Open AccessDeterminants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Author(s) -
J.K. Goodrich,
M. Singer-Berk,
Richard Steven- Son,
A. Sveden,
J. Wood,
Emma E. England,
J.B. Cole,
B. Weisburd,
N. Watts,
L. Caulkins,
P. Dornbos,
R. Koesterer,
Z. Zappala,
H. Zhang,
K.A. Maloney,
A. Dahl,
C.A. Aguilar-Salinas,
G. Atzmon,
F. Barajas-Olmos,
N. Barzilai,
J. Blangero,
E. Boerwinkle,
L.L. Bonnycastle,
E. Bottinger,
D.W. Bowden,
F. Centeno-Cruz,
J.C. Chambers,
N. Chami,
E. Chan,
J. Chan,
C.-Y. Cheng,
Y.S. Cho,
C. Contreras-Cubas,
E. Córdova,
A. Correa,
R.A. DeFronzo,
R. Duggirala,
J. Dupuis,
M.E. Garay-Sevilla,
H. García-Ortiz,
C. Gieger,
B. Glaser,
Clicerio GonzálezVillalpando,
M.E. Gonzalez,
N. Grarup,
L. Groop,
M. Gross,
C. Haiman,
S. Han,
C.L. Hanis,
T. Hansen,
N.L. Heard-Costa,
B.E. Henderson,
J.M.M. Hernandez,
M.Y. Hwang,
S. Islas-Andrade,
M.E. Jørgensen,
H.M. Kang,
B.-J. Kim,
Y.J. Kim,
H.A. Koistinen,
J.S. Kooner,
J. Kuusisto,
S.-H. Kwak,
M. Laakso,
L. Lange,
J.-Y. Lee,
J. Lee,
D.M. Lehman,
A. Linneberg,
J. Liu,
R.J.F. Loos,
V. Lyssenko,
R.C.W. Ma,
A. Martínez-Hernández,
J.B. Meigs,
T. Meitinger,
E. Mendoza-Caamal,
K.L. Mohlke,
A.D. Morris,
A.C. Morrison,
M.C.Y. Ng,
P.M. Nilsson,
C.J. Oapos;Donnell,
L. Orozco,
C.N.A. Palmer,
K.S. Park,
W.S. Post,
O. Pedersen,
M. Preuss,
B.M. Psaty,
A.P.s Reiner,
C. Revilla-Monsalve,
S.S. Rich,
J.I. Rotter,
D. Saleheen,
C. Schurmann,
X. Sim,
R. Sladek,
K.S. Small,
W.Y. So,
T.D. Spector,
K. Strauch,
T.M. Strom,
E.S. Tai,
C.H.T. Tam,
Y.Y. Teo,
F. Thameem,
B. Tomlinson,
R.P. Tracy,
T. Tuomi,
J. Tuomilehto,
T. Tusié-Luna,
R.M. van Dam,
R.S. Vasan,
J.G. Wilson,
D.R. Witte,
T.-Y. Wong,
AMP-TD-GENES Consortia,
N.P. Burtt,
N. Zaitlen,
M.I. McCarthy,
M. Boehnke,
T.I. Pollin,
J. Flannick,
J.M. Mercader,
A. Oapos;Donnell-Luria,
S. Baxter,
J.C. Florez,
D.G. MacArthur,
Mariam S Udler
Publication year - 2021
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/2c4z-kk94
Subject(s) - penetrance , expressivity , exome sequencing , genetics , biology , evolutionary biology , exome , computational biology , phenotype , gene