.P.
;
Karban, A.
;
Kennedy, N.A.
;
Khan, M.A.
;
Lémann, M.
;
Levine, A.
;
Massey, D.
;
et al.
2015
A meta-analysis of gene expression signatures of blood pressure and hypertension
Huan, T.
;
Esko, T.
;
Peters, M.
;
Pilling, L.
;
Schramm, K.
;
Schurmann, C.
;
Chen, B.
;
Liu, C.
;
Joehanes, R.
;
Johnson, A.
;
Yao, C.
;
Ying, S.
;
Courchesne, P.
;
Milani, L.
;
Raghavachari, N.
;
Wang, R.
;
Liu, P.
;
Reinmaa, E.
;
Dehghan, A.
;
Hofman, A.
;
et al.
;
McCarthy, M.
1997
Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the Familial Mediterranean Fever Locus (MEFV) on chromosome 16p13.3
Sood, R.
;
Blake, T.
;
Aksentijevich, I.
;
Wood, G.
;
Chen, X.
;
Gardner, D.
;
Shelton, D.
;
Mangelsdorf, M.
;
Orsborn, A.
;
Pras, E.
;
Balow, J.
;
Centola, M.
;
Deng, Z.
;
Zaks, N.
;
Chen, X.
;
Richards, N.
;
Fischel-Ghodsian, N.
;
Rotter, J.
;
Pras, M.
;
Shohat, M.
;
et al.
2016
Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques
Tenorio, J.
;
Romanelli, V.
;
Martin-Trujillo, A.
;
Fernández, G.M.
;
Segovia, M.
;
Perandones, C.
;
Pérez Jurado, L.A.
;
Esteller, M.
;
Fraga, M.
;
Arias, P.
;
Gordo, G.
;
Dapía, I.
;
Mena, R.
;
Palomares, M.
;
Pérez de Nanclares, G.
;
Nevado, J.
;
García-Miñaur, S.
;
Santos-Simarro, F.
;
Martinez-Glez, V.
;
Vallespín, E.
;
et al.
;
Hennekam, R.C.M.
;
Biesecker, L.G.
2017
Neanderthal behaviour, diet, and disease inferred from ancient DNA in dental calculus
Weyrich, L.
;
Duchene, S.
;
Soubrier, J.
;
Arriola, L.
;
Llamas, B.
;
Breen, J.
;
Morris, A.
;
Alt, K.
;
Caramelli, D.
;
Dresely, V.
;
Farrell, M.
;
Farrer, A.
;
Francken, M.
;
Gully, N.
;
Haak, W.
;
Hardy, K.
;
Harvati, K.
;
Held, P.
;
Holmes, E.
;
Kaidonis, J.
;
et al.
1997
A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups
Balow Jnr., J.
;
Shelton, D.
;
Orsborn, A.
;
Mangelsdorf, M.
;
Aksentijevich, I.
;
Blake, T.
;
Sood, R.
;
Gardner, D.
;
Liu, R.
;
Pras, E.
;
Levy, E.
;
Centola, M.
;
Deng, Z.
;
Zaks, N.
;
Wood, G.
;
Chen, X.
;
Richards, N.
;
Shohat, M.
;
Livneh, A.
;
Pras, M.
;
et al.
Discover
Author
5
Aksentijevich, I.
5
Centola, M.
5
Mallick, S.
5
Rohland, N.
5
Wood, G.
4
Blake, T.
4
Chen, X.
4
Deng, Z.
4
Haak, W.
4
Posth, C.
.
next >
Subject
17
Humans
8
Female
7
Male
5
Amino Acid Sequence
5
Animals
5
Familial Mediterranean Fever
5
Molecular Sequence Data
4
Chromosomes, Human, Pair 16
4
Genetic Predisposition to Disease
4
Sequence Analysis, DNA
.
next >
Date issued
12
2020 - 2023
35
2010 - 2019
5
1997 - 1999