Yanick J. Crow

Laboratory of Neurogenetics and Neuroinflammation, institut imagine

Affiliated withinstitut imagine University of Manchester

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 10	2018

Other Publications

Article	Year
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nature genetics\| PubMed ID: 16845398	2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nature genetics\| PubMed ID: 16845400	2006
Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection. Developmental medicine and child neurology\| PubMed ID: 18422679	2008
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Human molecular genetics\| PubMed ID: 19808788	2009
The story of DNase II: a stifled death-wish leads to self-harm. European journal of immunology\| PubMed ID: 20706989	2010
Lupus: how much "complexity" is really (just) genetic heterogeneity? Arthritis and rheumatism\| PubMed ID: 22127688	2011
Type I interferonopathies: a novel set of inborn errors of immunity. Annals of the New York Academy of Sciences\| PubMed ID: 22129056	2011
Aicardi-Goutières syndrome. Handbook of clinical neurology\| PubMed ID: 23622384	2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet neurology\| PubMed ID: 24183309	2013
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics\| PubMed ID: 25243380	2014
Mutations in CECR1 associated with a neutrophil signature in peripheral blood. Pediatric rheumatology online journal\| PubMed ID: 25278816	2014
Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration. Pediatric neurology\| PubMed ID: 25301227	2014
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. The Journal of clinical investigation\| PubMed ID: 25401470	2014
Type I interferonopathies: mendelian type I interferon up-regulation. Current opinion in immunology\| PubMed ID: 25463593	2015
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. Journal of child neurology\| PubMed ID: 25535058	2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. American journal of medical genetics. Part A\| PubMed ID: 25604658	2015
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis. JAMA dermatology\| PubMed ID: 25992765	2015
Neuromyelitis optica in a child with Aicardi-Goutières syndrome. Neurology\| PubMed ID: 26136517	2015
Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis. Pediatrics\| PubMed ID: 26216333	2015
Novel monogenic diseases causing human autoimmunity. Current opinion in immunology\| PubMed ID: 26262888	2015
cGMP-AMP synthase paves the way to autoimmunity. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 26450878	2015
ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells. PloS one\| PubMed ID: 26629815	2015
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. Journal of clinical immunology\| PubMed ID: 26951490	2016
A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus. Genes & development\| PubMed ID: 27013236	2016
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. Journal of clinical immunology\| PubMed ID: 27125509	2016
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus. Arthritis & rheumatology (Hoboken, N.J.)\| PubMed ID: 27390188	2017
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature genetics\| PubMed ID: 27571260	2016
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. Neuropediatrics\| PubMed ID: 27643693	2016
JAK inhibition in STING-associated interferonopathy. Annals of the rheumatic diseases\| PubMed ID: 27733349	2016
Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118. Journal of the neurological sciences\| PubMed ID: 27793341	2017
Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview. The Journal of experimental medicine\| PubMed ID: 27821552	2016
Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease. Journal of clinical immunology\| PubMed ID: 27943079	2017
Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus. Joint, bone, spine : revue du rhumatisme\| PubMed ID: 28039062	2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling. The Journal of allergy and clinical immunology\| PubMed ID: 28087229	2017
Detection of interferon alpha protein reveals differential levels and cellular sources in disease. The Journal of experimental medicine\| PubMed ID: 28420733	2017
Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab. Pediatric neurology\| PubMed ID: 28424147	2017
Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells. Arthritis & rheumatology (Hoboken, N.J.)\| PubMed ID: 28426911	2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Neuropediatrics\| PubMed ID: 28561207	2017
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy. Arthritis & rheumatology (Hoboken, N.J.)\| PubMed ID: 28605144	2017
Polymorphisms in IFIH1: the good and the bad. Nature immunology\| PubMed ID: 28632717	2017
Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation. Cell stem cell\| PubMed ID: 28803918	2017
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. Journal of clinical immunology\| PubMed ID: 29226301	2018
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. Journal of clinical immunology\| PubMed ID: 29226302	2018
Type I interferon-mediated autoinflammation due to DNase II deficiency. Nature communications\| PubMed ID: 29259162	2017
Sort Your Self Out! Cell\| PubMed ID: 29425484	2018
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Human mutation\| PubMed ID: 29782060	2018