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전체선택

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

학술저널

issue: European Journal of Human Genetics. 32(2):190-199
Author: Husson, Thomas^{Aff1, Aff2}
Lecoquierre, François
Nicolas, Gaël
Richard, Anne-Claire
Afenjar, Alexandra
Audebert-Bellanger, Séverine
Badens, Catherine
Bilan, Frédéric
Bizaoui, Varoona
Boland, Anne
Bonnet-Dupeyron, Marie-Noëlle
Brischoux-Boucher, Elise
Bonnet, Céline^{Aff12, Aff13}
Bournez, Marie
Boute, Odile
Brunelle, Perrine
Caumes, Roseline
Charles, Perrine
Chassaing, Nicolas
Chatron, Nicolas^{Aff19, Aff20}
Cogné, Benjamin^{Aff21, Aff22}
Colin, Estelle
Cormier-Daire, Valérie^{Aff24, Aff25}
Dard, Rodolphe
Dauriat, Benjamin
Delanne, Julian^{Aff28, Aff29}
Deleuze, Jean-François
Demurger, Florence
Denommé-Pichon, Anne-Sophie^{Aff29, Aff31}
Depienne, Christel
Dieux, Anne
Dubourg, Christèle^{Aff33, Aff34}
Edery, Patrick^{Aff19, Aff35}
El Chehadeh, Salima^{Aff36, Aff37, Aff38}
Faivre, Laurence^{Aff28, Aff29}
Fergelot, Patricia
Fradin, Mélanie
Garde, Aurore^{Aff28, Aff29}
Geneviève, David^{Aff41, Aff42}
Gilbert-Dussardier, Brigitte
Goizet, Cyril^{Aff44, Aff45}
Goldenberg, Alice
Gouy, Evan^{Aff19, Aff46}
Guerrot, Anne-Marie
Guimier, Anne
Harzalla, Inès
Héron, Delphine
Isidor, Bertrand^{Aff21, Aff22}
Lacombe, Didier
Le Guillou Horn, Xavier^{Aff50, Aff51}
Keren, Boris
Kuechler, Alma
Lacaze, Elodie
Lavillaureix, Alinoë
Lehalle, Daphné
Lesca, Gaëtan
Lespinasse, James
Levy, Jonathan
Lyonnet, Stanislas^{Aff57, Aff58}
Morel, Godeliève
Jean-Marçais, Nolwenn
Marlin, Sandrine
Marsili, Luisa
Mignot, Cyril
Nambot, Sophie
Nizon, Mathilde^{Aff21, Aff22}
Olaso, Robert
Pasquier, Laurent
Perrin, Laurine
Petit, Florence^{Aff15, Aff16}
Pingault, Veronique^{Aff61, Aff62}
Piton, Amélie
Prieur, Fabienne
Putoux, Audrey^{Aff19, Aff35}
Planes, Marc
Odent, Sylvie
Quélin, Chloé
Quemener-Redon, Sylvia^{Aff5, Aff64, Aff65}
Rama, Mélanie
Rio, Marlène
Rossi, Massimiliano^{Aff19, Aff35}
Schaefer, Elise
Rondeau, Sophie
Saugier-Veber, Pascale
Smol, Thomas^{Aff16, Aff66}
Sigaudy, Sabine
Touraine, Renaud
Mau-Them, Frederic Tran^{Aff29, Aff31}
Trimouille, Aurélien^{Aff69, Aff70}
Van Gils, Julien
Vanlerberghe, Clémence
Vantalon, Valérie
Vera, Gabriella
Vincent, Marie^{Aff21, Aff22}
Ziegler, Alban
Guillin, Olivier
Campion, Dominique
Charbonnier, Camille^{Aff72, IDs4143102301474x_cor98}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE)

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

학술저널

issue: In The American Journal of Human Genetics 2 November 2023 110(11):1959-1975
Author: Mah-Som, Annelise Y.
Daw, Jil
Huynh, Diana
Wu, Mengcheng
Creekmore, Benjamin C.
Burns, William
Skinner, Steven A.
Holla, Øystein L.
Smeland, Marie F.
Planes, Marc
Uguen, Kevin
Redon, Sylvia
Bierhals, Tatjana
Scholz, Tasja
Denecke, Jonas
Mensah, Martin A.
Sczakiel, Henrike L.
Tichy, Heidelis
Verheyen, Sarah
Blatterer, Jasmin
Schreiner, Elisabeth
Thies, Jenny
Lam, Christina
Spaeth, Christine G.
Pena, Loren
Ramsey, Keri
Narayanan, Vinodh
Seaver, Laurie H.
Rodriguez, Diana
Afenjar, Alexandra
Burglen, Lydie
Lee, Edward B.
Chou, Tsui-Fen
Weihl, Conrad C.
Shinawi, Marwan S.
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect O/A) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE)

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

학술저널

issue: In The American Journal of Human Genetics 2 November 2023 110(11):1919-1937
Author: Nil, Zelha
Deshwar, Ashish R.
Huang, Yan
Barish, Scott
Zhang, Xi
Choufani, Sanaa
Le Quesne Stabej, Polona
Hayes, Ian
Yap, Patrick
Haldeman-Englert, Chad
Wilson, Carolyn
Prescott, Trine
Tveten, Kristian
Vøllo, Arve
Haynes, Devon
Wheeler, Patricia G.
Zon, Jessica
Cytrynbaum, Cheryl
Jobling, Rebekah
Blyth, Moira
Banka, Siddharth
Afenjar, Alexandra
Mignot, Cyril
Robin-Renaldo, Florence
Keren, Boris
Kanca, Oguz
Mao, Xiao
Wegner, Daniel J.
Sisco, Kathleen
Shinawi, Marwan
Wangler, Michael F.
Weksberg, Rosanna
Yamamoto, Shinya
Costain, Gregory
Bellen, Hugo J.
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect O/A) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE)

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

학술저널

issue: Genome medicine. 13(1)
Author: Gillentine, Madelyn A
Wang, Tianyun
Hoekzema, Kendra
Rosenfeld, Jill
Liu, Pengfei
Guo, Hui
Kim, Chang N
De Vries, Bert BA
Vissers, Lisenka ELM
Nordenskjold, Magnus
Kvarnung, Malin
Lindstrand, Anna
Nordgren, Ann
Gecz, Jozef
Iascone, Maria
Cereda, Anna
Scatigno, Agnese
Maitz, Silvia
Zanni, Ginevra
Bertini, Enrico
Zweier, Christiane
Schuhmann, Sarah
Wiesener, Antje
Pepper, Micah
Panjwani, Heena
Torti, Erin
Abid, Farida
Anselm, Irina
Srivastava, Siddharth
Atwal, Paldeep
Bacino, Carlos A
Bhat, Gifty
Cobian, Katherine
Bird, Lynne M
Friedman, Jennifer
Wright, Meredith S
Callewaert, Bert
Petit, Florence
Mathieu, Sophie
Afenjar, Alexandra
Christensen, Celenie K
White, Kerry M
Elpeleg, Orly
Berger, Itai
Espineli, Edward J
Fagerberg, Christina
Brasch-Andersen, Charlotte
Hansen, Lars Kjærsgaard
Feyma, Timothy
Hughes, Susan
Thiffault, Isabelle
Sullivan, Bonnie
Yan, Shuang
Keller, Kory
Keren, Boris
Mignot, Cyril
Kooy, Frank
Meuwissen, Marije
Basinger, Alice
Kukolich, Mary
Philips, Meredith
Ortega, Lucia
Drummond-Borg, Margaret
Lauridsen, Mathilde
Sorensen, Kristina
Lehman, Anna
CAUSES Study
Lopez-Rangel, Elena
Levy, Paul
Lessel, Davor
Lotze, Timothy
Madan-Khetarpal, Suneeta
Sebastian, Jessica
Vento, Jodie
Vats, Divya
Benman, L Manace
Mckee, Shane
Mirzaa, Ghayda M
Muss, Candace
Pappas, John
Peeters, Hilde
Romano, Corrado
Elia, Maurizio
Galesi, Ornella
Simon, Marleen EH
van Gassen, Koen LI
Simpson, Kara
Stratton, Robert
Syed, Sabeen
Thevenon, Julien
Palafoll, Irene Valenzuela
Vitobello, Antonio
Bournez, Marie
Faivre, Laurence
Xia, Kun
SPARK Consortium
Earl, Rachel K
Nowakowski, Tomasz
Bernier, Raphael A
Eichler, Evan E
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

OXR1 maintains the retromer to delay brain aging under dietary restriction

학술저널

issue: Nature Communications. 15(1)
Author: Wilson, Kenneth A.^{Aff1, Aff2}
Bar, Sudipta
Dammer, Eric B.
Carrera, Enrique M.
Hodge, Brian A.
Hilsabeck, Tyler A. U.^{Aff1, Aff2}
Bons, Joanna
Brownridge, III, George W.
Beck, Jennifer N.
Rose, Jacob
Granath-Panelo, Melia
Nelson, Christopher S.
Qi, Grace
Gerencser, Akos A.
Lan, Jianfeng^{Aff1, Aff4}
Afenjar, Alexandra^{Aff5, Aff6}
Chawla, Geetanjali
Brem, Rachel B.^{Aff1, Aff2, Aff8}
Campeau, Philippe M.
Bellen, Hugo J.
Schilling, Birgit
Seyfried, Nicholas T.
Ellerby, Lisa M.^{Aff1, Aff2, IDs41467023443433_cor23}
Kapahi, Pankaj^{Aff1, Aff2, IDs41467023443433_cor24}
DB Label: Database : Springer Nature Journals

원문보기: OA (Springer) OA (Nature) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

학술저널