Publications by authors named "Pierre Schaefer"

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Large Eczema Area and Severity Index response at 2-year follow-up of patients treated with dupilumab in routine care of atopic dermatitis: results from the national registry TREATgermany.
Luise Heinrich, Thomas Birkner, Susanne Abraham, Sascha Gerdes, Tatjana Honstein, Thomas Schaefer

Skin Health Dis· December 2025

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Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol.
Nhat Minh Do, Pierre Klienkoff, Anne de Saint Martin, Alexandra Jimenez-Armijo, Elise Schaefer

BMC Oral Health· July 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Elise Schaefer

Nat Genet· June 2025

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Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.
Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Elise Schaefer

Orphanet J Rare Dis· June 2025

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Severe alpha-1 antitrypsin deficiency is associated with a higher risk of complications after first decompensation than other aetiologies of cirrhosis.
Lorenz Balcar, Malin Fromme, Naomi Kappe, Benedikt Schaefer, Soňa Fraňková

JHEP Rep· June 2025

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Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Alexis Hermida, Guillaume Jedraszak, Flavie Ader, Isabelle Denjoy, Véronique Fressart, Elise Schaefer

Heart Rhythm· March 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Elise Schaefer

ArXiv· February 2025

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Efficacy and safety of the oral Janus kinase 3/tyrosine kinase expressed in hepatocellular carcinoma family kinase inhibitor ritlecitinib over 24 months: integrated analysis of the ALLEGRO phase IIb/III and long-term phase III clinical studies in alopecia areata.
Melissa Piliang, Jennifer Soung, Brett King, Jerry Shapiro, Lidia Rudnicka, Gregor Schaefer

Br J Dermatol· January 2025

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High-dose MTX-based polychemotherapy for primary CNS lymphoma in younger patients: Long-term efficacy of the modified Bonn protocol.
Thomas Zeyen, Johannes Weller, Matthias Schneider, Anna-Laura Potthoff, Christina Schaub, Niklas Schaefer

Neurooncol Adv· January 2025

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A Phase I First-in-Human Study of ABBV-011, a Seizure-Related Homolog Protein 6-Targeting Antibody-Drug Conjugate, in Patients with Small Cell Lung Cancer.
Daniel Morgensztern, Neal Ready, Melissa L Johnson, Afshin Dowlati, Noura Choudhury, Eric Schaefer

Clin Cancer Res· November 2024

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Spartalizumab in combination with platinum-doublet chemotherapy with or without canakinumab in patients with PD-L1-unselected, metastatic NSCLC.
Armando Santoro, Garrido Pilar, Daniel S W Tan, Jon Zugazagoitia, Frances A Shepherd, Eric S Schaefer

BMC Cancer· October 2024

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Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.
Bérénice Hebrard, Marie-Lise Babonneau, Philippe Charron, Emilie Consolino, Benjamin Dauriat, Elise Schaefer

Orphanet J Rare Dis· October 2024

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Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A  Primary Immune Deficiency Treatment Consortium study.
Eyal Grunebaum, Danielle E Arnold, Brent Logan, Suhag Parikh, Rebecca A Marsh, Edo Schaefer

J Allergy Clin Immunol· May 2024

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Impact of Risk Factors on COVID-19 Outcomes in Unvaccinated People With Rheumatic Diseases: A Comparative Analysis of Pandemic Epochs Using the COVID-19 Global Rheumatology Alliance Registry.
Jinoos Yazdany, Anna Ware, Zachary S Wallace, Suleman Bhana, Rebecca Grainger, Martin Schaefer

Arthritis Care Res (Hoboken)· February 2024

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Cell and Molecular Physiology Section of the American Physiological Society in connection with .
Liliana Schaefer, Sandrine V Pierre

Am J Physiol Cell Physiol· July 2023

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Association Between Race/Ethnicity and COVID-19 Outcomes in Systemic Lupus Erythematosus Patients From the United States: Data From the COVID-19 Global Rheumatology Alliance.
Manuel F Ugarte-Gil, Graciela S Alarcón, Andrea M Seet, Zara Izadi, Anna D Montgomery, Martin Schaefer

Arthritis Care Res (Hoboken)· January 2023

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Combined targeting of soluble latent TGF-ß and a solid tumor-associated antigen with adapter CAR T cells.
Niels Werchau, Bettina Kotter, Elvira Criado-Moronati, Andre Gosselink, Nicole Cordes, Daniel Schaefer

Oncoimmunology· November 2022

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Control strategy definition for a drug product continuous wet granulation process: Industrial case study.
Pierre-François Chavez, Fanny Stauffer, Frédéric Eeckman, Nils Bostijn, David Didion, Cédric Schaefer

Int J Pharm· August 2022

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Safety and Efficacy of Ipilimumab plus Nivolumab and Sequential Selective Internal Radiation Therapy in Hepatic and Extrahepatic Metastatic Uveal Melanoma.
Veronica Aedo-Lopez, Camille L Gérard, Sarah Boughdad, Bianca Gautron Moura, Gregoire Berthod, Niklaus Schaefer

Cancers (Basel)· February 2022

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Outcomes of COVID-19 in patients with primary systemic vasculitis or polymyalgia rheumatica from the COVID-19 Global Rheumatology Alliance physician registry: a retrospective cohort study.
Sebastian E Sattui, Richard Conway, Michael S Putman, Andrea M Seet, Milena A Gianfrancesco, Martin Schaefer

Lancet Rheumatol· December 2021

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Injectable silanized hyaluronic acid hydrogel/biphasic calcium phosphate granule composites with improved handling and biodegradability promote bone regeneration in rabbits.
Killian Flegeau, Olivier Gauthier, Gildas Rethore, Florent Autrusseau, Aurélie Schaefer

Biomater Sci· August 2021

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Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Laura Mary, Elsa Nourisson, Claire Feger, Vincent Laugel, Denys Chaigne, Elise Schaefer

Am J Med Genet A· June 2021

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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).
Daniel J Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, Mahmoud Abdellatif, Asghar Abdoli, Liliana Schaefer

Autophagy· January 2021

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Elise Schaefer

Brain· December 2020

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Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network.
G D Demetri, C R Antonescu, B Bjerkehagen, J V M G Bovée, K Boye, I-M Schaefer

Ann Oncol· November 2020

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