| The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 881 | 2021 |
| Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood D Lewis-Smith, KJ Kamer, H Griffin, AM Childs, K Pysden, D Titov, J Duff, ... Neurology: Genetics 2 (2), e59, 2016 | 112 | 2016 |
| <? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ... Nucleic acids research 52 (D1), D1333-D1346, 2024 | 105 | 2024 |
| Assessing the landscape of STXBP1-related disorders in 534 individuals J Xian, S Parthasarathy, SM Ruggiero, G Balagura, E Fitch, K Helbig, ... Brain 145 (5), 1668-1683, 2022 | 87 | 2022 |
| Climate change and epilepsy: Insights from clinical and basic science studies MI Gulcebi, E Bartolini, O Lee, CP Lisgaras, F Onat, J Mifsud, P Striano, ... Epilepsy & Behavior 116, 107791, 2021 | 62 | 2021 |
| Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders K Crawford, J Xian, KL Helbig, PD Galer, S Parthasarathy, D Lewis-Smith, ... Genetics in Medicine 23 (7), 1263-1272, 2021 | 59 | 2021 |
| SCP2 mutations and neurodegeneration with brain iron accumulation R Horvath, D Lewis-Smith, K Douroudis, J Duff, M Keogh, A Pyle, ... Neurology 85 (21), 1909-1911, 2015 | 50 | 2015 |
| Natural history study of STXBP1-developmental and epileptic encephalopathy into adulthood H Stamberger, D Crosiers, G Balagura, CM Bonardi, A Basu, G Cantalupo, ... Neurology 99 (3), e221-e233, 2022 | 41 | 2022 |
| Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies PD Galer, S Ganesan, D Lewis-Smith, SE McKeown, M Pendziwiat, ... The American Journal of Human Genetics 107 (4), 683-697, 2020 | 40 | 2020 |
| Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy DJ Lewis-Smith, J Duff, A Pyle, H Griffin, T Polvikoski, D Birchall, ... Neurology: Genetics 2 (6), e110, 2016 | 36 | 2016 |
| Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals L Montanucci, D Lewis-Smith, RL Collins, LM Niestroj, S Parthasarathy, ... Nature communications 14 (1), 4392, 2023 | 30 | 2023 |
| Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery D Lewis‐Smith, S Parthasarathy, J Xian, MC Kaufman, S Ganesan, ... Human mutation 43 (11), 1642-1658, 2022 | 23 | 2022 |
| Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable D Lewis‐Smith, PD Galer, G Balagura, H Kearney, S Ganesan, M Cosico, ... Epilepsia 62 (6), 1293-1305, 2021 | 21 | 2021 |
| Enriching representation learning using 53 million patient notes through human phenotype ontology embedding M Daniali, PD Galer, D Lewis-Smith, S Parthasarathy, E Kim, DD Salvucci, ... Artificial intelligence in medicine 139, 102523, 2023 | 20 | 2023 |
| Clinical and genetic features in patients with reflex bathing epilepsy A Accogli, G Wiegand, M Scala, C Cerminara, M Iacomino, A Riva, ... Neurology 97 (6), e577-e586, 2021 | 20 | 2021 |
| Alien limb in the corticobasal syndrome: phenomenological characteristics and relationship to apraxia DJ Lewis-Smith, N Wolpe, BCP Ghosh, JB Rowe Journal of Neurology 267, 1147-1157, 2020 | 20 | 2020 |
| Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy F McLeod, A Dimtsi, AC Marshall, D Lewis-Smith, R Thomas, GJ Clowry, ... Brain 146 (3), 850-857, 2023 | 19 | 2023 |
| Phenotypic convergence of Menkes and Wilson disease B Bansagi, D Lewis-Smith, E Pal, J Duff, H Griffin, A Pyle, JS Müller, ... Neurology: Genetics 2 (6), e119, 2016 | 19 | 2016 |
| The different clinical facets of SYN1-related neurodevelopmental disorders I Parenti, E Leitão, A Kuechler, L Villard, C Goizet, C Courdier, A Bayat, ... Frontiers in Cell and Developmental Biology 10, 1019715, 2022 | 18 | 2022 |
| Early-onset genetic epilepsies reaching adult clinics D Lewis-Smith, CA Ellis, I Helbig, RH Thomas Brain 143 (3), e19-e19, 2020 | 15 | 2020 |
