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

A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements

先天性镜像运动患者候选基因RBM15中发现新生移码变异

Harms, Frederike L; Kortüm, Fanny; Alawi, Malik; Staudt, Martin; Kutsche, Kerstin

A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs

NOP58基因的纯合同义变异会损害前体核糖体RNA的成熟,从而导致神经发育障碍。

Bonde, Loisa D; Holling, Tess; Alawi, Malik; El Beheiry, Ahmed A; Mir Hassani, Zabih; Bachand, François; Abdelrazek, Ibrahim M; Kutsche, Kerstin

Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss.

保守的核糖体蛋白伴侣基因 PDCD2 的双等位基因变异与胎儿水肿和早期妊娠丢失有关

Landry-Voyer Anne-Marie, Holling Tess, Mis Emily K, Mir Hassani Zabih, Alawi Malik, Ji Weizhen, Jeffries Lauren, Kutsche Kerstin, Bachand François, Lakhani Saquib A

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes

新型双等位基因COL25A1变异体拓宽了临床表现谱,从先天性颅神经支配障碍到胎儿致死表型。

Harms, Frederike L; Müller, Christian; Kortüm, Fanny; Hempel, Maja; Alawi, Malik; Zaki, Maha S; Elhossini, Rasha M; Abdel-Hamid, Mohamed S; AlAbdi, Lama; Alkuraya, Fowzan S; Kurdi, Wesam; Celse, Tristan; Spodenkiewicz, Marta; Laurens, Tiphany; Dieterich, Klaus; Jagadeesh, Sujatha; Salvankar, Sandesh; Girisha, Katta M; Kutsche, Kerstin

Exploring Tetraselmis chui microbiomes-functional metagenomics for novel catalases and superoxide dismutases.

探索四鞭藻微生物组——功能宏基因组学中的新型过氧化氢酶和超氧化物歧化酶

Macdonald Jascha F H, Han Yuchen, Astafyeva Yekaterina, Bergmann Lutgardis, Gurschke Marno, Dirksen Philipp, Blümke Patrick, Schneider Yannik K H, Alawi Malik, Lippemeier Sebastian, Andersen Jeanette H, Krohn Ines

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation

EIF3K纯合变异与神经发育迟缓、小头畸形和生长迟缓相关

McGivern, Bobbi; Holling, Tess; Guillen Sacoto, Maria J; Gudbjartsson, Hákon; Abdelrazek, Ibrahim M; Alawi, Malik; Bai, Yan; Bodamer, Olaf; Crunk, Amy; Dameron, Amy E; Dyer, Lisa M; Henderson, Lindsay B; Irons, Mira; Kutsche, Kerstin; McGowan, Caroline; Monaghan, Kristin G; O'Connor, Kaitlyn; Rashid, Asma; Redlich, Olivia L; Reich, Adi; Simotas, Christopher; Welner, Sara; Wentzensen, Ingrid M

Identification of AAV variants with improved transduction of human vascular endothelial cells by screening AAV capsid libraries in non-human primates

通过在非人灵长类动物中筛选AAV衣壳文库,鉴定出对人血管内皮细胞转导能力增强的AAV变体

Stamataki, Maria; Lüschow, Julia; Schlumbohm, Christina; Alawi, Malik; Lunding, Lars; Fuchs, Eberhard; Trepel, Martin; Schwaninger, Markus; Körbelin, Jakob

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection

影响纤毛形成的CDKL1变异体易导致胸主动脉瘤和夹层。

Nauth, Theresa; Philipp, Melanie; Renner, Sina; Burkhalter, Martin D; Schüler, Helke; Saygi, Ceren; Händler, Kristian; Siebels, Bente; Busch, Alice; Mair, Thomas; Rickassel, Verena; Deden, Sophia; Hoffer, Konstantin; Olfe, Jakob; Mir, Thomas S; von Kodolitsch, Yskert; Girdauskas, Evaldas; Rybczynski, Meike; Kriegs, Malte; Voß, Hannah; Sauvigny, Thomas; Spielmann, Malte; Alawi, Malik; Krasemann, Susanne; Kubisch, Christian; Demal, Till J; Rosenberger, Georg

Correction: Identification of AAV variants with improved transduction of human vascular endothelial cells by screening AAV capsid libraries in non-human primates

更正:通过在非人灵长类动物中筛选 AAV 衣壳文库,鉴定出对人血管内皮细胞具有改进转导能力的 AAV 变体

Stamataki, Maria; Lüschow, Julia; Schlumbohm, Christina; Alawi, Malik; Lunding, Lars; Fuchs, Eberhard; Trepel, Martin; Schwaninger, Markus; Körbelin, Jakob

IMMU-24. GLIOBLASTOMA ENRICHED GLYCOSPHINGOLIPIDS MODULATE THE FUNCTION OF HUMAN INKT CELLS

IMMU-24. 胶质母细胞瘤富含糖鞘脂,可调节人类INKT细胞的功能

Peng, Lei; Renauer, Paul A; Sferruzza, Giacomo; Yang, Luojia; Zou, Yongji; Fang, Zhenghao; Park, Jonathan J; Chow, Ryan D; Zhang, Yueqi; Lin, Qianqian; Bai, Meizhu; Sanchez, Angelica; Zhang, Yongzhan; Lam, Stanley Z; Ye, Lupeng; Chen, Sidi; To, Minh D; Sharma, Aanchal; Merchant, Nina; Liu, Jiali; Chamberlain, Christopher A; Morris, Yasmin; Anantharam, Varshaa; Sheraz, Shahida; Shah, Mansi; Mastrokalos, Gerasimos; Pollard, Steve; Thorne, Lewis; Brennan, Paul; Merchant, Fahar; Galvez-Cancino, Felipe; Quezada, Sergio A; Hoyt-Miggelbrink, Alexandra; Polania, Jessica Waibl; Mohan, Aditya; Wachsmuth, Lucas; Lorrey, Selena; Lerner, Emily; Wilkinson, Daniel; Hardigan, Andrew; Blandford, Emily; Hotchkiss, Kelly; Hemmers, Saskia; Quackenbush, Sarah Cook; Ayasoufi, Katayoun; Fecci, Peter; Wang, Anthony; Owens, Geoffrey; Pan, Yang; Kim, Wi-Jin; Sun, Matthew; Peeters, Sophie; Treger, Janet; Lee, Alexander; Armellini, Amber; Na, Brian; Everson, Richard; Daniels, David; Nathanson, David; Liau, Linda; Prins, Robert; Xing, Yi; Maire, Cecile; Mohme, Malte; Fita, Krystian; Reetz, Merle; Heinemann, Sarina; Tolosa, Eva; Alawi, Malik; Casar, Christian; Spohn, Michael; Gempt, Jens; Westphal, Manfred; Lamszus, Katrin; Frederico, Stephen; Raphael, Itay; Nisnboym, Michal; Huq, Sakibul; Shlegel, Brent; Sneiderman, Chaim; Jackson, Sydney; Jain, Anya; Rood, Brian; Pollack, Ian; Hwang, Eugene; Rajasundaram, Dhivyaa; Kohanbash, Gary; Gillard, Andrew; Shin, Dong Ho; Laspidea, Virginia; Singh, Sanjay; Jiang, Hong; Xuejun, Fan; Lopez-Rivas, Andres; Parthasarathy, Akhila; He, Jiasen; Garcia-Moure, Marc; Fueyo, Juan; Gomez-Manzano, Candelaria; Mohan, Aditya; Shen, Steven; Moelker, Eliese; Blandford, Emily; Hardigan, Andrew; Wilkinson, Daniel; Fecci, Peter; Sampson, John; Patel, Anoop; Markus, Lauren; Wen, Patrick; Sun, Lu; Hugo, Willy; Prins, Robert; Soballa, Melanie; Mastall, Maximilian; Villars, Danielle; Hänsch, Lena; Mayoux, Maud; Tugues, Sonia; Weller, Michael; Roth, Patrick; Heemskerk, Kyle; Assaf, Samir; Hao, Xiaguang; Meode, Mathieu; Kala, Smriti; Pemberton, James; Mirzaei, Reza; Cairncross, J Gregory; Forsyth, Peter; Yong, V Wee; Weiss, Samuel; Zemp, Franz; Artee Luchman, H; Green, George; Cox-Holmes, Alexis; Marlow, Gillian; Potier, Anna Claire; Wang, Yong; Zhou, Lianna; Chen, Dongquan; Morrow, Casey; McFarland, Braden; Kundu, Somanath; Mitra, Soham; Arivazhagan, Roshini; Longo, John; Longo, Sharon; Venskus, Abigail; Babu, Harish; Viapiano, Mariano; Coombs, Morgan; Dowdy, Tyrone; Alam, Md Masud; Khayrullina, Guzal; Joshi, Vibhuti; Keretsu, Seketoulie; Jung, Jinkyu; Hara, Ayaka; Steffke, Emily; Latifi, Laila; Kim, Hye; Spurgeon, Jo; Malik, Nargis; Hancock, John; Smith, Kelsey; Gumperz, Jenny; Larion, Mioara; Terabe, Masaki