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

Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes

QSER1中的剪接和移码变异可能与发育表型有关。

Fischer, Megan C; Reis, Linda M; Lenberg, Jerica; Friedman, Jennifer; Seese, Sarah E; Muheisen, Sanaa; Writzl, Karin; Golob, Barbara; Peterlin, Borut; Semina, Elena V

A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit

机器学习决策支持工具优化新生儿重症监护病房中全基因组测序(WGS)的使用

Juarez, Edwin F; Peterson, Bennet; Sanford Kobayashi, Erica; Gilmer, Sheldon; Tobin, Laura E; Schultz, Brandan; Lenberg, Jerica; Carroll, Jeanne; Bai-Tong, Shiyu; Sweeney, Nathaly M; Beebe, Curtis; Stewart, Lawrence; Olsen, Lauren; Reinke, Julie; Kiernan, Elizabeth A; Reimers, Rebecca; Wigby, Kristen; Tackaberry, Chris; Yandell, Mark; Hobbs, Charlotte; Bainbridge, Matthew N

Long-term follow-up of children who received rapid genomic sequencing

对接受快速基因组测序的儿童进行长期随访

Sanford Kobayashi, Erica; Tobin, Laura E; Arenchild, Madison; Benson, Wendy; Coufal, Nicole G; Juarez, Edwin F; Kingsmore, Stephen F; Knight, Jason; Lenberg, Jerica; Schwarz, Adam; Vargas-Shiraishi, Ofelia; Wigby, Kristen; Bainbridge, Matthew

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies

巩固突变型 ATP2B2 在神经发育和小脑病理学中的作用

Stehr, Antonia M; Lenberg, Jerica; Friedman, Jennifer; Dobbelaere, Dries; Imbard, Apolline; Levy, Jonathan; Donoghue, Sarah; Derive, Nicolas; Stoeva, Radka; Gueguen, Paul; Zech, Michael

Domain specific phenotypic expansion associated with variants in MACF1

MACF1基因变异相关的结构域特异性表型扩展

Gogate, Nikhita; Jolly, Angad; Rosenfeld, Jill A; Bahena-Carbajal, Paulina; Bernstein, Jonathan A; Bonner, Devon; Busa, Tiffany; Cristian, Ingrid; D'Souza, Precilla; Friedman, Jennifer; Gorokhova, Svetlana; Haaf, Thomas; Herman, Isabella; Isin, Ugur Ufuk; Jhangiani, Shalini N; Johnson, Ivy; Lenberg, Jerica; Macnamara, Ellen F; Maroofian, Reza; Redlich, Olivia L; Tifft, Cynthia; Tos, Tulay; Vona, Barbara; Zambrano, Regina M; Wentzensen, Ingrid M; Wigby, Kristen; Pehlivan, Davut; Gibbs, Richard A; Lupski, James R; Posey, Jennifer E

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations

常染色体隐性遗传VWA1相关疾病:表型变异和基因突变的综合分析

Nagy, Sara; Pagnamenta, Alistair T; Cali, Elisa; Braakman, Hilde M H; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D; Rossor, Alexander M; Uhrova Meszarosova, Anna; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M; Lamont, Phillipa J; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M; Kvalsund, Michelle; Kapapa, Musambo M; Wa Somwe, Somwe; Bearden, David R; Çakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M; Houlden, Henry; Maroofian, Reza

ARF1-related disorder: phenotypic and molecular spectrum

ARF1相关疾病:表型和分子谱

de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes

扩展NFS1相关疾病的表型和分子谱,这些疾病会导致线粒体和胞质含铁硫簇酶的功能缺陷

Yang, Jennifer H; Friederich, Marisa W; Ellsworth, Katarzyna A; Frederick, Aliya; Foreman, Emily; Malicki, Denise; Dimmock, David; Lenberg, Jerica; Prasad, Chitra; Yu, Andrea C; Anthony Rupar, C; Hegele, Robert A; Manickam, Kandamurugu; Koboldt, Daniel C; Crist, Erin; Choi, Samantha S; Farhan, Sali M K; Harvey, Helen; Sattar, Shifteh; Karp, Natalya; Wong, Terence; Haas, Richard; Van Hove, Johan L K; Wigby, Kristen

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

整合SOX4相关神经发育综合征的临床和遗传学定义

Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N; Ritter, Alyssa L; Leonard, Jacqueline M M; Savatt, Juliann M; Douglass, Kristen; Myers, Scott M; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C E; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andrew; Crunk, Amy; Tokita, Mari J; de Lange, Iris M; van Gassen, Koen; Robinson, Hannah; Guegan, Katie; Suri, Mohnish; Patel, Chirag; Bournez, Marie; Faivre, Laurence; Tran-Mau-Them, Frédéric; Baker, Janice; Fabie, Noelle; Weaver, K; Shillington, Amelle; Hopkin, Robert J; Barge-Schaapveld, Daniela Q C M; Ruivenkamp, Claudia Al; Bökenkamp, Regina; Vergano, Samantha; Seco Moro, Maria Noelia; Díaz de Bustamante, Aranzazu; Misra, Vinod K; Kennelly, Kelly; Rogers, Caleb; Friedman, Jennifer; Wigby, Kristen M; Lenberg, Jerica; Graziano, Claudio; Ahrens-Nicklas, Rebecca C; Lefebvre, Veronique

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

基于快速测序的硫胺素代谢功能障碍综合征诊断

Owen, Mallory J; Niemi, Anna-Kaisa; Dimmock, David P; Speziale, Mark; Nespeca, Mark; Chau, Kevin K; Van Der Kraan, Luca; Wright, Meredith S; Hansen, Christian; Veeraraghavan, Narayanan; Ding, Yan; Lenberg, Jerica; Chowdhury, Shimul; Hobbs, Charlotte A; Batalov, Sergey; Zhu, Zhanyang; Nahas, Shareef A; Gilmer, Sheldon; Knight, Gail; Lefebvre, Sebastien; Reynders, John; Defay, Thomas; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lajoie, Bryan R; McPhail, Tim K; Mehtalia, Shyamal S; Kunard, Chris M; Hall, Kevin P; Kingsmore, Stephen F