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

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

通过新生儿筛查和下一代测序技术,在男性中发现了嵌合型 X 连锁肾上腺脑白质营养不良症。

Keefe, Alexandra C; Jensen, Dana M; Pham, Meranda M; Au, Natalie Y T; Beckman, Erika; Penon-Portmann, Monica; Shelkowitz, Emily; Bend, Renee; Morrow, Michelle M; Kruszka, Paul; Vats, Divya; Russell, Bianca E; Chan, Erica; Wong, Derek; Rabani, Ahna; O'Grady, Lauren; Sahai, Inderneel; Widmeyer, Kimberly; Sperry, Ethan D; Hallinan, Barbara E; Tryon, Rebecca; Lund, Troy C; Eichler, Florian S; Sun, Angela; Bennett, James T

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants

利用癌症突变数据来指导种系错义变异的致病性分类

Haque, Bushra; Cheerie, David; Pan, Amy; Curtis, Meredith; Nalpathamkalam, Thomas; Nguyen, Jimmy; Salhab, Celine; Thiruvahindrapuram, Bhooma; Zhang, Jade; Couse, Madeline; Hartley, Taila; Morrow, Michelle M; Price, E Magda; Walker, Susan; Malkin, David; Roth, Frederick P; Costain, Gregory

MGA-related syndrome: A proposed novel disorder

MGA相关综合征:一种新提出的疾病

McGivern, Bobbi; Morrow, Michelle M; Torti, Erin; McWalter, Kirsty; Wentzensen, Ingrid M; Monaghan, Kristin G; Gerard, Amanda; Robak, Laurie; Chitayat, David; Botsford, Claire; Jurgensmeyer, Sarah; Leahy, Peter; Kruszka, Paul

Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay

在患有多种先天性异常和发育迟缓的个体中,发现了ARHGEF40基因p.Arg225位点的错义变异

Napier, Melanie P; Ryan, Erin; Reich, Adi; Suhl, Joshua A; Masser-Frye, Diane; Jones, Marilyn; Beaudreau, Celese; Robin, Nathaniel; Goodloe, Dana; Folk, Leandra; Morrow, Michelle M; Carere, Deanna Alexis

Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies

鉴定出KCTD10基因中的新生变异可能是多种先天性异常的病因

Morrow, Michelle M; Torti, Erin; McGivern, Bobbi; Gates, Ryan; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Folk, Leandra; Holtrop, Shannon; Palculict, Timothy Blake; Redlich, Olivia L; Reich, Adi; Guillen Sacoto, Maria J; Shi, Lisong; Wentzensen, Ingrid M; McWalter, Kirsty

The tetravalent, bispecific properties of FS118, an anti-LAG-3/PD-L1 antibody, mediate LAG-3 shedding from CD4 + and CD8 + tumor-infiltrating lymphocytes.

FS118 是一种抗 LAG-3/PD-L1 抗体,其四价双特异性可介导 LAG-3 从 CD4 + 和 CD8 + 肿瘤浸润淋巴细胞中脱落

Reader Claire S, Liao Wenjia, Potter-Landua Beatrice J, Veyssier Christel Séguy, Seal Claire J, Brewis Neil, Morrow Michelle

“I’m worth saving”‐ a qualitative study of people with dementia considering treatment with lecanemab

“我值得被拯救”——一项针对考虑接受lecanemab治疗的痴呆症患者的定性研究

Argilli, Emanuela; Yang, Caleb; Le, Carolyn; Elashoff, Amanda M; Parks, Kendall C; Bakker, Clare; Skotko, Brian G; Pinnell, Nancy; Mahida, Sonal; Olson, Heather; Amburgey, Kimberly; Dowling, James J; Kalsner, Louisa; Rajan, Deepa S; Munro, Christine; Barnett, Christopher; Byrne, Alicia B; England, Eleina M; Aref-Eshghi, Erfan; Mullegama, Sureni V; Morrow, Michelle M; George, Elizabeth; Sherr, Elliott H; Thacker, Ayush; Parks, Anna L; Dohan, Daniel; Gomez, Liliana A Ramirez; Ritchie, Christine S; Paladino, Joanna; Shah, Sachin J

Jeffrey S Weber, MD, PhD (1952–2024): in memoriam to discovery, friendship and family

杰弗里·S·韦伯,医学博士、哲学博士(1952–2024):谨以此纪念他的发现、友谊和家人

Uemura, Marc; Fa'ak, Faisal; Haymaker, Cara; McQuail, Natalie; Sirmans, Elizabeth; Hudgens, Courtney W; Barbara, Lydia; Bernatchez, Chantale; Curry, Jonathan L; Hwu, Patrick; Tetzlaff, Michael T; Diab, Adi; Raber, Patrick; Thevenot, Paul; Sierra, Rosa; Rodriguez, Paulo C; Liang, Shu-Mei; Liang, Chi-Ming; Liao, Chiao-Chun; Katakkar, Suresh; Khalil, Danny; Merghoub, Taha; Wolchok, Jedd; Bantia, Shanta; Leyland, Rebecca; Watkins, Amanda; Bamber, Lisa; Tigue, Natalie; Young, Lesley; Morrow, Michelle; Hammond, Scott; Wilkinson, Robert; Stewart, Ross; Jung, Heiyoun; Bischof, Ashley; Ebsworth, Karen; Ertl, Linda; Schall, Thomas; Charo, Israel; Heninger, Erika; Krueger, Timothy; Johnson, Brian; Sperger, Jamie; Jarrard, David; Lang, Joshua; Moviglia, Gustavo A; Kleef, Ralf; Vujanovic, Lazar; Stahl, Elizabeth; Pardee, Angela; Watkins, Simon; Gibson, Gregory; Butterfield, Lisa H; Zhang, Wenjun; Hubbard, Antony; Jones, Tobin; Bhaumik, Srabani; Racolta, Adriana; Lefever, Mark; Garsha, Karl; Cummins, Nicholas; Ventura, Franklin; Tang, Lei; Jutric, Zeljka; Grendar, Jan; Cottam, Benjamin; Hammill, Chet; Wolf, Ronald; Hansen, Paul; Crittenden, Marka; Gough, Michael; Newell, Pippa; Pedersen, Sara R; Straten, Per Thor; Vandeveer, Amanda; Fallon, Jonathan; Tighe, Robert; Sabzevari, Helen; Schlom, Jeffrey; Greiner, John; Haque, Mohammad; Fino, Kristin; Song, Jianxun; Jazaeri, Amir; Paquette, Cherie; Kelting, Sarah M; Stoler, Mark H; Zhang, Qian; Yates, Melinda; Creasy, Caitlin; Bernatchez, Chantale; Hwu, Patrick; Terranova-Barberio, Manuela; Gennaro, Elena DI; Roca, Maria Serena; Budillon, Alfredo; Simeone, Ines; Hendrickx, Wouter; Miller, Lance; Bensmail, Halima; Wang, Ena; Marincola, Francesco; Ceccarelli, Michele; Bedognetti, Davide; Dolci, Sara; Domenici, Valentina; Vidili, Gianpaolo; Avitabile, Elisabetta; Orecchioni, Marco; Bianco, Alberto; Delogu, Lucia; Saeed, Mohamed; Efferth, Thomas; Kadioglu, Onat; Khalid, Hassan; Sugimoto, Yoshikazu; Vujanovic, Lazar; Stahl, Elizabeth; Butterfield, Lisa H; Klinke, David J; Godefroy, Emmanuelle; Bhardwaj, Nina; Melchiori, Luca; Kreutz, Martin; Williams, Daniel; Binder-Scholl, Gwendolyn; Kan, On; Moss, David; Jakobsen, Bent; Singh, Manisha; Khong, Hiep; Dai, Zhimin; Vasilakos, John P; Hwu, Patrick; Overwijk, Willem W; David, Justin; Hamilton, Duane; Schlom, Jeffrey; Palena, Claudia; Holmen Olofsson, Gitte; Idorn, Manja; Khan, Wajid; Andersen, Mads Hald; Moser, Bernhard; thor Straten, Per; Herrmann, Tara; Warren, Charlotte; O'Brien, Morgan; Forde, Patrick; Power, Derek; Soden, Declan; Hodo, Thomas; Thounaojam, Menaka; Shanker, Anil; Stewart, Ross; Poon, Edmund; Mullins, Stefanie; Watkins, Amanda; Smith, Paul D; Wilkinson, Robert W; Lee, Yunqin; Sunwoo, John; Pardee, Angela D; Shi, Jian; Butterfield, Lisa H; Concha-Benavente, Fernando; Ferris, Robert L; Gameiro, Sofia; Ardiani, Andressa; Kwilas, Anna R; Donahue, Renee N; Hodge, James W; Wallecha, Anu; Molli, Poonam; Yee, Cassian; Chapuis, Aude; Greenberg, Phil; Lai, Ivy; Thompson, John A; Margolin, Kim; Sheikhi, A; Saadati, K; Salmani, R; Mousavinasab, N; Sharma, P; Liu, Z; Papa, SB; Morris, J; Maher, J; Langroudi, L; Hasan, ZM; Soleimani, M; Hashemi, SMM; Idorn, M; Andersen, GH; Larsen, HL; van den Berg, JH; Met, Ö; thor Straten, P; Svane, I; Andersen, R; Donia, M; Gajewski, T; Schlenker, R; Leisegang, M; Uckert, W; Noessner, E; Dalgleish, A; Fowler, D; Gravett, A; Allen, R; Liu, W; Tawfeek, A; Thielemans, K; Neyns, B; Guo, Gang; Marrero, Luis; Ochoa, Augusto; Cui, Yan; Holmgaard, Rikke B; Zamarin, Dmitriy; Munn, David H; Wolchok, Jedd D; Allison, James P; Kumaresan, Pappanaicken; Manuri, Pallavi R; Albert, Nathaniel; Rabinovich, Brian; Olivares, Simon; Maiti, Sourindra N; Huls, Helen; Lee, Dean A; Kontoyiannis, Dimitrios; Cooper, Laurence J; Berk, Erik; Xu, Shuwen; Xu, Min; Terhune, Julia; Czerniecki, Brian; Huang, Xianming; Yin, Yi; Ye, Dan; Brekken, Rolf; Thorpe, Philip; Galetto, Roman; Lebuhotel, Céline; Poirot, Laurent; Schiffer-Mannioui, Cécile; Arnould, Sylvain; Smith, Julianne; Scharenberg, Andrew; Wong, Jeffrey L; Muthuswamy, Ravikumar; Bartlett, David L; Kalinski, Pawel; Hanada, Ken-ichi; Bagadia, Prachi; Wang, Qiong; Griffith, Kayla; Yang, James; Lu, Hailing; Yang, Yi; Groh, Veronika; Spies, Thomas; Dietsch, Gregory; Matthews, Maura; Disis, Mary L; Hershberg, Robert; Jensen, Simon S; Johansen, Pia T; Zucker, Daniel; Henriksen, Jonas; Andresen, Thomas; Barberis, Alcide; Maj, Roberto; Pourhassan, Houman; Wern, Jeanette; Gad, Monika; Rushworth, David; Mi, Tiejuan; Olivares, Simon; Carrero, Rosa Santana; Yang, Ge; Najjar, Amer; Cooper, Laurence; Elhadad, Sonia; Jochems, Caroline; Tucker, Jo A; Vergati, Matteo; Boyerinas, Benjamin; Gulley, James L; Schlom, Jeffrey; Tsang, Kwong-Yok; De Meyer, Micaël; Farine, Isabelle; Pichon, Christelle; Rooke, Ronald; Slos, Philippe; Mollik, Md Ariful Haque; Dubey, Seema; Gunewardena, Sumedha; Van Veldhuizen, Peter; Thrasher, J Brantley; Karan, Dev; Orentas, Rimas J; Lopomo, Paola; Babbitt, William; Vigny, Marc; Mackall, Crystal L; Kornbluth, Richard S; Spranger, Stefani; Gajewski, Thomas; Bonnafous, Cécile; Peri, Valentine; Trichard, Sylvia; Perrot, Ivan; Cornen, Stéphanie; Thielens, Ariane; Breso, Violette; Morel, Yannis; Rossi, Benjamin; Paturel, Carine; Gauthier, Laurent; Bléry, Mathieu; Luke, Jason John; Hamid, Omid; Fox, Bernard A; Ascierto, Paolo A; Osman, Iman; Mule, James J; Romero, Pedro J; Lotze, Michael T

Inferring disease course from differential exon usage in the wide titinopathy spectrum

通过肌联蛋白病谱系中外显子的差异使用来推断疾病进程

Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Gomez Andres, David; Brady, Angela F; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; Natera De Benito, Daniel; Nascimiento Osorio, Andres; Estévez Arias, Berta; Kurbatov, Sergei A; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Camacho Soriano, Jessica; Sanchez Duran, Maria Angeles; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco