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

Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, Tai ES, Tam CHT, Teo YY, Thameem F, Tomlinson B, Tracy RP, Tuomi T, Tuomilehto J, Tusié-Luna T, van Dam RM, Vasan RS, Wilson JG, Witte DR, Wong TY, AMP-T2D-GENES Consortia, Burtt NP, Zaitlen N, McCarthy MI, Boehnke M, Pollin TI, Flannick J, Mercader JM, O'Donnell-Luria A, Baxter S, Florez JC, MacArthur DG, Udler MS

Open source

DOI
10.1038/s41467-021-23556-4
Published
2021 Jun 9
Container
Nature communications
Publisher
Not recorded
Open access
yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1038/s41467-021-23556-4,
  title = {Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.},
  author = {Goodrich JK and Singer-Berk M and Son R and Sveden A and Wood J and England E and Cole JB and Weisburd B and Watts N and Caulkins L and Dornbos P and Koesterer R and Zappala Z and Zhang H and Maloney KA and Dahl A and Aguilar-Salinas CA and Atzmon G and Barajas-Olmos F and Barzilai N and Blangero J and Boerwinkle E and Bonnycastle LL and Bottinger E and Bowden DW and Centeno-Cruz F and Chambers JC and Chami N and Chan E and Chan J and Cheng CY and Cho YS and Contreras-Cubas C and Córdova E and Correa A and DeFronzo RA and Duggirala R and Dupuis J and Garay-Sevilla ME and García-Ortiz H and Gieger C and Glaser B and González-Villalpando C and Gonzalez ME and Grarup N and Groop L and Gross M and Haiman C and Han S and Hanis CL and Hansen T and Heard-Costa NL and Henderson BE and Hernandez JMM and Hwang MY and Islas-Andrade S and Jørgensen ME and Kang HM and Kim BJ and Kim YJ and Koistinen HA and Kooner JS and Kuusisto J and Kwak SH and Laakso M and Lange L and Lee JY and Lee J and Lehman DM and Linneberg A and Liu J and Loos RJF and Lyssenko V and Ma RCW and Martínez-Hernández A and Meigs JB and Meitinger T and Mendoza-Caamal E and Mohlke KL and Morris AD and Morrison AC and Ng MCY and Nilsson PM and O'Donnell CJ and Orozco L and Palmer CNA and Park KS and Post WS and Pedersen O and Preuss M and Psaty BM and Reiner AP and Revilla-Monsalve C and Rich SS and Rotter JI and Saleheen D and Schurmann C and Sim X and Sladek R and Small KS and So WY and Spector TD and Strauch K and Strom TM and Tai ES and Tam CHT and Teo YY and Thameem F and Tomlinson B and Tracy RP and Tuomi T and Tuomilehto J and Tusié-Luna T and van Dam RM and Vasan RS and Wilson JG and Witte DR and Wong TY and AMP-T2D-GENES Consortia and Burtt NP and Zaitlen N and McCarthy MI and Boehnke M and Pollin TI and Flannick J and Mercader JM and O'Donnell-Luria A and Baxter S and Florez JC and MacArthur DG and Udler MS},
  year = {2021},
  journal = {Nature communications},
  doi = {10.1038/s41467-021-23556-4},
  url = {https://doi.org/10.1038/s41467-021-23556-4}
}

RIS

TY  - JOUR
TI  - Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
AU  - Goodrich JK
AU  - Singer-Berk M
AU  - Son R
AU  - Sveden A
AU  - Wood J
AU  - England E
AU  - Cole JB
AU  - Weisburd B
AU  - Watts N
AU  - Caulkins L
AU  - Dornbos P
AU  - Koesterer R
AU  - Zappala Z
AU  - Zhang H
AU  - Maloney KA
AU  - Dahl A
AU  - Aguilar-Salinas CA
AU  - Atzmon G
AU  - Barajas-Olmos F
AU  - Barzilai N
AU  - Blangero J
AU  - Boerwinkle E
AU  - Bonnycastle LL
AU  - Bottinger E
AU  - Bowden DW
AU  - Centeno-Cruz F
AU  - Chambers JC
AU  - Chami N
AU  - Chan E
AU  - Chan J
AU  - Cheng CY
AU  - Cho YS
AU  - Contreras-Cubas C
AU  - Córdova E
AU  - Correa A
AU  - DeFronzo RA
AU  - Duggirala R
AU  - Dupuis J
AU  - Garay-Sevilla ME
AU  - García-Ortiz H
AU  - Gieger C
AU  - Glaser B
AU  - González-Villalpando C
AU  - Gonzalez ME
AU  - Grarup N
AU  - Groop L
AU  - Gross M
AU  - Haiman C
AU  - Han S
AU  - Hanis CL
AU  - Hansen T
AU  - Heard-Costa NL
AU  - Henderson BE
AU  - Hernandez JMM
AU  - Hwang MY
AU  - Islas-Andrade S
AU  - Jørgensen ME
AU  - Kang HM
AU  - Kim BJ
AU  - Kim YJ
AU  - Koistinen HA
AU  - Kooner JS
AU  - Kuusisto J
AU  - Kwak SH
AU  - Laakso M
AU  - Lange L
AU  - Lee JY
AU  - Lee J
AU  - Lehman DM
AU  - Linneberg A
AU  - Liu J
AU  - Loos RJF
AU  - Lyssenko V
AU  - Ma RCW
AU  - Martínez-Hernández A
AU  - Meigs JB
AU  - Meitinger T
AU  - Mendoza-Caamal E
AU  - Mohlke KL
AU  - Morris AD
AU  - Morrison AC
AU  - Ng MCY
AU  - Nilsson PM
AU  - O'Donnell CJ
AU  - Orozco L
AU  - Palmer CNA
AU  - Park KS
AU  - Post WS
AU  - Pedersen O
AU  - Preuss M
AU  - Psaty BM
AU  - Reiner AP
AU  - Revilla-Monsalve C
AU  - Rich SS
AU  - Rotter JI
AU  - Saleheen D
AU  - Schurmann C
AU  - Sim X
AU  - Sladek R
AU  - Small KS
AU  - So WY
AU  - Spector TD
AU  - Strauch K
AU  - Strom TM
AU  - Tai ES
AU  - Tam CHT
AU  - Teo YY
AU  - Thameem F
AU  - Tomlinson B
AU  - Tracy RP
AU  - Tuomi T
AU  - Tuomilehto J
AU  - Tusié-Luna T
AU  - van Dam RM
AU  - Vasan RS
AU  - Wilson JG
AU  - Witte DR
AU  - Wong TY
AU  - AMP-T2D-GENES Consortia
AU  - Burtt NP
AU  - Zaitlen N
AU  - McCarthy MI
AU  - Boehnke M
AU  - Pollin TI
AU  - Flannick J
AU  - Mercader JM
AU  - O'Donnell-Luria A
AU  - Baxter S
AU  - Florez JC
AU  - MacArthur DG
AU  - Udler MS
PY  - 2021
JO  - Nature communications
DO  - 10.1038/s41467-021-23556-4
UR  - https://doi.org/10.1038/s41467-021-23556-4
ER  -

APA

JK, G., M, S., R, S., A, S., J, W., E, E., JB, C., B, W., N, W., L, C., P, D., R, K., Z, Z., H, Z., KA, M., A, D., CA, A., G, A., F, B., N, B., J, B., E, B., LL, B., E, B., DW, B., F, C., JC, C., N, C., E, C., J, C., CY, C., YS, C., C, C., E, C., A, C., RA, D., R, D., J, D., ME, G., H, G., C, G., B, G., C, G., ME, G., N, G., L, G., M, G., C, H., S, H., CL, H., T, H., NL, H., BE, H., JMM, H., MY, H., S, I., ME, J., HM, K., BJ, K., YJ, K., HA, K., JS, K., J, K., SH, K., M, L., L, L., JY, L., J, L., DM, L., A, L., J, L., RJF, L., V, L., RCW, M., A, M., JB, M., T, M., E, M., KL, M., AD, M., AC, M., MCY, N., PM, N., CJ, O., L, O., CNA, P., KS, P., WS, P., O, P., M, P., BM, P., AP, R., C, R., SS, R., JI, R., D, S., C, S., X, S., R, S., KS, S., WY, S., TD, S., K, S., TM, S., ES, T., CHT, T., YY, T., F, T., B, T., RP, T., T, T., J, T., T, T., RM, V. D., RS, V., JG, W., DR, W., TY, W., Consortia, A., NP, B., N, Z., MI, M., M, B., TI, P., J, F., JM, M., A, O., S, B., JC, F., DG, M., & MS, U. (2021). Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.. Nature communications. https://doi.org/10.1038/s41467-021-23556-4

Source records