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

Feasibility of functional precision medicine for guiding treatment of relapsed or refractory pediatric cancers

功能精准医疗指导复发或难治性儿童癌症治疗的可行性

Arlet M Acanda De La Rocha #, Noah E Berlow #, Maggie Fader, Ebony R Coats, Cima Saghira, Paula S Espinal, Jeanette Galano, Ziad Khatib, Haneen Abdella, Ossama M Maher, Yana Vorontsova, Cristina M Andrade-Feraud, Aimee Daccache, Alexa Jacome, Victoria Reis, Baylee Holcomb, Yasmin Ghurani, Lilliam Ri

Influence of autozygosity on common disease risk across the phenotypic spectrum

纯合性对表型谱系中常见疾病风险的影响

Malawsky, Daniel S; van Walree, Eva; Jacobs, Benjamin M; Heng, Teng Hiang; Huang, Qin Qin; Sabir, Ataf H; Rahman, Saadia; Sharif, Saghira Malik; Khan, Ahsan; Mirkov, Maša Umićević; Kuwahara, Hiroyuki; Gao, Xin; Alkuraya, Fowzan S; Posthuma, Danielle; Newman, William G; Griffiths, Christopher J; Mathur, Rohini; van Heel, David A; Finer, Sarah; O'Connell, Jared; Martin, Hilary C

Translesion DNA synthesis-driven mutagenesis in very early embryogenesis of fast cleaving embryos

快速分裂胚胎的早期胚胎发生中跨损伤 DNA 合成驱动的诱变

Elena Lo Furno, Isabelle Busseau, Antoine Aze, Claudio Lorenzi, Cima Saghira, Matt C Danzi, Stephan Zuchner, Domenico Maiorano

Fine-scale population structure and demographic history of British Pakistanis

英国巴基斯坦人的精细人口结构和人口历史

Arciero, Elena; Dogra, Sufyan A; Malawsky, Daniel S; Mezzavilla, Massimo; Tsismentzoglou, Theofanis; Huang, Qin Qin; Hunt, Karen A; Mason, Dan; Sharif, Saghira Malik; van Heel, David A; Sheridan, Eamonn; Wright, John; Small, Neil; Carmi, Shai; Iles, Mark M; Martin, Hilary C

Clinical Utility of Functional Precision Medicine in the Management of Recurrent/Relapsed Childhood Rhabdomyosarcoma

功能精准医学在复发性/再发性儿童横纹肌肉瘤治疗中的临床应用

Acanda De La Rocha, Arlet M; Fader, Maggie; Coats, Ebony R; Espinal, Paula S; Berrios, Vanessa; Saghira, Cima; Sotto, Ileana; Shakya, Rojesh; Janvier, Michelin; Khatib, Ziad; Abdella, Haneen; Bittle, Mathew; Andrade-Feraud, Cristina M; Guilarte, Tomás R; McCafferty-Fernandez, Jennifer; Salyakina, Daria; Azzam, Diana J

Prot2HG: a database of protein domains mapped to the human genome

Prot2HG:一个将蛋白质结构域映射到人类基因组的数据库

Stanek, David; Bis-Brewer, Dana M; Saghira, Cima; Danzi, Matt C; Seeman, Pavel; Lassuthova, Petra; Zuchner, Stephan

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

ATP1A1基因突变导致显性夏科-马里-图斯病2型

Lassuthova, Petra; Rebelo, Adriana P; Ravenscroft, Gianina; Lamont, Phillipa J; Davis, Mark R; Manganelli, Fiore; Feely, Shawna M; Bacon, Chelsea; Brožková, Dana Šafka; Haberlova, Jana; Mazanec, Radim; Tao, Feifei; Saghira, Cima; Abreu, Lisa; Courel, Steve; Powell, Eric; Buglo, Elena; Bis, Dana M; Baxter, Megan F; Ong, Royston W; Marns, Lorna; Lee, Yi-Chung; Bai, Yunhong; Isom, Daniel G; Barro-Soria, René; Chung, Ki W; Scherer, Steven S; Larsson, H Peter; Laing, Nigel G; Choi, Byung-Ok; Seeman, Pavel; Shy, Michael E; Santoro, Lucio; Zuchner, Stephan

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

人类运动神经元轴突转录组富含与线粒体功能和微管介导的轴突运输相关的转录本。

Maciel, Renata; Bis, Dana M; Rebelo, Adriana P; Saghira, Cima; Züchner, Stephan; Saporta, Mario A

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser

在社区驱动的遗传性神经病变异浏览器中进行变异致病性评估

Saghira, Cima; Bis, Dana M; Stanek, David; Strickland, Alleene; Herrmann, David N; Reilly, Mary M; Scherer, Steven S; Shy, Michael E; Züchner, Stephan

Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

梅克尔-格鲁伯综合征:诊断、临床治疗和研究进展的最新进展

Hartill, Verity; Szymanska, Katarzyna; Sharif, Saghira Malik; Wheway, Gabrielle; Johnson, Colin A