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

Tekijä Crow, Yanick J
Julkaisussa J Clin Immunol (2023)

CNS disease associated with enhanced type 1 interferon signalling

Tekijä Crow, Yanick J
Julkaisussa Lancet Neurol (2024)

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

Tekijä Crow, Yanick J., Rehwinkel, Jan
Julkaistu 2009

cGMP-AMP synthase paves the way to autoimmunity

Tekijä Rodero, Mathieu P., Crow, Yanick J.
Julkaisussa Proc Natl Acad Sci U S A (2015)

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

Tekijä Rodero, Mathieu P., Crow, Yanick J.
Julkaisussa J Exp Med (2016)

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

Tekijä du Moulin, Marcel, Nürnberg, Peter, Crow, Yanick J., Rutsch, Frank
Julkaistu 2011

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

Tekijä Buers, Insa, Rice, Gillian I., Crow, Yanick J., Rutsch, Frank
Julkaisussa J Interferon Cytokine Res (2017)

Familial Blau syndrome: First molecularly confirmed report from India

Tekijä Janarthanan, Mahesh, Poddar, Chanchal, Sudharshan, S, Seabra, Luis, Crow, Yanick J
Julkaisussa Indian J Ophthalmol (2019)

Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome

Tekijä Hacohen, Yael, Zuberi, Sameer, Vincent, Angela, Crow, Yanick J., Cordeiro, Nuno
Julkaisussa Neurology (2015)

Teaching NeuroImages: A rare genetic cause of spastic paraparesis

Tekijä Bhattacharjee, Shakya, Siripurapu, Rekha, Swale, Andrew, Crow, Yanick J, Kobylecki, Christopher
Julkaisussa Neurology (2024)

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

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

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab

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

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

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

Crossover trial of reverse transcriptase inhibitors in Aicardi-Goutières syndrome

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

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

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

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

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

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

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

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

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

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

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

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

Tekijä 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
Julkaisussa Neurology (2016)