Browse by UCL people
Group by: Type | Date
Number of items: 72.
Article
Al-Olabi, L;
Polubothu, S;
Dowsett, K;
Andrews, KA;
Stadnik, P;
Joseph, AP;
Knox, R;
... Kinsler, VA; + view all
(2018)
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
The Journal of Clinical Investigation
, 128
(4)
pp. 1496-1508.
10.1172/JCI98589.
|
Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID-19 in children: Part 1.
Clinical and Experimental Dermatology
, 46
(3)
pp. 444-450.
10.1111/ced.14481.
|
Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID‐19 in children: Part 2.
Clinical and Experimental Dermatology
, 46
(3)
pp. 451-461.
10.1111/ced.14482.
|
Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID‐19 in children: Part 3.
Clinical and Experimental Dermatology
, 46
(3)
pp. 462-472.
10.1111/ced.14483.
|
Balogh, E;
Chandler, J;
Varga, M;
Tahoun, M;
Menyhárd, DK;
Schay, G;
Goncalves, T;
... Tory, K; + view all
(2020)
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proceedings of the National Academy of Sciences of the United States of America
, 117
(26)
pp. 15137-15147.
10.1073/pnas.2002328117.
|
Bryant, Dale;
Barberan-Martin, Sara;
Maeshima, Ruhina;
Torres, Ignacio Del Valle;
Rabii, Mohammad;
Baird, William;
Sauvadet, Aimie;
... Kinsler, Veronica A; + view all
(2024)
RNA therapy for oncogenic NRAS-driven naevi induces apoptosis.
Journal of Investigative Dermatology
10.1016/j.jid.2024.04.031.
(In press).
|
Busam, KJ;
Shah, KN;
Gerami, P;
Sitzman, T;
Jungbluth, AA;
Kinsler, V;
(2017)
Reduced H3K27me3 Expression Is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules.
The American Journal of Surgical Pathology
, 41
(3)
pp. 396-404.
10.1097/PAS.0000000000000769.
|
Carmignac, V;
Mignot, C;
Blanchard, E;
Kuentz, P;
Aubriot-Lorton, M-H;
Parker, VER;
Sorlin, A;
... Duvert-Lehembre, S; + view all
(2021)
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genetics in Medicine
10.1038/s41436-021-01161-6.
(In press).
|
Castillo, SD;
Tzouanacou, E;
Zaw-Thin, M;
Berenjeno, IM;
Parker, VE;
Chivite, I;
Milà-Guasch, M;
... Vanhaesebroeck, B; + view all
(2016)
Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.
Science Translational Medicine
, 8
(332)
, Article 332ra43. 10.1126/scitranslmed.aad9982.
|
Cave, A;
Plumptre, I;
Mellerio, JE;
Martinez, AE;
Kinsler, VA;
(2020)
The adverse effect profile of acitretin in a pediatric dermatology population-Longitudinal cohort study and recommendations for monitoring.
Journal of the American Academy of Dermatology
10.1016/j.jaad.2020.03.082.
(In press).
|
Chen, W;
Kinsler, VA;
Macmillan, D;
Di, W-L;
(2016)
Tissue Kallikrein Inhibitors Based on the Sunflower Trypsin Inhibitor Scaffold - A Potential Therapeutic Intervention for Skin Diseases.
PLOS ONE
, 11
(11)
10.1371/journal.pone.0166268.
|
de la Rosa Carrillo, D;
Vindenes, H;
Kinsler, VA;
Rønnestad, A;
Ringstad, G;
Müller, L-SO;
Tafjord, S;
... Clausen, OPF; + view all
(2018)
Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation‐negative nodules.
Pediatric Dermatology
, 35
(5)
e281-e285.
10.1111/pde.13595.
|
Di Stasi, M;
Mankad, K;
Carney, O;
Loebel, U;
Biswas, A;
Sudhakar, S;
Kinsler, V;
(2023)
Congenital melanocytic naevus syndrome and Dandy-Walker malformation — a mistaken association: case report and literature review.
Neuroradiology
, 65
(6)
pp. 1077-1086.
10.1007/s00234-023-03150-9.
|
|
Dyankova-Peeva, Daniela;
Kinsler, Veronica A;
(2025)
Complete spontaneous resolution of NRAS-mosaic multiple congenital melanocytic naevi – proof of principle for therapeutic mole reversal.
British Journal of Dermatology
, Article ljaf447. 10.1093/bjd/ljaf447.
(In press).
|
Estapé, A;
Josifova, D;
Rampling, D;
Glover, M;
Kinsler, VA;
(2015)
Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.
British Journal of Dermatololgy
, 173
(1)
pp. 304-307.
10.1111/bjd.13636.
|
Fuggle, NR;
Bragoli, W;
Mahto, A;
Glover, M;
Martinez, AE;
Kinsler, VA;
(2015)
The adverse effect profile of oral azathioprine in pediatric atopic dermatitis, and recommendations for monitoring.
Journal of the American Academy of Dermatology
, 72
(1)
pp. 108-114.
10.1016/j.jaad.2014.08.048.
|
Funkhouser, CH;
Kinsler, VA;
Frieden, IJ;
(2019)
Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development.
Pediatric Dermatology
, 36
(4)
pp. 511-513.
10.1111/pde.13831.
|
Hughes, C;
Ferro, A;
Dubb, S;
Gass, J;
Hook, L;
Santhanam, V;
Kinsler, V;
(2021)
Epidermal choristoma: a case series and review of the literature.
Pediatric Dermatology
, 38
(5)
pp. 1243-1246.
10.1111/pde.14589.
|
Hughes, Connor T;
Dadhra, Jusvinder;
Polubothu, Satyamaanasa;
Kinsler, Veronica A;
(2024)
Vitamin D status in children with congenital melanocytic nevi.
Pediatric Dermatology
, 41
(1)
pp. 58-60.
10.1111/pde.15462.
|
Jacobsen, JOB;
Baudis, M;
Baynam, GS;
Beckmann, JS;
Beltran, S;
Buske, OJ;
Callahan, TJ;
... Robinson, PN; + view all
(2022)
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Nature Biotechnology
, 40
(6)
pp. 817-820.
10.1038/s41587-022-01357-4.
|
Kinsler, V;
Boccara, O;
Fraitag, S;
Torrelo, A;
Vabres, P;
Diociauti, A;
(2020)
Mosaic abnormalities of the skin – review and guidelines from the European Reference Network for rare skin diseases (ERN-Skin).
British Journal of Dermatology
, 182
(3)
pp. 552-563.
10.1111/bjd.17924.
|
Kinsler, VA;
Drury, S;
Khan, A;
Waelchli, R;
Rukaite, G;
Barnicoat, A;
Lench, N;
... O'Shaughnessy, RF; + view all
(2015)
A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.
Br J Dermatol
, 172
(1)
262 - 264.
10.1111/bjd.13361.
|
Kinsler, VA;
Krengel, S;
Riviere, JB;
Waelchli, R;
Chapusot, C;
Al-Olabi, L;
Faivre, L;
... Vabres, P; + view all
(2014)
Next Generation Sequencing of Nevus Spilus-Type Congenital Melanocytic Nevus: Exquisite Genotype-Phenotype Correlation in Mosaic RASopathies.
[Letter].
J Invest Dermatol
, 134
pp. 2658-2660.
10.1038/jid.2014.195.
|
Kinsler, VA;
Larue, L;
(2017)
The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation.
Pigment Cell and Melanoma Research
10.1111/pcmr.12645.
(In press).
|
Kinsler, VA;
O'Hare, P;
Bulstrode, N;
Calonje, JE;
Chong, WK;
Hargrave, D;
Jacques, T;
... Slater, O; + view all
(2017)
Melanoma in congenital melanocytic naevi.
British Journal of Dermatology
, 176
(5)
pp. 1131-1143.
10.1111/bjd.15301.
|
Kinsler, VA;
O'Hare, P;
Jacques, T;
Hargrave, D;
Slater, O;
(2017)
MEK inhibition appears to improve symptom control in primary NRAS-driven CNS melanoma in children.
British Journal of Cancer
10.1038/bjc.2017.49.
(In press).
|
Kinsler, VA;
Polubothu, S;
Calonje, JE;
Chong, WK;
Thompson, D;
Jacques, TS;
Morrogh, D;
(2016)
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma.
Acta Neuropathologica
, 133
(2)
pp. 329-331.
10.1007/s00401-016-1651-0.
|
Kinsler, VA;
Thomas, AC;
Ishida, M;
Bulstrode, NW;
Loughlin, S;
Hing, S;
Chalker, J;
... Moore, GE; + view all
(2013)
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Journal of Investigative Dermatology
, 133
(9)
pp. 2229-2236.
10.1038/jid.2013.70.
|
Kittler, NW;
Mathes, EF;
Kinsler, V;
Frieden, IJ;
(2019)
The biker-glove pattern of congenital melanocytic nevi.
Pediatric Dermatology
, 36
(6)
pp. 918-921.
10.1111/pde.13939.
|
Knöpfel, Nicole;
Barberan-Martin, Sara;
Polubothu, Satyamaanasa;
Sauvadet, Aimie;
Bryant, Dale;
Laskar, Rezwanuzzaman;
Izadi, Fereshteh;
... Kinsler, Veronica A; + view all
(2025)
Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.
British Journal of Dermatology
, Article ljaf481. 10.1093/bjd/ljaf481.
(In press).
|
Knopfel, Nicole;
Kuentz, Paul;
Mitra, Angana;
Ogunbiyi, Olumide;
Communie, Antoine;
Vabres, Pierre;
Muinonen-Martin, Andrew;
... Kinsler, Veronica A; + view all
(2025)
Segmental corymbiform congenital melanocytic naevi: Implications for melanocytic embryology.
Journal of The European Academy of Dermatology and Venereology
10.1111/jdv.20661.
|
Knöpfel, Nicole;
Zecchin, Davide;
Richardson, Hanna;
Polubothu, Satyamaanasa;
Barberan-Martin, Sara;
Cullup, Thomas;
Gholam, Karolina;
... Kinsler, Veronica A; + view all
(2023)
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Journal of Investigative Dermatology
10.1016/j.jid.2023.09.008.
(In press).
|
Lee, MY;
Wang, H-Z;
White, TW;
Brooks, T;
Pittman, A;
Halai, H;
Petrova, A;
... Di, W-L; + view all
(2020)
Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.
Journal of Investigative Dermatology
, 140
(5)
1035-1044.e7.
10.1016/j.jid.2019.09.022.
|
Lescai, F;
Bonfiglio, S;
Bacchelli, C;
Chanudet, E;
Waters, A;
Sisodiya, SM;
Kasperavičiūtė, D;
... Stupka, E; + view all
(2012)
Characterisation and validation of insertions and deletions in 173 patient exomes.
PLoS One
, 7
(12)
, Article e51292. 10.1371/journal.pone.0051292.
|
Mahon, C;
McHugh, K;
Alband, N;
Rampling, D;
Sebire, N;
Williamson, E;
Glover, M;
(2021)
Routine liver ultrasound screening does not alter clinical management in a cohort study of multiple cutaneous infantile haemangioma.
British Journal of Dermatology
, 184
(2)
pp. 340-341.
10.1111/bjd.19472.
|
Marmoy, OR;
Kinsler, VA;
Henderson, RH;
Handley, SE;
Moore, W;
Thompson, DA;
(2021)
Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.
Documenta Ophthalmologica
, 142
pp. 119-126.
10.1007/s10633-020-09778-9.
|
Martin, Sara Barberan;
Polubothu, Satyamaanasa;
Bruzos, Alicia Lopez;
Kelly, Gavin;
Horswell, Stuart;
Sauvadet, Aimie;
Bryant, Dale;
... Kinsler, Veronica; + view all
(2023)
Mosaic BRAF fusions are a recurrent cause of congenital melanocytic naevi targetable by MEK inhibition.
Journal of Investigative Dermatology
10.1016/j.jid.2023.06.213.
(In press).
|
Martins da Silva, V;
Kinsler, V;
(2016)
Infantile haemangiomas do not occur more frequently in children with congenital melanocytic naevi.
[Letter].
British Journal of Dermatology
, 176
(2)
pp. 510-511.
10.1111/bjd.14791.
|
McGlacken-Byrne, SM;
Abdelmaksoud, A;
Haini, M;
Palm, L;
Ashworth, M;
Li, J;
Wang, W;
... Dattani, MT; + view all
(2022)
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing’s syndrome and acral cutaneous mucinosis.
European Journal of Endocrinology
, 187
(6)
K55-K61.
10.1530/EJE-22-0287.
|
Mestach, L;
Polubothu, S;
Calder, A;
Denayer, E;
Gholam, K;
Legius, E;
Levtchenko, E;
... Morren, M-A; + view all
(2020)
Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.
Pediatric Dermatology
, 37
(5)
pp. 890-895.
10.1111/pde.14254.
|
Murthy, AS;
Kinsler, V;
(2018)
White scarlike lesions in a female infant with bilious emesis and sixth nerve palsy.
Pediatric Dermatology
, 35
(2)
pp. 242-243.
10.1111/pde.13403.
|
Muthiah, S;
Polubothu, S;
Husain, A;
Oliphant, T;
Kinsler, VA;
Rajan, N;
(2020)
A mosaic variant in MAP2K1 is associated with giant naevus spilus-type congenital melanocytic naevus and melanoma development.
British Journal Of Dermatology
10.1111/bjd.19118.
(In press).
|
Pawlikowski, JS;
Brock, C;
Chen, SC;
Al-Olabi, L;
Nixon, C;
McGregor, F;
Paine, S;
... Adams, PD; + view all
(2015)
Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling.
Journal of Investigative Dermatology
, 135
(8)
pp. 2093-2101.
10.1038/jid.2015.114.
|
Pereira, BI;
Devine, OP;
Vukmanovic-Stejic, M;
Chambers, ES;
Subramanian, P;
Patel, N;
Virasami, A;
... Akbar, AN; + view all
(2019)
Senescent cells evade immune clearance via HLA-E-mediated NK and CD8^{+} T cell inhibition.
Nature Communications
, 10
(1)
, Article 2387. 10.1038/s41467-019-10335-5.
|
Plumptre, I;
Polubothu, S;
Thomas, D;
Kinsler, V;
(2017)
White Eyelashes and Red Eyes in a 7‐Year‐Old Boy.
Pediatric Dermatology
, 34
(5)
pp. 612-613.
10.1111/pde.13213.
|
Plumptre, I;
Stuart, G;
Cerullo, A;
Kinsler, VA;
(2018)
Sedation for screening MRI in patients with congenital melanocytic naevi under the age of one is a successful, safe and economical first-line approach.
[Letter].
British Journal of Dermatology
10.1111/bjd.17263.
(In press).
|
Polubothu, S;
Abdin, D;
Barysch, M;
Thomas, A;
Bulstrode, N;
Evans, R;
Solman, L;
... Kinsler, VA; + view all
(2020)
Dermatological signs lead to discovery of mosaic ACTB variants in segmental odonto-maxillary dysplasia.
British Journal of Dermatology
, 183
(6)
pp. 1128-1130.
10.1111/bjd.19339.
|
Polubothu, Satyamaanasa;
Bender, Nicole;
Muthiah, Siobhan;
Zecchin, Davide;
Demetriou, Charalambos;
Martin, Sara Barberan;
Malhotra, Sony;
... Kinsler, Veronica A; + view all
(2022)
PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma.
Journal of Investigative Dermatology
10.1016/j.jid.2022.09.661.
(In press).
|
Polubothu, Satyamaanasa;
Riachi, Melissa;
Stadnik, Paulina;
Ogunbiyi, Olumide;
Braendli-Waelchli, Regula;
Cullup, Thomas;
Sebire, Neil J;
... Kinsler, Veronica A; + view all
(2024)
Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling.
Journal of the American Academy of Dermatology
10.1016/j.jaad.2024.01.075.
(In press).
|
Polubothu, S;
A-Olabi, L;
Carmen Del Boente, M;
Chacko, A;
Eleftheriou, G;
Glover, M;
Jiménez-Gallo, D;
... Kinsler, VA; + view all
(2020)
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.
Journal of Investigative Dermatology
, 140
(5)
pp. 1110-1113.
10.1016/j.jid.2019.10.019.
|
Polubothu, S;
Al-Olabi, L;
Wilson, L;
Chong, WK;
Kinsler, VA;
(2016)
Extending the spectrum of AKT1 mosaicism - not just the Proteus syndrome.
British Journal of Dermatology
, 175
(3)
pp. 612-614.
10.1111/bjd.14478.
|
Polubothu, S;
Glover, M;
Holder, S;
Kinsler, V;
(2018)
Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis.
[Letter].
British Journal of Dermatology
, 179
(5)
pp. 1214-1215.
10.1111/bjd.16999.
|
Polubothu, S;
Kinsler, VA;
(2020)
Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study.
British Journal of Dermatology
, 182
(3)
pp. 721-728.
10.1111/bjd.18149.
|
Polubothu, S;
Kinsler, VA;
(2017)
The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics.
[Letter].
British Journal of Dermatology
, 176
(5)
pp. 1385-1387.
10.1111/bjd.15260.
|
Polubothu, S;
McGuire, N;
Al-Olabi, L;
Baird, W;
Bulstrode, N;
Chalker, J;
Josifova, D;
... Kinsler, VA; + view all
(2019)
Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.
British Journal of Dermatology
10.1111/bjd.18106.
(In press).
|
Polubothu, S;
Scott, RH;
Vabres, P;
Kinsler, VA;
(2017)
Atypical dermal melanocytosis: A diagnostic clue in constitutional mismatch repair deficiency syndrome.
British Journal of Dermatology
10.1111/bjd.15532.
(In press).
|
Polubothu, S;
Zecchin, D;
Al-Olabi, L;
Lionarons, DA;
Harland, M;
Horswell, S;
Thomas, AC;
... Kinsler, VA; + view all
(2021)
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Genetics in Medicine
10.1038/s41436-021-01204-y.
(In press).
|
Riachi, Melissa;
Polubothu, Satyamaanasa;
Stadnik, Paulina;
Hughes, Connor;
Martin, Sara Barberan;
Charman, Carolyn R;
Cheng, Iek Leng;
... Kinsler, Veronica A; + view all
(2021)
Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy.
[Letter].
Journal of Investigative Dermatology
, 141
(12)
2979-2983.e1.
10.1016/j.jid.2021.02.765.
|
Sliepka, JM;
McGriff, SC;
Rossetti, LZ;
Bizargity, P;
Streff, H;
Lee, Y-S;
Dai, H;
... Marafi, D; + view all
(2019)
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.
Neurology Genetics
, 5
(6)
, Article e366. 10.1212/NXG.0000000000000366.
|
Thomas, AC;
Heux, P;
Santos, C;
Arulvasan, W;
Solanky, N;
Carey, ME;
Gerrelli, D;
... Etchevers, HC; + view all
(2018)
Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.
Birth Defects Research
, 110
(5)
pp. 443-455.
10.1002/bdr2.1183.
|
Thomas, AC;
Zeng, Z;
Rivière, JB;
O'Shaughnessy, R;
Al-Olabi, L;
St-Onge, J;
Atherton, DJ;
... Kinsler, VA; + view all
(2016)
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Journal of Investigative Dermatology
, 136
(4)
pp. 770-778.
10.1016/j.jid.2015.11.027.
|
Vabres, P;
Sorlin, A;
Kholmanskikh, SS;
Demeer, B;
St-Onge, J;
Duffourd, Y;
Kuentz, P;
... Riviere, J-B; + view all
(2019)
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nature Genetics
, 51
pp. 1438-1441.
10.1038/s41588-019-0498-4.
|
Waelchi, R;
Williams, J;
Cole, T;
Dattani, M;
Hindmarsh, P;
Kennedy, H;
Martinez, A;
... Kinsler, V; + view all
(2015)
Growth and hormonal profiling in children with congenital melanocytic naevi.
British Journal of Dermatology
, 173
pp. 1471-1478.
10.1111/bjd.14091.
|
Waelchli, R;
Aylett, SE;
Atherton, D;
Thompson, DJ;
Chong, WK;
Kinsler, VA;
(2015)
Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome.
British Journal of Dermatology
, 173
(3)
pp. 739-750.
10.1111/bjd.13898.
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Waelchli, R;
Aylett, SE;
Robinson, K;
Chong, WK;
Martinez, AE;
Kinsler, VA;
(2014)
New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk.
British Journal of Dermatology
, 171
(4)
861 - 867.
10.1111/bjd.13203.
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Zecchin, Davide;
Knöpfel, Nicole;
Gluck, Anna K;
Stevenson, Mark;
Sauvadet, Aimie;
Polubothu, Satyamaanasa;
Barberan-Martin, Sara;
... Kinsler, Veronica A; + view all
(2023)
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Journal of Investigative Dermatology
10.1016/j.jid.2023.08.028.
(In press).
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Zhou, J;
Azizan, EAB;
Cabrera, CP;
Fernandes-Rosa, FL;
Boulkroun, S;
Argentesi, G;
Cottrell, E;
... Brown, MJ; + view all
(2021)
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Nature Genetics
, 53
pp. 1360-1372.
10.1038/s41588-021-00906-y.
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Zolkwer, Morgan B;
Whitehouse, Jodi;
Sanderson, Saskia C;
Kinsler, Veronica A;
(2023)
Impact of public exhibition on the perception of birthmarks.
Pediatric Dermatology
10.1111/pde.15315.
(In press).
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Book chapter
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Hart, SL;
Walker, AJ;
(2019)
New Genetic Approaches to Treating Diseases of the Skin.
In: Hoeger, PH and Kinsler, V and Yan, AC and Harper, J and Oranje, AP and Bodemer, C and Larralde, M and luk, D and Mendiratta, V and Purvis, D, (eds.)
Harper's Textbook of Pediatric Dermatology, 2 Volume Set.
Wiley-Blackwell
(In press).
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Conference item
Al-Olabi, L;
Polubothu, S;
Dowsett, K;
Andrews, KA;
Stadnik, P;
Joseph, AP;
Knox, R;
... Kinsler, VA; + view all
(2017)
C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition.
Presented at: Great Ormond Street Hospital Conference, London, UK.
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Thesis
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Baird, William;
(2019)
Genetic therapy for congenital melanocytic naevi.
Doctoral thesis (Ph.D), UCL (University College London).
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Kinsler, VA;
(2012)
Studies of congenital melanocytic naevi.
Doctoral thesis , UCL (University College London).
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