Publications by authors named "Eli Sprecher"

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Expanding the Phenotypic Spectrum of PIK3CA-Related Disorders.
Janan Mohamad, Ofer Sarig, Mor Pavlovsky, Alon Peled, Sari Assaf, Eli Sprecher

Int J Dermatol· December 2025

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Potent neutralization by antibodies targeting the MPXV A28 protein.
Ron Yefet, Leandro Battini, Mathieu Hubert, Katya Rakayev, Florence Guivel-Benhassine, Eli Sprecher

Nat Commun· December 2025

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Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients.
Fiona Haxho, Richard M Haber, Janan Mohamad, Ofer Sarig, Eli Sprecher

Pediatr Dermatol· November 2025

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Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia.
Noy Keller-Rosenthal, Ofer Sarig, Moshe Giladi, Kiril Malovitski, Rotem Rubinstein, Eli Sprecher

J Invest Dermatol· November 2025

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Darier Disease is a Syndromic Epidermal Differentiation Disorder: reply from authors.
Angela Hernández-Martín, Amy Paller, Eli Sprecher, Matthias Schmuth,

Br J Dermatol· November 2025

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Child and Family Characteristics Associated With Age of Autism Spectrum Disorder Diagnosis in a Primary Care Population.
Corinna J Rea, Kayla Lesch, Barbara Hernandez, Eli Sprecher, Marissa Hauptman

J Dev Behav Pediatr· October 2025

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Standardized Indirect Immunofluorescence-Based Detection of Dermal-Binding Autoantibodies in Pemphigoid Diseases: a prospective international multicentre study.
Sabrina Patzelt, Rengin Melis Engin, Kossara Drenovska, Charlotte Kiehne, Christian Probst, Eli Sprecher

Br J Dermatol· October 2025

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Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
Amy S Paller, Joyce Teng, Juliette Mazereeuw-Hautier, Ángela Hernández-Martín, Céline Granier Tournier, Eli Sprecher

Br J Dermatol· September 2025

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Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
Masashi Akiyama, Keith Choate, Ángela Hernández-Martín, Mandy Aldwin-Easton, Christine Bodemer, Eli Sprecher

Br J Dermatol· September 2025

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Proposing an immune-inclusive lens to the new epidermal differentiation disorders classification: reply from authors.
Ángela Hernández-Martín, Amy S Paller, Eli Sprecher, Masashi Akiyama, Juliette Mazereeuw-Hautier

Br J Dermatol· September 2025

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The Importance of Shared Patient Voices in Advancing Science for Genodermatoses on a Global Scale.
Fauve C A P van Veen, Eli Sprecher, Janice Schwartz, Tom Baker, Edel A O'Toole

J Invest Dermatol· September 2025

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New gene-based classification of ichthyoses and palmoplantar keratodermas: Hereditary epidermal differentiation disorders.
Amy S Paller, Masashi Akiyama, Ángela Hernández-Martín, Juliette Mazereeuw-Hautier, Eli Sprecher

J Am Acad Dermatol· September 2025

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Reduction in Dressing Change Burden in Patients With Epidermolysis Bullosa-Impact of Oleogel-S10.
Anna L Bruckner, Dédée Murrell, Lara Wine Lee, Eli Sprecher, Dimitra Kiritsi

J Dermatol· September 2025

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Methodological Concerns in the EASE Study of Oleogel-S10 for Epidermolysis Bullosa: reply from authors.
Dédée F Murrell, Christine Bodemer, Anna L Bruckner, Tracy Cunningham, Charles Davis, Eli Sprecher

Br J Dermatol· September 2025

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Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.
Emily Mira Warshauer, Paul A Maier, Goran Runfeldt, Ignacia Fuentes, Maria José Escamez, Eli Sprecher

J Med Genet· September 2025

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Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
Eli Sprecher, Akemi Ishida-Yamamoto, Janice Schwartz, Masashi Akiyama, Mandy Aldwin-Easton

Br J Dermatol· August 2025

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A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders.
Ángela Hernández-Martín, Amy S Paller, Eli Sprecher, Masashi Akiyama, Céline Granier Tournier

Br J Dermatol· August 2025

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Comment on 'A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders': reply from authors.
Ángela Hernández-Martín, Amy S Paller, Eli Sprecher, Masashi Akiyama, Antoni Gostynski

Br J Dermatol· August 2025

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Loss-of-function variants in DUSP1 encoding dual specificity phosphatase 1 cause palmoplantar keratoderma.
Kiril Malovitski, Yarden Feller, Moshe Giladi, Ajit B Janagond, Namratha Shivaraj, Eli Sprecher

Br J Dermatol· August 2025

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Real-World Efficacy and Safety of Dupilumab for Atopic Dermatitis in the Israeli Population.
Raz Tshuva, David Bomze, Eli Sprecher, Liat Samuelov

Int J Dermatol· July 2025

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Management of congenital ichthyoses: guidelines of care: Part one: 2024 update.
Juliette Mazereeuw-Hautier, Amy S Paller, Isabelle Dreyfus, Eli Sprecher, Edel O'Toole

Br J Dermatol· June 2025

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Management of congenital ichthyoses: guidelines of care: Part two: 2024 update.
Juliette Mazereeuw-Hautier, Amy S Paller, Edel O'Toole, Isabelle Dreyfus, Christine Bodemer, Eli Sprecher

Br J Dermatol· June 2025

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Long-term safety and efficacy of Oleogel-S10 (birch bark extract) in epidermolysis bullosa: 24-month results from the phase III EASE study.
Dédée F Murrell, Christine Bodemer, Anna L Bruckner, Tracy Cunningham, Charles Davis, Eli Sprecher

Br J Dermatol· May 2025

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HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.
Shir Bergson, Ofer Sarig, Moshe Giladi, Janan Mohamad, Mariana Mogezel-Salem, Eli Sprecher

J Exp Med· May 2025

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Advances in Pemphigus and Pemphigoid: A Report of the International Meeting of the Pemphigus and Pemphigoid Foundation in Thessaloniki, Greece.
Meropi Karakioulaki, Patrick Dunn, Dedee F Murrell, Aimee Payne, Enno Schmidt, Eli Sprecher

JID Innov· March 2025

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