| Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy L Al-Olabi, S Polubothu, K Dowsett, KA Andrews, P Stadnik, AP Joseph, ... The Journal of clinical investigation 128 (4), 1496-1508, 2018 | 259 | 2018 |
| Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi S Polubothu, N McGuire, L Al‐Olabi, W Baird, N Bulstrode, J Chalker, ... British Journal of Dermatology 182 (2), 434-443, 2020 | 55 | 2020 |
| Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause J Zhou, EAB Azizan, CP Cabrera, FL Fernandes-Rosa, S Boulkroun, ... Nature genetics 53 (9), 1360-1372, 2021 | 48 | 2021 |
| GNA11 mutation as a cause of Sturge-Weber syndrome: expansion of the phenotypic spectrum of Gα/11 mosaicism and the associated clinical diagnoses S Polubothu, L Al-Olabi, MC Del Boente, A Chacko, G Eleftheriou, ... The Journal of Investigative Dermatology 140 (5), 1110, 2020 | 41 | 2020 |
| Congenital diaphragmatic hernia—influence of fetoscopic tracheal occlusion on outcomes and predictors of survival K Ali, P Bendapudi, S Polubothu, G Andradi, M Ofuya, J Peacock, ... European journal of pediatrics 175, 1071-1076, 2016 | 36 | 2016 |
| Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome P Vabres, A Sorlin, SS Kholmanskikh, B Demeer, J St-Onge, Y Duffourd, ... Nature genetics 51 (10), 1438-1441, 2019 | 29 | 2019 |
| Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study S Polubothu, VA Kinsler British Journal of Dermatology 182 (3), 721-728, 2020 | 24 | 2020 |
| Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities V Carmignac, C Mignot, E Blanchard, P Kuentz, MH Aubriot-Lorton, ... Genetics in Medicine 23 (8), 1484-1491, 2021 | 20 | 2021 |
| Molecular genetic dissection of inflammatory linear verrucous epidermal naevus leads to successful targeted therapy M Riachi, S Polubothu, P Stadnik, C Hughes, SB Martin, CR Charman, ... The Journal of Investigative Dermatology 141 (12), 2979, 2021 | 11 | 2021 |
| Copy number abnormalities in new or progressive ‘neurocutaneous melanosis’ confirm it to be primary CNS melanoma VA Kinsler, S Polubothu, JE Calonje, WK Chong, D Thompson, ... Acta Neuropathologica 133, 329-331, 2017 | 11 | 2017 |
| An audit of prophylactic antibiotic use in laryngeal reconstruction surgery S Polubothu, S Harrison, A Clement, H Kubba International journal of pediatric otorhinolaryngology 73 (8), 1157-1159, 2009 | 11 | 2009 |
| Phakomatosis pigmentovascularis spilorosea and speckled lentiginous naevus syndrome are caused by mosaic mutations in the gene PTPN11 S Polubothu, N Bender, S Muthiah, Z Zeng, M Boehm, S Barbarot, ... BRITISH JOURNAL OF DERMATOLOGY 181, 81-81, 2019 | 9 | 2019 |
| Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype S Polubothu, D Zecchin, L Al-Olabi, DA Lionarons, M Harland, S Horswell, ... Genetics in Medicine 23 (9), 1636-1647, 2021 | 8 | 2021 |
| Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis S Polubothu, M Glover, SE Holder, VA Kinsler British Journal of Dermatology 179 (5), 1214-1215, 2018 | 8 | 2018 |
| A mosaic variant in MAP2K1 is associated with giant naevus spilus‐type congenital melanocytic naevus and melanoma development S Muthiah, S Polubothu, A Husain, T Oliphant, VA Kinsler, N Rajan British Journal of Dermatology 183 (4), 760-761, 2020 | 7 | 2020 |
| Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome S Polubothu, RH Scott, P Vabres, VA Kinsler British Journal of Dermatology 177 (5), e185-e186, 2017 | 7 | 2017 |
| Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome S Polubothu, L Al‐Olabi, L Wilson, WK Chong, VA Kinsler British Journal of Dermatology 175 (3), 612-614, 2016 | 7 | 2016 |
| GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis JM Sliepka, SC McGriff, LZ Rossetti, P Bizargity, H Streff, YS Lee, H Dai, ... Neurology: Genetics 5 (6), e366, 2019 | 6 | 2019 |
| The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics S Polubothu, VA Kinsler British Journal of Dermatology 176 (5), 1385-1387, 2017 | 6 | 2017 |
| Outcomes of surgery for laryngotracheal stenosis—the parents perspective S Polubothu, KJ Blackmore, H Kubba International Journal of Pediatric Otorhinolaryngology 75 (3), 425-429, 2011 | 6 | 2011 |
