| Studying plant genome variation using molecular markers SA Gostimsky, ZG Kokaeva, FA Konovalov Russian Journal of Genetics 41, 378-388, 2005 | 108 | 2005 |
| Guidelines for the interpretation of massive parallel sequencing variants (update 2018, v2) OP Ryzhkova, OL Kardymon, EB Prohorchuk, FA Konovalov, ... Med. Genet 18 (2), 3-23, 2019 | 56* | 2019 |
| Molecular markers based on LTR retrotransposons BARE-1 and Jeli uncover different strata of evolutionary relationships in diploid wheats FA Konovalov, NP Goncharov, S Goryunova, A Shaturova, ... Molecular Genetics and Genomics 283, 551-563, 2010 | 51 | 2010 |
| A CAPS marker set for mapping in linkage group III of pea (Pisum sativum L.) F Konovalov, E Toshchakova, S Gostimsky Cell. Mol. Biol. Lett 10 (1), 163-171, 2005 | 49 | 2005 |
| De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy F Tran Mau-Them, L Guibaud, L Duplomb, B Keren, K Lindstrom, I Marey, ... Genetics in Medicine 21 (4), 1008-1014, 2019 | 41 | 2019 |
| De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features ER Lozier, FA Konovalov, IV Kanivets, DV Pyankov, PA Koshkin, ... Journal of Human Genetics 63 (8), 919-922, 2018 | 33 | 2018 |
| Genetic diversity, distribution and domestication history of the neglected GGAtAt genepool of wheat ED Badaeva, FA Konovalov, H Knüpffer, A Fricano, AS Ruban, Z Kehel, ... Theoretical and Applied Genetics 134 (10), 3493, 2021 | 29 | 2021 |
| Autosomal recessive hypotrichosis with woolly hair caused by a mutation in the keratin 25 gene expressed in hair follicles NV Zernov, MY Skoblov, AV Marakhonov, Y Shimomura, TA Vasilyeva, ... Journal of Investigative Dermatology 136 (6), 1097-1105, 2016 | 28 | 2016 |
| Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features M Scala, GL Chua, CF Chin, HS Alsaif, A Borovikov, S Riazuddin, ... European Journal of Human Genetics 28 (11), 1509-1519, 2020 | 23 | 2020 |
| Guidelines for the interpretation of massive parallel sequencing variants OP Ryzhkova, OL Kardymon, EB Prohorchuk, FA Konovalov, ... Medical genetics 16 (7), 4-17, 2017 | 20 | 2017 |
| Identification of RAPD markers and their use for molecular mapping in pea (Pisum sativum L.) K Cheghamirza, O Koveza, F Konovalov, S Gostimsky Cellular and Molecular Biology Letters 7 (2B), 649-656, 2002 | 20 | 2002 |
| Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders AV Marakhonov, FA Konovalov, AK Makaov, TA Vasilyeva, VV Kadyshev, ... BMC Medical Genomics 11, 91-95, 2018 | 19 | 2018 |
| Identification and Mapping of chi115 Gene and DNA Markers Linked to It in Pea (Pisum sativum L.) K Cheghamirza, OV Koveza, FA Konovalov, SA Gostimsky Russian Journal of Genetics 40, 737-742, 2004 | 17 | 2004 |
| Identification and mapping of polymorphic RAPD markers of pea (Pisum sativum L.) genome OV Koveza, ZG Kokaeva, FA Konovalov, SA Gostimsky Russian Journal of Genetics 41, 262-268, 2005 | 16 | 2005 |
| Ataxia with oculomotor apraxia type 4 with PNKP common “Portuguese” and novel mutations in two Belarusian families GE Rudenskaya, AV Marakhonov, OA Shchagina, ER Lozier, EL Dadali, ... Journal of Pediatric Genetics 8 (02), 058-062, 2019 | 15 | 2019 |
| Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene NA Barashkov, FA Konovalov, TV Borisova, FM Teryutin, AV Solovyev, ... European Journal of Human Genetics 29 (6), 965-976, 2021 | 13 | 2021 |
| Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature A Khoreva, E Pomerantseva, N Belova, I Povolotskaya, F Konovalov, ... Frontiers in pediatrics 8, 577, 2020 | 13 | 2020 |
| Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis AV Marakhonov, AA Voskresenskaya, MJ Ballesta, FA Konovalov, ... Orphanet Journal of Rare Diseases 15, 1-10, 2020 | 11 | 2020 |
| Complex transposon insertion as a novel cause of pompe disease I Bychkov, G Baydakova, A Filatova, O Migiaev, A Marakhonov, ... International journal of molecular sciences 22 (19), 10887, 2021 | 10 | 2021 |
| Hereditary diseases and syndromes accompanied by febrile convulsions: clinical and genetic characteristics and diagnostic procedures EL Dadali, AA Sharkov, IV Sharkova, IV Kanivets, FA Konovalov, ... Russian Journal of Child Neurology 11 (2), 33-41, 2016 | 9 | 2016 |
Andrey MarakhonovResearch Centre for Medical Genetics, Russian Academy of Medical SciencesVerified email at generesearch.ru
