Publications by authors named "Yanick Crow"

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Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).
Lisa Zerad, Blaise Didry-Barca, Céline Banal, Brigitte Onteniente, Nathalie Lefort, Yanick J Crow

Stem Cell Res· December 2025

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Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.
Clémence David, Nadia Nathan, Eslam Al-Abadi, Peter D Arkwright, Brigitte Bader-Meunier, Yanick J Crow

Ann Rheum Dis· October 2025

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Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.
Callie C Y Wong, Tifenn Wauquier, Carolina Uggenti, Colin Stok, Alice Lepelley, Yanick J Crow

J Hum Immun· July 2025

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Elevated serum interferon-α2 associates with activity and flare risk in juvenile-onset systemic lupus erythematosus.
Valentina Natoli, Yanick J Crow, David P J Hunt, Kukatharmini Tharmaratnam, Andrea L Jorgensen

Rheumatology (Oxford)· June 2025

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Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial.
Yanick J Crow, Tracy A Briggs, Despina Eleftheriou, Amitav Parida, Claire Battison

Dev Med Child Neurol· June 2025

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Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.
Timothy F Spracklen, Shehnaaz Akhalwaya, Sally Ackermann, Carolina Uggenti, Luis Seabra, Yanick J Crow

Am J Med Genet A· May 2025

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Distinct pathogenic mutations in ARF1 allow dissection of its dual role in cGAS-STING signalling.
Johannes Lang, Tim Bergner, Julia Zinngrebe, Alice Lepelley, Katharina Vill, Yanick J Crow

EMBO Rep· May 2025

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Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling.
Nic Robertson, Aakash Joshi, Francesca Ritchie, Ina Schim van der Loeff, David Royan, Yanick J Crow

Eur J Immunol· May 2025

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Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Gaofeng Zhu, Blaise Didry-Barca, Luis Seabra, Gillian I Rice, Carolina Uggenti, Yanick J Crow

Lancet Neurol· March 2025

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Clinical experimental medicine in the UK.
Yanick J Crow

Brain· January 2025

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A Rare Genetic Cause of Spastic Paraparesis.
Shakya Bhattacharjee, Rekha Siripurapu, Andrew Swale, Yanick J Crow, Christopher Kobylecki

Neurology· December 2024

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CNS disease associated with enhanced type I interferon signalling.
Yanick J Crow

Lancet Neurol· November 2024

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MDA5 gain-of-function associated with a Glu794del mutation.
Callie Wong, Lukas Gerasimavicius, Yanick J Crow, Carolina Uggenti,

J Clin Immunol· October 2024

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Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Jonathan Bohlen, Ivan Bagarić, Taja Vatovec, Masato Ogishi, Syed F Ahmed, Yanick J Crow

J Clin Invest· October 2024

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Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party.
Helena Buso, Etai Adam, Peter D Arkwright, Sagar Bhattad, Amir Ali Hamidieh, Yanick J Crow

J Clin Immunol· October 2024

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Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Abraham Shim, Xiaohan Luan, Wen Zhou, Yanick J Crow, John Maciejowski

Hum Mol Genet· September 2024

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Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
Clémence David, Carlos A Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I Rice, Yanick J Crow

J Exp Med· August 2024

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Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
Clément Triaille, Neha Mohan Rao, Gillian I Rice, Luis Seabra, Fraser J H Sutherland, Yanick J Crow

J Clin Immunol· August 2024

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The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies.
Barney Viengkhou, Emina Hayashida, Sarah McGlasson, Katie Emelianova, Deborah Forbes, Yanick J Crow

Immunity· July 2024

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Human life within a narrow range: The lethal ups and downs of type I interferons.
Yanick J Crow, Jean-Laurent Casanova

Sci Immunol· July 2024

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A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.
Jarmila Stremenova Spegarova, Praisoody Sinnappurajar, Dalila Al Julandani, Rokas Navickas, Helen Griffin, Yanick Crow

J Clin Invest· May 2024

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NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
Stefania Della Vecchia, Alessandra Tessa, Rosa Pasquariello, Luis Seabra, Yanick J Crow

Int J Mol Sci· March 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, Yanick J Crow

Nat Commun· March 2024

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Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
Clémence David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Yanick J Crow

J Clin Immunol· February 2024

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Phenotypes associated with genetic determinants of type I interferon regulation in the UK Biobank: a protocol.
Bastien Rioux, Michael Chong, Rosie Walker, Sarah McGlasson, Kristiina Rannikmäe, Yanick J Crow

Wellcome Open Res· November 2023

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