Quantifying prion disease penetrance using large population control cohorts.

Eric Vallabh Minikel; Sonia M Vallabh; Monkol Lek; Karol Estrada; Kaitlin E Samocha; J Fah Sathirapongsasuti; Cory Y McLean; Joyce Y Tung; Linda P C Yu; Pierluigi Gambetti; Janis Blevins; Shulin Zhang; Yvonne Cohen; Wei Chen; Masahito Yamada; Tsuyoshi Hamaguchi; Nobuo Sanjo; Hidehiro Mizusawa; Yosikazu Nakamura; Tetsuyuki Kitamoto; Steven J Collins; Alison Boyd; Robert G Will; Richard Knight; Claudia Ponto; Inga Zerr; Theo Kraus; Sabina Eigenbrod; Armin Giese; Miguel Calero; Jesús de Pedro-Cuesta; Stéphane Haïk; Jean-Louis Laplanche; Elodie Bouaziz-Amar; Jean-Philippe Brandel; Sabina Capellari; Piero Parchi; Anna Poleggi; Anna Ladogana; Anne H ODonnell-Luria; Konrad J Karczewski; Jamie L Marshall; Michael Boehnke; Markku Laakso; Karen L Mohlke; Anna Kähler; Kimberly Chambert; Steven McCarroll; Patrick F Sullivan; Christina M Hultman; Shaun M Purcell; Pamela Sklar; Sven J van der Lee; Annemieke Rozemuller; Casper Jansen; Albert Hofman; Robert Kraaij; Jeroen G J van Rooij; M Arfan Ikram; André G Uitterlinden; Cornelia M van Duijn; Mark J Daly; Daniel G MacArthur

doi:10.1126/scitranslmed.aad5169

Quantifying prion disease penetrance using large population control cohorts.

Eric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, Karol Estrada, Kaitlin E Samocha, J Fah Sathirapongsasuti, Cory Y McLean, Joyce Y Tung, Linda P C Yu, Pierluigi Gambetti, Janis Blevins, Shulin Zhang, Yvonne Cohen, Wei Chen, Masahito Yamada, Tsuyoshi Hamaguchi, Nobuo Sanjo, Hidehiro Mizusawa, Yosikazu Nakamura, Tetsuyuki KitamotoSteven J Collins, Alison Boyd, Robert G Will, Richard Knight, Claudia Ponto, Inga Zerr, Theo Kraus, Sabina Eigenbrod, Armin Giese, Miguel Calero, Jesús de Pedro-Cuesta, Stéphane Haïk, Jean-Louis Laplanche, Elodie Bouaziz-Amar, Jean-Philippe Brandel, Sabina Capellari, Piero Parchi, Anna Poleggi, Anna Ladogana, Anne H ODonnell-Luria, Konrad J Karczewski, Jamie L Marshall, Michael Boehnke, Markku Laakso, Karen L Mohlke, Anna Kähler, Kimberly Chambert, Steven McCarroll, Patrick F Sullivan, Christina M Hultman, Shaun M Purcell, Pamela Sklar, Sven J van der Lee, Annemieke Rozemuller, Casper Jansen, Albert Hofman, Robert Kraaij, Jeroen G J van Rooij, M Arfan Ikram, André G Uitterlinden, Cornelia M van Duijn, Mark J Daly, Daniel G MacArthur

Universitätsinstitut für Pathologie

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

244 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	322ra9
Fachzeitschrift	SCIENCE TRANSLATIONAL MEDICINE
Jahrgang	8
Ausgabenummer	322
DOIs	https://doi.org/10.1126/scitranslmed.aad5169
Publikationsstatus	Veröffentlicht - 2016

Zugriff auf Dokument

10.1126/scitranslmed.aad5169

Dieses zitieren

Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., Blevins, J., Zhang, S., Cohen, Y., Chen, W., Yamada, M., Hamaguchi, T., Sanjo, N., Mizusawa, H., Nakamura, Y., ... MacArthur, D. G. (2016). Quantifying prion disease penetrance using large population control cohorts. SCIENCE TRANSLATIONAL MEDICINE, 8(322), 322ra9. https://doi.org/10.1126/scitranslmed.aad5169

@article{2034617d93924f60b975422e547641e7,

title = "Quantifying prion disease penetrance using large population control cohorts.",

keywords = "CREUTZFELDT-JAKOB-DISEASE, STRAUSSLER-SCHEINKER-DISEASE, PROTEIN GENE MUTATION, FATAL FAMILIAL INSOMNIA, UNCOMMON POLYMORPHISM RATHER, TRANSGENIC MOUSE MODEL, AMYLOID PRECURSOR GENE, PRNP GENE, POINT MUTATION, R208H MUTATION",

author = "Minikel, {Eric Vallabh} and Vallabh, {Sonia M} and Monkol Lek and Karol Estrada and Samocha, {Kaitlin E} and Sathirapongsasuti, {J Fah} and McLean, {Cory Y} and Tung, {Joyce Y} and Yu, {Linda P C} and Pierluigi Gambetti and Janis Blevins and Shulin Zhang and Yvonne Cohen and Wei Chen and Masahito Yamada and Tsuyoshi Hamaguchi and Nobuo Sanjo and Hidehiro Mizusawa and Yosikazu Nakamura and Tetsuyuki Kitamoto and Collins, {Steven J} and Alison Boyd and Will, {Robert G} and Richard Knight and Claudia Ponto and Inga Zerr and Theo Kraus and Sabina Eigenbrod and Armin Giese and Miguel Calero and {de Pedro-Cuesta}, Jes{\'u}s and St{\'e}phane Ha{\"i}k and Jean-Louis Laplanche and Elodie Bouaziz-Amar and Jean-Philippe Brandel and Sabina Capellari and Piero Parchi and Anna Poleggi and Anna Ladogana and ODonnell-Luria, {Anne H} and Karczewski, {Konrad J} and Marshall, {Jamie L} and Michael Boehnke and Markku Laakso and Mohlke, {Karen L} and Anna K{\"a}hler and Kimberly Chambert and Steven McCarroll and Sullivan, {Patrick F} and Hultman, {Christina M} and Purcell, {Shaun M} and Pamela Sklar and {van der Lee}, {Sven J} and Annemieke Rozemuller and Casper Jansen and Albert Hofman and Robert Kraaij and {van Rooij}, {Jeroen G J} and Ikram, {M Arfan} and Uitterlinden, {Andr{\'e} G} and {van Duijn}, {Cornelia M} and Daly, {Mark J} and MacArthur, {Daniel G}",

year = "2016",

doi = "10.1126/scitranslmed.aad5169",

language = "English",

volume = "8",

pages = "322ra9",

journal = "SCIENCE TRANSLATIONAL MEDICINE",

issn = "1946-6234",

number = "322",

}

Minikel, EV, Vallabh, SM, Lek, M, Estrada, K, Samocha, KE, Sathirapongsasuti, JF, McLean, CY, Tung, JY, Yu, LPC, Gambetti, P, Blevins, J, Zhang, S, Cohen, Y, Chen, W, Yamada, M, Hamaguchi, T, Sanjo, N, Mizusawa, H, Nakamura, Y, Kitamoto, T, Collins, SJ, Boyd, A, Will, RG, Knight, R, Ponto, C, Zerr, I, Kraus, T, Eigenbrod, S, Giese, A, Calero, M, de Pedro-Cuesta, J, Haïk, S, Laplanche, J-L, Bouaziz-Amar, E, Brandel, J-P, Capellari, S, Parchi, P, Poleggi, A, Ladogana, A, ODonnell-Luria, AH, Karczewski, KJ, Marshall, JL, Boehnke, M, Laakso, M, Mohlke, KL, Kähler, A, Chambert, K, McCarroll, S, Sullivan, PF, Hultman, CM, Purcell, SM, Sklar, P, van der Lee, SJ, Rozemuller, A, Jansen, C, Hofman, A, Kraaij, R, van Rooij, JGJ, Ikram, MA, Uitterlinden, AG, van Duijn, CM, Daly, MJ & MacArthur, DG 2016, 'Quantifying prion disease penetrance using large population control cohorts.', SCIENCE TRANSLATIONAL MEDICINE, Jg. 8, Nr. 322, S. 322ra9. https://doi.org/10.1126/scitranslmed.aad5169

TY - JOUR

T1 - Quantifying prion disease penetrance using large population control cohorts.

AU - Minikel, Eric Vallabh

AU - Vallabh, Sonia M

AU - Lek, Monkol

AU - Estrada, Karol

AU - Samocha, Kaitlin E

AU - Sathirapongsasuti, J Fah

AU - McLean, Cory Y

AU - Tung, Joyce Y

AU - Yu, Linda P C

AU - Gambetti, Pierluigi

AU - Blevins, Janis

AU - Zhang, Shulin

AU - Cohen, Yvonne

AU - Chen, Wei

AU - Yamada, Masahito

AU - Hamaguchi, Tsuyoshi

AU - Sanjo, Nobuo

AU - Mizusawa, Hidehiro

AU - Nakamura, Yosikazu

AU - Kitamoto, Tetsuyuki

AU - Collins, Steven J

AU - Boyd, Alison

AU - Will, Robert G

AU - Knight, Richard

AU - Ponto, Claudia

AU - Zerr, Inga

AU - Kraus, Theo

AU - Eigenbrod, Sabina

AU - Giese, Armin

AU - Calero, Miguel

AU - de Pedro-Cuesta, Jesús

AU - Haïk, Stéphane

AU - Laplanche, Jean-Louis

AU - Bouaziz-Amar, Elodie

AU - Brandel, Jean-Philippe

AU - Capellari, Sabina

AU - Parchi, Piero

AU - Poleggi, Anna

AU - Ladogana, Anna

AU - ODonnell-Luria, Anne H

AU - Karczewski, Konrad J

AU - Marshall, Jamie L

AU - Boehnke, Michael

AU - Laakso, Markku

AU - Mohlke, Karen L

AU - Kähler, Anna

AU - Chambert, Kimberly

AU - McCarroll, Steven

AU - Sullivan, Patrick F

AU - Hultman, Christina M

AU - Purcell, Shaun M

AU - Sklar, Pamela

AU - van der Lee, Sven J

AU - Rozemuller, Annemieke

AU - Jansen, Casper

AU - Hofman, Albert

AU - Kraaij, Robert

AU - van Rooij, Jeroen G J

AU - Ikram, M Arfan

AU - Uitterlinden, André G

AU - van Duijn, Cornelia M

AU - Daly, Mark J

AU - MacArthur, Daniel G

PY - 2016

Y1 - 2016

KW - CREUTZFELDT-JAKOB-DISEASE

KW - STRAUSSLER-SCHEINKER-DISEASE

KW - PROTEIN GENE MUTATION

KW - FATAL FAMILIAL INSOMNIA

KW - UNCOMMON POLYMORPHISM RATHER

KW - TRANSGENIC MOUSE MODEL

KW - AMYLOID PRECURSOR GENE

KW - PRNP GENE

KW - POINT MUTATION

KW - R208H MUTATION

U2 - 10.1126/scitranslmed.aad5169

DO - 10.1126/scitranslmed.aad5169

M3 - Original Article

C2 - 26791950

SN - 1946-6234

VL - 8

SP - 322ra9

JO - SCIENCE TRANSLATIONAL MEDICINE

JF - SCIENCE TRANSLATIONAL MEDICINE

IS - 322

ER -