Assessing the pathogenicity of rare PRNP variants by comparing case and control allele frequency

Eric Vallabh Minikel; Sonia M. Vallabh; Monkol Lek; Karol O. 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 F. J. Kraus; Sabina Eigenbrod; Armin Giese; Miguel Calero; Jesus de Pedro-Cuesta; Stephane Haik; Jean-Louis Laplanche; Elodie Bouaziz-Amar; Jean-Philippe Brandel; Sabina Capellari; Piero Parchi; Anne H. O'Donnell-Luria; Konrad J. Karczewski; Jamie L. Marshall; Michael Boehnke; Markku Laakso; Karen L. Mohlke; Anna Kahler; Kimberly Chambert; Steven McCarroll; Patrick F. Sullivan; Christina M. Hultman; Shaun M. Purcell; Annemieke Rozemuller

Assessing the pathogenicity of rare PRNP variants by comparing case and control allele frequency

Eric Vallabh Minikel
, Sonia M. Vallabh
, Monkol Lek
, Karol O. 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 F. J. Kraus, Sabina Eigenbrod, Armin Giese, Miguel Calero, Jesus de Pedro-Cuesta, Stephane Haik, Jean-Louis Laplanche, Elodie Bouaziz-Amar, Jean-Philippe Brandel, Sabina Capellari, Piero Parchi, Anne H. O'Donnell-Luria, Konrad J. Karczewski, Jamie L. Marshall, Michael Boehnke, Markku Laakso, Karen L. Mohlke, Anna Kahler, Kimberly Chambert, Steven McCarroll, Patrick F. Sullivan, Christina M. Hultman, Shaun M. Purcell, Annemieke Rozemuller,

Research output: Contribution to journal › Meeting Abstract › Other research output

Original language	English
Pages (from-to)	S90-S91
Number of pages	2
Journal	Prion
Volume	9
Publication status	Published - 24 Apr 2015
Externally published	Yes

Cite this

Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K. O., 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. (2015). Assessing the pathogenicity of rare PRNP variants by comparing case and control allele frequency. Prion, 9, S90-S91.

@article{68dc9122bbf14ed0805c9bab5e34696d,

title = "Assessing the pathogenicity of rare PRNP variants by comparing case and control allele frequency",

author = "Minikel, \{Eric Vallabh\} and Vallabh, \{Sonia M.\} and Monkol Lek and Estrada, \{Karol O.\} 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 Kraus, \{Theo F. J.\} and Sabina Eigenbrod and Armin Giese and Miguel Calero and \{de Pedro-Cuesta\}, Jesus and Stephane Haik and Jean-Louis Laplanche and Elodie Bouaziz-Amar and Jean-Philippe Brandel and Sabina Capellari and Piero Parchi and O'Donnell-Luria, \{Anne H.\} and Karczewski, \{Konrad J.\} and Marshall, \{Jamie L.\} and Michael Boehnke and Markku Laakso and Mohlke, \{Karen L.\} and Anna Kahler and Kimberly Chambert and Steven McCarroll and Sullivan, \{Patrick F.\} and Hultman, \{Christina M.\} and Purcell, \{Shaun M.\} and Annemieke Rozemuller",

year = "2015",

month = apr,

day = "24",

language = "English",

volume = "9",

pages = "S90--S91",

journal = "Prion",

issn = "1933-6896",

publisher = "Landes Bioscience",

}

Minikel, EV, Vallabh, SM, Lek, M, Estrada, KO, 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, TFJ, Eigenbrod, S, Giese, A, Calero, M, de Pedro-Cuesta, J, Haik, S, Laplanche, J-L, Bouaziz-Amar, E, Brandel, J-P, Capellari, S, Parchi, P, O'Donnell-Luria, AH, Karczewski, KJ, Marshall, JL, Boehnke, M, Laakso, M, Mohlke, KL, Kahler, A, Chambert, K, McCarroll, S, Sullivan, PF, Hultman, CM, Purcell, SM, Rozemuller, A 2015, 'Assessing the pathogenicity of rare PRNP variants by comparing case and control allele frequency', Prion, vol. 9, pp. S90-S91.

TY - JOUR

T1 - Assessing the pathogenicity of rare PRNP variants by comparing case and control allele frequency

AU - Minikel, Eric Vallabh

AU - Vallabh, Sonia M.

AU - Lek, Monkol

AU - Estrada, Karol O.

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 F. J.

AU - Eigenbrod, Sabina

AU - Giese, Armin

AU - Calero, Miguel

AU - de Pedro-Cuesta, Jesus

AU - Haik, Stephane

AU - Laplanche, Jean-Louis

AU - Bouaziz-Amar, Elodie

AU - Brandel, Jean-Philippe

AU - Capellari, Sabina

AU - Parchi, Piero

AU - O'Donnell-Luria, Anne H.

AU - Karczewski, Konrad J.

AU - Marshall, Jamie L.

AU - Boehnke, Michael

AU - Laakso, Markku

AU - Mohlke, Karen L.

AU - Kahler, Anna

AU - Chambert, Kimberly

AU - McCarroll, Steven

AU - Sullivan, Patrick F.

AU - Hultman, Christina M.

AU - Purcell, Shaun M.

AU - Rozemuller, Annemieke

PY - 2015/4/24

Y1 - 2015/4/24

M3 - Meeting Abstract

SN - 1933-6896

VL - 9

SP - S90-S91

JO - Prion

JF - Prion

ER -