Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease B Porath, VG Gainullin, E Cornec-Le Gall, EK Dillinger, CM Heyer, ... The American Journal of Human Genetics 98 (6), 1193-1207, 2016 | 466* | 2016 |
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity K Hopp, CJ Ward, CJ Hommerding, SH Nasr, HF Tuan, VG Gainullin, ... The Journal of clinical investigation 122 (11), 4257-4273, 2012 | 394 | 2012 |
Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease E Cornec-Le Gall, RJ Olson, W Besse, CM Heyer, VG Gainullin, JM Smith, ... The American Journal of Human Genetics 102 (5), 832-844, 2018 | 282 | 2018 |
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner VG Gainullin, K Hopp, CJ Ward, CJ Hommerding, PC Harris The Journal of clinical investigation 125 (2), 607-620, 2015 | 140 | 2015 |
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data E Dolzhenko, MF Bennett, PA Richmond, B Trost, S Chen, JJFA van Vugt, ... Genome biology 21, 1-14, 2020 | 133 | 2020 |
Identification of biomarkers for PKD1 using urinary exosomes MC Hogan, JL Bakeberg, VG Gainullin, MV Irazabal, AJ Harmon, ... Journal of the American Society of Nephrology 26 (7), 1661-1670, 2015 | 133 | 2015 |
Molecular diagnostic yield of exome sequencing in patients with cerebral palsy A Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ... Jama 325 (5), 467-475, 2021 | 83 | 2021 |
Estimating the burden and economic impact of pediatric genetic disease N Gonzaludo, JW Belmont, VG Gainullin, RJ Taft Genetics in Medicine 21 (8), 1781-1789, 2019 | 79 | 2019 |
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity AC Leightner, CJ Hommerding, Y Peng, JL Salisbury, VG Gainullin, ... Human molecular genetics 22 (10), 2024-2040, 2013 | 63 | 2013 |
Combinatorial chemoprevention reveals a novel smoothened-independent role of GLI1 in esophageal carcinogenesis S Rizvi, CJ DeMars, A Comba, VG Gainullin, Z Rizvi, LL Almada, K Wang, ... Cancer research 70 (17), 6787-6796, 2010 | 52 | 2010 |
Growth of lung cancer cells in three-dimensional microenvironments reveals key features of tumor malignancy MA Cichon, VG Gainullin, Y Zhang, DC Radisky Integrative Biology 4 (4), 440-448, 2012 | 48 | 2012 |
Uniparental disomy in a population of 32,067 clinical exome trios J Scuffins, J Keller-Ramey, L Dyer, G Douglas, R Torene, V Gainullin, ... Genetics in Medicine 23 (6), 1101-1107, 2021 | 36 | 2021 |
Genome sequencing in persistently unsolved white matter disorders G Helman, BR Lajoie, J Crawford, A Takanohashi, M Walkiewicz, ... Annals of clinical and translational neurology 7 (1), 144-152, 2020 | 28 | 2020 |
HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease: Monoallelic mutations to DNAJB11 cause atypical … E Cornec-Le Gall, RJ Olson, W Besse, CM Heyer, VG Gainullin, JM Smith, ... Am J Hum Genet 102 (832-844), 29706351, 2018 | 26 | 2018 |
Disrupting polycystin-2 EF hand Ca2+ affinity does not alter channel function or contribute to polycystic kidney disease TN Vien, LCT Ng, JM Smith, K Dong, M Krappitz, VG Gainullin, S Fedeles, ... Journal of cell science 133 (24), jcs255562, 2020 | 12 | 2020 |
Cl− and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl−/H+ exchanger ClC-5 MH Chang, MR Brown, Y Liu, VG Gainullin, PC Harris, MF Romero, ... Journal of Biological Chemistry 295 (6), 1464-1473, 2020 | 12 | 2020 |
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts AJ Kundishora, G Allington, S McGee, KY Mekbib, V Gainullin, ... Nature medicine 29 (3), 667-678, 2023 | 6 | 2023 |
Correction: Estimating the burden and economic impact of pediatric genetic disease N Gonzaludo, JW Belmont, VG Gainullin, RJ Taft Genetics in Medicine 21 (9), 2161, 2019 | 6 | 2019 |
SUFU promotes GLI activity in a Hedgehog-independent manner in pancreatic cancer BD Paradise, VG Gainullin, LL Almada, AN Sigafoos, S Sen, RE Vera, ... Biochemical Journal 480 (15), 1199-1216, 2023 | 1 | 2023 |
Cerebral palsy is caused by genomic variants in 27% of patients undergoing exome sequencing F Millan, A Moreno-De-Luca, S Lewis, HZ Elloumi, DR Pesacreta, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 382-383, 2020 | | 2020 |