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Satyamaanasa Polubothu
Satyamaanasa Polubothu
Verified email at ucl.ac.uk
Title
Cited by
Cited by
Year
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
2512018
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
512020
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
472021
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
382020
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
362016
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
262019
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
212020
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
172021
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
112017
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
102009
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
92021
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
92019
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
82018
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
72021
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
72020
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
72017
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
72016
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
62017
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
62011
Keratinocytic epidermal nevi associated with localized fibro‐osseous lesions without hypophosphatemia
L Mestach, S Polubothu, A Calder, E Denayer, K Gholam, E Legius, ...
Pediatric dermatology 37 (5), 890-895, 2020
52020
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