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6
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project 미리보기

학술저널

issue
HUMAN GENOMICS; APR 29 2024, 18 1, p44 25p.
Author
Stenton, Sarah L.
O'Leary, Melanie C.
Lemire, Gabrielle
Vannoy, Grace E.
Ditroia, Stephanie
Ganesh, Vijay S.
Groopman, Emily
O'Heir, Emily
Mangilog, Brian
Osei-Owusu, Ikeoluwa
Pais, Lynn S.
Serrano, Jillian
Singer-Berk, Moriel
Weisburd, Ben
Wilson, Michael W.
Austin-Tse, Christina
Abdelhakim, Marwa
Althagafi, Azza
Babbi, Giulia
Bellazzi, Riccardo
Bovo, Samuele
Carta, Maria Giulia
Casadio, Rita
Coenen, Pieter-Jan
De Paoli, Federica
Floris, Matteo
Gajapathy, Manavalan
Hoehndorf, Robert
Jacobsen, Julius O. B.
Joseph, Thomas
Kamandula, Akash
Katsonis, Panagiotis
Kint, Cyrielle
Lichtarge, Olivier
Limongelli, Ivan
Lu, Yulan
Magni, Paolo
Mamidi, Tarun Karthik Kumar
Martelli, Pier Luigi
Mulargia, Marta
Nicora, Giovanna
Nykamp, Keith
Pejaver, Vikas
Peng, Yisu
Pham, Thi Hong Cam
Podda, Maurizio S.
Rao, Aditya
Rizzo, Ettore
Saipradeep, Vangala G.
Savojardo, Castrense
Schols, Peter
Shen, Yang
Sivadasan, Naveen
Smedley, Damian
Soru, Dorian
Srinivasan, Rajgopal
Sun, Yuanfei
Sunderam, Uma
Tan, Wuwei
Tiwari, Naina
Wang, Xiao
Wang, Yaqiong
Williams, Amanda
Worthey, Elizabeth A.
Yin, Rujie
You, Yuning
Zeiberg, Daniel
Zucca, Susanna
Bakolitsa, Constantina
Brenner, Steven E.
Fullerton, Stephanie M.
Radivojac, Predrag
Rehm, Heidi L.
O'Donnell-Luria, Anne
DB Label
Database : Science Citation Index Expanded
원문보기
Open Access (BioMed Central)  OA (Springer)  등재 - SCOPUS  조회 - Impact Factor (JCR)  등재 - Web of Science 
7
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 미리보기

학술저널

issue
American Journal of Human Genetics. 104(6)
Author
O’Donnell-Luria, Anne H
Pais, Lynn S
Faundes, Víctor
Wood, Jordan C
Sveden, Abigail
Luria, Victor
Jamra, Rami Abou
Accogli, Andrea
Amburgey, Kimberly
Anderlid, Britt Marie
Azzarello-Burri, Silvia
Basinger, Alice A
Bianchini, Claudia
Bird, Lynne M
Buchert, Rebecca
Carre, Wilfrid
Ceulemans, Sophia
Charles, Perrine
Cox, Helen
Culliton, Lisa
Currò, Aurora
Study, Deciphering Developmental Disorders
McRae, Jeremy F
Clayton, Stephen
Fitzgerald, Tomas W
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D
King, Daniel
Krishnappa, Netravathi
Mason, Laura E
Singh, Tarjinder
Tivey, Adrian R
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N
Connell, Fiona
Cooper, Nicola
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D’Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
8
Bi-allelic variants in INTS11 are associated with a complex neurological disorder 미리보기

학술저널

issue
In The American Journal of Human Genetics 4 May 2023 110(5):774-789
Author
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennet, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brokamp, Elly
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Peter Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D'Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Deardorff, Matthew
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Duncan, Laura
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Falk, Marni
Fernandez, Liliana
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Godfrey, Rena A.
Golden-Grant, Katie
Goldrich, Madison P.
Grajewski, Alana
Gutierrez, Irma
Hadley, Don
Hahn, Sihoun
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yong
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Kennedy, Jennifer
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Korrick, Susan
Koziura, Mary
Lalani, Seema R.
Lam, Byron
Lam, Christina
LaMoure, Grace L.
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Mahoney, Rachel
Mak, Bryan C.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo M.
Nakano-Okuno, Mariko
Nelson, Stan F.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Pusey, Barbara N.
Quinlan, Aaron
Raskind, Wendy
Raja, Archana N.
Rao, Deepak A.
Raper, Anna
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, C. Ron
Scott, Daryl A.
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solem, Emily
Krezel, Lilianna Solnica
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Jennifer A.
Sullivan, Kathleen
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Amelia L.M.
Tan, Queenie K.- G.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Tucker, Brianna M.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz-Hubshman, Monika
Wener, Mark
Wenger, Tara
Perry, Katherine Wesseling
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zastrow, Diane B.
Zhang, Zhe
Zhao, Chunli
Zuchner, Stephan
Tepe, Burak
Macke, Erica L.
Niceta, Marcello
Weisz Hubshman, Monika
Kanca, Oguz
Schultz-Rogers, Laura
Zarate, Yuri A.
Schaefer, G. Bradley
Granadillo De Luque, Jorge Luis
Wegner, Daniel J.
Cogne, Benjamin
Gilbert-Dussardier, Brigitte
Le Guillou, Xavier
Wagner, Eric J.
Pais, Lynn S.
Neil, Jennifer E.
Mochida, Ganeshwaran H.
Walsh, Christopher A.
Magal, Nurit
Drasinover, Valerie
Shohat, Mordechai
Schwab, Tanya
Schmitz, Chris
Clark, Karl
Fine, Anthony
Lanpher, Brendan
Gavrilova, Ralitza
Blanc, Pierre
Burglen, Lydie
Afenjar, Alexandra
Steel, Dora
Kurian, Manju A.
Prabhakar, Prab
Gößwein, Sophie
Di Donato, Nataliya
Bertini, Enrico S.
Tartaglia, Marco
Klee, Eric W.
DB Label
Database : ScienceDirect
원문보기
Full Text (ScienceDirect O/A)  등재 - SCOPUS  조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE) 
10
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish 미리보기

학술저널

issue
In Genetics in Medicine October 2021 23(10):1933-1943
Author
Lin, Sheng-Jia
Vona, Barbara
Barbalho, Patricia G.
Kaiyrzhanov, Rauan
Maroofian, Reza
Petree, Cassidy
Severino, Mariasavina
Stanley, Valentina
Varshney, Pratishtha
Bahena, Paulina
Alzahrani, Fatema
Alhashem, Amal
Pagnamenta, Alistair T.
Aubertin, Gudrun
Estrada-Veras, Juvianee I.
Hernández, Héctor Adrián Díaz
Mazaheri, Neda
Oza, Andrea
Thies, Jenny
Renaud, Deborah L.
Dugad, Sanmati
McEvoy, Jennifer
Sultan, Tipu
Pais, Lynn S.
Tabarki, Brahim
Villalobos-Ramirez, Daniel
Rad, Aboulfazl
Ambrose, J.C.
Arumugam, P.
Bleda, M.
Boardman-Pretty, F.
Boustred, C.R.
Brittain, H.
Caulfield, M.J.
Chan, G.C.
Fowler, T.
Giess, A.
Hamblin, A.
Henderson, S.
Hubbard, T.J.P.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Kousathanas, A.
Lahnstein, L.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
Maleady-Crowe, F.
Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A.C.
O‘Donovan, P.
Odhams, C.A.
Patch, C.
Perez-Gil, D.
Pereira, M.B.
Pullinger, J.
Rahim, T.
Rendon, A.
Rogers, T.
Savage, K.
Sawant, K.
Scott, R.H.
Siddiq, A.
Sieghart, A.
Smith, S.C.
Sosinsky, A.
Stuckey, A.
Tanguy, M.
Thomas, E.R.A.
Thompson, S.R.
Tucci, A.
Walsh, E.
Welland, M.J.
Williams, E.
Witkowska, K.
Wood, S.M.
Galehdari, Hamid
Ashrafzadeh, Farah
Sahebzamani, Afsaneh
Saeidi, Kolsoum
Torti, Erin
Elloumi, Houda Z.
Mora, Sara
Palculict, Timothy B.
Yang, Hui
Wren, Jonathan D.
Ben Fowler
Joshi, Manali
Behra, Martine
Burgess, Shawn M.
Nath, Swapan K.
Hanna, Michael G.
Kenna, Margaret
Merritt, J. Lawrence, II
Houlden, Henry
Karimiani, Ehsan Ghayoor
Zaki, Maha S.
Haaf, Thomas
Alkuraya, Fowzan S.
Gleeson, Joseph G.
Varshney, Gaurav K.
DB Label
Database : ScienceDirect
원문보기
Full Text (ScienceDirect O/A)  등재 - SCOPUS  조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  원문복사신청 - FRIC 
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