Publications by authors named "Nicolas Schaefer"

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Elise Schaefer

medRxiv· September 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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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Christel Thauvin-Robinet, Aurore Garde, Maud Favier, Julian Delanne, Caroline Racine, Elise Schaefer

Eur J Hum Genet· May 2025

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GPT-4 as a biomedical simulator.
Moritz Schaefer, Stephan Reichl, Rob Ter Horst, Adele M Nicolas, Thomas Krausgruber

Comput Biol Med· August 2024

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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Élise Schaefer

J Med Genet· August 2024

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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Elise Schaefer

Eur J Hum Genet· February 2024

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Interdisciplinary Swiss consensus recommendations on staging and treatment of advanced prostate cancer.
Arnoud J Templeton, Aurelius Omlin, Dominik Berthold, Jörg Beyer, Irene A Burger, Niklaus Schaefer

Swiss Med Wkly· August 2023

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High-dimensional analysis of 16 SARS-CoV-2 vaccine combinations reveals lymphocyte signatures correlating with immunogenicity.
Nicolás Gonzalo Nuñez, Jonas Schmid, Laura Power, Chiara Alberti, Sinduya Krishnarajah, Maximilian Schaefer

Nat Immunol· June 2023

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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Juliette Coursimault, Kévin Cassinari, François Lecoquierre, Olivier Quenez, Sophie Coutant, Elise Schaefer

Hum Mutat· December 2022

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A systemic mechanism of increased transendothelial migration of leukocytes through the blood-brain barrier in hepatic encephalopathy.
Augustin Schaefer, Martin Journaux, Haquima El Mourabit, Sarah Mouri, Dominique Wendum

Clin Res Hepatol Gastroenterol· March 2022

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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Juliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, Catherine Schramm, Francisca Millan Zamora, Elise Schaefer

Hum Genet· January 2022

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Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Aurore Garde, Jenny Cornaton, Arthur Sorlin, Sébastien Moutton, Claire Nicolas, Elise Schaefer

Clin Genet· March 2021

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Oncogenetics and minimal residual disease are independent outcome predictors in adult patients with acute lymphoblastic leukemia.
Kheira Beldjord, Sylvie Chevret, Vahid Asnafi, Françoise Huguet, Marie-Laure Boulland, Beat Schaefer

Blood· June 2014

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Search for tb resonances in proton-proton collisions at √s=7 TeV with the ATLAS detector.
G Aad, B Abbott, J Abdallah, S Abdel Khalek, A A Abdelalim, D Schaefer

Phys Rev Lett· August 2012

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Search for pair production of a new b' quark that decays into a Z boson and a bottom quark with the ATLAS detector.
G Aad, B Abbott, J Abdallah, S Abdel Khalek, A A Abdelalim, D Schaefer

Phys Rev Lett· August 2012

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Measurement of polarization in → decays with the ATLAS detector in collisions at [Formula: see text].

Eur Phys J C Part Fields· July 2012

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Measurement of [Formula: see text] production with a veto on additional central jet activity in collisions at [Formula: see text] TeV using the ATLAS detector.

Eur Phys J C Part Fields· June 2012

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Search for gluinos in events with two same-sign leptons, jets, and missing transverse momentum with the ATLAS detector in pp collisions at sqrt[s]=7  TeV.
G Aad, B Abbott, J Abdallah, S Abdel Khalek, A A Abdelalim, D Schaefer

Phys Rev Lett· June 2012

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Search for supersymmetry in events with three leptons and missing transverse momentum in √[s]=7 TeV pp collisions with the ATLAS detector.
G Aad, B Abbott, J Abdallah, S Abdel Khalek, A A Abdelalim, D Schaefer

Phys Rev Lett· June 2012

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Observation of spin correlation in tt¯ events from pp collisions at √s=7 TeV using the ATLAS detector.
G Aad, B Abbott, J Abdallah, S Abdel Khalek, A A Abdelalim, D Schaefer

Phys Rev Lett· May 2012

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Search for the standard model Higgs boson in the diphoton decay channel with 4.9 fb(-1) of pp collision data at √s=7 TeV with ATLAS.
G Aad, B Abbott, J Abdallah, S Abdel Khalek, A A Abdelalim, D Schaefer

Phys Rev Lett· March 2012

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Concentration and physicochemical characterisation of unsaturated cobalamin binding proteins in amniotic fluid.
J L Guéant, L Hambaba, M Vidailhet, C Schaefer, V Wahlstedt

Clin Chim Acta· May 1989

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