Pagnamenta Alistair T - National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford

Laura M Watts,Esther Kinning, Donald R Latner, Marla Johnston, Jessica Patrick-Esteve, Gregory M Cooper, Stephen R F Twigg,Alistair T Pagnamenta,Jenny C Taylor

Clinical genetics (2025)

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A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated with Cleidocranial Dysplasia

Alistair T. Pagnamenta,Mona Hashim,Joanna Kennedy, Beth Lawton,Amaka C. Offiah,Jenny C. Taylor,Sarah F. Smithson

CLINICAL GENETICS (2025)

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Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: an Exploratory Study

Marco Foddis,Sonja Blumenau,Susanne Mueller,Clemens Messerschmidt,Clarissa Rocca,Alistair T Pagnamenta,Katarzyna Winek,Matthias Endres,Andreas Meisel,Arianna Tucci,Jose Bras,Rita Guerreiro,Dieter Beule,Ulrich Dirnagl,Celeste Sassi

Strokeno. 3 (2025): 725-736

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Improving the Genetic Characterization in a Cohort of HSP Patients Recruited to the 100'000 Genomes Project by Combing Whole Genome Sequencing and Novel Bioinformatic Tools

Delia Gagliardi, Chris Clarkson, Ainara Salazar Villacorta,Alistair Pagnamenta,Jing Yu,Henry Houlden,Arianna Tucci

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Biallelic NAA60 Variants with Impaired N-terminal Acetylation Capacity Cause Autosomal Recessive Primary Familial Brain Calcifications

Viorica Chelban,Henriette Aksnes,Reza Maroofian,Lauren C. LaMonica,Luis Seabra, Anette Siggervåg,Perrine Devic,Hanan E. Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M. Natalia Zanetti,Rauan Kaiyrzhanov,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V. Schottlaender,Heba Morsy,Annarita Scardamaglia,Ambreen Tariq,Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella,Nina Glomnes,Kirsten M. Brønstad,Sandrine Tury,Andrés Moreno De Luca,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim,Benjamin Cretin,Barbara Vona, Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller,Sahar I. Da’as,Khalid A. Fakhro,Alicia Gómez-Pascual,Juan A. Botía,Nicholas W. Wood,Rita Horvath,Andreas M. Ernst,James E. Rothman,Meriel McEntagart,Yanick J. Crow,Fowzan S. Alkuraya,Gaël Nicolas,Henry Houlden,Thomas Arnesen

NATURE COMMUNICATIONSno. 1 (2024)

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