Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Goodrich, J.K.; Singer-Berk, M.; Son, R.; Sveden, A.; J., Wood,; England, Emma E; Cole, J.B.; Weisburd, B.; Watts, N.; Caulkins, L.; Dornbos, P.; Koesterer, R.; Zappala, Z.; Zhang, H.; Maloney, K.A.; Dahl, A.; Aguilar-Salinas, C.A.; Atzmon, G.; Barajas-Olmos, F.; Barzilai, N.; Blangero, J.; Boerwinkle, E.; Bonnycastle, L.L.; Bottinger, E.; Bowden, D.W.; Centeno-Cruz, F.; Chambers, J.C.; Chami, N.; Chan, E.; J., Chan,; Cheng, C.-Y.; Cho, Y.S.; Contreras-Cubas, C.; Córdova, E.; Correa, A.; DeFronzo, R.A.; Duggirala, R.; Dupuis, J.; Garay-Sevilla, M.E.; García-Ortiz, H.; Gieger, C.; Glaser, B.; González‐Villalpando, Clicerio; Gonzalez, M.E.; Grarup, N.; L.,, Groop,; Gross, M.; Haiman, C.; Han, S.; Hanis, C.L.; Hansen, T.; Heard-Costa, N.L.; Henderson, B.E.; Hernandez, J.M.M.; Hwang, M.Y.; Islas-Andrade, S.; Jørgensen, M.E.; Kang, H.M.; Kim, B.-J.; Kim, Y.J.; Koistinen, H.A.; Kooner, J.S.; Kuusisto, J.; Kwak, S.-H.; Laakso, M.; Lange, L.; Lee, J.-Y.; Lee, J.; Lehman, D.M.; Linneberg, A.; Liu, J.; Loos, R.J.F.; Lyssenko, V.; Ma, R.C.W.; Martínez-Hernández, Alejandro; Meigs, J.B.; Meitinger, T.; Mendoza-Caamal, E.; Mohlke, K.L.; Morris, A.D.; Morrison, A.C.; Ng, M.C.Y.; Nilsson, P.M.; O&apos;Donnell, C.J.; L., Orozco,; Palmer, C.N.A.; Park, K.S.; Post, W.S.; Pedersen, O.; Preuss, M.; Psaty, B.M.; Reiner, A.P.s; Revilla-Monsalve, C.; Rich, S.S.; Rotter, J.I.; Saleheen, D.; Schurmann, C.; Sim, X.; Sladek, R.; Small, K.S.; So, W.Y.; Spector, T.D.; Strauch, K.; Strom, T.M.; Tai, E.S.; Tam, C.H.T.; Teo, Y.Y.; Thameem, F.; Tomlinson, B.; Tracy, R.P.; Tuomi, T.; Tuomilehto, J.; Tusié-Luna, T.; Dam, R.M. van; Vasan, R.S.; Wilson, J.G.; Witte, D.R.; Wong, T.-Y.; Consortia, AMP-T2D-GENES; Burtt, N.P.; Zaitlen, N.; McCarthy, M.I.; Boehnke, M.; Pollin, T.I.; Flannick, J.; Mercader, J.M.; O&apos;Donnell-Luria, A.; Baxter, S.; Florez, J.C.; D.G.,, MacArthur,; Udler, Mariam S

doi:10.17615/2c4z-kk94

2021

DOI: 10.17615/2c4z-kk94

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

J.K. Goodrich¹,

M. Singer-Berk²,

R. Son³

et al.

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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