Crow, Yanick J.

Aicardi–Goutières syndrome and the type I interferonopathies

Crow, Y. J., & Manel, N. (2015) · Nature Reviews Immunology

interferon and immune responsesInflammasome and immune disorders

Cited by 925

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., et al. (2012) · Nature Genetics

RNA regulation and diseaseinterferon and immune responses

Cited by 923

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

Dhir, A., Dhir, S., Borowski, L. S., Jimenez, L., Teitell, M., Rötig, A., Crow, Y. J., Rice, G. I., Duffy, D., Tamby, C., et al. (2018) · Nature

interferon and immune responsesMitochondrial Function and Pathology

Cited by 631

ASPM is a major determinant of cerebral cortical size

Bond, J., Roberts, E., Mochida, G. H., Hampshire, D. J., Scott, S., Askham, J. M., Springell, K., Mahadevan, M., Crow, Y. J., Markham, A. F., et al. (2002) · Nature Genetics

Neurogenesis and neuroplasticity mechanismsGenetics and Neurodevelopmental Disorders

Cited by 581

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

Jeremiah, N., Neven, B., Gentili, M., Callebaut, I., Maschalidi, S., Stolzenberg, M.-C., Goudin, N., Frémond, M.-L., Nitschke, P., Molina, T. J., et al. (2014) · Journal of Clinical Investigation

interferon and immune responsesSystemic Lupus Erythematosus Research

Cited by 562

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Zhang, X., Bogunovic, D., Payelle-Brogard, B., Francois-Newton, V., Speer, S. D., Yuan, C., Volpi, S., Li, Z., Sanal, O., Mansouri, D., et al. (2015) · Nature

interferon and immune responsesInflammasome and immune disorders

Cited by 558

The type I interferonopathies: 10 years on

Crow, Y. J., & Stetson, D. B. (2022) · Nature Reviews Immunology

interferon and immune responsesImmune Response and Inflammation

Cited by 489

Identification of microcephalin, a protein implicated in determining the size of the human brain

Jackson, A. P., Eastwood, H., Bell, S. M., Adu, J., Toomes, C., Carr, I. M., Roberts, E., Hampshire, D. J., Crow, Y. J., Mighell, A. J., et al. (2002) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersFetal and Pediatric Neurological Disorders

Cited by 482

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

Rodero, M. P., & Crow, Y. J. (2016) · Journal of Experimental Medicine

interferon and immune responsesInflammasome and immune disorders

Cited by 433

Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O’Hara, A., et al. (2007) · The American Journal of Human Genetics

Systemic Lupus Erythematosus ResearchInflammasome and immune disorders

Cited by 410

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

Thomas, C. A., Tejwani, L., Trujillo, C. A., Negraes, P. D., Herai, R. H., Mesci, P., Macia, A., Crow, Y. J., & Muotri, A. R. (2017) · Cell Stem Cell

interferon and immune responsesSystemic Lupus Erythematosus Research

Cited by 330

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

Crow, Y. J., & Rehwinkel, J. (2009) · Human Molecular Genetics

Systemic Lupus Erythematosus Researchinterferon and immune responses

Cited by 289

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Uggenti, C., Lepelley, A., Depp, M., Badrock, A. P., Rodero, M. P., El-Daher, M.-T., Rice, G. I., Dhir, S., Wheeler, A. P., Dhir, A., et al. (2020) · Nature Genetics

interferon and immune responsesInflammasome and immune disorders

Cited by 192

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Rice, G. I., Meyzer, C., Bouazza, N., Hully, M., Boddaert, N., Semeraro, M., Zeef, L. A. H., Rozenberg, F., Bondet, V., Duffy, D., et al. (2018) · New England Journal of Medicine

HIV/AIDS drug development and treatmentImmunodeficiency and Autoimmune Disorders

Cited by 153

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., et al. (2016) · Nature Genetics

Cerebrovascular and genetic disordersGenomics and Rare Diseases

Cited by 148

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., et al. (2010) · The American Journal of Human Genetics

Fetal and Pediatric Neurological DisordersBarrier Structure and Function Studies

Cited by 145

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 131

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 37

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 30

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

Takanohashi, A., Prust, M., Wang, J., Gordish-Dressman, H., Bloom, M., Rice, G. I., Schmidt, J. L., Crow, Y. J., Lebon, P., Kuijpers, T. W., et al. (2013) · Neurology

Inflammasome and immune disordersinterferon and immune responses

Cited by 25