日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

ARID2相关疾病:进一步阐明27例新患者的临床表型并描述其表观遗传特征

Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A; McConkey, Haley; Mendelsohn, Bryce A; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial

在新生儿重症监护室(NICU)的试点试验中,基于基因组的新生儿筛查对严重儿童遗传疾病具有较高的阳性预测值和敏感性。

Kingsmore, Stephen F; Wright, Meredith; Olsen, Lauren; Schultz, Brandan; Protopsaltis, Liana; Averbuj, Dan; Blincow, Eric; Carroll, Jeanne; Caylor, Sara; Defay, Thomas; Ellsworth, Katarzyna; Feigenbaum, Annette; Gover, Mia; Guidugli, Lucia; Hansen, Christian; Van Der Kraan, Lucita; Kunard, Chris M; Kwon, Hugh; Madhavrao, Lakshminarasimha; Leipzig, Jeremy; Liang, Yupu; Mardach, Rebecca; Mowrey, William R; Nguyen, Hung; Niemi, Anna-Kaisa; Oh, Danny; Saad, Muhammed; Scharer, Gunter; Schleit, Jennifer; Mehtalia, Shyamal S; Sanford, Erica; Smith, Laurie D; Willis, Mary J; Wigby, Kristen; Reimers, Rebecca

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

通过基于纯化超选择的联邦训练,对基于基因组的新生儿筛查进行严重儿童遗传疾病的预认证

Kingsmore Stephen F, Wright Meredith, Smith Laurie D, Liang Yupu, Mowrey William R, Protopsaltis Liana, Bainbridge Matthew, Baker Mei, Batalov Sergey, Blincow Eric, Cao Bryant, Caylor Sara, Chambers Christina, Ellsworth Katarzyna, Feigenbaum Annette, Frise Erwin, Guidugli Lucia, Hall Kevin P, Hansen Christian, Kiel Mark, Van Der Kraan Lucita, Krilow Chad, Kwon Hugh, Madhavrao Lakshminarasimha, Lefebvre Sebastien, Leipzig Jeremy, Mardach Rebecca, Moore Barry, Oh Danny, Olsen Lauren, Ontiveros Eric, Owen Mallory J, Reimers Rebecca, Scharer Gunter, Schleit Jennifer, Shelnutt Seth, Mehtalia Shyamal S, Oriol Albert, Sanford Erica, Schwartz Steve, Wigby Kristen, Willis Mary J, Yandell Mark, Kunard Chris M, Defay Thomas

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

在超过5000名未经筛选的患者队列中,RPGR介导的视网膜营养不良的患病率

Tuupanen, Sari; Gall, Kimberly; Sistonen, Johanna; Saarinen, Inka; Kämpjärvi, Kati; Wells, Kirsty; Merkkiniemi, Katja; von Nandelstadh, Pernilla; Sarantaus, Laura; Känsäkoski, Johanna; Mårtenson, Emma; Västinsalo, Hanna; Schleit, Jennifer; Sankila, Eeva-Marja; Kere, Annakarin; Junnila, Heidi; Siivonen, Pauli; Andreevskaya, Margarita; Kytölä, Ville; Muona, Mikko; Salmenperä, Pertteli; Myllykangas, Samuel; Koskenvuo, Juha; Alastalo, Tero-Pekka

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

在1376例HCM患者异质性队列中,基因检测的诊断率

Hathaway, Julie; Heliö, Krista; Saarinen, Inka; Tallila, Jonna; Seppälä, Eija H; Tuupanen, Sari; Turpeinen, Hannu; Kangas-Kontio, Tiia; Schleit, Jennifer; Tommiska, Johanna; Kytölä, Ville; Valori, Miko; Muona, Mikko; Sistonen, Johanna; Gentile, Massimiliano; Salmenperä, Pertteli; Myllykangas, Samuel; Paananen, Jussi; Alastalo, Tero-Pekka; Heliö, Tiina; Koskenvuo, Juha

Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy

白喉酰胺缺乏症:一种新型人类发育障碍和核糖体病

Harmen Hawer #, Bryce A Mendelsohn #, Klaus Mayer, Ann Kung, Amit Malhotra, Sari Tuupanen, Jennifer Schleit, Ulrich Brinkmann, Raffael Schaffrath

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

利用基因组测序进行孕前携带者筛查:临床实验室的结果

Punj, Sumit; Akkari, Yassmine; Huang, Jennifer; Yang, Fei; Creason, Allison; Pak, Christine; Potter, Amiee; Dorschner, Michael O; Nickerson, Deborah A; Robertson, Peggy D; Jarvik, Gail P; Amendola, Laura M; Schleit, Jennifer; Simpson, Dana Kostiner; Rope, Alan F; Reiss, Jacob; Kauffman, Tia; Gilmore, Marian J; Himes, Patricia; Wilfond, Benjamin; Goddard, Katrina A B; Richards, C Sue

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

巴西一家患有早衰症特征和复发性骨折的 CTC1 突变患者

Forough Sargolzaeiaval, Jiaming Zhang, Jennifer Schleit, Davor Lessel, Christian Kubisch, Debora R Precioso, David Sillence, Fuki M Hisama, Michael Dorschner, George M Martin, Junko Oshima

Transcription errors induce proteotoxic stress and shorten cellular lifespan

转录错误会引起蛋白质毒性应激并缩短细胞寿命

Marc Vermulst, Ashley S Denney, Michael J Lang, Chao-Wei Hung, Stephanie Moore, M Arthur Moseley, J Will Thompson, Victoria Madden, Jacob Gauer, Katie J Wolfe, Daniel W Summers, Jennifer Schleit, George L Sutphin, Suraiya Haroon, Agnes Holczbauer, Joanne Caine, James Jorgenson, Douglas Cyr, Matt Kae

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

6503 名参与者中可操作的外显子组意外发现:变异分类的挑战

Amendola, Laura M; Dorschner, Michael O; Robertson, Peggy D; Salama, Joseph S; Hart, Ragan; Shirts, Brian H; Murray, Mitzi L; Tokita, Mari J; Gallego, Carlos J; Kim, Daniel Seung; Bennett, James T; Crosslin, David R; Ranchalis, Jane; Jones, Kelly L; Rosenthal, Elisabeth A; Jarvik, Ella R; Itsara, Andy; Turner, Emily H; Herman, Daniel S; Schleit, Jennifer; Burt, Amber; Jamal, Seema M; Abrudan, Jenica L; Johnson, Andrew D; Conlin, Laura K; Dulik, Matthew C; Santani, Avni; Metterville, Danielle R; Kelly, Melissa; Foreman, Ann Katherine M; Lee, Kristy; Taylor, Kent D; Guo, Xiuqing; Crooks, Kristy; Kiedrowski, Lesli A; Raffel, Leslie J; Gordon, Ora; Machini, Kalotina; Desnick, Robert J; Biesecker, Leslie G; Lubitz, Steven A; Mulchandani, Surabhi; Cooper, Greg M; Joffe, Steven; Richards, C Sue; Yang, Yaoping; Rotter, Jerome I; Rich, Stephen S; O'Donnell, Christopher J; Berg, Jonathan S; Spinner, Nancy B; Evans, James P; Fullerton, Stephanie M; Leppig, Kathleen A; Bennett, Robin L; Bird, Thomas; Sybert, Virginia P; Grady, William M; Tabor, Holly K; Kim, Jerry H; Bamshad, Michael J; Wilfond, Benjamin; Motulsky, Arno G; Scott, C Ronald; Pritchard, Colin C; Walsh, Tom D; Burke, Wylie; Raskind, Wendy H; Byers, Peter; Hisama, Fuki M; Rehm, Heidi; Nickerson, Debbie A; Jarvik, Gail P