| Why are there hotspot mutations in the TP53 gene in human cancers? EH Baugh, H Ke, AJ Levine, RA Bonneau, CS Chan Cell Death & Differentiation 25 (1), 154-160, 2018 | 529 | 2018 |
| Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy MR Winawer, NG Griffin, J Samanamud, EH Baugh, D Rathakrishnan, ... Annals of neurology 83 (6), 1133-1146, 2018 | 118 | 2018 |
| Real-time PyMOL visualization for Rosetta and PyRosetta EH Baugh, S Lyskov, BD Weitzner, JJ Gray PLoS One 6 (8), e21931, 2011 | 80 | 2011 |
| SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder V Del Dotto, F Ullah, I Di Meo, P Magini, M Gusic, A Maresca, L Caporali, ... The Journal of clinical investigation, 2019 | 75 | 2019 |
| Robust classification of protein variation using structural modelling and large-scale data integration EH Baugh, R Simmons-Edler, CL Müller, RF Alford, N Volfovsky, AE Lash, ... Nucleic acids research 44 (6), 2501-2513, 2016 | 71 | 2016 |
| Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis N Dinckan, R Du, LE Petty, Z Coban-Akdemir, SN Jhangiani, I Paine, ... Journal of dental research 97 (1), 49-59, 2018 | 53 | 2018 |
| NBEA: Developmental disease gene with early generalized epilepsy phenotypes MS Mulhern, C Stumpel, N Stong, HG Brunner, L Bier, N Lippa, J Riviello, ... Annals of neurology 84 (5), 788-795, 2018 | 40 | 2018 |
| Role of WNT10A in failure of tooth development in humans and zebrafish Q Yuan, M Zhao, B Tandon, L Maili, X Liu, A Zhang, EH Baugh, T Tran, ... Molecular genetics & genomic medicine 5 (6), 730-741, 2017 | 32 | 2017 |
| Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease K Eade, ML Gantner, JA Hostyk, T Nagasaki, S Giles, R Fallon, ... Nature Metabolism 3 (3), 366-377, 2021 | 31 | 2021 |
| Influence of surface charge, binding site residues and glycosylation on Thielavia terrestris cutinase biochemical characteristics AN Shirke, D Basore, S Holton, A Su, E Baugh, GL Butterfoss, ... Applied microbiology and biotechnology 100 (10), 4435-4446, 2016 | 31 | 2016 |
| Pre-detection history of extensively drug-resistant tuberculosis in KwaZulu-Natal, South Africa TS Brown, L Challagundla, EH Baugh, SV Omar, A Mustaev, SC Auld, ... Proceedings of the National Academy of Sciences 116 (46), 23284-23291, 2019 | 27 | 2019 |
| Genetic testing in individuals with cerebral palsy HJ May, JA Fasheun, JM Bain, EH Baugh, LE Bier, A Revah‐Politi, ... Developmental Medicine & Child Neurology, 2021 | 23 | 2021 |
| Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis Y Zeng, E Baugh, S Akyalcin, A Letra Journal of Dental Research, 0022034520962728, 2020 | 21 | 2020 |
| CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity ME Ernst, EH Baugh, A Thomas, L Bier, N Lippa, N Stong, MS Mulhern, ... Epilepsia, 2021 | 17 | 2021 |
| The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders A Alkelai, L Greenbaum, AR Docherty, AA Shabalin, G Povysil, A Malakar, ... Molecular psychiatry, 1-13, 2021 | 16 | 2021 |
| Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis A Cohen, J Hostyk, EH Baugh, CM Buchovecky, VS Aggarwal, RR Recker, ... Bone, 116253, 2021 | 14 | 2021 |
| Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder S Küry, F Ebstein, A Mollé, T Besnard, MK Lee, V Vignard, T Hery, ... The American Journal of Human Genetics, 2022 | 10 | 2022 |
| A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome JA Sullivan, N Stong, EH Baugh, MT McDonald, A Takeuchi, V Shashi American Journal of Medical Genetics Part A, 2020 | 10 | 2020 |
| New insights into tardive dyskinesia genetics: Implementation of whole-exome sequencing approach A Alkelai, L Greenbaum, EL Heinzen, EH Baugh, A Teitelbaum, X Zhu, ... Progress in Neuro-Psychopharmacology and Biological Psychiatry, 109659, 2019 | 10 | 2019 |
| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders HJ May, J Jeong, A Revah-Politi, JS Cohen, A Chassevent, J Baptista, ... Genetics in Medicine, 1-10, 2021 | 5 | 2021 |
