logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
R

Ruslan Al-Ali

centogene gmbh, rostock, germany
H指数:10
被引数:824

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱：剪接位点变异的重要性

Movement Disorders
IF7.6
2025-11-070
OAAI
Ana Westenberger; Edgard Verdura; Mandy Radefeldt; Leslie E. Sanderson; Kornelia Tripolszki; Anna Marcé-Grau; Ana Cazurro-Gutiérrez; Anita Nikoncuk; Rebecca Herzog; Ruslan Al-Ali; Mariana Ferreira; Ligia S. Almeida; Tainá Regina Damaceno Silveira; Suliman Khan; Raphael Doyle Maia; Péter Klivényi; András Salamon; Volkan Baltaci; Asli Subasioglu; Jeanette Prada-Arismendy; Goran Čuturilo; Sebastian Loens; Vera Tadic; Isabelle Maystadt; Deniz Karadurmus; Barbara Leube; Jonathan De Winter; Alice Monticelli; Liesbeth De Waele; Jonathan Baets; Mateja Vinkšel; Aleš Maver; Lorena Tschopp; Gabriela Ziegler; Ana Sanguinetti; Katja Lohmann; Tahsin Stefan Barakat; Peter Bauer; Belén Perez-Dueñas; Aida M. Bertoli-Avella
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease
SCIENCE ADVANCES
IF12.5
2024-09-130
OAAI
Molitor, Anne; Lederle, Alexandre; Radosavljevic, Mirjana; Sapuru, Vinay; Zavorka Thomas, Megan E.; Yang, Jianying; Shirin, Mahsa; Collin-Bund, Virginie; Jerabkova-Roda, Katerina; Miao, Zhichao; Bernard, Alice; Rolli, Veronique; Grenot, Pierre; Castro, Carla Noemi; Rosenzwajg, Michelle; Lewis, Elyssa G.; Person, Richard; Esperon-Moldes, Uxia-Saraiva; Kaare, Milja; Nokelainen, Pekka T.; Batzir, Nurit Assia; Hoffer, Gal Zaks; Paul, Nicodeme; Stemmelen, Tristan; Naegely, Lydie; Hanauer, Antoine; Bibi-Triki, Sabrina; Gruen, Sarah; Jung, Sophie; Busnelli, Ignacio; Tripolszki, Kornelia; Al-Ali, Ruslan; Ordonez, Natalia; Bauer, Peter; Song, Eunkyung; Zajo, Kristin; Partida-Sanchez, Santiago; Robledo-Avila, Frank; Kumanovics, Attila; Louzoun, Yoram; Hirschler, Aurelie; Pichot, Angelique; Toker, Ori; Mejia, Cesar Andres Munoz; Parvaneh, Nima; Knapp, Esther; Hersh, Joseph H.; Kenney, Heather; Delmonte, Ottavia M.; Notarangelo, Luigi D.; Goetz, Jacky G.; Kahwash, Samir B.; Carapito, Christine; Bajwa, Rajinder P. S.; Thomas, Caroline; Ehl, Stephan; Isidor, Bertrand; Carapito, Raphael; Abraham, Roshini S.; Hite, Richard K.; Marcus, Nufar; Bertoli-Avella, Aida; Bahram, Seiamak
A founder DBR1 variant causes a lethal form of congenital ichthyosis
HUMAN GENETICS
IF3.6
2023-09-014
PRE
Shamseldin, Hanan E.; Sadagopan, Mukunth; Martini, Javier; Al-Ali, Ruslan; Radefeldt, Mandy; Ataei, Mojgan; Lemke, Sabrina; Rahbeeni, Zuhair; Al Mutairi, Fuad; Ababneh, Faroug; Alrukban, Hadeel A.; Abdulwahab, Firdous; Alhajj, Saleh Mohammed; Bauer, Peter; Bertoli-Avella, Aida; Alkuraya, Fowzan S.
Immune dysregulation caused by homozygous mutations in CBLB
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2022-10-177
OAAI
Janssen, Erin; Peters, Zachary; Alosaimi, Mohammed F.; Smith, Emma; Milin, Elena; Stafstrom, Kelsey; Wallace, Jacqueline G.; Platt, Craig D.; Chou, Janet; El Ansari, Yasmeen S.; Al Farsi, Tariq; Ameziane, Najim; Al-Ali, Ruslan; Calvo, Maria; Rocha, Maria Eugenia; Bauer, Peter; Al-Sannaa, Nouriya Abbas; Al Sukaiti, Nashat Faud; Alangari, Abdullah A.; Bertoli-Avella, Aida M.; Geha, Raif S.
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies
BIOLOGICAL PSYCHIATRY
IF9
2022-08-0115
OAAI
Al-Amri, Ahmed H.; Armstrong, Paul; Amici, Mascia; Ligneul, Clemence; Rouse, James; El-Asrag, Mohammed E.; Pantiru, Andreea; Vancollie, Valerie E.; Ng, Hannah W. Y.; Ogbeta, Jennifer A.; Goodchild, Kirstie; Ellegood, Jacob; Lelliott, Christopher J.; Mullins, Jonathan G. L.; Bretman, Amanda; Al-Ali, Ruslan; Beetz, Christian; Al-Gazali, Lihadh; Al Shamsi, Aisha; Lerch, Jason P.; Mellor, Jack R.; Al Sayegh, Abeer; Ali, Manir; Inglehearn, Chris F.; Clapcote, Steven J.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
JOURNAL OF MEDICAL GENETICS
IF3.7
2021-12-246
OAAI
Bertoli-Avella, Aida; Hotakainen, Ronja; Al Shehhi, Maryam; Urzi, Alice; Pareira, Catarina; Marais, Anett; Al Shidhani, Khoula; Aloraimi, Sumaya; Morales-Torres, Galina; Fisher, Steffen; Demuth, Laura; Selim, Laila Abdel Moteleb; Al Menabawy, Nihal; Busehail, Maryam; AlShaikh, Mohammed; Gilani, Naser; Chalabi, Dler Nooruldeen; Alharbi, Nasser S.; Alfadhel, Majid; Abdelrahman, Mohammed; Venselaar, Hanka; Anjum, Nadeem; Saeed, Anjum; Alghamdi, Malak Ali; Aljaedi, Hamad; Arabi, Hisham; Karageorgou, Vasiliki; Khan, Suliman; Hajjari, Zahra; Radefeldt, Mandy; Al-Ali, Ruslan; Tripolszki, Kornelia; Jamhawi, Amer; Paknia, Omid; Cozma, Claudia; Cheema, Huma; Ameziane, Najim; Al-Muhsen, Saleh; Bauer, Peter
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders
GENETICS IN MEDICINE
IF6.2
2021-08-0137
OAAI
Bertoli-Avella, Aida M.; Kandaswamy, Krishna K.; Khan, Suliman; Ordonez-Herrera, Natalia; Tripolszki, Kornelia; Beetz, Christian; Rocha, Maria Eugenia; Urzi, Alize; Hotakainen, Ronja; Leubauer, Anika; Al-Ali, Ruslan; Karageorgou, Vasiliki; Moldovan, Oana; Dias, Patricia; Alhashem, Amal; Tabarki, Brahim; Albalwi, Mohammed A.; Alswaid, Abdulrahman Faiz; Al-Hassnan, Zuhair N.; Alghamdi, Malak Ali; Hadipour, Zahra; Hadipour, Fatemeh; Al Hashmi, Nadia; Al-Gazali, Lihadh; Cheema, Huma; Zaki, Maha S.; Huning, Irina; Alfares, Ahmed; Eyaid, Wafaa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan S.; Al-Sannaa, Nouriya Abbas; AlShamsi, Aisha M.; Ameziane, Najim; Rolfs, Arndt; Bauer, Peter
Suppression of antitumor T cell immunity by the oncometabolite (R)-2-hydroxyglutarate

癌代谢物 (R)-2-羟基戊二酸酯抑制抗肿瘤T细胞免疫

NATURE MEDICINE
IF50
2018-07-09391
PREAI
Bunse, Lukas; Pusch, Stefan; Bunse, Theresa; Sahm, Felix; Sanghvi, Khwab; Friedrich, Mirco; Alansary, Dalia; Sonner, Jana K.; Green, Edward; Deumelandt, Katrin; Kilian, Michael; Neftel, Cyril; Uhlig, Stefanie; Kessler, Tobias; von Landenberg, Anna; Berghoff, Anna S.; Marsh, Kelly; Steadman, Mya; Zhu, Dongwei; Nicolay, Brandon; Wiestler, Benedikt; Breckwoldt, Michael O.; Al-Ali, Ruslan; Karcher-Bausch, Simone; Bozza, Matthias; Oezen, Iris; Kramer, Magdalena; Meyer, Jochen; Habel, Antje; Eisel, Jessica; Poschet, Gernot; Weller, Michael; Preusser, Matthias; Nadji-Ohl, Minou; Thon, Niklas; Burger, Michael C.; Harter, Patrick N.; Ratliff, Miriam; Harbottle, Richard; Benner, Axel; Schrimpf, Daniel; Okun, Jurgen; Herold-Mende, Christel; Turcan, Sevin; Kaulfuss, Stefan; Hess-Stumpp, Holger; Bieback, Karen; Cahill, Daniel P.; Plate, Karl H.; Haenggi, Daniel; Dorsch, Marion; Suva, Mario L.; Niemeyer, Barbara A.; von Deimling, Andreas; Wick, Wolfgang; Platten, Michael

研究方向

暂未获取到该数据
P
Peter Bauer
H 指数:65论文数:483被引数:2.1万
A
Aida M. Bertoli‐Avella
H 指数:39论文数:164被引数:5,652
M
Mandy Radefeldt
H 指数:7论文数:36被引数:127
N
Najim Ameziane
H 指数:28论文数:95被引数:3,986
C
Christian Beetz
H 指数:41论文数:220被引数:5,404
K
Kornélia Tripolszki
H 指数:14论文数:39被引数:554
Ş
Şevin Turcan
H 指数:27论文数:72被引数:1.0万
M
Majid Alfadhel
H 指数:45论文数:277被引数:7,725
F
Fuad Al Mutairi
H 指数:26论文数:95被引数:2,984
K
Krishna Kumar Kandaswamy
H 指数:21论文数:74被引数:1,921