| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (4), 649-658, 2019 | 413 | 2019 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 186 | 2019 |
| Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion A Cortese, S Tozza, WY Yau, S Rossi, SJ Beecroft, Z Jaunmuktane, ... Brain 143 (2), 480-490, 2020 | 184 | 2020 |
| Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment V Salpietro, NT Malintan, I Llano-Rivas, CG Spaeth, S Efthymiou, ... The American Journal of Human Genetics 104 (4), 721-730, 2019 | 89 | 2019 |
| The genetics of intellectual disability: advancing technology and gene editing M Ilyas, A Mir, S Efthymiou, H Houlden F1000Research 9, 2020 | 86 | 2020 |
| Mutations in ACTL6B cause neurodevelopmental deficits and epilepsy and lead to loss of dendrites in human neurons S Bell, J Rousseau, H Peng, Z Aouabed, P Priam, JF Theroux, M Jefri, ... The American Journal of Human Genetics 104 (5), 815-834, 2019 | 75 | 2019 |
| RFC1 expansions are a common cause of idiopathic sensory neuropathy R Currò, A Salvalaggio, S Tozza, C Gemelli, N Dominik, V Galassi Deforie, ... Brain 144 (5), 1542-1550, 2021 | 73 | 2021 |
| Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ... The American Journal of Human Genetics 103 (3), 431-439, 2018 | 73 | 2018 |
| PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment M Zollo, M Ahmed, V Ferrucci, V Salpietro, F Asadzadeh, M Carotenuto, ... Brain 140 (4), 940-952, 2017 | 73 | 2017 |
| PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of Neurology 86 (2), 225-240, 2019 | 67 | 2019 |
| A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea V Salpietro, B Perez‐Dueñas, K Nakashima, V San Antonio‐Arce, ... Movement Disorders 33 (3), 482-488, 2018 | 60 | 2018 |
| Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome V Salpietro, W Lin, A Delle Vedove, M Storbeck, Y Liu, S Efthymiou, ... Annals of neurology 81 (4), 597-603, 2017 | 57 | 2017 |
| Bi-allelic JAM2 variants lead to early-onset recessive primary familial brain calcification LV Schottlaender, R Abeti, Z Jaunmuktane, C Macmillan, V Chelban, ... The American Journal of Human Genetics 106 (3), 412-421, 2020 | 54 | 2020 |
| Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination V Chelban, N Patel, J Vandrovcova, MN Zanetti, DS Lynch, M Ryten, ... The American Journal of Human Genetics 100 (6), 969-977, 2017 | 50 | 2017 |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ... Acta Neuropathologica 139, 415-442, 2020 | 49 | 2020 |
| Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination S Efthymiou, V Salpietro, N Malintan, M Poncelet, Y Kriouile, S Fortuna, ... Brain 142 (10), 2948-2964, 2019 | 49 | 2019 |
| A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function V Salpietro, S Efthymiou, A Manole, B Maurya, S Wiethoff, B Ashokkumar, ... Human Mutation 39 (2), 187-192, 2018 | 48 | 2018 |
| Neuronal intranuclear inclusion disease is genetically heterogeneous Z Chen, W Yan Yau, Z Jaunmuktane, A Tucci, P Sivakumar, ... Annals of clinical and translational neurology 7 (9), 1716-1725, 2020 | 45 | 2020 |
| Genome‐wide association study identifies risk loci for cluster headache E O'Connor, C Fourier, C Ran, P Sivakumar, F Liesecke, L Southgate, ... Annals of neurology 90 (2), 193-202, 2021 | 43 | 2021 |
| Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder CM Dias, J Punetha, C Zheng, N Mazaheri, A Rad, S Efthymiou, ... The American Journal of Human Genetics 105 (5), 1048-1056, 2019 | 42 | 2019 |
Jana VandrovcovaSenior research fellow, University College LondonVerified email at ucl.ac.uk
