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S. Miskinyte · SciRah

Researcher profile · Semantic Scholar

S. Miskinyte

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S. Miskinyte — researcher profile on SciRah

h-index: 11
Works: 37
Citations: 627

Most-cited papers

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.
S. Miskinyte, M. G. Butler, D. Hervé, C. Sarret +12 more
2011American Journal of Human Genetics124 citations Open access
Semantic Scholar
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
S. Lwin, F. Syed, W. Di, T. Kadiyirire +37 more
2019JCI Insight88 citations Open access
Semantic Scholar
First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome
S. Duchatelet, S. Miskinyte, O. Join-Lambert, M. Ungeheuer +3 more
2015British Journal of Dermatology75 citations
Semantic Scholar
Nicastrin mutations in French families with hidradenitis suppurativa.
S. Miskinyte, A. Nassif, F. Merabtene, M. Ungeheuer +3 more
2012Journal of Investigative Dermatology74 citations Open access
Semantic Scholar
Low prevalence of gamma-secretase complex gene mutations in a large cohort of predominantly Caucasian patients with Hidradenitis Suppurativa.
S. Duchatelet, S. Miskinyte, M. Delage, M. Ungeheuer +23 more
2020Journal of Investigative Dermatology48 citations Open access
Semantic Scholar
A hereditary moyamoya syndrome with multisystemic manifestations
D. Hervé, P. Touraine, Alain Verloes, S. Miskinyte +9 more
2010Neurology40 citations
Semantic Scholar
Remission of refractory pyoderma gangrenosum, severe acne, and hidradenitis suppurativa (PASH) syndrome using targeted antibiotic therapy in 4 patients.
O. Join-Lambert, S. Duchatelet, M. Delage, S. Miskinyte +7 more
2015Journal of American Academy of Dermatology37 citations
Semantic Scholar
PASH syndrome (pyoderma gangrenosum, acne and hidradenitis suppurativa): a disease with genetic heterogeneity
H. Sonbol, S. Duchatelet, S. Miskinyte, B. Bonsang +2 more
2018British Journal of Dermatology35 citations
Semantic Scholar
Successful treatment of JAK1 associated inflammatory disease.
A. Fayand, V. Hentgen, Céline Possémé, C. Lacout +31 more
2023Journal of Allergy and Clinical Immunology32 citations Open access
Semantic Scholar
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa
S. Gaucher, S. Lwin, M. Titeux, A. Abdul-Wahab +9 more
2019British Journal of Dermatology24 citations
Semantic Scholar
Remission of chronic acne fulminans and severe hidradenitis suppurativa with targeted antibiotherapy
S. Duchatelet, O. Join-Lambert, M. Delage, S. Miskinyte +9 more
2019JAAD Case Reports16 citations Open access
Semantic Scholar
SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.
A. Roy, S. Miskinyte, A. Garat, A. Hovnanian +2 more
2020Biochimie9 citations Open access
Semantic Scholar
A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling–Degos disease
S. Duchatelet, H. Clerc, L. Machet, P. Gaboriaud +3 more
2018Journal of the European Academy of Dermatology and Venereology8 citations
Semantic Scholar
First Nicastrin mutation in PASH syndrome
S. Duchatelet, S. Miskinyte, O. Join-Lambert, M. Ungeheuer +3 more
20157 citations
Semantic Scholar
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?
S. Miskinyte, M. Delage, Olivier Join-Lambert, A. Nassif +1 more
2023Journal of Clinical Immunology5 citations
Semantic Scholar
Clinical characteristics and genetic analysis of 14 patients affected with acne fulminans and hidradenitis suppurativa: ASH syndrome, a new phenotypic entity.
S. Miskinyte, S. Duchatelet, M. Delage, Mn Ungeheuer +6 more
2024Journal of American Academy of Dermatology2 citations Open access
Semantic Scholar
Is hidradenitis suppurativa more an autoinfection than pure autoinflammation?
M. Delage, O. Join-Lambert, S. Miskinyte, A. Hovnanian +1 more
2026Frontiers in Immunology1 citations Open access
Semantic Scholar
Pityriasis rubra pilaire familial avec mutation homozygote de CARD14 traité avec succès par ustékinumab
T. Mahévas, S. Duchatelet, S. Miskinyte, H. Bachelez +4 more
20171 citations
Semantic Scholar
Coexistence d’une acné fulminante et d’une hidrosadénite suppurée : syndrome ASH, une nouvelle entité ?
S. Duchatelet, S. Miskinyte, M. Delage, O. Join-Lambert +5 more
20141 citations
Semantic Scholar
Psoriasis flare-ups in non syndromic autosomal recessive epidermal differentiation disorders.
Florence Assan, S. Miskinyte, S. Sylvain, Marie Masson Regnault +7 more
2026British Journal of Dermatology0 citations
Semantic Scholar
Annotating rare variants: a challenge that has not been completely resolved.
S. Miskinyte, Clémence Delcour, R. Makhlouf, S. Fendri +2 more
2026Annales d'Endocrinologie0 citations Open access
Semantic Scholar
Cutaneous T-cell lymphoma in the setting of NIPAL4-related nonsyndromic epidermal differentiation disorder: three cases.
Quitterie Murat de Montai, E. Bourrat, G. Battesti, Geoffroy Hickman +14 more
2026British Journal of Dermatology0 citations
Semantic Scholar
Cutaneous T-Cell lymphomas and nEDD (nonsyndromic epidermal differentiation disorders) associated with a novel NIPAL4 variant: 3 cases
Quitterie Murat de Montai, E. Bourrat, G. Battesti, Geoffroy Hickman +13 more
2025European Journal of Cancer0 citations
Semantic Scholar
Syndrome ichtyose–prématurité : phénotype adulte et efficacité relative du dupilumab
S. Berro, G. Hickman, S. Miskinyte, A. Hovnanian +1 more
2023Annales de Dermatologie et de Vénéréologie - FMC0 citations Open access
Semantic Scholar
A Case Of Malnutrition And Wernicke’s Encephalopathy After Bariatric Surgery
D. Petrauskiene, E. Gavelienė, G. Babravičienė, S. Miskinyte +1 more
2023Clinical Nutrition ESPEN0 citations
Semantic Scholar
Identification de variants prédits pathogènes de gènes de la réponse antimicrobienne dans l’hidradénite suppurée isolée ou syndromique
S. Miskinyte, M. Delage-Toriel, O. Join-Lambert, A. Spaan +6 more
2023Annales de Dermatologie et de Vénéréologie - FMC0 citations
Semantic Scholar
Scléroatrophie d’Huriez due à de nouveaux variants du gène SMARCAD1 dans 2 familles
S. Miskinyte, J. Basset, N. M. B. de Almeida e Silva, D. Bessis +1 more
2022Annales de Dermatologie et de Vénéréologie - FMC0 citations Open access
Semantic Scholar
183 Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity
D. Darbord, G. Hickman, N. Pironon, C. Barbieux +5 more
2021Journal of Investigative Dermatology0 citations Open access
Semantic Scholar
Remission of chronic acne fulminans and severe hidradenitis suppurativa with targeted antibiotherapy [case report]
S. Duchatelet, O. Join-Lambert, M. Delage, S. Miskinyte +6 more
20200 citations
Semantic Scholar
Maladie de Dowling-Degos et hidradénite suppurée : 2 nouveaux cas associés à une mutation de PSENEN
S. Duchatelet, S. Miskinyte, S. Fraitag, M. Delage +3 more
20170 citations
Semantic Scholar
237 Diagnostic challenge of compound heterozygosity for dominant and recessive COL7A1 mutations in dystrophic epidermolysis bullosa
S. Duchatelet, N. Pironon, S. Miskinyte, M. Titeux +2 more
20170 citations Open access
Semantic Scholar
227 Patient pre-selection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa
S. Lwin, S. Gaucher, M. Titeux, A. Abdul-Wahab +6 more
20170 citations Open access
Semantic Scholar
Rémission clinique et suivi prolongés de 12 patients initialement inopérables avec hidrosadénite suppurée sévère grâce à un traitement antimicrobien prolongé
M. Delage-Toriel, S. Duchatelet, H. Coignard, S. Miskinyte +6 more
20150 citations
Semantic Scholar
Rémission d’une acné fulminante sous traitement antibiotique prescrit pour une hidrosadénite suppurée
O. Join-Lambert, S. Duchatelet, S. Miskinyte, M. Delage +5 more
20140 citations
Semantic Scholar
Rémission de 3 patients PASH sous combinaison antibio-chirurgicale
O. Join-Lambert, H. Coignard, S. Miskinyte, M. Delage +4 more
20130 citations
Semantic Scholar
Rémission d’une cellulite disséquante du cuir chevelu associée à une hidrosadénite suppurée sous antibiothérapie combinée
M. Delage, O. Join-Lambert, S. Miskinyte, H. Coignard +4 more
20130 citations
Semantic Scholar
Genetic basis of hidradenitis suppurativa (acne inversa or Verneuil's disease)
S. Miskinyte
0 citations
Semantic Scholar

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