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1
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells 미리보기

학술저널

issue
Molecular Genetics & Genomic Medicine. 7(6)
Author
Newman, John H
Shaver, Aaron
Sheehan, Jonathan H
Mallal, Simon
Stone, John H
Pillai, Shiv
Bastarache, Lisa
Riebau, Derek
Allard‐Chamard, Hugues
Stone, William M
Perugino, Cory
Pilkinton, Mark
Smith, Scott A
McDonnell, Wyatt J
Capra, John A
Meiler, Jens
Cogan, Joy
Xing, Kelly
Mahajan, Vinay S
Mattoo, Hamid
Hamid, Rizwan
Phillips, John A
Adams, David R
Aday, Aaron
Alejandro, Mercedes E
Allard, Patrick
Ashley, Euan A
Azamian, Mahshid S
Bacino, Carlos A
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F
Beggs, Alan H
Behnam, Babak
Bellen, Hugo J
Bernstein, Jonathan A
Bican, Anna
Bick, David P
Birch, Camille L
Bonner, Devon
Boone, Braden E
Bostwick, Bret L
Briere, Lauren C
Brown, Donna M
Brush, Matthew
Burke, Elizabeth A
Burrage, Lindsay C
Butte, Manish J
Chen, Shan
Clark, Gary D
Coakley, Terra R
Cooper, Cynthia M
Cope, Heidi
Craigen, William J
D'Souza, Precilla
Davids, Mariska
Davidson, Jean M
Dayal, Jyoti G
Dell'Angelica, Esteban C
Dhar, Shweta U
Dipple, Katrina M
Donnell‐Fink, Laurel A
Dorrani, Naghmeh
Dorset, Daniel C
Douine, Emilie D
Draper, David D
Dries, Annika M
Eckstein, David J
Emrick, Lisa T
Eng, Christine M
Enns, Gregory M
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fisher, Paul G
Fogel, Brent L
Friedman, Noah D
Gahl, William A
Glanton, Emily
Godfrey, Rena A
Goldman, Alica M
Goldstein, David B
Gould, Sarah E
Gourdine, Jean‐Philippe F
Groden, Catherine A
Gropman, Andrea L
Haendel, Melissa
Hanchard, Neil A
Handley, Lori H
Herzog, Matthew R
High, Francis
Holm, Ingrid A
Hom, Jason
Howerton, Ellen M
Huang, Yong
Jamal, Fariha
Jiang, Yong‐hui
Johnston, Jean M
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
2
IRF2BPL Is Associated with Neurological Phenotypes 미리보기

학술저널

issue
American Journal of Human Genetics. 103(2)
Author
Marcogliese, Paul C
Shashi, Vandana
Spillmann, Rebecca C
Stong, Nicholas
Rosenfeld, Jill A
Koenig, Mary Kay
Martínez-Agosto, Julián A
Herzog, Matthew
Chen, Agnes H
Dickson, Patricia I
Lin, Henry J
Vera, Moin U
Salamon, Noriko
Graham, John M
Ortiz, Damara
Infante, Elena
Steyaert, Wouter
Dermaut, Bart
Poppe, Bruce
Chung, Hyung-Lok
Zuo, Zhongyuan
Lee, Pei-Tseng
Kanca, Oguz
Xia, Fan
Yang, Yaping
Smith, Edward C
Jasien, Joan
Kansagra, Sujay
Spiridigliozzi, Gail
El-Dairi, Mays
Lark, Robert
Riley, Kacie
Koeberl, Dwight D
Golden-Grant, Katie
Diseases, Program for Undiagnosed
Callens, Steven
Coucke, Paul
Hemelsoet, Dimitri
Terryn, Wim
Van Coster, Rudy
Network, Undiagnosed Diseases
Adams, David R
Alejandro, Mercedes E
Allard, Patrick
Azamian, Mahshid S
Bacino, Carlos A
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F
Beggs, Alan H
Behnam, Babak
Bican, Anna
Bick, David P
Birch, Camille L
Bonner, Devon
Boone, Braden E
Bostwick, Bret L
Briere, Lauren C
Brown, Donna M
Brush, Matthew
Burke, Elizabeth A
Burrage, Lindsay C
Chen, Shan
Clark, Gary D
Coakley, Terra R
Cogan, Joy D
Cooper, Cynthia M
Cope, Heidi
Craigen, William J
D’Souza, Precilla
Davids, Mariska
Dayal, Jyoti G
Dell’Angelica, Esteban C
Dhar, Shweta U
Dillon, Ani
Dipple, Katrina M
Donnell-Fink, Laurel A
Dorrani, Naghmeh
Dorset, Daniel C
Douine, Emilie D
Draper, David D
Eckstein, David J
Emrick, Lisa T
Eng, Christine M
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Ferreira, Carlos
Fogel, Brent L
Friedman, Noah D
Gahl, William A
Glanton, Emily
Godfrey, Rena A
Goldstein, David B
Gould, Sarah E
Gourdine, Jean-Philippe F
Groden, Catherine A
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
3
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma 미리보기

학술저널

issue
Neurology: Genetics. Aug 01, 2018 4(4)
Author
Machol, Keren
Jankovic, Joseph
Vijayakumar, Dhanya
Burrage, Lindsay C.
Jain, Mahim
Lewis, Richard A.
Fuller, Gregory N.
Xu, Mingchu
Penas-Prado, Marta
Gule-Monroe, Maria K.
Rosenfeld, Jill A.
Chen, Rui
Eng, Christine M.
Yang, Yaping
Lee, Brendan H.
Moretti, Paolo M.
Dhar, Shweta U.
Alejandro, Mercedes E.
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Bostwick, Bret L.
Burrage, Lindsay C.
Chen, Shan
Clark, Gary D.
Craigen, William J.
Dhar, Shweta U.
Emrick, Lisa T.
Goldman, Alica M.
Hanchard, Neil A.
Jamal, Fariha
Karaviti, Lefkothea
Lalani, Seema R.
Lee, Brendan H.
Lewis, Richard A.
Marom, Ronit
Moretti, Paolo M.
Murdock, David R.
Nicholas, Sarah K.
Orange, Jordan S.
Orengo, James P.
Posey, Jennifer E.
Potocki, Lorraine
Rosenfeld, Jill A.
Samson, Susan L.
Scott, Daryl A.
Tran, Alyssa A.
Vogel, Tiphanie P.
Bellen, Hugo J.
Wangler, Michael F.
Yamamoto, Shinya
Eng, Christine M.
Muzny, Donna M.
Ward, Patricia A.
Yang, Yaping
Goldstein, David B.
Stong, Nicholas
Cope, Heidi
Jiang, Yong-hui
McConkie-Rosell, Allyn
Pena, Loren DM.
Schoch, Kelly
Shashi, Vandana
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Tan, Queenie K.G.
Walley, Nicole M.
Aaron, Aday
Beggs, Alan H.
Briere, Lauren C.
Cooper, Cynthia M.
Donnell-Fink, Laurel A.
High, Francis
Korrick, Susan
Krieg, Elizabeth L.
Krier, Joel B.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
MacRae, Calum A.
Pallais, J. Carl
Rodan, Lance H.
Silverman, Edwin K.
Stoler, Joan M.
Sweetser, David A.
Walker, Melissa
Walsh, Chris A.
Esteves, Cecilia
Glanton, Emily
Holm, Ingrid A.
Kohane, Isaac S.
McCray, Alexa T.
Might, Matthew
LeBlanc, Kimberly
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Brown, Donna M.
Dorset, Daniel C.
Handley, Lori H.
Jones, Angela L.
Lazar, Jozef
Levy, Shawn E.
May, Thomas
Newberry, J. Scott
Schroeder, Molly C.
Worthey, Elizabeth A.
Batzli, Gabriel F.
Dayal, Jyoti G.
Eckstein, David J.
Gould, Sarah E.
Howerton, Ellen M.
Krasnewich, Donna M.
Mamounas, Laura A.
Manolio, Teri A.
Mulvihill, John J.
Urv, Tiina K.
Wise, Anastasia L.
Brush, Matthew
Gourdine, Jean-Philippe F.
Haendel, Melissa
Koeller, David M.
Kyle, Jennifer E.
Metz, Thomas O.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Ashley, Euan A.
Bernstein, Jonathan A.
Bonner, Devon
Coakley, Terra R.
Davidson, Jean M.
Dries, Annika M.
Enns, Gregory M.
Fernandez, Liliana
Fisher, Paul G.
Friedman, Noah D.
Hom, Jason
Huang, Yong
Kohler, Jennefer N.
Majcherska, Marta M.
Marwaha, Shruti
McCormack, Colleen E.
Merker, Jason D.
Reuter, Chloe M.
Sampson, Jacinda B.
Smith, Kevin S.
Waggott, Daryl M.
Wheeler, Matthew T.
Zastrow, Diane B.
Zhao, Chunli
Allard, Patrick
Barseghyan, Hayk
Butte, Manish J.
DellʼAngelica, Esteban C.
Dipple, Katrina M.
Dorrani, Naghmeh
Douine, Emilie D.
Eskin, Ascia
Fogel, Brent L.
Herzog, Matthew R.
Lee, Hane
Loo, Sandra K.
Martin, Martin G.
Martínez-Agosto, Julian A.
Nelson, Stan F.
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Sinsheimer, Janet S.
Vilain, Eric
Wan, Jijun
Yoon, Amanda J.
Zheng, Allison
Behnam, Babak
Burke, Elizabeth A.
DʼSouza, Precilla
Davids, Mariska
Draper, David D.
Estwick, Tyra
Ferreira, Carlos
Godfrey, Rena A.
Groden, Catherine A.
Johnston, Jean M.
Lau, C. Christopher
Macnamara, Ellen F.
Maduro, Valerie V.
Markello, Thomas C.
Morimoto, Marie
Murphy, Jennifer L.
Nehrebecky, Michele E.
Novacic, Donna
Pusey, Barbara N.
Sharma, Prashant
Toro, Camilo
Valivullah, Zaheer M.
Wahl, Colleen E.
Yu, Guoyun
Gropman, Andrea L.
Adams, David R.
Gahl, William A.
Malicdan, May Christine V.
Tifft, Cynthia J.
Wolfe, Lynne A.
Postlethwait, John H.
Westerfield, Monte
Bican, Anna
Hamid, Rizwan
Newman, John H.
Phillips, John A., III
Robertson, Amy K.
Cogan, Joy D.
DB Label
Database : Journals@OVID
원문보기
Full Text (LWW - Ovid)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
4
The impact of rare variation on gene expression across tissues 미리보기

학술저널

issue
Nature. Oct 12, 2017 550(7675):239-243
Author
Li, Xin
Kim, Yungil
Tsang, Emily K.
Davis, Joe R.
Damani, Farhan N.
Chiang, Colby
Hess, Gaelen T.
Zappala, Zachary
Strober, Benjamin J.
Scott, Alexandra J.
Li, Amy
Ganna, Andrea
Bassik, Michael C.
Merker, Jason D.
Aguet, François
Ardlie, Kristin G.
Cummings, Beryl B.
Gelfand, Ellen T.
Getz, Gad
Hadley, Kane
Handsaker, Robert E.
Huang, Katherine H.
Kashin, Seva
Karczewski, Konrad J.
Lek, Monkol
Li, Xiao
MacArthur, Daniel G.
Nedzel, Jared L.
Nguyen, Duyen T.
Noble, Michael S.
Segrè, Ayellet V.
Trowbridge, Casandra A.
Tukiainen, Taru
Abell, Nathan S.
Balliu, Brunilda
Barshir, Ruth
Basha, Omer
Bogu, Gireesh K.
Brown, Andrew
Brown, Christopher D.
Castel, Stephane E.
Chen, Lin S.
Conrad, Donald F.
Cox, Nancy J.
Delaneau, Olivier
Dermitzakis, Emmanouil T.
Engelhardt, Barbara E.
Eskin, Eleazar
Ferreira, Pedro G.
Frésard, Laure
Gamazon, Eric R.
Garrido-Martín, Diego
Gewirtz, Ariel D. H.
Gliner, Genna
Gloudemans, Michael J.
Guigo, Roderic
Hall, Ira M.
Han, Buhm
He, Yuan
Hormozdiari, Farhad
Howald, Cedric
Im, Hae Kyung
Jo, Brian
Kang, Eun Yong
Kim-Hellmuth, Sarah
Lappalainen, Tuuli
Li, Gen
Liu, Boxiang
Mangul, Serghei
McCarthy, Mark I.
McDowell, Ian C.
Mohammadi, Pejman
Monlong, Jean
Muñoz-Aguirre, Manuel
Ndungu, Anne W.
Nicolae, Dan L.
Nobel, Andrew B.
Oliva, Meritxell
Ongen, Halit
Palowitch, John J.
Panousis, Nikolaos
Papasaikas, Panagiotis
Park, Yo Son
Parsana, Princy
Payne, Anthony J.
Peterson, Christine B.
Quan, Jie
Reverter, Ferran
Sabatti, Chiara
Saha, Ashis
Sammeth, Michael
Shabalin, Andrey A.
Sodaei, Reza
Stephens, Matthew
Stranger, Barbara E.
Sul, Jae Hoon
Urbut, Sarah
de Bunt, Martijnvan
Wang, Gao
Wen, Xiaoquan
Wright, Fred A.
Xi, Hualin S.
Yeger-Lotem, Esti
Zaugg, Judith B.
Zhou, Yi-Hui
Akey, Joshua M.
Bates, Daniel
Chan, Joanne
Claussnitzer, Melina
Demanelis, Kathryn
Diegel, Morgan
Doherty, Jennifer A.
Feinberg, Andrew P.
Fernando, Marian S.
Halow, Jessica
Hansen, Kasper D.
Haugen, Eric
Hickey, Peter F.
Hou, Lei
Jasmine, Farzana
Jian, Ruiqi
Jiang, Lihua
Johnson, Audra
Kaul, Rajinder
Kellis, Manolis
Kibriya, Muhammad G.
Lee, Kristen
Li, Jin Billy
Li, Qin
Lin, Jessica
Lin, Shin
Linder, Sandra
Linke, Caroline
Liu, Yaping
Maurano, Matthew T.
Molinie, Benoit
Nelson, Jemma
Neri, Fidencio J.
Park, Yongjin
Pierce, Brandon L.
Rinaldi, Nicola J.
Rizzardi, Lindsay F.
Sandstrom, Richard
Skol, Andrew
Smith, Kevin S.
Snyder, Michael P.
Stamatoyannopoulos, John
Tang, Hua
Wang, Li
Wang, Meng
Van Wittenberghe, Nicholas
Wu, Fan
Zhang, Rui
Nierras, Concepcion R.
Branton, Philip A.
Carithers, Latarsha J.
Guan, Ping
Moore, Helen M.
Rao, Abhi
Vaught, Jimmie B.
Gould, Sarah E.
Lockart, Nicole C.
Martin, Casey
Struewing, Jeffery P.
Volpi, Simona
Addington, Anjene M.
Koester, Susan E.
Little, Roger A.
Brigham, Lori E.
Hasz, Richard
Hunter, Marcus
Johns, Christopher
Johnson, Mark
Kopen, Gene
Leinweber, William F.
Lonsdale, John T.
McDonald, Alisa
Mestichelli, Bernadette
Myer, Kevin
Roe, Brian
Salvatore, Michael
Shad, Saboor
Thomas, Jeffrey A.
Walters, Gary
Washington, Michael
Wheeler, Joseph
Bridge, Jason
Foster, Barbara A.
Gillard, Bryan M.
Karasik, Ellen
Kumar, Rachna
Miklos, Mark
Moser, Michael T.
Jewell, Scott D.
Montroy, Robert G.
Rohrer, Daniel C.
Valley, Dana R.
Davis, David A.
Mash, Deborah C.
Undale, Anita H.
Smith, Anna M.
Tabor, David E.
Roche, Nancy V.
McLean, Jeffrey A.
Vatanian, Negin
Robinson, Karna L.
Sobin, Leslie
Barcus, Mary E.
Valentino, Kimberly M.
Qi, Liqun
Hunter, Steven
Hariharan, Pushpa
Singh, Shilpi
Um, Ki Sung
Matose, Takunda
Tomaszewski, Maria M.
Barker, Laura K.
Mosavel, Maghboeba
Siminoff, Laura A.
Traino, Heather M.
Flicek, Paul
Juettemann, Thomas
Ruffier, Magali
Sheppard, Dan
Taylor, Kieron
Trevanion, Stephen J.
Zerbino, Daniel R.
Craft, Brian
Goldman, Mary
Haeussler, Maximilian
Kent, James W.
Lee, Christopher M.
Paten, Benedict
Rosenbloom, Kate R.
Vivian, John
Zhu, Jingchun
Battle, Alexis
Montgomery, Stephen B.
DB Label
Database : Journals@OVID
원문보기
Full Text (Nature)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
5
Dynamic landscape and regulation of RNA editing in mammals 미리보기

학술저널

issue
Nature. Oct 12, 2017 550(7675):249-254
Author
Tan, Meng How
Li, Qin
Shanmugam, Raghuvaran
Piskol, Robert
Kohler, Jennefer
Young, Amy N.
Liu, Kaiwen Ivy
Zhang, Rui
Ramaswami, Gokul
Ariyoshi, Kentaro
Gupte, Ankita
Keegan, Liam P.
George, Cyril X.
Ramu, Avinash
Huang, Ni
Pollina, Elizabeth A.
Leeman, Dena S.
Rustighi, Alessandra
Goh, Sharon Y. P.
Aguet, François
Ardlie, Kristin G.
Cummings, Beryl B.
Gelfand, Ellen T.
Getz, Gad
Hadley, Kane
Handsaker, Robert E.
Huang, Katherine H.
Kashin, Seva
Karczewski, Konrad J.
Lek, Monkol
Li, Xiao
MacArthur, Daniel G.
Nedzel, Jared L.
Nguyen, Duyen T.
Noble, Michael S.
Segrè, Ayellet V.
Trowbridge, Casandra A.
Tukiainen, Taru
Abell, Nathan S.
Balliu, Brunilda
Barshir, Ruth
Basha, Omer
Battle, Alexis
Bogu, Gireesh K.
Brown, Andrew
Brown, Christopher D.
Castel, Stephane E.
Chen, Lin S.
Chiang, Colby
Conrad, Donald F.
Cox, Nancy J.
Damani, Farhan N.
Davis, Joe R.
Delaneau, Olivier
Dermitzakis, Emmanouil T.
Engelhardt, Barbara E.
Eskin, Eleazar
Ferreira, Pedro G.
Frésard, Laure
Gamazon, Eric R.
Garrido-Martín, Diego
Gewirtz, Ariel D. H.
Gliner, Genna
Gloudemans, Michael J.
Guigo, Roderic
Hall, Ira M.
Han, Buhm
He, Yuan
Hormozdiari, Farhad
Howald, Cedric
Im, Hae Kyung
Jo, Brian
Kang, Eun Yong
Kim, Yungil
Kim-Hellmuth, Sarah
Lappalainen, Tuuli
Li, Gen
Li, Xin
Liu, Boxiang
Mangul, Serghei
McCarthy, Mark I.
McDowell, Ian C.
Mohammadi, Pejman
Monlong, Jean
Montgomery, Stephen B.
Muñoz-Aguirre, Manuel
Ndungu, Anne W.
Nicolae, Dan L.
Nobel, Andrew B.
Oliva, Meritxell
Ongen, Halit
Palowitch, John J.
Panousis, Nikolaos
Papasaikas, Panagiotis
Park, Yo Son
Parsana, Princy
Payne, Anthony J.
Peterson, Christine B.
Quan, Jie
Reverter, Ferran
Sabatti, Chiara
Saha, Ashis
Sammeth, Michael
Scott, Alexandra J.
Shabalin, Andrey A.
Sodaei, Reza
Stephens, Matthew
Stranger, Barbara E.
Strober, Benjamin J.
Sul, Jae Hoon
Tsang, Emily K.
Urbut, Sarah
de Bunt, Martijnvan
Wang, Gao
Wen, Xiaoquan
Wright, Fred A.
Xi, Hualin S.
Yeger-Lotem, Esti
Zappala, Zachary
Zaugg, Judith B.
Zhou, Yi-Hui
Akey, Joshua M.
Bates, Daniel
Chan, Joanne
Claussnitzer, Melina
Demanelis, Kathryn
Diegel, Morgan
Doherty, Jennifer A.
Feinberg, Andrew P.
Fernando, Marian S.
Halow, Jessica
Hansen, Kasper D.
Haugen, Eric
Hickey, Peter F.
Hou, Lei
Jasmine, Farzana
Jian, Ruiqi
Jiang, Lihua
Johnson, Audra
Kaul, Rajinder
Kellis, Manolis
Kibriya, Muhammad G.
Lee, Kristen
Li, Jin Billy
Lin, Jessica
Lin, Shin
Linder, Sandra
Linke, Caroline
Liu, Yaping
Maurano, Matthew T.
Molinie, Benoit
Nelson, Jemma
Neri, Fidencio J.
Park, Yongjin
Pierce, Brandon L.
Rinaldi, Nicola J.
Rizzardi, Lindsay F.
Sandstrom, Richard
Skol, Andrew
Smith, Kevin S.
Snyder, Michael P.
Stamatoyannopoulos, John
Tang, Hua
Wang, Li
Wang, Meng
Van Wittenberghe, Nicholas
Wu, Fan
Nierras, Concepcion R.
Branton, Philip A.
Carithers, Latarsha J.
Guan, Ping
Moore, Helen M.
Rao, Abhi
Vaught, Jimmie B.
Gould, Sarah E.
Lockart, Nicole C.
Martin, Casey
Struewing, Jeffery P.
Volpi, Simona
Addington, Anjene M.
Koester, Susan E.
Little, Roger A.
Brigham, Lori E.
Hasz, Richard
Hunter, Marcus
Johns, Christopher
Johnson, Mark
Kopen, Gene
Leinweber, William F.
Lonsdale, John T.
McDonald, Alisa
Mestichelli, Bernadette
Myer, Kevin
Roe, Brian
Salvatore, Michael
Shad, Saboor
Thomas, Jeffrey A.
Walters, Gary
Washington, Michael
Wheeler, Joseph
Bridge, Jason
Foster, Barbara A.
Gillard, Bryan M.
Karasik, Ellen
Kumar, Rachna
Miklos, Mark
Moser, Michael T.
Jewell, Scott D.
Montroy, Robert G.
Rohrer, Daniel C.
Valley, Dana R.
Davis, David A.
Mash, Deborah C.
Undale, Anita H.
Smith, Anna M.
Tabor, David E.
Roche, Nancy V.
McLean, Jeffrey A.
Vatanian, Negin
Robinson, Karna L.
Sobin, Leslie
Barcus, Mary E.
Valentino, Kimberly M.
Qi, Liqun
Hunter, Steven
Hariharan, Pushpa
Singh, Shilpi
Um, Ki Sung
Matose, Takunda
Tomaszewski, Maria M.
Barker, Laura K.
Mosavel, Maghboeba
Siminoff, Laura A.
Traino, Heather M.
Flicek, Paul
Juettemann, Thomas
Ruffier, Magali
Sheppard, Dan
Taylor, Kieron
Trevanion, Stephen J.
Zerbino, Daniel R.
Craft, Brian
Goldman, Mary
Haeussler, Maximilian
Kent, James W.
Lee, Christopher M.
Paten, Benedict
Rosenbloom, Kate R.
Vivian, John
Zhu, Jingchun
Chawla, Ajay
Del Sal, Giannino
Peltz, Gary
Brunet, Anne
Samuel, Charles E.
O’Connell, Mary A.
Walkley, Carl R.
Nishikura, Kazuko
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6
Genetic effects on gene expression across human tissues 미리보기

학술저널

issue
Nature. Oct 12, 2017 550(7675):204-213
Author
Aguet, François
Ardlie, Kristin G.
Cummings, Beryl B.
Gelfand, Ellen T.
Getz, Gad
Hadley, Kane
Handsaker, Robert E.
Huang, Katherine H.
Kashin, Seva
Karczewski, Konrad J.
Lek, Monkol
Li, Xiao
MacArthur, Daniel G.
Nedzel, Jared L.
Nguyen, Duyen T.
Noble, Michael S.
Segrè, Ayellet V.
Trowbridge, Casandra A.
Tukiainen, Taru
Abell, Nathan S.
Balliu, Brunilda
Barshir, Ruth
Basha, Omer
Battle, Alexis
Bogu, Gireesh K.
Brown, Andrew
Brown, Christopher D.
Castel, Stephane E.
Chen, Lin S.
Chiang, Colby
Conrad, Donald F.
Cox, Nancy J.
Damani, Farhan N.
Davis, Joe R.
Delaneau, Olivier
Dermitzakis, Emmanouil T.
Engelhardt, Barbara E.
Eskin, Eleazar
Ferreira, Pedro G.
Frésard, Laure
Gamazon, Eric R.
Garrido-Martín, Diego
Gewirtz, Ariel D.H.
Gliner, Genna
Gloudemans, Michael J.
Guigo, Roderic
Hall, Ira M.
Han, Buhm
He, Yuan
Hormozdiari, Farhad
Howald, Cedric
Im, Hae Kyung
Jo, Brian
Kang, Eun Yong
Kim, Yungil
Kim-Hellmuth, Sarah
Lappalainen, Tuuli
Li, Gen
Li, Xin
Liu, Boxiang
Mangul, Serghei
McCarthy, Mark I.
McDowell, Ian C.
Mohammadi, Pejman
Monlong, Jean
Montgomery, Stephen B.
Muñoz-Aguirre, Manuel
Ndungu, Anne W.
Nicolae, Dan L.
Nobel, Andrew B.
Oliva, Meritxell
Ongen, Halit
Palowitch, John J.
Panousis, Nikolaos
Papasaikas, Panagiotis
Park, YoSon
Parsana, Princy
Payne, Anthony J.
Peterson, Christine B.
Quan, Jie
Reverter, Ferran
Sabatti, Chiara
Saha, Ashis
Sammeth, Michael
Scott, Alexandra J.
Shabalin, Andrey A.
Sodaei, Reza
Stephens, Matthew
Stranger, Barbara E.
Strober, Benjamin J.
Sul, Jae Hoon
Tsang, Emily K.
Urbut, Sarah
van de Bunt, Martijn
Wang, Gao
Wen, Xiaoquan
Wright, Fred A.
Xi, Hualin S.
Yeger-Lotem, Esti
Zappala, Zachary
Zaugg, Judith B.
Zhou, Yi-Hui
Akey, Joshua M.
Bates, Daniel
Chan, Joanne
Claussnitzer, Melina
Demanelis, Kathryn
Diegel, Morgan
Doherty, Jennifer A.
Feinberg, Andrew P.
Fernando, Marian S.
Halow, Jessica
Hansen, Kasper D.
Haugen, Eric
Hickey, Peter F.
Hou, Lei
Jasmine, Farzana
Jian, Ruiqi
Jiang, Lihua
Johnson, Audra
Kaul, Rajinder
Kellis, Manolis
Kibriya, Muhammad G.
Lee, Kristen
Li, Jin Billy
Li, Qin
Lin, Jessica
Lin, Shin
Linder, Sandra
Linke, Caroline
Liu, Yaping
Maurano, Matthew T.
Molinie, Benoit
Nelson, Jemma
Neri, Fidencio J.
Park, Yongjin
Pierce, Brandon L.
Rinaldi, Nicola J.
Rizzardi, Lindsay F.
Sandstrom, Richard
Skol, Andrew
Smith, Kevin S.
Snyder, Michael P.
Stamatoyannopoulos, John
Tang, Hua
Wang, Li
Wang, Meng
Van Wittenberghe, Nicholas
Wu, Fan
Zhang, Rui
Nierras, Concepcion R.
Branton, Philip A.
Carithers, Latarsha J.
Guan, Ping
Moore, Helen M.
Rao, Abhi
Vaught, Jimmie B.
Gould, Sarah E.
Lockart, Nicole C.
Martin, Casey
Struewing, Jeffery P.
Volpi, Simona
Addington, Anjene M.
Koester, Susan E.
Little, Roger A.
Brigham, Lori E.
Hasz, Richard
Hunter, Marcus
Johns, Christopher
Johnson, Mark
Kopen, Gene
Leinweber, William F.
Lonsdale, John T.
McDonald, Alisa
Mestichelli, Bernadette
Myer, Kevin
Roe, Brian
Salvatore, Michael
Shad, Saboor
Thomas, Jeffrey A.
Walters, Gary
Washington, Michael
Wheeler, Joseph
Bridge, Jason
Foster, Barbara A.
Gillard, Bryan M.
Karasik, Ellen
Kumar, Rachna
Miklos, Mark
Moser, Michael T.
Jewell, Scott D.
Montroy, Robert G.
Rohrer, Daniel C.
Valley, Dana R.
Davis, David A.
Mash, Deborah C.
Undale, Anita H.
Smith, Anna M.
Tabor, David E.
Roche, Nancy V.
McLean, Jeffrey A.
Vatanian, Negin
Robinson, Karna L.
Sobin, Leslie
Barcus, Mary E.
Valentino, Kimberly M.
Qi, Liqun
Hunter, Steven
Hariharan, Pushpa
Singh, Shilpi
Um, Ki Sung
Matose, Takunda
Tomaszewski, Maria M.
Barker, Laura K.
Mosavel, Maghboeba
Siminoff, Laura A.
Traino, Heather M.
Flicek, Paul
Juettemann, Thomas
Ruffier, Magali
Sheppard, Dan
Taylor, Kieron
Trevanion, Stephen J.
Zerbino, Daniel R.
Craft, Brian
Goldman, Mary
Haeussler, Maximilian
Kent, James W.
Lee, Christopher M.
Paten, Benedict
Rosenbloom, Kate R.
Vivian, John
Zhu, Jingchun
Brown, Andrew A.
Nguyen, Duyen Y.
Sullivan, Timothy J.
Addington, Anjene
Koester, Susan
Lockhart, Nicole C.
Roe, Bryan
Valley, Dana
Gewirtz, Ariel D. H.
He, Amy Z.
Quon, Gerald
Ripke, Stephan
Shimko, Tyler C.
Teran, Nicole A.
Zhang, Hailei
Bustamante, Carlos D.
Guigó, Roderic
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7
Landscape of X chromosome inactivation across human tissues 미리보기

학술저널

issue
Nature. Oct 12, 2017 550(7675):244-248
Author
Tukiainen, Taru
Villani, Alexandra-Chloé
Yen, Angela
Rivas, Manuel A.
Marshall, Jamie L.
Satija, Rahul
Aguirre, Matt
Gauthier, Laura
Fleharty, Mark
Kirby, Andrew
Cummings, Beryl B.
Castel, Stephane E.
Karczewski, Konrad J.
Aguet, François
Byrnes, Andrea
Ardlie, Kristin G.
Gelfand, Ellen T.
Getz, Gad
Hadley, Kane
Handsaker, Robert E.
Huang, Katherine H.
Kashin, Seva
Lek, Monkol
Li, Xiao
MacArthur, Daniel G.
Nedzel, Jared L.
Nguyen, Duyen T.
Noble, Michael S.
Segrè, Ayellet V.
Trowbridge, Casandra A.
Abell, Nathan S.
Balliu, Brunilda
Barshir, Ruth
Basha, Omer
Battle, Alexis
Bogu, Gireesh K.
Brown, Andrew
Brown, Christopher D.
Chen, Lin S.
Chiang, Colby
Conrad, Donald F.
Cox, Nancy J.
Damani, Farhan N.
Davis, Joe R.
Delaneau, Olivier
Dermitzakis, Emmanouil T.
Engelhardt, Barbara E.
Eskin, Eleazar
Ferreira, Pedro G.
Frésard, Laure
Gamazon, Eric R.
Garrido-Martín, Diego
Gewirtz, Ariel D. H.
Gliner, Genna
Gloudemans, Michael J.
Guigo, Roderic
Hall, Ira M.
Han, Buhm
He, Yuan
Hormozdiari, Farhad
Howald, Cedric
Im, Hae Kyung
Jo, Brian
Kang, Eun Yong
Kim, Yungil
Kim-Hellmuth, Sarah
Lappalainen, Tuuli
Li, Gen
Li, Xin
Liu, Boxiang
Mangul, Serghei
McCarthy, Mark I.
McDowell, Ian C.
Mohammadi, Pejman
Monlong, Jean
Montgomery, Stephen B.
Muñoz-Aguirre, Manuel
Ndungu, Anne W.
Nicolae, Dan L.
Nobel, Andrew B.
Oliva, Meritxell
Ongen, Halit
Palowitch, John J.
Panousis, Nikolaos
Papasaikas, Panagiotis
Park, Yo Son
Parsana, Princy
Payne, Anthony J.
Peterson, Christine B.
Quan, Jie
Reverter, Ferran
Sabatti, Chiara
Saha, Ashis
Sammeth, Michael
Scott, Alexandra J.
Shabalin, Andrey A.
Sodaei, Reza
Stephens, Matthew
Stranger, Barbara E.
Strober, Benjamin J.
Sul, Jae Hoon
Tsang, Emily K.
Urbut, Sarah
de Bunt, Martijnvan
Wang, Gao
Wen, Xiaoquan
Wright, Fred A.
Xi, Hualin S.
Yeger-Lotem, Esti
Zappala, Zachary
Zaugg, Judith B.
Zhou, Yi-Hui
Akey, Joshua M.
Bates, Daniel
Chan, Joanne
Claussnitzer, Melina
Demanelis, Kathryn
Diegel, Morgan
Doherty, Jennifer A.
Feinberg, Andrew P.
Fernando, Marian S.
Halow, Jessica
Hansen, Kasper D.
Haugen, Eric
Hickey, Peter F.
Hou, Lei
Jasmine, Farzana
Jian, Ruiqi
Jiang, Lihua
Johnson, Audra
Kaul, Rajinder
Kellis, Manolis
Kibriya, Muhammad G.
Lee, Kristen
Li, Jin Billy
Li, Qin
Lin, Jessica
Lin, Shin
Linder, Sandra
Linke, Caroline
Liu, Yaping
Maurano, Matthew T.
Molinie, Benoit
Nelson, Jemma
Neri, Fidencio J.
Park, Yongjin
Pierce, Brandon L.
Rinaldi, Nicola J.
Rizzardi, Lindsay F.
Sandstrom, Richard
Skol, Andrew
Smith, Kevin S.
Snyder, Michael P.
Stamatoyannopoulos, John
Tang, Hua
Wang, Li
Wang, Meng
Van Wittenberghe, Nicholas
Wu, Fan
Zhang, Rui
Nierras, Concepcion R.
Branton, Philip A.
Carithers, Latarsha J.
Guan, Ping
Moore, Helen M.
Rao, Abhi
Vaught, Jimmie B.
Gould, Sarah E.
Lockart, Nicole C.
Martin, Casey
Struewing, Jeffery P.
Volpi, Simona
Addington, Anjene M.
Koester, Susan E.
Little, Roger A.
Brigham, Lori E.
Hasz, Richard
Hunter, Marcus
Johns, Christopher
Johnson, Mark
Kopen, Gene
Leinweber, William F.
Lonsdale, John T.
McDonald, Alisa
Mestichelli, Bernadette
Myer, Kevin
Roe, Brian
Salvatore, Michael
Shad, Saboor
Thomas, Jeffrey A.
Walters, Gary
Washington, Michael
Wheeler, Joseph
Bridge, Jason
Foster, Barbara A.
Gillard, Bryan M.
Karasik, Ellen
Kumar, Rachna
Miklos, Mark
Moser, Michael T.
Jewell, Scott D.
Montroy, Robert G.
Rohrer, Daniel C.
Valley, Dana R.
Davis, David A.
Mash, Deborah C.
Undale, Anita H.
Smith, Anna M.
Tabor, David E.
Roche, Nancy V.
McLean, Jeffrey A.
Vatanian, Negin
Robinson, Karna L.
Sobin, Leslie
Barcus, Mary E.
Valentino, Kimberly M.
Qi, Liqun
Hunter, Steven
Hariharan, Pushpa
Singh, Shilpi
Um, Ki Sung
Matose, Takunda
Tomaszewski, Maria M.
Barker, Laura K.
Mosavel, Maghboeba
Siminoff, Laura A.
Traino, Heather M.
Flicek, Paul
Juettemann, Thomas
Ruffier, Magali
Sheppard, Dan
Taylor, Kieron
Trevanion, Stephen J.
Zerbino, Daniel R.
Craft, Brian
Goldman, Mary
Haeussler, Maximilian
Kent, James W.
Lee, Christopher M.
Paten, Benedict
Rosenbloom, Kate R.
Vivian, John
Zhu, Jingchun
Regev, Aviv
Hacohen, Nir
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8
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases 미리보기

학술저널

issue
SCIENTIFIC DATA; APR 21 2021, 8 1, p114 12p.
Author
Kyle, Jennifer E.
Stratton, Kelly G.
Zink, Erika M.
Kim, Young-Mo
Bloodsworth, Kent J.
Monroe, Matthew E.
Bacino, Carlos A.
Hanchard, Neil A.
Lewis, Richard A.
Rosenfeld, Jill A.
Scott, Daryl A.
Tran, Alyssa A.
Ward, Patricia A.
Burrage, Lindsay C.
Clark, Gary D.
Alejandro, Mercedes E.
Posey, Jennifer E.
Wangler, Michael F.
Lee, Brendan H.
Craigen, William J.
Bellen, Hugo J.
Nicholas, Sarah K.
Bostwick, Bret L.
Samson, Susan L.
Goldman, Alica M.
Moretti, Paolo M.
Eng, Christine M.
Muzny, Donna M.
Orengo, James P.
Vogel, Tiphanie P.
Lalani, Seema R.
Murdock, David R.
Azamian, Mahshid S.
Orange, Jordan S.
Emrick, Lisa T.
Dhar, Shweta U.
Balasubramanyam, Ashok
Potocki, Lorraine
Yamamoto, Shinya
Yang, Yaping
Chen, Shan
Jamal, Fariha
Karaviti, Lefkothea
Marom, Ronit
Lincoln, Sharyn A.
Walsh, Chris A.
Beggs, Alan H.
Rodan, Lance H.
Stoler, Joan M.
Berry, Gerard T.
Cobban, Laurel A.
MacRae, Calum A.
Krier, Joel B.
Silverman, Edwin K.
Fieg, Elizabeth L.
Maas, Richard L.
Loscalzo, Joseph
Aday, Aaron
Korrick, Susan
Goldstein, David B.
Stong, Nicholas
Sullivan, Jennifer A.
Spillmann, Rebecca C.
Pena, Loren D. M.
Tan, Queenie K. -G.
Walley, Nicole M.
Jiang, Yong-hui
McConkie-Rosell, Allyn
Schoch, Kelly
Shashi, Vandana
Cope, Heidi
Holm, Ingrid A.
Kohane, Isaac S.
McCray, Alexa T.
Esteves, Cecilia
LeBlanc, Kimberly
Might, Matthew
Kelley, Emily
Worthey, Elizabeth A.
Dorset, Daniel C.
Boone, Braden E.
Levy, Shawn E.
Birch, Camille L.
Jones, Angela L.
Brown, Donna M.
Bick, David P.
Newberry, J. Scott
Lazar, Jozef
May, Thomas
Sweetser, David A.
Briere, Lauren C.
Pallais, J. Carl
Cooper, Cynthia M.
High, Frances
Walker, Melissa
Colley, Heather A.
Mamounas, Laura A.
Manolio, Teri A.
Burke, Elizabeth A.
Godfrey, Rena A.
Groden, Catherine A.
Gahl, William A.
Wolfe, Lynne A.
Markello, Thomas C.
Lau, C. Christopher
Draper, David D.
Gould, Sarah E.
Nehrebecky, Michele E.
Wahl, Colleen E.
Batzli, Gabriel F.
Macnamara, Ellen F.
Dayal, Jyoti G.
Eckstein, David J.
Mulvihill, John J.
Tifft, Cynthia J.
Urv, Tiina K.
Wise, Anastasia L.
Murphy, Jennifer L.
Gropman, Andrea L.
Howerton, Ellen M.
Krasnewich, Donna M.
Johnston, Jean M.
Pusey, Barbara N.
Adams, David R.
Maduro, Valerie V.
Malicdan, May Christine V.
Davids, Mariska
Estwick, Tyra
Novacic, Donna
Sharma, Prashant
Toro, Camilo
Yu, Guoyun
Behnam, Babak
D'Souza, Precilla
Ferreira, Carlos
Morimoto, Marie
Baker, Eva H.
Yang, John
Gourdine, Jean-Philippe F.
Brush, Matthew
Haendel, Melissa
Ashley, Euan A.
Bernstein, Jonathan A.
Sampson, Jacinda B.
Zastrow, Diane B.
Friedman, Noah D.
Merker, Jason D.
McCormack, Colleen E.
Fisher, Paul G.
Davidson, Jean M.
Dries, Annika M.
Enns, Gregory M.
Majcherska, Marta M.
Reuter, Chloe M.
Waggott, Daryl M.
Kohler, Jennefer N.
Coakley, Terra R.
Smith, Kevin S.
Wheeler, Matthew T.
Bonner, Devon
Fernandez, Liliana
Hom, Jason
Huang, Yong
Marwaha, Shruti
Zhao, Chunli
Martinez-Agosto, Julian A.
Dell'Angelica, Esteban C.
Papp, Jeanette C.
Douine, Emilie D.
Nelson, Stan F.
Martin, Martin G.
Palmer, Christina GS.
Parker, Neil H.
Butte, Manish J.
Yoon, Amanda J.
Loo, Sandra K.
Fogel, Brent L.
Dipple, Katrina M.
Sinsheimer, Janet S.
Allard, Patrick
Barseghyan, Hayk
Dorrani, Naghmeh
Lee, Hane
Vilain, Eric
Eskin, Ascia
Renteria, Genecee
Signer, Rebecca
Wan, Jijun
Zheng, Allison
Westerfield, Monte
Phillips, John A., III
Cogan, Joy D.
Newman, John H.
Robertson, Amy K.
Hamid, Rizwan
Bican, Anna
Brokamp, Elly
Duncan, Laura
Kozuira, Mary
Rives, Lynette
Shakachite, Lisa
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Koeller, David M.
Metz, Thomas O.
Undiagnosed Dis Network
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9
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms 미리보기

학술저널

issue
MOLECULAR GENETICS & GENOMIC MEDICINE; JUN 2019, 7 6, pUNSP e676 7p.
Author
Cassini, Thomas A.
Duncan, Laura
Rives, Lynette C.
Newman, John H.
Phillips, John A.
Koziura, Mary E.
Brault, Jennifer
Hamid, Rizwan
Cogan, Joy
Adams, Christopher J.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mashid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Barseghyan, Hayk
Beggs, Alan H.
Bellen, Hugo J.
Bernstein, Jonathan A.
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Chao, Katherine R.
Chen, Shan
Clark, Gary D.
Cooper, Cynthia M.
Craigen, William J.
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Draper, David D.
Dries, Annika M.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Estwick, Tyra
Fisher, Paul G.
Frisby, Trevor S.
Frost, Kate
Gahl, William A.
Gartner, Valerie
Godfrey, Rena A.
Goheen, Mitchell
Golas, Gretchen A.
Goldstein, David B.
Gordon, Mary G.
Gould, Sarah E.
Gourdine, JeanPhilippe F.
Graham, Brett H.
Groden, Catherine A.
Gropman, Andrea L.
Hackbarth, Mary E.
Haendel, Melissa
Hanchard, Neil A.
Handley, Lori H.
Hardee, Isabel
Herzog, Matthew R.
Holm, Ingrid A.
Howerton, Ellen M.
Jacob, Howard J.
Jain, Mahim
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Koehler, Alanna E.
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krasnewich, Donna M.
Krieg, Elizabeth L.
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Latham, Lea
Latour, Yvonne L.
Lau, C. Christopher
Lazar, Jozef
Lee, Brendan H.
Lee, Hane
Lee, Paul R.
Levy, Shawn E.
Levy, Denise J.
Lewis, Richard A.
Liebendorfer, Adam P.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Mazur, Paul
McCarty, Alexandra J.
McConkie-Rosell, Allyn
McCray, Alexa T.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo M.
Mulvihill, John J.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Pena, Loren D. M.
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Ramoni, Rachel B.
Rodan, Lance H.
Rosenfeld, Jill A.
Sadozai, Sarah
Samson, Susan L.
Schaffer, Katherine E.
Schoch, Kelly
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Shashi, Vandana
Silverman, Edwin K.
Sinsheimer, Janet S.
Soldatos, Ariane G.
Spillmann, Rebecca C.
Splinter, Kimberly
Stoler, Joan M.
Stong, Nicholas
Strong, Kimberly A.
Sullivan, Jennifer A.
Sweetser, David A.
Thomas, Sara P.
Tifft, Cynthia J.
Tolman, Nathanial J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer M.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Wangler, Michael F.
Warburton, Mike
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Weech, Alec A.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yu, Guoyun
Zhang, Jing
Zornio, Patricia A.
Undiagnosed Dis Network
DB Label
Database : Science Citation Index Expanded
원문보기
Open Access (Wiley)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
10
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts 미리보기

학술저널

issue
NATURE MEDICINE; JUN 2019, 25 6, p911-p+, 24p.
Author
Fresard, Laure
Smail, Craig
Ferraro, Nicole M.
Teran, Nicole A.
Li, Xin
Smith, Kevin S.
Bonner, Devon
Kernohan, Kristin D.
Marwaha, Shruti
Zappala, Zachary
Balliu, Brunilda
Davis, Joe R.
Liu, Boxiang
Prybol, Cameron J.
Kohler, Jennefer N.
Zastrow, Diane B.
Reuter, Chloe M.
Fisk, Dianna G.
Grove, Megan E.
Davidson, Jean M.
Hartley, Taila
Joshi, Ruchi
Strober, Benjamin J.
Utiramerur, Sowmithri
Lind, Lars
Ingelsson, Erik
Battle, Alexis
Bejerano, Gill
Bernstein, Jonathan A.
Ashley, Euan A.
Boycott, Kym M.
Merker, Jason D.
Wheeler, Matthew T.
Montgomery, Stephen B.
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Azamian, Mahshid S.
Bacino, Carlos A.
Baker, Eva
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bellen, Hugo J.
Berry, Gerard T.
Bican, Anna
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brokamp, Elly
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cogan, Joy D.
Colley, Heather A.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika M.
Duncan, Laura
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Enns, Gregory M.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldman, Alica M.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
High, Frances
Holm, Ingrid A.
Hom, Jason
Howerton, Ellen M.
Huang, Yong
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Karaviti, Lefkothea
Koeller, David M.
Kohane, Isaac S.
Krasnewich, Donna M.
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, G. Martin
Martinez-Agosto, Julian A.
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Orengo, James P.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D. M.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Renteria, Genecee
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shashi, Vandana
Signer, Rebecca
Silverman, Edwin K.
Sinsheimer, Janet S.
Spillmann, Rebecca C.
Stoler, Joan M.
Stong, Nicholas
Sullivan, Jennifer A.
Sweetser, David A.
Tan, Queenie K. -G.
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wan, Jijun
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Westerfield, Monte
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, John
Yang, Yaping
Yoon, Amanda J.
Yu, Guoyun
Zhao, Chunli
Zheng, Allison
Boycott, Kym
MacKenzie, Alex
Majewski, Jacek
Brudno, Michael
Bulman, Dennis
Dyment, David
Undiagnosed Dis Network
Care4Rare Canada Consortium
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Nature)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
1 2 3 
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