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2
A genomic mutational constraint map using variation in 76,156 human genomes 미리보기

학술저널

issue
NATURE; JAN 4 2024, 625 7993, 27p.
Author
Chen, Siwei
Francioli, Laurent C.
Goodrich, Julia K.
Collins, Ryan L.
Kanai, Masahiro
Wang, Qingbo
Alfoldi, Jessica
Watts, Nicholas A.
Vittal, Christopher
Gauthier, Laura D.
Poterba, Timothy
Wilson, Michael W.
Tarasova, Yekaterina
Phu, William
Grant, Riley
Yohannes, Mary T.
Koenig, Zan
Farjoun, Yossi
Banks, Eric
Donnelly, Stacey
Gabriel, Stacey
Gupta, Namrata
Ferriera, Steven
Tolonen, Charlotte
Novod, Sam
Bergelson, Louis
Roazen, David
Ruano-Rubio, Valentin
Covarrubias, Miguel
Llanwarne, Christopher
Petrillo, Nikelle
Wade, Gordon
Jeandet, Thibault
Munshi, Ruchi
Tibbetts, Kathleen
O'Donnell-Luria, Anne
Solomonson, Matthew
Seed, Cotton
Martin, Alicia R.
Talkowski, Michael E.
Rehm, Heidi L.
Daly, Mark J.
Tiao, Grace
Neale, Benjamin M.
MacArthur, Daniel G.
Karczewski, Konrad J.
Abreu, Maria
Aguilar Salinas, Carlos A.
Ahmad, Tariq
Albert, Christine M.
Ardissino, Diego
Armean, Irina M.
Atkinson, Elizabeth G.
Atzmon, Gil
Barnard, John
Baxter, Samantha M.
Beaugerie, Laurent
Benjamin, Emelia J.
Benjamin, David
Boehnke, Michael
Bonnycastle, Lori L.
Bottinger, Erwin P.
Bowden, Donald W.
Bown, Matthew J.
Brand, Harrison
Brant, Steven
Brookings, Ted
Bryant, Sam
Calvo, Sarah E.
Campos, Hannia
Chambers, John C.
Chan, Juliana C.
Chao, Katherine R.
Chapman, Sinead
Chasman, Daniel I.
Chisholm, Rex
Cho, Judy
Chowdhury, Rajiv
Chung, Mina K.
Chung, Wendy K.
Cibulskis, Kristian
Cohen, Bruce
Connolly, Kristen M.
Correa, Adolfo
Cummings, Beryl B.
Dabelea, Dana
Danesh, John
Darbar, Dawood
Darnowsky, Phil
Denny, Joshua
Duggirala, Ravindranath
Dupuis, Josee
Ellinor, Patrick T.
Elosua, Roberto
Emery, James
England, Eleina
Erdmann, Jeanette
Esko, Tonu
Evangelista, Emily
Fatkin, Diane
Florez, Jose
Franke, Andre
Fu, Jack
Farkkila, Martti
Garimella, Kiran
Gentry, Jeff
Getz, Gad
Glahn, David C.
Glaser, Benjamin
Glatt, Stephen J.
Goldstein, David
Gonzalez, Clicerio
Groop, Leif
Gudmundsson, Sanna
Haessly, Andrea
Haiman, Christopher
Hall, Ira
Hanis, Craig L.
Harms, Matthew
Hiltunen, Mikko
Holi, Matti M.
Hultman, Christina M.
Jalas, Chaim
Kallela, Mikko
Kaplan, Diane
Kaprio, Jaakko
Kathiresan, Sekar
Kenny, Eimear E.
Kim, Bong-Jo
Kim, Young Jin
King, Daniel
Kirov, George
Kooner, Jaspal
Koskinen, Seppo
Krumholz, Harlan M.
Kugathasan, Subra
Kwak, Soo Heon
Laakso, Markku
Lake, Nicole
Langsford, Trevyn
Laricchia, Kristen M.
Lehtimaki, Terho
Lek, Monkol
Lipscomb, Emily
Loos, Ruth J. F.
Lu, Wenhan
Lubitz, Steven A.
Tusie Luna, Teresa
Ma, Ronald C. W.
Marcus, Gregory M.
Marrugat, Jaume
Mattila, Kari M.
McCarroll, Steven
McCarthy, Mark I.
McCauley, Jacob L.
McGovern, Dermot
McPherson, Ruth
Meigs, James B.
Melander, Olle
Metspalu, Andres
Meyers, Deborah
Minikel, Eric V.
Mitchell, Braxton D.
Mootha, Vamsi K.
Naheed, Aliya
Nazarian, Saman
Nilsson, Peter M.
O'Donovan, Michael C.
Okada, Yukinori
Ongur, Dost
Orozco, Lorena
Owen, Michael J.
Palmer, Colin
Palmer, Nicholette D.
Palotie, Aarno
Park, Kyong Soo
Pato, Carlos
Pulver, Ann E.
Rader, Dan
Rahman, Nazneen
Reiner, Alex
Remes, Anne M.
Rhodes, Dan
Rich, Stephen
Rioux, John D.
Ripatti, Samuli
Roden, Dan M.
Rotter, Jerome I.
Sahakian, Nareh
Saleheen, Danish
Salomaa, Veikko
Saltzman, Andrea
Samani, Nilesh J.
Samocha, Kaitlin E.
Sanchis-Juan, Alba
Scharf, Jeremiah
Schleicher, Molly
Schunkert, Heribert
Schoenherr, Sebastian
Seaby, Eleanor G.
Shah, Svati H.
Shand, Megan
Sharpe, Ted
Shoemaker, Moore B.
Shyong, Tai
Silverman, Edwin K.
Singer-Berk, Moriel
Sklar, Pamela
Smith, Jonathan T.
Smith, J. Gustav
Soininen, Hilkka
Sokol, Harry
Son, Rachel G.
Soto, Jose
Spector, Tim
Stevens, Christine
Stitziel, Nathan O.
Sullivan, Patrick F.
Suvisaari, Jaana
Tai, E. Shyong
Taylor, Kent D.
Teo, Yik Ying
Tsuang, Ming
Tuomi, Tiinamaija
Turner, Dan
Tusie-Luna, Teresa
Vartiainen, Erkki
Vawter, Marquis
Wang, Lily
Wang, Arcturus
Ware, James S.
Watkins, Hugh
Weersma, Rinse K.
Weisburd, Ben
Wessman, Maija
Whiffin, Nicola
Wilson, James G.
Xavier, Ramnik J.
Genome Aggregation Database
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Nature)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
4
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death 미리보기

학술저널

issue
NATURE MEDICINE; JAN 19 2023, 28p.
Author
Byrne, Alicia B.
Arts, Peer
Ha, Thuong T.
Kassahn, Karin S.
Pais, Lynn S.
O'Donnell-Luria, Anne
Babic, Milena
Frank, Mahalia S. B.
Feng, Jinghua
Wang, Paul
Lawrence, David M.
Eshraghi, Leila
Arriola, Luis
Toubia, John
Nguyen, Hung
McGillivray, George
Pinner, Jason
McKenzie, Fiona
Morrow, Rebecca
Lipsett, Jill
Manton, Nick
Khong, T. Yee
Moore, Lynette
Liebelt, Jan E.
Schreiber, Andreas W.
King-Smith, Sarah L.
Hardy, Tristan S. E.
Jackson, Matilda R.
Barnett, Christopher P.
Scott, Hamish S.
Aguet, Francois
Arachchi, Harindra M.
Austin-Tse, Christina A.
Babb, Larry
Baxter, Samantha M.
Brand, Harrison
Chang, Jaime
Chao, Katherine R.
Collins, Ryan L.
Cummings, Beryl
Delano, Kayla
DiTroia, Stephanie P.
England, Eleina
Evangelista, Emily
Everett, Selin
Francioli, Laurent C.
Fu, Jack
Ganesh, Vijay S.
Garimella, Kiran, V
Gauthier, Laura D.
Goodrich, Julia K.
Gudmundsson, Sanna
Hall, Stacey J.
Huang, Yongqing
Jahl, Steve
Laricchia, Kristen M.
Larkin, Kathryn E.
Lek, Monkol
Lemire, Gabrielle
Lipson, Rachel B.
Lovgren, Alysia Kern
MacArthur, Daniel G.
Mangilog, Brian E.
Mano, Stacy
Marshall, Jamie L.
Mullen, Thomas E.
Nguyen, Kevin K.
O'Heir, Emily
O'Leary, Melanie C.
Osei-Owusu, Ikeoluwa A.
Chavez, Jorge Perez de Acha
Pierce-Hoffman, Emma
Rehm, Heidi L.
Serrano, Milan
Singer-Berk, Moriel
Snow, Hana
Solomonson, Matthew
Son, Rachel G.
Sveden, Abigail
Talkowski, Michael
Tiao, Grace
Udler, Miriam S.
Valivullah, Zaheer
Valkanas, Elise
VanNoy, Grace E.
Wang, Qingbo S.
Watts, Nicholas A.
Weisburd, Ben
Williamson, Clara E.
Wilson, Michael W.
Witzgall, Lauren
Wojcik, Monica H.
Wong, Isaac
Wood, Jordan C.
Zhang, Shifa
Abeysuriya, Disna
Ades, Lesley C.
Amor, David J.
Arbuckle, Susan
Bakshi, Madhura
Barnete, Christopher P.
Berry, Bligh
Boughtwood, Tiffany
Bournazos, Adam
Bray, Alessandra
Chan, Fiona
Chan, Yuen
Chung, Clara
Clark, Jonathan
Collett, Jackie
Colley, Alison
Collins, Felicity
Cooper, Sandra
Corbett, Mark A.
Dahlstrom, Jane E.
Dargaville, Peter
Davies, Janene
Davis, Tenielle
Dearman, Jarrad
Dissanayake, Jayanthi
Dobbins, Julia
Doyle, Helen
Dubowsky, Andrew
Edwards, Matt
Ewans, Lisa J.
Fadia, Mitali
Fennell, Andrew
Finlay, Ken
French, Andrew
Friend, Kathryn
Gardner, Alison E.
Gecz, Jozef
Graf, Nicole
Haan, Eric A.
Hollingsworth, Georgina
Horton, Ari E.
Howting, Denise
Hunter, Matthew F.
Jevon, Gareth
Kamien, Benjamin
Kennedy, Debra
Krivanek, Michael
Kroes, Thessa
Krzesinski, Emma, I
Kwan, Edward
Lau, Stephanie
LeBlanc, Shannon
Liebelt, Jan
Lindsey-Temple, Suzanna
Loo, Christine K. C.
Low, Julia
Mallawaarachchi, Amali
Matsika, Admire
Mattiske, Tessa
McGaughran, Julie
McGregor, Lesley
Mittal, Namita
Moghimi, Ali
Albayrak, Hatice Mutlu
Ng, Jessica
Nicholl, Jillian
Pachter, Nicholas
Papadimitriou, John
Parker, Renae
Parsons, Sarah
Patel, Chirag
Pawlowski, Rhonda
Perez-Jurado, Luis A.
Pinner, Jason R.
Politis, Katerina
Poulton, Cathryn
Power, Theresa
Quinn, Michael
Rajagopalan, Sulekha
Regan, Matthew
Rodgers, Jonathan
Rorke, Steuart
Sachdev, Rani
Sallevelt, Suzanne
Sandaradura, Sarah A.
Shamassi, Maryam
Shamon, Roshan
Sherburn, Isabella
Slee, Ennie
Solinas, Annalisa
Sugo, Ella
Thompson, Elizabeth
Tripathy, Sagarika
Vasudevan, Anand
Vazquez, Melisa
Verma, Kunal
Viki, Mthulisi
Wallis, Mathew
Webber, Dani L.
Weber, Martin
Whale, Karen
Wilson, Meredith
Worgan, Lisa
Yu, Sui
Brd Inst Ctr Mendelian Genomics
Genomic Autopsy Study Res Network
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Nature)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
7
Challenges Associated with Sulfonylurea Treatment for KATP-related Neonatal Diabetes 미리보기

학술저널

issue
HORMONE RESEARCH IN PAEDIATRICS; JUL 2022, 95 SUPPL 1, p84-p85, 2p. Supplement: 1
Author
Shaaban, Sarah
Son, Rachel G.
Allison, Margaret
Naylor, Rochelle N.
Greeley, Siri Atma W.
DB Label
Database : Science Citation Index Expanded
원문보기
등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
8
Centers for Mendelian Genomics: A decade of facilitating gene discovery 미리보기

정기출판물

issue
Genetics in Medicine; 20220101, Issue: Preprints
Author
Baxter, Samantha M.
Posey, Jennifer E.
Lake, Nicole J.
Sobreira, Nara
Chong, Jessica X.
Buyske, Steven
Blue, Elizabeth E.
Chadwick, Lisa H.
Coban-Akdemir, Zeynep H.
Doheny, Kimberly F.
Davis, Colleen P.
Lek, Monkol
Wellington, Christopher
Jhangiani, Shalini N.
Gerstein, Mark
Gibbs, Richard A.
Lifton, Richard P.
MacArthur, Daniel G.
Matise, Tara C.
Lupski, James R.
Valle, David
Bamshad, Michael J.
Hamosh, Ada
Mane, Shrikant
Nickerson, Deborah A.
Adams, Marcia
Aguet, François
Akay, Gulsen
Anderson, Peter
Antonescu, Corina
Arachchi, Harindra M.
Atik, Mehmed M.
Austin-Tse, Christina A.
Babb, Larry
Bacus, Tamara J.
Bahrambeigi, Vahid
Balasubramanian, Suganthi
Bayram, Yavuz
Beaudet, Arthur L.
Beck, Christine R.
Belmont, John W.
Below, Jennifer E.
Bilguvar, Kaya
Boehm, Corinne D.
Boerwinkle, Eric
Boone, Philip M.
Bowne, Sara J.
Brand, Harrison
Buckingham, Kati J.
Byrne, Alicia B.
Calame, Daniel
Campbell, Ian M.
Cao, Xiaolong
Carvalho, Claudia
Chander, Varuna
Chang, Jaime
Chao, Katherine R.
Chinn, Ivan K.
Clarke, Declan
Collins, Ryan L.
Cummings, Beryl
Dardas, Zain
Dawood, Moez
Delano, Kayla
DiTroia, Stephanie P.
Doddapaneni, Harshavardhan
Du, Haowei
Du, Renqian
Duan, Ruizhi
Eldomery, Mohammad
Eng, Christine M.
England, Eleina
Evangelista, Emily
Everett, Selin
Fatih, Jawid
Felsenfeld, Adam
Francioli, Laurent C.
Frazar, Christian D.
Fu, Jack
Gamarra, Emmanuel
Gambin, Tomasz
Gan, Weiniu
Gandhi, Mira
Ganesh, Vijay S.
Garimella, Kiran V.
Gauthier, Laura D.
Giroux, Danielle
Gonzaga-Jauregui, Claudia
Goodrich, Julia K.
Gordon, William W.
Griffith, Sean
Grochowski, Christopher M.
Gu, Shen
Gudmundsson, Sanna
Hall, Stacey J.
Hansen, Adam
Harel, Tamar
Harmanci, Arif O.
Herman, Isabella
Hetrick, Kurt
Hijazi, Hadia
Horike-Pyne, Martha
Hsu, Elvin
Hu, Jianhong
Huang, Yongqing
Hurless, Jameson R.
Jahl, Steve
Jarvik, Gail P.
Jiang, Yunyun
Johanson, Eric
Jolly, Angad
Karaca, Ender
Khayat, Michael
Knight, James
Kolar, J. Thomas
Kumar, Sushant
Lalani, Seema
Laricchia, Kristen M.
Larkin, Kathryn E.
Leal, Suzanne M.
Lemire, Gabrielle
Lewis, Richard A.
Li, He
Ling, Hua
Lipson, Rachel B.
Liu, Pengfei
Lovgren, Alysia Kern
López-Giráldez, Francesc
MacMillan, Melissa P.
Mangilog, Brian E.
Mano, Stacy
Marafi, Dana
Marosy, Beth
Marshall, Jamie L.
Martin, Renan
Marvin, Colby T.
Mawhinney, Michelle
McGee, Sean
McGoldrick, Daniel J.
Mehaffey, Michelle
Mekonnen, Betselote
Meng, Xiaolu
Mitani, Tadahiro
Miyake, Christina Y.
Mohr, David
Morris, Shaine
Mullen, Thomas E.
Murdock, David R.
Murugan, Mullai
Muzny, Donna M.
Myers, Ben
Neira, Juanita
Nguyen, Kevin K.
Nielsen, Patrick M.
Nudelman, Natalie
O’Heir, Emily
O’Leary, Melanie C.
Ongaco, Chrissie
Orange, Jordan
Osei-Owusu, Ikeoluwa A.
Paine, Ingrid S.
Pais, Lynn S.
Paschall, Justin
Patterson, Karynne
Pehlivan, Davut
Pelle, Benjamin
Penney, Samantha
Perez de Acha Chavez, Jorge
Pierce-Hoffman, Emma
Poli, Cecilia M.
Punetha, Jaya
Radhakrishnan, Aparna
Richardson, Matthew A.
Rodrigues, Eliete
Roote, Gwendolin T.
Rosenfeld, Jill A.
Ryke, Erica L.
Sabo, Aniko
Sanchez, Alice
Schrauwen, Isabelle
Scott, Daryl A.
Sedlazeck, Fritz
Serrano, Jillian
Shaw, Chad A.
Shelford, Tameka
Shively, Kathryn M.
Singer-Berk, Moriel
Smith, Joshua D.
Snow, Hana
Snyder, Grace
Solomonson, Matthew
Son, Rachel G.
Song, Xiaofei
Stankiewicz, Pawel
Stephan, Taylorlyn
Sutton, V. Reid
Sveden, Abigail
Sánchez, Diana Cornejo
Tackett, Monica
Talkowski, Michael
Threlkeld, Machiko S.
Tiao, Grace
Udler, Miriam S.
Vail, Laura
Valivullah, Zaheer
Valkanas, Elise
VanNoy, Grace E.
Wang, Qingbo S.
Wang, Gao
Wang, Lu
Wangler, Michael F.
Watts, Nicholas A.
Weisburd, Ben
Weiss, Jeffrey M.
Wheeler, Marsha M.
White, Janson J.
Williamson, Clara E.
Wilson, Michael W.
Wiszniewski, Wojciech
Withers, Marjorie A.
Witmer, Dane
Witzgall, Lauren
Wohler, Elizabeth
Wojcik, Monica H.
Wong, Isaac
Wood, Jordan C.
Wu, Nan
Xing, Jinchuan
Yang, Yaping
Yi, Qian
Yuan, Bo
Zeiger, Jordan E.
Zhang, Chaofan
Zhang, Peng
Zhang, Yan
Zhang, Xiaohong
Zhang, Yeting
Zhang, Shifa
Zoghbi, Huda
van den Veyver, Igna
Rehm, Heidi L.
O’Donnell-Luria, Anne
DB Label
Database : Supplemental Index
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
9
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. 미리보기

issue
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Mar 09. Date of Electronic Publication: 2023 Mar 09.
Author
Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Gudmundsson S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.
Baxter S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Genomic Informatics Group, University Hospital Southampton, Southampton, United Kingdom.
England E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Wood JC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Son RG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Harrison SM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ambry Genetics, Aliso Viejo, CA, USA.
MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.
Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
DB Label
Database : MEDLINE
1 
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