Professor Yanick Crow BMedSci, MBBS, MRCP, PhD

Photograph of Yanick Crow

Professor of Genetic Medicine

Manchester Centre for Genomic Medicine
University of Manchester
Manchester Academic Heath Science Centre
Central Manchester University Hospitals NHS Foundation Trust
St Mary's Hospital
Oxford Road
Manchester
M13 9WL

Research

Aicardi-Goutières syndrome (AGS) is a genetically-determined brain disease closely mimicing the sequelae of congenital infection. AGS and congenital viral infection are both associated with an increased production of interferon alpha (IFN-a). Furthermore, a disturbance of IFN-a homeostasis is considered central to the pathogenesis of the autoimmune disorder systemic lupus erythematosus (SLE). In keeping with this, some children with AGS develop an early-onset form of SLE.

In 2006 we reported that recessive mutations in any of the genes encoding the 3´- 5´ exonuclease TREX1 (AGS1) or the three non-allelic components of the RNASEH2 endonuclease complex (AGS2, 3 and 4) result in AGS. We further showed, in 2007, that heterozygous TREX1 mutations cause both a dominant form of AGS and a cutaneous subtype of SLE, called familial chilblain lupus. In 2009 we described the AGS5 gene SAMHD1 as a regulator of the innate immune response, in 2012 we showed that mutations in the RNA editing enzyme ADAR1 can also result in the AGS phenotype, and in 2014 we reported mutations in IFIH1 / MDA5 to cause a spectrum of 'type I interferonopathy' phenotypes, includng AGS.

The proteins (TREX1, the RNASEH2 complex, SAMHD1 and ADAR1) are all involved in nucleic acid metabolism. Based on our results, and data from other laboratories, we hypothesise that the AGS-associated proteins are involved in removing ‘waste’ cellular nucleic acid species, a failure of which process results in triggering of the innate immune response that is more normally induced by viral nucleic acid. This understanding defines a novel cell-intrinsic mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid, and offers an elegant mechanistic explanation for the phenotypic overlap of AGS with congenital infection and SLE. That is, in the absence of protein activity, endogenous nucleic acids accumulate and are sensed as viral or ‘non-self’, leading to the induction of an IFN-alpha mediated immune response.

Our ongoing work aims to define the pathway from gene mutation through nucleic acid accumulation to stimulation of the immune system. Considering the natural history of AGS, ‘windows of opportunity’ for the treatment of this devastating disease exist and it is realistic to expect that advances in our understanding of the mechanisms underlying the phenotype will lead to earlier diagnosis, and provide molecular targets for the development of therapeutic interventions. We are pursuing these aims through a large international EU funded project (www.nimbl.eu).

The above studies have prompted us to consider the identification and analysis of single-gene disorders predisposing to the development of SLE as a tractable approach to understanding the pathogenesis of lupus; such ‘experiments of nature’ representing the equivalent of genetically engineered animal models of disease – in the human context. As proof of principle then, in 2011, we identified the causative gene for the immuno-osseus dysplasia spondyloenchondrodysplasia, in which affected individuals are at very high risk of multiple autoimmune phenotypes including lupus, and demonstrate a so-called type I interferon signature. We are currently using the new sequencing technologies to identify other Mendelian causes of lupus.

Finally, using intracranial calcification (ICC) as a clinical starting point, in collaboration with John Livingston (paediattric neurologist, Leeds), we are developing a classication system of ICC phenotypes, and using this system to identify causative genes (e..g see our definition of mutations in Occludin and CTC1 in band-like calcification and Coats plus respectively). 

Biography

I qualified in Medicine from Newcastle University in 1991, obtained my MRCP in adult medicine in Glasgow, subsequently worked in paediatrics in Stirling, and then undertook training in Clinical Genetics at Yorkhill Hospital (1996 - 1999). Inspired by Professor John Stephenson and Dr John Tolmie I became interested in neurogenetics and moved to Leeds where I undertook a PhD on the genetics of Aicardi-Goutières syndrome (AGS) with Dr Geoff Woods and Sir Alex Markham. Between 2001 and 2006 I was a full-time NHS consultant in the Yorkshire Regional Genetics Service, at which point I took up a post as Senior Lecturer in the Leeds Institute of Molecular Medicine working closely with Professor David Bonthron. In 2008 I became a Professor in Genetic Medicine at the University of Manchester.

My work has two main themes:

1. Type I interferonopathies - most particularly AGS. My work on AGS has proven to be of considerable scientific interest, and has led to the study of Mendelian forms of systemic lupus erythematosus (SLE).

2. Paediatric neurogenetics. Taking intracranial calcification as a diagnostic starting point has allowed for the delineation of a number of other clinical entities, demonstrating this same radiological sign, the genetic basis of which are currently under investigation.

Collaborators and affiliated staff

Dr Gillian Rice - Senior Postdoc employed by the University of Manchester

Dr Paul Kasher - Postdoc funded through the European Research Council

Dr Emma Jenkinson - Postdoc funded through the Great Ormond Street Children's Charity

Mr Anthony Oojageer - Research Technician funded through the European Research Council

Publications

2016

  • Briggs, T. A., Rice, G. I., Adib, N., Ades, L., Barete, S., Baskar, K., ... Crow, Y. J. (2016). Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.Journal of clinical immunology|J Clin Immunol, 36(3). 10.1007/s10875-016-0252-y. Publication link: e86e11fe-e5d4-4ef5-96db-967dbf0ff0cf | DOI:10.1007/s10875-016-0252-y | PubMed:26951490
  • La Piana, R., Uggetti, C., Roncarolo, F., Vanderver, A., Olivieri, I., Tonduti, D., ... Orcesi, S. (2016). Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.Neurology|Neurology, 86(1). 10.1212/WNL.0000000000002228. Publication link: 78344267-b6f9-41cd-9309-438903c0641a | DOI:10.1212/WNL.0000000000002228 | PubMed:26581299

2015

  • Amir, I., Crow, Y. J., & Morar, P. (2015). Adult-onset familial vocal fold paralysis.Ear, nose, & throat journal, 94(9).. Publication link: f6105ed1-cf41-4488-8f53-a9fab94f07dd | PubMed:26401672
  • Bursztejn, A-C., Briggs, T. A., Del Toro Duany, Y., Anderson, B. H., O'Sullivan, J., Williams, S. G., ... Crow, Y. J. (2015). Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.The British journal of dermatology. 10.1111/bjd.14073. Publication link: 5b4e040c-3036-47c7-ad6a-b6f8f5d6cee9 | DOI:10.1111/bjd.14073 | PubMed:26284909
  • Crow, Y. J. (2015). Type I interferonopathies: mendelian type I interferon up-regulation.Current opinion in immunology, 32. 10.1016/j.coi.2014.10.005. Publication link: 7b372e71-b503-4dd2-981a-dc94150ba7db | DOI:10.1016/j.coi.2014.10.005 | PubMed:25463593
  • Crow, Y. J., & Manel, N. (2015). Aicardi-Goutières syndrome and the type I interferonopathies.Nature reviews. Immunology, 15(7). 10.1038/nri3850. Publication link: 94a17557-7b4f-4391-afd9-38634651c99a | DOI:10.1038/nri3850 | PubMed:26052098
  • Crow, Y. J., Chase, D. S., Lowenstein Schmidt, J., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., ... D Arrigo, S. (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, 167A(2). 10.1002/ajmg.a.36887. Publication link: 67d45d18-56b9-4896-bfce-d4fdb8ba0357 | DOI:10.1002/ajmg.a.36887 | PubMed:25604658
  • Cuadrado, E., Booiman, T., van Hamme, J. L., Jansen, M. H., van Dort, K. A., Vanderver, A., ... Kuijpers, T. W. (2015). ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.PloS one|PLoS One, 10(12). 10.1371/journal.pone.0143613. Publication link: 2dcef1d9-b20a-4ae0-8bee-450243b11618 | DOI:10.1371/journal.pone.0143613 | PubMed:26629815
  • Cuadrado, E., Vanderver, A., Brown, K. J., Sandza, A., Takanohashi, A., Jansen, M. H., ... Kuijpers, T. W. (2015). Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.Annals of the rheumatic diseases, 74(10). 10.1136/annrheumdis-2014-205396. Publication link: a031de89-5bba-4daa-8c17-a2b27ef7117d | DOI:10.1136/annrheumdis-2014-205396 | PubMed:24906636
  • Frémond, M-L., Gitiaux, C., Bonnet, D., Guiddir, T., Crow, Y. J., de Pontual, L., & Bader-Meunier, B. (2015). Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.Pediatrics, 136(2). 10.1542/peds.2015-0724. Publication link: 3e40ff57-173e-4757-9a2b-a30896f459d1 | DOI:10.1542/peds.2015-0724 | PubMed:26216333
  • Hacohen, Y., Zuberi, S., Vincent, A., Crow, Y. J., & Cordeiro, N. (2015). Neuromyelitis optica in a child with Aicardi-Goutières syndrome.Neurology, 85(4). 10.1212/WNL.0000000000001792. Publication link: 042ece85-0d70-4502-a6de-719eba3d82be | DOI:10.1212/WNL.0000000000001792 | PubMed:26136517
  • Kasher, P. R., Jenkinson, E. M., Briolat, V., Gent, D., Morrissey, C., Zeef, L. A. H., ... Crow, Y. J. (2015). Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.Journal of immunology (Baltimore, Md. : 1950), 194(6). 10.4049/jimmunol.1403157. Publication link: 6a8cc6f4-fd91-4886-b8f0-37927415dabc | DOI:10.4049/jimmunol.1403157 | PubMed:25672750
  • King, D. A., Jones, W. D., Crow, Y. J., Dominiczak, A. F., Foster, N. A., Gaunt, T. R., ... Hurles, M. E. (2015). Mosaic structural variation in children with developmental disorders.Human molecular genetics. 10.1093/hmg/ddv033. Publication link: bd6807f6-45ee-4871-a667-99632577d2a6 | DOI:10.1093/hmg/ddv033 | PubMed:25634561
  • Lemos, R. R., Ramos, E. M., Legati, A., Nicolas, G., Jenkinson, E. M., Livingston, J. H., ... Oliveira, J. R. M. (2015). Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.Human Mutation. 10.1002/humu.22778. Publication link: cbd4713c-f5dc-492f-8261-b48b0a0be42f | DOI:10.1002/humu.22778 | PubMed:25726928
  • Mathieu, A-L., Verronese, E., Rice, G. I., Fouyssac, F., Bertrand, Y., Picard, C., ... Belot, A. (2015). PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.The Journal of allergy and clinical immunology, 135(6). 10.1016/j.jaci.2015.01.040. Publication link: 1e9dde33-d7e9-4055-9482-a2507fdce4d0 | DOI:10.1016/j.jaci.2015.01.040 | PubMed:25842288
  • Melki, I., & Crow, Y. J. (2015). Novel monogenic diseases causing human autoimmunity.Current opinion in immunology, 37. 10.1016/j.coi.2015.07.008. Publication link: c49eba3b-2134-4c99-a098-7727e819aeda | DOI:10.1016/j.coi.2015.07.008 | PubMed:26262888
  • Morrissey, C., Schwefel, D., Ennis-Adeniran, V., Taylor, I. A., Crow, Y. J., & Webb, M. (2015). The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.The Biochemical journal, 466(1), 69-76. 10.1042/BJ20140203. Publication link: 80b66fdb-f65e-417a-94b2-ceee7bd6b0bd | DOI:10.1042/BJ20140203 | PubMed:25423367
  • Munoz, J., Marque, M., Dandurand, M., Meunier, L., Crow, Y-J., & Bessis, D. (2015). Interféronopathies de type I.Annales de dermatologie et de venereologie. 10.1016/j.annder.2015.06.018. Publication link: 955838a7-ade5-4f79-935a-72ab43657c98 | DOI:10.1016/j.annder.2015.06.018 | PubMed:26363997
  • Munoz, J., Rodière, M., Jeremiah, N., Rieux-Laucat, F., Oojageer, A., Rice, G. I., ... Bessis, D. (2015). Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.JAMA dermatology, 151(8). 10.1001/jamadermatol.2015.0251. Publication link: e95781f6-0d68-443d-987c-01873a0525fe | DOI:10.1001/jamadermatol.2015.0251 | PubMed:25992765
  • Rice, G. I., Rodero, M. P., & Crow, Y. J. (2015). Human Disease Phenotypes Associated With Mutations in TREX1.Journal of clinical immunology, 35(3). 10.1007/s10875-015-0147-3. Publication link: 9021c045-9339-4c88-8e9c-c34fdb3fda75 | DOI:10.1007/s10875-015-0147-3 | PubMed:25731743
  • Rodero, M. P., & Crow, Y. J. (2015). cGMP-AMP synthase paves the way to autoimmunity.Proceedings of the National Academy of Sciences of the United States of America. 10.1073/pnas.1517578112. Publication link: f3d1057f-9329-4849-912f-5c63a9dd18fd | DOI:10.1073/pnas.1517578112 | PubMed:26450878
  • Rutsch, F., MacDougall, M., Lu, C., Buers, I., Mamaeva, O., Nitschke, Y., ... Hennekam, R. C. (2015). A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.American Journal of Human Genetics, 96(2). 10.1016/j.ajhg.2014.12.014. Publication link: 3e5e2f90-caf4-4148-b757-c53bdb88c35c | DOI:10.1016/j.ajhg.2014.12.014 | PubMed:25620204
  • Zhang, X., Bogunovic, D., Payelle-Brogard, B., Francois-Newton, V., Speer, S. D., Yuan, C., ... Pellegrini, S. (2015). Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.Nature, 517(7532), 89-93. 10.1038/nature13801. Publication link: 4e2e4773-fe7b-4ccd-94cb-2a3f1c07923a | DOI:10.1038/nature13801 | PubMed:25307056

2014

  • Belot, A., Brognard, J., Crow, Y. J., & Bonnefoy, N. (2014). Reply to PMID 23666743. Arthritis & Rheumatism, 66(1), 229-230. [PMID: 24449589]. 10.1002/art.38234. Publication link: 146a01a0-2351-4614-bb68-648842e586cc | DOI:10.1002/art.38234
  • Clifford, R., Louis, T., Robbe, P., Ackroyd, S., Burns, A., Timbs, A. T., ... Schuh, A. (2014). SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage. Blood, 123(7), 1021-1031. 10.1182/blood-2013-04-490847. Publication link: 4417df1a-802f-486f-a238-9f940746ee31 | DOI:10.1182/blood-2013-04-490847 | PubMed:24335234
  • Crow, Y. J., & Casanova, J-L. (2014). STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy. New England Journal of Medicine, 371(6), 568-571. [PMID: 25029336]. 10.1056/NEJMe1407246. Publication link: 27708521-68f6-4776-ba8f-15e6cf8e972f | DOI:10.1056/NEJMe1407246
  • Crow, Y. J., Zaki, M. S., Abdel-Hamid, M. S., Abdel-Salam, G., Boespflug-Tanguy, O., Cordeiro, N. J. V., ... Rice, G. I. (2014). Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.Neuropediatrics, 45(6). 10.1055/s-0034-1389161. Publication link: bd98eac7-a4e4-4d3f-b650-d7ff8f8e7d53 | DOI:10.1055/s-0034-1389161 | PubMed:25243380
  • Crow, Y., Belot, A., Wassmer, E., Twilt, M., Lega, J. C., Zeef, L. A. H., ... Crow, Y. J. (2014). Mutations in CECR1 associated with a neutrophil signature in peripheral blood. Pediatric Rheumatology, 12(1), [44]. 10.1186/1546-0096-12-44. Publication link: b07f4b99-b0a3-4573-bcc5-13fa0612c0b0 | DOI:10.1186/1546-0096-12-44 | PubMed:25278816
  • Crow, Y., Crow, Y. J., Vanderver, A., Orcesi, S., Kuijpers, T. W., & Rice, G. I. (2014). Therapies in Aicardi-Goutières syndrome. Clinical and Experimental Immunology, 175(1), 1-8. 10.1111/cei.12115. Publication link: ec5e10da-6381-400e-be6f-2d75085e93d6 | DOI:10.1111/cei.12115 | PubMed:23607857
  • Eckard, S. C., Rice, G. I., Fabre, A., Badens, C., Gray, E. E., Hartley, J. L., ... Stetson, D. B. (2014). The SKIV2L RNA exosome limits activation of the RIG-I-like receptors. Nature Immunology, 15(9), 839-845. 10.1038/ni.2948. Publication link: 12ab080f-abf3-4d8d-bab9-2257cb15213d | DOI:10.1038/ni.2948 | PubMed:25064072
  • Jeremiah, N., Neven, B., Gentili, M., Callebaut, I., Maschalidi, S., Stolzenberg, M-C., ... Rieux-Laucat, F. (2014). Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.The Journal of clinical investigation, 124(12). 10.1172/JCI79100. Publication link: 05218c74-f1a9-4950-a518-236b643e3ce8 | DOI:10.1172/JCI79100 | PubMed:25401470
  • Keppler-Noreuil, K. M., Sapp, J. C., Lindhurst, M. J., Parker, V. E. R., Blumhorst, C., Darling, T., ... Biesecker, L. G. (2014). Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. American Journal of Medical Genetics, Part A, 164(7), 1713-1733. 10.1002/ajmg.a.36552. Publication link: bd174be9-d029-4c81-9b1f-a068890cdec9 | DOI:10.1002/ajmg.a.36552 | PubMed:24782230
  • Livingston, J. H., Lin, J-P., Dale, R. C., Gill, D., Brogan, P., Munnich, A., ... Crow, Y. J. (2014). A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.Journal of medical genetics, 51(2), 76-82. 10.1136/jmedgenet-2013-102038. Publication link: e1bbebd9-3932-4e86-97dc-31929d0526c0 | DOI:10.1136/jmedgenet-2013-102038 | PubMed:24262145
  • Livingston, J. H., Mayer, J., Jenkinson, E., Kasher, P., Stivaros, S., Berger, A., ... Crow, Y. J. (2014). Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.Neuropediatrics, 45(3), 175-182. 10.1055/s-0033-1364180. Publication link: e8236bc0-6ef1-4a8b-abf3-53245110d833 | DOI:10.1055/s-0033-1364180 | PubMed:24407470
  • Livingston, J. H., Stivaros, S., Warren, D., & Crow, Y. J. (2014). Intracranial calcification in childhood: A review of aetiologies and recognizable phenotypes. Developmental medicine and child neurology, 56(7), 612-626. 10.1111/dmcn.12359. Publication link: 9601a50e-b24f-4d4b-bebc-d49f9e9c99ef | DOI:10.1111/dmcn.12359 | PubMed:24372060
  • McMillin, M. J., Beck, A. E., Chong, J. X., Shively, K. M., Buckingham, K. J., Gildersleeve, H. I. S., ... Bamshad, M. J. (2014). Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker Syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics, 94(5), 734-744. 10.1016/j.ajhg.2014.03.015. Publication link: 46995d9d-b28b-45da-8d20-5164d759c4d1 | DOI:10.1016/j.ajhg.2014.03.015 | PubMed:24726473
  • Rice, G. I., del Toro Duany, Y., Jenkinson, E. M., Forte, G. M. A., Anderson, B. H., Ariaudo, G., ... Crow, Y. J. (2014). Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.Nature Genetics, 46(5), 503-509. 10.1038/ng.2933. Publication link: 0ed76258-d9f5-4ceb-8cbe-8fbff624e0cd | DOI:10.1038/ng.2933 | PubMed:24686847
  • Van Goethem, G., Livingston, J. H., Warren, D., Oojageer, A. J., Rice, G. I., & Crow, Y. J. (2014). Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.Pediatric neurology, 51(6). 10.1016/j.pediatrneurol.2014.08.017. Publication link: d9e9d676-f20e-42c9-a551-1693cf5122e5 | DOI:10.1016/j.pediatrneurol.2014.08.017 | PubMed:25301227
  • Vanderver, A., Prust, M., Kadom, N., Demarest, S., Crow, Y. J., Helman, G., ... Livingston, J. H. (2014). Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.Journal of child neurology. 10.1177/0883073814562252. Publication link: fb039c0b-946f-4278-a8b5-1289acc5280c | DOI:10.1177/0883073814562252 | PubMed:25535058

2013

  • Belot, A., Kasher, P. R., Trotter, E. W., Foray, A-P., Debaud, A-L., Rice, G. I., ... Bonnefoy, N. (2013). Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.Arthritis and rheumatism, 65(8), 2161-2171. 10.1002/art.38008. Publication link: de42a443-c8cf-4dca-ba0a-5c6d79007aa4 | DOI:10.1002/art.38008 | PubMed:23666743
  • Crow, Y. J. (2013). Aicardi-Goutières syndrome. Handbook of Clinical Neurology, 113, 1629-1635. 10.1016/B978-0-444-59565-2.00031-9. Publication link: af49271a-97d0-446d-ac53-c2f2ff839ac7 | DOI:10.1016/B978-0-444-59565-2.00031-9 | PubMed:23622384
  • Crow, Y., Rice, G. I., Reijns, M. A. M., Coffin, S. R., Forte, G. M. A., Anderson, B. H., ... Crow, Y. J. (2013). Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in aicardi-Goutières syndrome. Human Mutation, 34(8), 1066-1070. 10.1002/humu.22336. Publication link: 5729d202-62c1-46be-b9d0-7759e4f9a10c | DOI:10.1002/humu.22336 | PubMed:23592335
  • Isidor, B., Le Meur, G., Conti, C., Caldagues, E., Lainey, E., Launay, E., ... David, A. (2013). Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?. American Journal of Medical Genetics, Part A, 161(8), 1829-1832. 10.1002/ajmg.a.36021. Publication link: c452e6f8-9a8a-4db9-b2f7-3b35efb8d7b5 | DOI:10.1002/ajmg.a.36021 | PubMed:23824919
  • Livingston, J. H., Stivaros, S., Van Der Knaap, M. S., & Crow, Y. J. (2013). Recognizable phenotypes associated with intracranial calcification. Developmental medicine and child neurology, 55(1), 46-57. 10.1111/j.1469-8749.2012.04437.x. Publication link: e9903ac1-f86a-4628-b3ed-9b2225a27800 | DOI:10.1111/j.1469-8749.2012.04437.x | PubMed:23121296
  • Rehwinkel, J., Maelfait, J., Bridgeman, A., Rigby, R., Hayward, B., Liberatore, R. A., ... Reis E Sousa, C. (2013). SAMHD1-dependent retroviral control and escape in mice. EMBO Journal, 32(18), 2454-2462. 10.1038/emboj.2013.163. Publication link: 19154ea8-ae43-4421-b812-105dc3cda21c | DOI:10.1038/emboj.2013.163 | PubMed:23872947
  • Rice, G. I., Forte, G. M. A., Szynkiewicz, M., Chase, D. S., Aeby, A., Abdel-Hamid, M. S., ... Crow, Y. J. (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. The Lancet Neurology, 12(12), 1159-1169. 10.1016/S1474-4422(13)70258-8. Publication link: dbeb23e0-ea4e-4a62-b564-eec78f936dda | DOI:10.1016/S1474-4422(13)70258-8 | PubMed:24183309
  • Takanohashi, A., Prust, M., Wang, J., Gordish-Dressman, H., Bloom, M., Rice, G. I., ... Vanderver, A. (2013). Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.Neurology, 80(11), 997-1002. 10.1212/WNL.0b013e3182872694. Publication link: 17fbde58-077f-4a75-b048-aa7bbca6a21a | DOI:10.1212/WNL.0b013e3182872694 | PubMed:23408864
  • Troedson, C., Wong, M., Dalby-Payne, J., Wilson, M., Dexter, M., Rice, G. I., ... Dale, R. C. (2013). Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.Lupus, 22(6), 639-643. 10.1177/0961203313486950. Publication link: 94e243bc-4766-4219-a0da-b6847ee36913 | DOI:10.1177/0961203313486950 | PubMed:23651859
  • Vogt, J., Agrawal, S., Ibrahim, Z., Southwood, T. R., Philip, S., Macpherson, L., ... Oley, C. (2013). Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. American Journal of Medical Genetics, Part A, 161(2), 338-342. 10.1002/ajmg.a.35712. Publication link: 30d91cc5-64cb-4682-8627-58403511525e | DOI:10.1002/ajmg.a.35712 | PubMed:23322642

2012

  • Anderson, B. H., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., ... Lourenço, C. M. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics, 44(3), 338-342. 10.1038/ng.1084. Publication link: 5e16d5b5-1fcc-4e1a-b396-4892f7d787a1 | DOI:10.1038/ng.1084 | PubMed:22267198
  • Banka, S., Veeramachaneni, R., Reardon, W., Howard, E., Bunstone, S., Ragge, N., ... Donnai, D. (2012). How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics, 20(4), 381-388. 10.1038/ejhg.2011.220. Publication link: f19345c0-4f82-4a7a-9357-a77a9d2e7db8 | DOI:10.1038/ejhg.2011.220 | PubMed:22126750
  • Descours, B., Cribier, A., Chable-Bessia, C., Ayinde, D., Rice, G., Crow, Y., ... Benkirane, M. (2012). SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4 + T-cells. Retrovirology, 9, [87]. 10.1186/1742-4690-9-87. Publication link: c214fcdb-58cd-4f12-aba5-dfefe9321941 | DOI:10.1186/1742-4690-9-87 | PubMed:23092122
  • Goncalves, A., Karayel, E., Rice, G. I., Bennett, K. L., Crow, Y. J., Superti-Furga, G., & Bürckstümmer, T. (2012). SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations. Human Mutation, 33(7), 1116-1122. 10.1002/humu.22087. Publication link: d0cde13e-06bd-4832-b459-4feeb808d691 | DOI:10.1002/humu.22087 | PubMed:22461318
  • Livingston, J. H., Graziano, C., Pysden, K., Crow, Y. J., Mordekar, S. R., Moroni, I., & Uziel, G. (2012). Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.Developmental Medicine and Child Neurology, 54(4), 376-379. 10.1111/j.1469-8749.2011.04167.x. Publication link: 3f35bdfd-5a21-4009-ae7c-8ba165a6c24a | DOI:10.1111/j.1469-8749.2011.04167.x | PubMed:22150413
  • Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., ... Crow, Y. J. (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature. Nature Genetics, 44(11), 1243-1248. 10.1038/ng.2414. Publication link: 50936850-c563-42f0-aa7d-ab17dd7d6ce6 | DOI:10.1038/ng.2414 | PubMed:23001123

2011

  • Allali, S., Le Goff, C., Pressace-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., ... Cormier-Daire, V. (2011). Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Journal of Medical Genetics, 48(6), 417-421. 10.1136/jmg.2010.087544. Publication link: f23587e5-f59e-4e3c-bd88-d1fa3f799abf | DOI:10.1136/jmg.2010.087544 | PubMed:21415077
  • Banka, S., Blom, H. J., Walter, J., Aziz, M., Urquhart, J., Clouthier, C. M., ... Newman, W. G. (2011). Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. American Journal of Human Genetics, 88(2), 216-225. 10.1016/j.ajhg.2011.01.004. Publication link: 6004c926-aec9-4f4f-a461-9452a0a26a75 | DOI:10.1016/j.ajhg.2011.01.004 | PubMed:21310276
  • Briggs, T. A., Hubbard, M., Hawkins, C., Cole, T., Livingston, J. H., Crow, Y. J., & Pigott, A. (2011). Treatment of gastrointestinal bleeding in a probable case of cerebroretinal microangiopathy with calcifications and cysts. Molecular Syndromology, 1(4), 159-162. 10.1159/000321559. Publication link: ed334326-52f0-485a-aaae-50943b34fe64 | DOI:10.1159/000321559 | PubMed:21373254
  • Briggs, T. A., Rice, G. I., Daly, S., Urquhart, J., Gornall, H., Bader-Meunier, B., ... Crow, Y. J. (2011). Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type i interferon expression signature. Nature Genetics, 43(2), 127-131. 10.1038/ng.748. Publication link: 93c821e2-b84e-42c0-bba8-8dfeeac26f6e | DOI:10.1038/ng.748 | PubMed:21217755
  • Crow, Y. J. (2011). Lupus: How much "complexity" is really (just) genetic heterogeneity?. Arthritis and Rheumatism, 63(12), 3661-3664. 10.1002/art.30603. Publication link: 655de70e-864e-4b3a-b4cc-448874d0cd00 | DOI:10.1002/art.30603 | PubMed:22127688
  • Crow, Y. J. (2011). Type I interferonopathies: A novel set of inborn errors of immunity. Annals of the New York Academy of Sciences, 1238(1), 91-98. 10.1111/j.1749-6632.2011.06220.x. Publication link: 6064c4a6-f686-4eb2-83ae-32235cd97586 | DOI:10.1111/j.1749-6632.2011.06220.x | PubMed:22129056
  • Crow, Y., Magro, C. M., Poe, J. C., Kim, C., Shapiro, L., Nuovo, G., ... Crow, Y. J. (2011). Degos disease: A C5b-9/interferon-a-mediated endotheliopathy syndrome. American Journal of Clinical Pathology, 135(4), 599-610. 10.1309/AJCP66QIMFARLZKI. Publication link: f73d75ef-2779-4fd8-b870-e9674fc3cae4 | DOI:10.1309/AJCP66QIMFARLZKI | PubMed:21411783
  • Goldstone, D. C., Ennis-Adeniran, V., Hedden, J. J., Groom, H. C. T., Rice, G. I., Christodoulou, E., ... Webb, M. (2011). HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Nature, 480(7377), 379-382. 10.1038/nature10623. Publication link: c4cf96b4-0593-4da5-ad3c-d58c2891d3c7 | DOI:10.1038/nature10623 | PubMed:22056990
  • Jenkinson, E. M., Kingston, H., Urquhart, J., Khan, N., Melville, A., Swinton, M., ... Newman, W. G. (2011). Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.American journal of medical genetics. Part A, 155A(12), 2910-2915. 10.1002/ajmg.a.34292. Publication link: bdfe1bd2-2c48-495c-9ed7-8d067eb6a96e | DOI:10.1002/ajmg.a.34292 | PubMed:22002932
  • Livingston, J., Doherty, D., Orcesi, S., Tonduti, D., Piechiecchio, A., La Piana, R., ... Crow, Y. (2011). COL4A1 mutations associated with a characteristic pattern of intracranial calcification. Neuropediatrics, 42(6), 227-233. 10.1055/s-0031-1295493. Publication link: 847686da-640e-4872-8970-3b0e6f3f7d8a | DOI:10.1055/s-0031-1295493 | PubMed:22134833
  • Munot, P., Crow, Y. J., & Ganesan, V. (2011). Paediatric stroke: Genetic insights into disease mechanisms and treatment targets. The Lancet Neurology, 10(3), 264-274. 10.1016/S1474-4422(10)70327-6. Publication link: 9fff8ca2-5cb6-4f72-981a-2820dcdd0122 | DOI:10.1016/S1474-4422(10)70327-6 | PubMed:21349441
  • Ravenscroft, J. C., Suri, M., Rice, G. I., Szynkiewicz, M., & Crow, Y. J. (2011). Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. American Journal of Medical Genetics, Part A, 155(1), 235-237. 10.1002/ajmg.a.33778. Publication link: 1b4b6ed5-1f31-4ba0-b39e-87a225fcd72b | DOI:10.1002/ajmg.a.33778 | PubMed:21204240
  • Sakthivel, M., Hughes, S. M., Riley, P., Arkwright, P. D., Mukherjee, A., Ramsden, S., ... Crow, Y. J. (2011). Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.American journal of medical genetics. Part A, 155A(12), 3087-3089. 10.1002/ajmg.a.34318. Publication link: 87fb3955-17b9-42b5-8f5d-1b074c06f288 | DOI:10.1002/ajmg.a.34318 | PubMed:22052851
  • Thibault, M., Leydet, J., Tournier-Lasserve, E., Crow, Y. J., Rivier, F., Echenne, B., ... Roubertie, A. (2011). Syndromes génétiques mimant les infections congénitales: À propos de 2 cas. Archives de Pediatrie, 18(12), 1292-1296. 10.1016/j.arcped.2011.08.009. Publication link: 464a5fc8-e15a-4773-a768-088cac3a10b3 | DOI:10.1016/j.arcped.2011.08.009 | PubMed:21963371
  • Yeo, T. H., Vassallo, G., Judge, M., Laycock, N., Kelsey, A., & Crow, Y. J. (2011). Infantile neurological Degos disease. European Journal of Paediatric Neurology, 15(2), 167-170. 10.1016/j.ejpn.2010.06.003. Publication link: 5acb800a-543e-43bf-bc0d-d41636b17289 | DOI:10.1016/j.ejpn.2010.06.003 | PubMed:20659809

2010

  • Abdel-Salam, G. M. H., El-Kamah, G. Y., Rice, G. I., El-Darouti, M., Gornall, H., Szynkiewicz, M., ... Crow, Y. J. (2010). Chilblains as a diagnostic sign of aicardi-goutiéres syndrome. Neuropediatrics, 41(1), 18-23. 10.1055/s-0030-1255059. Publication link: c943d80c-56a8-4834-bb9b-875d057ee24f | DOI:10.1055/s-0030-1255059 | PubMed:20571986
  • Banka, S., Chervinsky, E., Newman, W. G., Crow, Y. J., Yeganeh, S., Yacobovich, J., ... Shalev, S. (2010). Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. European Journal of Human Genetics, 19(1), 18-22. 10.1038/ejhg.2010.136. Publication link: b7e0ea24-3165-47a2-9247-da7fca25830c | DOI:10.1038/ejhg.2010.136 | PubMed:20717171
  • Craft, E., Wildig, C. E., & Crow, Y. J. (2010). 3C syndrome. American Journal of Medical Genetics, Part A, 152(4), 1026-1027. 10.1002/ajmg.a.32820. Publication link: e8ac45f6-6613-4f25-8c49-be7ccbb8d0b8 | DOI:10.1002/ajmg.a.32820
  • Crow, Y. J. (2010). The story of DNase II: A stifled death-wish leads to self-harm. European Journal of Immunology, 40(9), 2376-2378. 10.1002/eji.201040829. Publication link: 418dcb01-f6d8-4268-979b-0fbf5b375d66 | DOI:10.1002/eji.201040829 | PubMed:20706989
  • Dale, R. C., Gornall, H., Singh-Grewal, D., Alcausin, M., Rice, G. I., & Crow, Y. J. (2010). Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. American Journal of Medical Genetics, Part A, 152(4), 938-942. 10.1002/ajmg.a.33359. Publication link: 454f7481-369e-47cf-9f0c-e7402c2cf368 | DOI:10.1002/ajmg.a.33359 | PubMed:20358604
  • Elsaid, M. F., Crow, Y. J., Livingston, J. H., & Ben-Omran, T. (2010). New subtype of familial intracranial calcification in a mother and two children. American Journal of Medical Genetics, Part A, 152(4), 943-946. 10.1002/ajmg.a.33360. Publication link: ab80d800-5935-46d0-83f8-646519aafa59 | DOI:10.1002/ajmg.a.33360 | PubMed:20358605
  • Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J. P., ... Josifova, D. J. (2010). Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54. American Journal of Human Genetics, 86(3), 485-489. 10.1016/j.ajhg.2010.02.006. Publication link: 9fa8c7f7-4722-44f6-a7cd-0e0b2241a7c7 | DOI:10.1016/j.ajhg.2010.02.006 | PubMed:20206331
  • Haaxma, C. A., Crow, Y. J., Van Steensel, M. A. M., Lammens, M. M. Y., Rice, G. I., Verbeek, M. M., & Willemsen, M. A. A. P. (2010). A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. American Journal of Medical Genetics, Part A, 152(10), 2612-2617. 10.1002/ajmg.a.33620. Publication link: 597912ea-3b3f-45de-aff2-b7e7537ea05d | DOI:10.1002/ajmg.a.33620 | PubMed:20799324
  • O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., ... Crow, Y. J. (2010). Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. American Journal of Human Genetics, 87(3), 354-364. 10.1016/j.ajhg.2010.07.012. Publication link: 98a26286-c0ae-4452-935f-9b279f01f753 | DOI:10.1016/j.ajhg.2010.07.012 | PubMed:20727516
  • Ramesh, V., Bernardi, B., Stafa, A., Garone, C., Franzoni, E., Abinun, M., ... Crow, Y. J. (2010). Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.Developmental medicine and child neurology, 52(8), 725-732. 10.1111/j.1469-8749.2010.03727.x. Publication link: 58c3d770-986e-4927-b01c-146828b2170f | DOI:10.1111/j.1469-8749.2010.03727.x | PubMed:20653736
  • Spiegel, R., Cliffe, S. T., Buckley, M. F., Crow, Y. J., Urquhart, J., Horovitz, Y., ... Shalev, S. A. (2010). Expanding the clinical spectrum of SLC29A3 gene defects. European Journal of Medical Genetics, 53(5), 309-313. 10.1016/j.ejmg.2010.06.012. Publication link: 801d0e38-35d1-4d6c-92d4-d4e53d672736 | DOI:10.1016/j.ejmg.2010.06.012 | PubMed:20619369

2009

  • Abdollahi, M. R., Morrison, E., Sirey, T., Molnar, Z., Hayward, B. E., Carr, I. M., ... Sheridan, E. (2009). Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia. American Journal of Human Genetics, 85(5), 737-744. 10.1016/j.ajhg.2009.10.007. Publication link: 06fc9747-a923-4161-99d2-cefa3d51adb9 | DOI:10.1016/j.ajhg.2009.10.007 | PubMed:19896110
  • Aiello, C., Terracciano, A., Simonati, A., Discepoli, G., Cannelli, N., Claps, D., ... Santorelli, F. M. (2009). Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. Human Mutation, 30(3), E530-E540. 10.1002/humu.20975. Publication link: a67c1cc0-811f-45e2-bcdc-c07f4b7ddb3c | DOI:10.1002/humu.20975
  • Crow, Y. J., & Rehwinkel, J. (2009). Aicardi-Goutie'res syndrome and related phenotypes: Linking nucleic acid metabolism with autoimmunity. Human Molecular Genetics, 18(2), R130-R136. 10.1093/hmg/ddp293. Publication link: e2d8d2d5-9598-4558-a3e5-da37c8058fce | DOI:10.1093/hmg/ddp293 | PubMed:19808788
  • Garg, A., Subramanyam, L., Agarwal, A. K., Simha, V., Levine, B., D'Apice, M. R., ... Crow, Y. (2009). Atypical progeroid syndrome due to heterozygous missense LMNA mutations. Journal of Clinical Endocrinology and Metabolism, 94(12), 4971-4983. 10.1210/jc.2009-0472. Publication link: e081d388-175f-4c97-915f-cc81c2c3545f | DOI:10.1210/jc.2009-0472 | PubMed:19875478
  • Hall, D., Rice, G. I., Akbar, N., Meager, A., Crow, Y. J., & Lim, M. J. (2009). Aicardi-Goutières syndrome presenting with haematemesis in infancy.Acta paediatrica (Oslo, Norway : 1992), 98(12), 2005-2008. 10.1111/j.1651-2227.2009.01454.x. Publication link: 855a670b-2f40-4f25-852f-3a1cfe8ec04d | DOI:10.1111/j.1651-2227.2009.01454.x | PubMed:19775308
  • Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., ... Warman, M. L. (2009). Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2. American Journal of Human Genetics, 84(1), 44-51. 10.1016/j.ajhg.2008.12.009. Publication link: 70a86289-37b2-41be-8de0-5729665c2d8c | DOI:10.1016/j.ajhg.2008.12.009
  • Uggetti, C., La Piana, R., Orcesi, S., Egitto, M. G., Crow, Y. J., & Fazzi, E. (2009). Aicardi-Goutières syndrome: Neuroradiologic findings and follow-up. American Journal of Neuroradiology, 30(10), 1971-1976. 10.3174/ajnr.A1694. Publication link: 8f5eefe1-86ee-412f-b5c8-826cddc1a92c | DOI:10.3174/ajnr.A1694 | PubMed:19628626

2008

  • Barber, J. C. K., Maloney, V. K., Huang, S., Bunyan, D. J., Cresswell, L., Kinning, E., ... Hobson, E. (2008). 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. European Journal of Human Genetics, 16(1), 18-27. 10.1038/sj.ejhg.5201932. Publication link: a68f6c84-57bf-42ef-9673-d3c19aaf944a | DOI:10.1038/sj.ejhg.5201932
  • Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nürnberg, G., Becker, C., ... Baas, F. (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics, 40(9), 1113-1118. 10.1038/ng.204. Publication link: 61b4f8d8-965f-47bd-8e35-ef1c91d441d8 | DOI:10.1038/ng.204
  • Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A., & Crow, Y. (2008). A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.American journal of medical genetics. Part A, 146A(13), 1713-1717. 10.1002/ajmg.a.32304. Publication link: ae85c72b-8384-43e7-b744-098a685ee7e9 | DOI:10.1002/ajmg.a.32304 | PubMed:18512226
  • Crow, Y. J., & Livingston, J. H. (2008). Aicardi-Goutières syndrome: An important Mendelian mimic of congenital infection. Developmental Medicine and Child Neurology, 50(6), 410-416. 10.1111/j.1469-8749.2008.02062.x. Publication link: 495a1e84-b4a5-4c81-8a7d-6ec7dc398a10 | DOI:10.1111/j.1469-8749.2008.02062.x
  • Crow, Y., Briggs, T. A., Abdel-Salam, G. M. H., Balicki, M., Baxter, P., Bertini, E., ... Crow, Y. J. (2008). Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC). American Journal of Medical Genetics, Part A, 146(2), 182-190. 10.1002/ajmg.a.32080. Publication link: 54d9a4b5-27f3-4a40-8589-4b5bf22a57c4 | DOI:10.1002/ajmg.a.32080 | PubMed:18076099
  • Crow, Y., Briggs, T. A., Wolf, N. I., D'Arrigo, S., Ebinger, F., Harting, I., ... Crow, Y. J. (2008). Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype. American Journal of Medical Genetics, Part A, 146(24), 3173-3180. 10.1002/ajmg.a.32614. Publication link: da9535f1-c6c2-4ca3-ad2a-3a2651c2ab7d | DOI:10.1002/ajmg.a.32614 | PubMed:19012351
  • D'arrigo, S., Riva, D., Bulgheroni, S., Chiapparini, L., Lebon, P., Rice, G., ... Pantaleoni, C. (2008). Aicardi-Goutières syndrome: Description of a late onset case. Developmental Medicine and Child Neurology, 50(8), 631-634. 10.1111/j.1469-8749.2008.03033.x. Publication link: 88b9c5e2-b400-4d83-a8e4-8f15bce2a9f5 | DOI:10.1111/j.1469-8749.2008.03033.x | PubMed:18754903
  • De Pontual, L., Trochet, D., Caillat-Zucman, S., Abou Shenab, O. A., Bougneres, P., Crow, Y., ... Amiel, J. (2008). Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatric Research, 64(6), 689-694. 10.1203/PDR.0b013e318187dd0e. Publication link: 1e421dfd-ec63-4173-a04c-13baeea89f4f | DOI:10.1203/PDR.0b013e318187dd0e
  • Jepps, H., Seal, S., Hattingh, L., & Crow, Y. J. (2008). The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection. Early Human Development, 84(12), 783-785. 10.1016/j.earlhumdev.2008.09.001. Publication link: 5770c2fe-056c-417c-bbe2-72dc5ef06a7c | DOI:10.1016/j.earlhumdev.2008.09.001
  • Kolivras, A., Aeby, A., Crow, Y. J., Rice, G. I., Sass, U., & André, J. (2008). Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus.Journal of cutaneous pathology, 35(8), 774-778. 10.1111/j.1600-0560.2007.00900.x. Publication link: 65cbede4-bf6e-4966-8c0d-798280fe6fd0 | DOI:10.1111/j.1600-0560.2007.00900.x | PubMed:18422690
  • Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., ... Cormier-Daire, V. (2008). ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation. Nature Genetics, 40(9), 1119-1123. 10.1038/ng.199. Publication link: 318310bc-e120-4d9d-a96b-9d4a40e5c45f | DOI:10.1038/ng.199
  • Navarro, V., Scott, C., Briggs, T. A., Barete, S., Frances, C., Lebon, P., ... Crow, Y. J. (2008). Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.American journal of medical genetics. Part A, 146A(21), 2810-2815. 10.1002/ajmg.a.32518. Publication link: 2ed90b63-3823-4e21-b711-991bc436289c | DOI:10.1002/ajmg.a.32518 | PubMed:18924170
  • Orcesi, S., Pessagno, A., Biancheri, R., La Piana, R., Mascaretti, M., Rossi, A., ... Veneselli, E. (2008). Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. European Journal of Paediatric Neurology, 12(5), 408-411. 10.1016/j.ejpn.2007.10.005. Publication link: 4d420abe-1326-4da6-9852-e9a5f31fba7d | DOI:10.1016/j.ejpn.2007.10.005 | PubMed:18069026
  • Rauch, A., Thiel, C. T., Schindler, D., Wick, U., Crow, Y. J., Ekici, A. B., ... Reis, A. (2008). Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science, 319(5864), 816-819. 10.1126/science.1151174. Publication link: b5515752-ca9b-45f3-af5c-da7f9d78cd1e | DOI:10.1126/science.1151174

2007

  • Childs, A. M., Hutchin, T., Pysden, K., Highet, L., Bamford, J., Livingston, J., & Crow, Y. J. (2007). Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. Neuropediatrics, 38(6), 313-316. 10.1055/s-2008-1065355. Publication link: 4c2ad29b-f62f-4a2e-87ba-5f78ce5dfdd7 | DOI:10.1055/s-2008-1065355
  • Crow, Y., Fisher, R. B., Pairaudeau, P. W., Innes, J. R., Bartlett, R. J. V., & Crow, Y. J. (2007). Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum. Clinical Dysmorphology, 16(1), 59-61. 10.1097/01.mcd.0000220617.93520.bb. Publication link: f98db165-4ee5-40dc-b5c2-1dd0203433f3 | DOI:10.1097/01.mcd.0000220617.93520.bb
  • Quarrell, O. W. J., Rigby, A. S., Barron, L., Crow, Y., Dalton, A., Dennis, N., ... Warner, J. (2007). Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.Journal of Medical Genetics, 44(3), e68. 10.1136/jmg.2006.045120. Publication link: b42c623f-60ca-4bd5-a68a-3ce22cdedbf0 | DOI:10.1136/jmg.2006.045120
  • Rajadhyax, M., Neti, G., Crow, Y., & Tyagi, A. (2007). Neurological presentation of Griscelli syndrome: Obstructive hydrocephalus without haematological abnormalities or organomegaly. Brain and Development, 29(4), 247-250. 10.1016/j.braindev.2006.09.007. Publication link: 403249d6-74a7-4208-91ce-41478f517291 | DOI:10.1016/j.braindev.2006.09.007
  • Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., ... Crow, Y. J. (2007). Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome. American Journal of Human Genetics, 80(4), 811-815. 10.1086/513443. Publication link: bb4c713e-cbac-4872-b57d-5a8ace54f34b | DOI:10.1086/513443 | PubMed:17357087
  • Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., ... Tiong, Y. T. (2007). Clinical and molecular phenotype of Aicardi-Goutieres syndrome.American Journal of Human Genetics, 81(4), 713-725. 10.1086/521373. Publication link: 3c4306cc-901f-4fae-a856-9b029b9f87d7 | DOI:10.1086/521373 | PubMed:17846997

2006

  • Crow, Y. J., Goodship, J. A., Wright, C., Coady, A. M., Conley, M. E., & Gennery, A. R. (2006). A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features. American Journal of Medical Genetics, Part A, 140(11), 1131-1135. 10.1002/ajmg.a.31275. Publication link: 8b924b02-24a3-4661-bbcd-aae79b4e5af7 | DOI:10.1002/ajmg.a.31275
  • Crow, Y., Ali, M., Highet, L. J., Lacombe, D., Goizet, C., King, M. D., ... Crow, Y. J. (2006). A second locus for Aicardi-Goutières syndrome at chromosome 13q14-21. Journal of Medical Genetics, 43(5), 444-450. 10.1136/jmg.2005.031880. Publication link: b741303c-4a0c-4d38-bfe5-ebc5a2615fc0 | DOI:10.1136/jmg.2005.031880
  • Crow, Y., Crow, Y. J., Hayward, B. E., Parmar, R., Robins, P., Leitch, A., ... Lindahl, T. (2006). Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nature Genetics, 38(8), 917-920. 10.1038/ng1845. Publication link: fc988e63-eeb2-48fe-875f-f62b6af8d785 | DOI:10.1038/ng1845
  • Crow, Y., Crow, Y. J., Leitch, A., Hayward, B. E., Garner, A., Parmar, R., ... Jackson, A. P. (2006). Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nature Genetics, 38(8), 910-916. 10.1038/ng1842. Publication link: b343e13d-7c72-4a5b-a335-cdf74dc15e2c | DOI:10.1038/ng1842
  • English, S. J., Gayatri, N., Arthur, R., & Crow, Y. J. (2006). Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. American Journal of Medical Genetics, Part A, 140(17), 1854-1858. 10.1002/ajmg.a.31376. Publication link: cc2831b7-fc85-464a-9e37-ce881e25e5ee | DOI:10.1002/ajmg.a.31376
  • Horsnell, K., Ali, M., Malik, S., Wilson, L., Hall, C., Debeer, P., & Crow, Y. (2006). Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. European Journal of Medical Genetics, 49(5), 396-401. 10.1016/j.ejmg.2006.01.004. Publication link: 60332140-9c14-48c4-b75e-c63294dfccbb | DOI:10.1016/j.ejmg.2006.01.004
  • James, P. A., Cader, M. Z., Muntoni, F., Childs, A. M., Crow, Y. J., & Talbot, K. (2006). Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology, 67(9), 1710-1712. 10.1212/01.wnl.0000242619.52335.bc. Publication link: 649ed2d9-b862-44de-b4df-b5c260571618 | DOI:10.1212/01.wnl.0000242619.52335.bc

2005

  • Crow, Y. J., Corona-Rivera, J. R., Fragoso-Herrera, R., & Loera-Castañeda, V. (2005). Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome [4] (multiple letters). American Journal of Medical Genetics, 137(2), 233-234. 10.1002/ajmg.a.30870. Publication link: 5d4efb24-8d05-4352-b838-561f31174b9f | DOI:10.1002/ajmg.a.30870
  • Crow, Y., Scott, A., Yeung, S., Dickinson, D. F., Karbani, G., & Crow, Y. J. (2005). Natural history of cardiac involvement in geleophysic dysplasia. American Journal of Medical Genetics, 132(3), 320-323. 10.1002/ajmg.a.30450. Publication link: 6c6b0415-5f21-4642-ab0e-7aaa32146b56 | DOI:10.1002/ajmg.a.30450
  • Desanges, C., Lebon, P., Bauman, C., Vuillard, E., Garel, C., Cordesse, A., ... Luton, D. (2005). Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome. Fetal Diagnosis and Therapy, 21(1), 153-155. 10.1159/000089067. Publication link: e60af33f-ea8a-4eae-aa1e-e5c9ed6397d0 | DOI:10.1159/000089067
  • Dipti, S., Childs, A. M., Livingston, J. H., Aggarwal, A. K., Miller, M., Williams, C., & Crow, Y. J. (2005). Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain and Development, 27(6), 443-446. 10.1016/j.braindev.2004.10.003. Publication link: b0ed97e4-4c1d-4229-b07c-36a1574d1129 | DOI:10.1016/j.braindev.2004.10.003
  • Kirby, D., Jackson, A. P., Karbani, G., & Crow, Y. J. (2005). Mental retardation, keratoconus, febrile seizures and sinoatrial block: A previously undescribed autosomal recessive disorder [6]. Clinical Genetics, 67(5), 448-449. 10.1111/j.1399-0004.2005.00429.x. Publication link: 159737f0-34a4-479d-91a2-235d616344c6 | DOI:10.1111/j.1399-0004.2005.00429.x
  • Puthuran, M. J., Rowland-Hill, C. A., Simpson, J., Pairaudeau, P. W., Mabbott, J. L., Morris, S. M., & Crow, Y. J. (2005). Chromosome 1q42 deletion and agenesis of the corpus callosum [3]. American Journal of Medical Genetics, 138(1), 68-69. 10.1002/ajmg.a.30888. Publication link: 92cb10aa-7238-4c76-a7e2-2021cc63e541 | DOI:10.1002/ajmg.a.30888
  • Sanchis, A., Cerveró, L., Bataller, A., Tortajada, J. L., Huguet, J., Crow, Y. J., ... Martínez-Frías, M. L. (2005). Genetic syndromes mimic congenital infections. Journal of Pediatrics, 146(5), 701-705. 10.1016/j.jpeds.2005.01.033. Publication link: e6d8a5b5-a315-4841-bb1a-d7b3077fb808 | DOI:10.1016/j.jpeds.2005.01.033
  • Zweier, C., Thiel, C. T., Dufke, A., Crow, Y. J., Meinecke, P., Suri, M., ... Rauch, A. (2005). Clinical and mutational spectrum of Mowat-Wilson Syndrome. European Journal of Medical Genetics, 48(2), 97-111. 10.1016/j.ejmg.2005.01.003. Publication link: 35e07e3f-2abf-41ba-8b85-3f6872fe2b09 | DOI:10.1016/j.ejmg.2005.01.003

2004

  • Bartels, C. F., Bükülmez, H., Padayatti, P., Rhee, D. K., Van Ravenswaaij-Arts, C., Pauli, R. M., ... Warman, M. L. (2004). Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. American Journal of Human Genetics, 75(1), 27-34. 10.1086/422013. Publication link: ecf8ef2a-a7b3-44c3-b1b0-19da4e5e2d7c | DOI:10.1086/422013
  • Borozdin, W., Wright, M. J., Hennekam, R. C., Hannibal, M. C., Crow, Y. J., Neumann, T. E., & Kohlhase, J. (2004). Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.Journal of Medical Genetics, 41(8), e102. 10.1136/jmg.2004.019505. Publication link: f26bf973-17b3-496a-a78e-39d6b1b14932 | DOI:10.1136/jmg.2004.019505
  • Crow, Y., Crow, Y. J., Massey, R. F., Innes, J. R., Pairaudeau, P. W., Hill, C. A. R., ... Winter, R. M. (2004). Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome. American Journal of Medical Genetics, 129(3), 303-307. 10.1002/ajmg.a.30250. Publication link: 39a2b5c9-565a-462d-b412-4f0e2ad0d053 | DOI:10.1002/ajmg.a.30250
  • Crow, Y., Crow, Y. J., McMenamin, J., Haenggeli, C. A., Hadley, D. M., Tirupathi, S., ... Stephenson, J. B. P. (2004). Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument. Neuropediatrics, 35(1), 10-19. 10.1055/s-2003-43552. Publication link: 5e725397-4d3d-429a-802f-dbf7f5e61501 | DOI:10.1055/s-2003-43552

2003

  • Crow, Y. J., Black, D., Ali, M., Bond, J., Jackson, A., Lefson, M., ... Lebon, P. (2003). Cree encephalitis is allelic with Aicardi-Goutières syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.J Med Genet, 40( 3), 183-7. 10.1136/jmg.40.3.183. Publication link: 174d8474-4a38-4646-9fbd-0b87be75bfc1 | DOI:10.1136/jmg.40.3.183

2002

  • Bond, J., Roberts, E., Mochida, G. H., Hampshire, D. J., Scott, S., Askham, J. M., ... Geoffrey Woods, C. (2002). ASPM is a major determinant of cerebral cortical size. Nature Genetics, 32(2), 316-320. 10.1038/ng995. Publication link: b88f98fb-03ea-4814-9d11-131ade6149c8 | DOI:10.1038/ng995
  • Crow, Y. J. (2002). The genetics of Aicardi-Goutières syndrome.Eur J Paediatr Neurol, 6 Suppl A.. Publication link: 77583454-6aaf-41ab-9e55-e5f1965c2d93
  • Jackson, A. P., Eastwood, H., Bell, S. M., Adu, J., Toomes, C., Carr, I. M., ... Woods, C. G. (2002). Identification of microcephalin, a protein implicated in determining the size of the human brain. American Journal of Human Genetics, 71(1), 136-142. 10.1086/341283. Publication link: e114d716-9996-47b4-a76b-ee55a415ad0e | DOI:10.1086/341283
  • Roberts, E., Hampshire, D. J., Pattison, L., Springell, K., Jafri, H., Corry, P., ... Woods, C. G. (2002). Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation. Journal of Medical Genetics, 39(10), 718-721. 10.1136/jmg.39.10.718. Publication link: caa9fbf8-7483-4bf8-aa49-8c356f25d4e5 | DOI:10.1136/jmg.39.10.718

2001

  • Hampshire, D. J., Roberts, E., Crow, Y., Bond, J., Mubaidin, A., Wriekat, A. L., ... Woods, C. G. (2001). Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. Journal of Medical Genetics, 38(10), 680-682.. Publication link: 8fd6a843-eb22-44df-842b-eb2ffdab92db
  • Henwood, J., Pickard, C., Leek, J. P., Bennett, C. P., Crow, Y. J., Thomson, J. D. R., ... Lench, N. J. (2001). A region of homozygosity within 22q11.2 associated with congenital heart disease: Recessive DiGeorge/velocardiofacial syndrome? [3]. Journal of Medical Genetics, 38(8), 533-536. 10.1136/jmg.38.8.533. Publication link: e2be3ee4-7f5d-4988-ae44-76f0bdf5433c | DOI:10.1136/jmg.38.8.533

2000

  • Crow, Y., Crow, Y. J., Jackson, A. P., Roberts, E., Van Beusekom, E., Barth, P., ... Woods, C. G. (2000). Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. American Journal of Human Genetics, 67(1), 213-221. 10.1086/302955. Publication link: e253c8f4-e3b2-4c45-81b2-148a61105a86 | DOI:10.1086/302955
  • Pattison, L., Crow, Y. J., Deeble, V. J., Jackson, A. P., Jafri, H., Rashid, Y., ... Woods, C. G. (2000). A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. American Journal of Human Genetics, 67(6), 1578-1580. 10.1086/316910. Publication link: cacafb0a-3a3b-4482-bd43-75075a6a4ebb | DOI:10.1086/316910

1999

  • Stephenson, J. B. P., Greene, N. D. E., Leung, K. Y., Munroe, P. B., Mole, S. E., Gardiner, R. M., ... Mitchison, H. M. (1999). The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. Molecular Genetics and Metabolism, 66(4), 245-247. 10.1006/mgme.1999.2831. Publication link: 15f51a71-5324-4816-9a93-75e633ce6239 | DOI:10.1006/mgme.1999.2831

1998

  • Crow, Y. J., & Tolmie, J. L. (1998). Recurrence risks in mental retardation. Journal of Medical Genetics, 35(3), 177-182.. Publication link: e3d44b1a-f255-401b-85b2-f4a25beedb7a
  • Crow, Y. J., Mitchison, H., Hofmann, S., Becerra, C., Munroe, P., Lake, B., ... O'Rawe, A. (1998). Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.Hum Mol Genet, 7( 2).. Publication link: caba9734-92e7-4143-8223-9b8d73cc272d
  • Crow, Y. J., Zuberi, S. M., McWilliam, R., Tolmie, J. L., Hollman, A., Pohl, K., & Stephenson, J. B. P. (1998). 'Cataplexy' and muscle ultrasound abnormalities in Coffin-Lowry syndrome. Journal of Medical Genetics, 35(2), 94-98.. Publication link: 54cf9c9c-acb6-4f24-b123-2540acd60939
  • Ghaffari, S. R., Boyd, E., Tolmie, J. L., Crow, Y. J., Trainer, A. H., & Connor, J. M. (1998). A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. Journal of Medical Genetics, 35(3), 225-233.. Publication link: 97550c2c-dcb5-462a-adab-77e8d965edaa
  • Munroe, P. B., Greene, N. D. E., Leung, K. Y., Mole, S. E., Gardiner, R. M., Mitchison, H. M., ... Crow, Y. J. (1998). Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland [4]. Journal of Medical Genetics, 35(9), 790.. Publication link: 65f1411f-f1ca-4cdc-aac8-dd6dd9da638c
  • Reid, E., Douglas, F., Crow, Y., Hollman, A., & Gibson, J. (1998). Autosomal dominant juvenile recurrent parotitis. Journal of Medical Genetics, 35(5), 417-419.. Publication link: ad9656c3-a59b-4f4a-9b84-0d7e7893cfb9

1997

  • Crow, Y. J., Tolmie, J. L., Crossley, J. A., & Aitken, D. A. (1997). Maternal serum alpha-fetoprotein levels in congenital nephrosis [3]. Prenatal Diagnosis, 17(11), 1089. 10.1002/(SICI)1097-0223(199711)17:11<1089::AID-PD184>3.0.CO;2-7. Publication link: d3df7219-ce26-45cb-b733-1a31af083fa1 | DOI:10.1002/(SICI)1097-0223(199711)17:11<1089::AID-PD184>3.0.CO;2-7
  • Crow, Y. J., Tolmie, J. L., Howatson, A. G., Patrick, W. J. A., & Stephenson, J. B. P. (1997). Batten disease in the West of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits. Neuropediatrics, 28(3), 140-144.. Publication link: 6ced2928-15b3-4e6f-9cd0-4f0f25b0e91b
  • Crow, Y., Crow, Y. J., Tolmie, J. L., Rippard, K., Nairn, L., Wilkinson, A. G., & Turner, T. (1997). Spondylocostal dysostosis associated with a 46,XX,+15,dic(6;15)(q25;q11.2) translocation. Clinical Dysmorphology, 6(4), 347-350. 10.1097/00019605-199710000-00008. Publication link: dcf20015-f1c9-4fcb-bf19-c3f2d5f004c2 | DOI:10.1097/00019605-199710000-00008

1991

  • Crow, Y., Crow, Y. J., Alberti, K., & Parkin, J. M. (1991). Insulin dependent diabetes in childhood and material deprivation in northern England, 1977-86. BMJ, 303(6795), 158-160.. Publication link: b5e7fb9a-fc05-4dde-860d-22cb18059f80

Research projects

There are no projects for this person