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

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

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

Author(s) -

J.K. Goodrich,

M. Singer-Berk,

Runguang 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,

John 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,

Christian Gieger,

B. Glaser,

Clicerio GonzálezVillalpando,

M.E. Gonzalez,

N. Grarup,

L. Groop,

M. Gross,

C. Haiman,

S.H. Han,

C.L. Hanis,

Torben 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,

Angélica MartínezHernández,

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. O apos 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-T D-GENES Consortia,

N.P. Burtt,

N. Zaitlen,

M.I. McCarthy,

M. Boehnke,

T.I. Pollin,

J. Flannick,

J.M. Mercader,

A. O apos Donnell-Luria,

S. Baxter,

J.C. Florez,

D.G. MacArthur,

M.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

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