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A

Artem Borovikov

research centre for medical genetics
H指数:9
被引数:336

个人简介

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荣誉奖项

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Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease Severity

SLC26A2相关骨骼发育不良表型谱在115例患者的队列研究：一种新型复合等位基因修饰疾病严重程度的证据

Genetics in Medicine
IF6.2
2026-10-050
PRE
Daria Gorodilova; Tatiana Markova; Vladimir Kenis; Evgenii Melchenko; Alexandra Filatova; Natalia Ogorodova; Gusein Rustamov; Elena Dadali; Tatiana Nagornova; Natalya Skoblova; Olga Khailova; Alexandra Akinshina; Artem Borovikov; Vyacheslav Tabakov; Eugene Tatarskiy; Andrey Marakhonov; Yurii Skoblov; Olga Shchagina; Sergey Kutsev; Mikhail Skoblov
Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

PIGB基因双等位基因变异导致伴有传导阻滞和周围神经高兴奋性的运动神经病变

Annals of Neurology
IF7.7
2026-10-010
OAAI
Gorka Fernández-Eulate MD, PhD; Romain Duval PhD; Marina Konyukh MD, PhD; Alessandro Bertini MD; Ayse Candayan PhD; Albena Jordanova PhD; Theresa Brunet MD; Wolfgang Müller-Felber MD; Helena F. Pernice MD; Katrin Hahn MD; Nadja Ehmke MD; Juliane Beuschlein MD; Bertrand Isidor MD, PhD; Benjamin Cogné PharmD, PhD; Yann Péréon MD, PhD; Annabelle Chaussenot MD; John Rendu PharmD, PhD; Aysylu Murtazina MD, PhD; Dmitrii Subbotin MD; Artem Borovikov MD, PhD; Andrey Marakhonov PhD; Chiara Pisciotta MD, PhD; Paola Saveri BSc; Daniele Cazzato MD, PhD; Lucie Lemeray; Bérengère Koehl MD, PhD; Jean-Madeleine de Sainte-Agathe MD, PhD; Stefano Facchini PhD; Ilaria Quartesan MD; Andrea Cortese MD, PhD; Yesim Parman MD; Arman Cakar MD; Davide Pareyson MD; Slim Azouzi PhD; Tanya Stojkovic MD
The Russian FSHD registry: a first look at the cohort

俄罗斯FHSF登记研究：对队列的初步观察

Human Genetics
IF3.6
2026-08-080
PRE
Anna Kuchina; Darya Sherstyukova; Artem Borovikov; Margarita Soloshenko; Nikolay Zernov; Dmitrii Subbotin; Elena Dadali; Inna Sharkova; Galina Rudenskaya; Sergey Kutsev; Mikhail Skoblov; Aysylu Murtazina
Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies

对125例经基因确诊的远端肌营养不良症诊断陷阱的分析

Journal of Neuromuscular Diseases
IF3.4
2026-06-240
PRE
Dmitrii Subbotin; Artem Borovikov; Anna Kuchina; Inna Sharkova; Anastasia Vlasenko; Galina Rudenskaya; Sergey Nikitin; Olga Gilvanova; Daniil Degterev; Dmitry Druzhinin; Evgenia Druzhinina; Daria Grishina; Elena Dadali; Andrey Marakhonov; Polina Chausova; Sergei Fomenko; Oxana Ryzhkova; Olga Shchagina; Sergey Kutsev; Aysylu Murtazina
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

SLC6A1变异致病性、分子功能和表型: 遗传和临床分析

BRAIN
IF11.7
2023-08-304
OAAI
Stefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abuli, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Moller, Rikke S.; Lal, Dennis
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
BRAIN
IF11.7
2021-08-2577
OA
Johannesen, Katrine M.; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E.; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D.; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A.; Lauxmann, Stephan; Krueger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes R.; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P. Y. Billie; Rho, Jong M.; Ho, Alice W.; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E.; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; Braakman, Hilde M. H.; van der Zwaag, Bert; Harder, Aster V. E.; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Ngoc Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M. Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M.; Muller-Schluter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger; Moller, Rikke S.
BiallelicMFSD2Avariants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2020-06-2216
OAAI
Scala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S.; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Manzini, M. Chiara; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza; Silver, David L.

研究方向

暂未获取到该数据
A
Aysylu Murtazina
H 指数:6论文数:81被引数:147
Е
Е. Л. Дадали
H 指数:16论文数:230被引数:3,571
M
Mikhail Skoblov
H 指数:18论文数:158被引数:1,728
S
Sergey I. Kutsev
H 指数:28论文数:390被引数:3,203
A
Alexandra Filatova
H 指数:9论文数:52被引数:372
A
Artem Sharkov
H 指数:9论文数:55被引数:382
A
Anna Kuchina
H 指数:2论文数:17被引数:10
P
Pasquale Striano
H 指数:86论文数:1,383被引数:3.3万
K
Katherine B. Howell
H 指数:34论文数:102被引数:5,029
P
Patrick May
H 指数:61论文数:405被引数:1.3万