Clinical non-penetrance associated with biallelic mutations in the RNase H2 complex

gan Crow, Yanick J
Cyhoeddwyd yn J Clin Immunol (2023)

CNS disease associated with enhanced type 1 interferon signalling

gan Crow, Yanick J
Cyhoeddwyd yn Lancet Neurol (2024)

Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

gan Crow, Yanick J., Rehwinkel, Jan
Cyhoeddwyd 2009

cGMP-AMP synthase paves the way to autoimmunity

gan Rodero, Mathieu P., Crow, Yanick J.
Cyhoeddwyd yn Proc Natl Acad Sci U S A (2015)

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

gan Rodero, Mathieu P., Crow, Yanick J.
Cyhoeddwyd yn J Exp Med (2016)

Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations

gan du Moulin, Marcel, Nürnberg, Peter, Crow, Yanick J., Rutsch, Frank
Cyhoeddwyd 2011

MDA5-Associated Neuroinflammation and the Singleton–Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

gan Buers, Insa, Rice, Gillian I., Crow, Yanick J., Rutsch, Frank
Cyhoeddwyd yn J Interferon Cytokine Res (2017)

Familial Blau syndrome: First molecularly confirmed report from India

gan Janarthanan, Mahesh, Poddar, Chanchal, Sudharshan, S, Seabra, Luis, Crow, Yanick J
Cyhoeddwyd yn Indian J Ophthalmol (2019)

Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome

gan Hacohen, Yael, Zuberi, Sameer, Vincent, Angela, Crow, Yanick J., Cordeiro, Nuno
Cyhoeddwyd yn Neurology (2015)

Teaching NeuroImages: A rare genetic cause of spastic paraparesis

gan Bhattacharjee, Shakya, Siripurapu, Rekha, Swale, Andrew, Crow, Yanick J, Kobylecki, Christopher
Cyhoeddwyd yn Neurology (2024)

Development and Validation of an Ultrasensitive Single Molecule Array Digital Enzyme-linked Immunosorbent Assay for Human Interferon-α

gan Llibre, Alba, Bondet, Vincent, Rodero, Mathieu P., Hunt, David, Crow, Yanick J., Duffy, Darragh
Cyhoeddwyd yn J Vis Exp (2018)

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab

gan Fay, Alex J., King, Allison A., Shimony, Joshua S., Crow, Yanick J., Brunstrom-Hernandez, Jan E.
Cyhoeddwyd yn Pediatr Neurol (2017)

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

gan Banka, Siddharth, Chervinsky, Elena, Newman, William G, Crow, Yanick J, Yeganeh, Shay, Yacobovich, Joanne, Donnai, Dian, Shalev, Stavit
Cyhoeddwyd 2011

Crossover trial of reverse transcriptase inhibitors in Aicardi-Goutières syndrome

gan Crow, Yanick J, Briggs, Tracy A, Eleftheriou, Despina, Parida, Amitav, Battison, Claire, Giddings, Annabel, Kennel, Titouan, Parker, Richard A
Cyhoeddwyd yn Dev Med Child Neurol (2024)

A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31

gan Pattison, Lisa, Crow, Yanick J., Deeble, V. Jayne, Jackson, Andrew P., Jafri, Hussain, Rashid, Yasmin, Roberts, Emma, Woods, C. Geoffrey
Cyhoeddwyd 2000

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

gan Takai, Hiroyuki, Jenkinson, Emma, Kabir, Shaheen, Babul-Hirji, Riyana, Najm-Tehrani, Nasrin, Chitayat, David A., Crow, Yanick J., de Lange, Titia
Cyhoeddwyd yn Genes Dev (2016)

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

gan Eckard, Sterling C., Rice, Gillian I., Fabre, Alexandre, Badens, Catherine, Gray, Elizabeth E., Hartley, Jane L., Crow, Yanick J., Stetson, Daniel B.
Cyhoeddwyd 2014

Elevated serum interferon-α2 associates with activity and flare risk in Juvenile-onset Systemic Lupus Erythematosus

gan Natoli, Valentina, Crow, Yanick J, Hunt, David PJ, Tharmaratnam, Kukatharmini, Jorgensen, Andrea L, Beresford, Michael W, Hedrich, Christian M, Smith, Eve MD
Cyhoeddwyd yn Rheumatology (Oxford) (2024)

Modeling of TREX1-dependent autoimmune disease using human stem cells highlights L1 accumulation as a source of neuroinflammation

gan Thomas, Charles A., Tejwani, Leon, Trujillo, Cleber A., Negraes, Priscilla D., Herai, Roberto H., Mesci, Pinar, Macia, Angela, Crow, Yanick J., Muotri, Alysson R.
Cyhoeddwyd yn Cell Stem Cell (2017)

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

gan La Piana, Roberta, Uggetti, Carla, Roncarolo, Federico, Vanderver, Adeline, Olivieri, Ivana, Tonduti, Davide, Helman, Guy, Balottin, Umberto, Fazzi, Elisa, Crow, Yanick J., Livingston, John, Orcesi, Simona
Cyhoeddwyd yn Neurology (2016)