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S. Miskinyte

Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya
2011 · Snaigune Miskinyte, Matthew G. Butler, et al. · The American Journal of Human Genetics · 127
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Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa
2019 · Su M. Lwin, Farhatullah Syed, et al. · JCI Insight · 93
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First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome
2015 · S. Duchatelet, S. Miskinyte, et al. · British Journal of Dermatology · 73
Nicastrin Mutations in French Families with Hidradenitis Suppurativa
2012 · Snaigune Miskinyte, Aude Nassif, et al. · Journal of Investigative Dermatology · 72
Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa
2020 · Sabine Duchatelet, Snaigune Miskinyte, et al. · Journal of Investigative Dermatology · 69
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Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity
2021 · D. Darbord, G. Hickman, et al. · Journal of the European Academy of Dermatology and Venereology · 55
A hereditary moyamoya syndrome with multisystemic manifestations
2010 · D. Hervé, P. Touraine, et al. · Neurology · 47
Successful treatment of JAK1-associated inflammatory disease
2023 · Antoine Fayand, Véronique Hentgen, et al. · Journal of Allergy and Clinical Immunology · 42
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Remission of refractory pyoderma gangrenosum, severe acne, and hidradenitis suppurativa (PASH) syndrome using targeted antibiotic therapy in 4 patients
2015 · Olivier Join-Lambert, Sabine Duchatelet, et al. · Journal of the American Academy of Dermatology · 38
PASH syndrome (pyoderma gangrenosum, acne and hidradenitis suppurativa): a disease with genetic heterogeneity
2017 · H. Sonbol, S. Duchatelet, et al. · British Journal of Dermatology · 32
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa
2019 · S. Gaucher, S.M. Lwin, et al. · British Journal of Dermatology · 28
Remission of chronic acne fulminans and severe hidradenitis suppurativa with targeted antibiotherapy
2019 · Sabine Duchatelet, Olivier Join-Lambert, et al. · JAAD Case Reports · 17
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SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease
2020 · Anne-Sophie Roy, Snaigune Miskinyte, et al. · Biochimie · 15
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A new nonsense mutation in the POGLUT 1 gene in two sisters with Dowling–Degos disease
2018 · S. Duchatelet, H. Clerc, et al. · Journal of the European Academy of Dermatology and Venereology · 10
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?
2023 · Snaigune Miskinyte, Maïa Delage, et al. · Journal of Clinical Immunology · 6
Clinical characteristics and genetic analysis of 14 patients affected with acne (A) fulminans and hidradenitis suppurativa (SH): ASH syndrome, a new phenotypic entity
2024 · Snaigune Miskinyte, Sabine Duchatelet, et al. · Journal of the American Academy of Dermatology · 2
Is hidradenitis suppurativa more an autoinfection than pure autoinflammation?
2026 · Maïa Delage, Olivier Join-Lambert, et al. · Frontiers in Immunology · 1
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Coexistence d’une acné fulminante et d’une hidrosadénite suppurée : syndrome ASH, une nouvelle entité ?
2014 · S. Duchatelet, S. Miskinyte, et al. · Annales de Dermatologie et de Vénéréologie · 1
Cutaneous T-cell lymphoma in the setting of NIPAL4 -related nonsyndromic epidermal differentiation disorder: three cases
2026 · Quitterie Murat de Montai, Emmanuelle Bourrat, et al. · British Journal of Dermatology
Psoriasis flare-ups in autosomal recessive nonsyndromic epidermal differentiation disorders
2026 · Florence Assan, Snaigune Miskinyte, et al. · British Journal of Dermatology
Annotating rare variants: A challenge that has not been completely resolved
2026 · Snaigune Miskinyte, Clemence Delcour, et al. · Annales d Endocrinologie
Cutaneous T-Cell lymphomas and nEDD (nonsyndromic epidermal differentiation disorders) associated with a novel NIPAL4 variant: 3 cases
2025 · Quitterie Murat de Montai, Emmanuelle Bourrat, et al. · European Journal of Cancer
Genetic basis of hidradenitis suppurativa (acne inversa or Verneuil's disease)
2023 · Snaigune Miskinyte · theses.fr (ABES)
Identification de variants prédits pathogènes de gènes de la réponse antimicrobienne dans l’hidradénite suppurée isolée ou syndromique
2023 · S. Miskinyte, M. Delage-Toriel, et al. · Annales de Dermatologie et de Vénéréologie - FMC
Syndrome ichtyose–prématurité : phénotype adulte et efficacité relative du dupilumab
2023 · S. Berro, G. Hickman, et al. · Annales de Dermatologie et de Vénéréologie - FMC
Works count: 36
Citation count: 728
H-index: 13
I10-index: 14
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