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
M13 9WL


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 (

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). 


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



  • Amir, I., Crow, Y. & Morar, P (2015). Adult-onset familial vocal fold paralysis. Ear Nose Throat J, 94(9), E1-3. eScholarID:275729 | PMID:26401672
  • Bursztejn, A., Briggs, T., Del Toro Duany, Y., Anderson, B., O'Sullivan, J., Williams, S., Bodemer, C., Fraitag, S., Gebhard, F., Leheup, B., Lemelle, I., Oojageer, A., Raffo, E., Schmitt, E., Rice, G., Hur, S. & Crow, Y (2015). Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: Aicardi-Goutières-Singleton-Merten overlapping syndrome. Br J Dermatol, eScholarID:275732 | PMID:26284909 | DOI:10.1111/bjd.14073
  • Crow, et al (2015). Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A, 167A(2), 296-312. eScholarID:263148 | PMID:25604658 | DOI:10.1002/ajmg.a.36887
  • Crow, Y (2015). Type I interferonopathies: mendelian type I interferon up-regulation. Curr Opin Immunol, 32, 7-12. eScholarID:263155 | PMID:25463593 | DOI:10.1016/j.coi.2014.10.005
  • Crow, Y. & Manel, N (2015). Aicardi-Goutières syndrome and the type I interferonopathies. Nat Rev Immunol, 15(7), 429-40. eScholarID:275726 | PMID:26052098 | DOI:10.1038/nri3850
  • Frémond, M., Gitiaux, C., Bonnet, D., Guiddir, T., Crow, Y., de Pontual, L. & Bader-Meunier, B (2015). Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis. Pediatrics, 136(2), e544-7. eScholarID:275730 | PMID:26216333 | DOI:10.1542/peds.2015-0724
  • Hacohen, Y., Zuberi, S., Vincent, A., Crow, Y. & Cordeiro, N (2015). Neuromyelitis optica in a child with Aicardi-Goutières syndrome. Neurology, 85(4), 381-3. eScholarID:275731 | PMID:26136517 | DOI:10.1212/WNL.0000000000001792
  • Kasher, P., Jenkinson, E., Briolat, V., Gent, D., Morrissey, C., Zeef, L., Rice, G., Levraud, J. & Crow, Y (2015). Characterization of samhd1 Morphant Zebrafish Recapitulates Features of the Human Type I Interferonopathy Aicardi-Goutières Syndrome. J Immunol, 194(6), 2819-25. eScholarID:263151 | PMID:25672750 | DOI:10.4049/jimmunol.1403157
  • King, D., Jones, W., Crow, Y., Dominiczak, A., Foster, N., Gaunt, T., Harris, J., Hellens, S., Homfray, T., Innes, J., Jones, E., Joss, S., Kulkarni, A., Mansour, S., Morris, A., Parker, M., Porteous, D., Shihab, H., Smith, B., Tatton-Brown, K., Tolmie, J., Trzaskowski, M., Vasudevan, P., Wakeling, E., Wright, M., Plomin, R., Timpson, N., Hurles, M. & . (2015). Mosaic structural variation in children with developmental disorders. Hum Mol Genet, eScholarID:263153 | PMID:25634561 | DOI:10.1093/hmg/ddv033
  • Lemos, R., Ramos, E., Legati, A., Nicolas, G., Jenkinson, E., Livingston, J., Crow, Y., Campion, D., Coppola, G. & Oliveira, J (2015). Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. Hum Mutat, eScholarID:263156 | PMID:25726928 | DOI:10.1002/humu.22778
  • Mathieu, A., Verronese, E., Rice, G., Fouyssac, F., Bertrand, Y., Picard, C., Chansel, M., Walter, J., Notarangelo, L., Butte, M., Nadeau, K., Csomos, K., Chen, D., Chen, K., Delgado, A., Rigal, C., Bardin, C., Schuetz, C., Moshous, D., Reumaux, H., Plenat, F., Phan, A., Zabot, M., Balme, B., Viel, S., Bienvenu, J., Cochat, P., van der Burg, M., Caux, C., Kemp, E., Rouvet, I., Malcus, C., Méritet, J., Lim, A., Crow, Y., Fabien, N., Ménétrier-Caux, C., De Villartay, J., Walzer, T. & Belot, A (2015). PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity. J Allergy Clin Immunol, eScholarID:263154 | PMID:25842288 | DOI:10.1016/j.jaci.2015.01.040
  • Melki, I. & Crow, Y (2015). Novel monogenic diseases causing human autoimmunity. Curr Opin Immunol, 37, 1-5. eScholarID:275733 | PMID:26262888 | DOI:10.1016/j.coi.2015.07.008
  • Morrissey, C., Schwefel, D., Ennis-Adeniran, V., Taylor, I., Crow, Y. & Webb, M (2015). The eukaryotic elongation factor eEF1A1 interacts with SAMHD1. Biochem J, 466(1), 69-76. eScholarID:242378 | PMID:25423367 | DOI:10.1042/BJ20140203
  • Munoz, J., Marque, M., Dandurand, M., Meunier, L., Crow, Y. & Bessis, D (2015). [Type I interferonopathies]. Ann Dermatol Venereol, eScholarID:275727 | PMID:26363997 | DOI:10.1016/j.annder.2015.06.018
  • Munoz, J., Rodière, M., Jeremiah, N., Rieux-Laucat, F., Oojageer, A., Rice, G., Rozenberg, F., Crow, Y. & Bessis, D (2015). Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy : A Mimic of Childhood Granulomatosis With Polyangiitis. JAMA Dermatol, eScholarID:265648 | PMID:25992765 | DOI:10.1001/jamadermatol.2015.0251
  • Rice, G., Rodero, M. & Crow, Y (2015). Human Disease Phenotypes Associated With Mutations in TREX1. J Clin Immunol, 35(3), 235-43. eScholarID:263152 | PMID:25731743 | DOI:10.1007/s10875-015-0147-3
  • Rodero, M. & Crow, Y (2015). cGMP-AMP synthase paves the way to autoimmunity. Proc Natl Acad Sci U S A, eScholarID:275728 | PMID:26450878 | DOI:10.1073/pnas.1517578112
  • Rutsch, F., MacDougall, M., Lu, C., Buers, I., Mamaeva, O., Nitschke, Y., Rice, G., Erlandsen, H., Kehl, H., Thiele, H., Nürnberg, P., Höhne, W., Crow, Y., Feigenbaum, A. & Hennekam, R (2015). A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet, 96(2), 275-82. eScholarID:263149 | PMID:25620204 | DOI:10.1016/j.ajhg.2014.12.014
  • Zhang, et al (2015). Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature, 517(7532), 89-93. eScholarID:242377 | PMID:25307056 | DOI:10.1038/nature13801


  • Belot, A., Brognard, J., Crow, Y. & Bonnefoy, N (2014). Reply to PMID 23666743. Arthritis Rheum, 66(1), 229-230. eScholarID:263191 | DOI:10.1002/art.38234
  • Belot, A., Wassmer, E., Twilt, M., Lega, J., Zeef, L., Oojageer, A., Kasher, P., Mathieu, A., Malcus, C., Demaret, J., Fabien, N., Collardeau-Frachon, S., Mechtouff, L., Derex, L., Walzer, T., Rice, G., Durieu, I. & Crow, Y (2014). Mutations in CECR1 associated with a neutrophil signature in peripheral blood. Pediatr Rheumatol Online J, 12, 44. eScholarID:242380 | PMID:25278816 | DOI:10.1186/1546-0096-12-44
  • Clifford, R., Louis, T., Robbe, P., Ackroyd, S., Burns, A., Timbs, A., Wright Colopy, G., Dreau, H., Sigaux, F., Judde, J., Rotger, M., Telenti, A., Lin, Y., Pasero, P., Maelfait, J., Titsias, M., Cohen, D., Henderson, S., Ross, M., Bentley, D., Hillmen, P., Pettitt, A., Rehwinkel, J., Knight, S., Taylor, J., Crow, Y., Benkirane, M. & Schuh, A (2014). SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage. Blood, 123(7), 1021-31. eScholarID:230903 | PMID:24335234 | DOI:10.1182/blood-2013-04-490847
  • Crow, Y. & Casanova, J (2014). STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy. N E J M, 371(6), 568-571. eScholarID:263193 | DOI:10.1056/NEJMe1407246
  • Crow, Y., Zaki, M., Abdel-Hamid, M., Abdel-Salam, G., Boespflug-Tanguy, O., Cordeiro, N., Gleeson, J., Gowrinathan, N., Laugel, V., Renaldo, F., Rodriguez, D., Livingston, J. & Rice, G (2014). Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia. Neuropediatrics, 45(6), 386-91. eScholarID:242379 | PMID:25243380 | DOI:10.1055/s-0034-1389161
  • Cuadrado, E., Vanderver, A., Brown, K., Sandza, A., Takanohashi, A., Jansen, M., Anink, J., Herron, B., Orcesi, S., Olivieri, I., Rice, G., Aronica, E., Lebon, P., Crow, Y., Hol, E. & Kuijpers, T (2014). Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies. Ann Rheum Dis, eScholarID:230901 | PMID:24906636 | DOI:10.1136/annrheumdis-2014-205396
  • Eckard, S., Rice, G., Fabre, A., Badens, C., Gray, E., Hartley, J., Crow, Y. & Stetson, D (2014). The SKIV2L RNA exosome limits activation of the RIG-I-like receptors. Nat Immunol, 15(9), 839-845. eScholarID:230905 | PMID:25064072 | DOI:10.1038/ni.2948
  • Jeremiah, N., Neven, B., Gentili, M., Callebaut, I., Maschalidi, S., Stolzenberg, M., Goudin, N., Frémond, M., Nitschke, P., Molina, T., Blanche, S., Picard, C., Rice, G., Crow, Y., Manel, N., Fischer, A., Bader-Meunier, B. & Rieux-Laucat, F (2014). Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest, 124(12), 5516-20. eScholarID:242381 | PMID:25401470 | DOI:10.1172/JCI79100
  • Keppler-Noreuil, K., Sapp, J., Lindhurst, M., Parker, V., Blumhorst, C., Darling, T., Tosi, L., Huson, S., Whitehouse, R., Jakkula, E., Grant, I., Balasubramanian, M., Chandler, K., Fraser, J., Gucev, Z., Crow, Y., Brennan, L., Clark, R., Sellars, E., Pena, L., Krishnamurty, V., Shuen, A., Braverman, N., Cunningham, M., Sutton, V., Tasic, V., Graham, J., Geer, J., Henderson, A., Semple, R. & Biesecker, L (2014). Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A, 164(7), 1713-33. eScholarID:230899 | PMID:24782230 | DOI:10.1002/ajmg.a.36552
  • Livingston, J., Lin, J., Dale, R., Gill, D., Brogan, P., Munnich, A., Kurian, M., Gonzalez-Martinez, V., De Goede, C., Falconer, A., Forte, G., Jenkinson, E., Kasher, P., Szynkiewicz, M., Rice, G. & Crow, Y (2014). A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J Med Genet, 51(2), 76-82. eScholarID:230897 | PMID:24262145 | DOI:10.1136/jmedgenet-2013-102038
  • Livingston, J., Mayer, J., Jenkinson, E., Kasher, P., Stivaros, S., Berger, A., Cordelli, D., Ferreira, P., Jefferson, R., Kutschke, G., Lundberg, S., Ounap, K., Prabhakar, P., Soh, C., Stewart, H., Stone, J., van der Knaap, M., van Esch, H., van Mol, C., Wakeling, E., Whitney, A., Rice, G. & Crow, Y (2014). Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. Neuropediatrics, 45(3), 175-82. eScholarID:230904 | PMID:24407470 | DOI:10.1055/s-0033-1364180
  • Livingston, J., Stivaros, S., Warren, D. & Crow, Y (2014). Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes. Dev Med Child Neurol, 56(7), 612-26. eScholarID:230896 | PMID:24372060 | DOI:10.1111/dmcn.12359
  • McMillin, et al (2014). Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet, 94(5), 734-44. eScholarID:230902 | PMID:24726473 | DOI:10.1016/j.ajhg.2014.03.015
  • Rice, et al (2014). Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet, 46(5), 503-9. eScholarID:230898 | PMID:24686847 | DOI:10.1038/ng.2933
  • Van Goethem, G., Livingston, J., Warren, D., Oojageer, A., Rice, G. & Crow, Y (2014). Basal Ganglia calcification in a patient with Beta-propeller protein-associated neurodegeneration. Pediatr Neurol, 51(6), 843-5. eScholarID:242376 | PMID:25301227 | DOI:10.1016/j.pediatrneurol.2014.08.017
  • Vanderver, A., Prust, M., Kadom, N., Demarest, S., Crow, Y., Helman, G., Orcesi, S., Piana, R., Uggetti, C., Wang, J., Gordisch-Dressman, H., Knaap, M. & Livingston, J (2014). Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. J Child Neurol, eScholarID:263150 | PMID:25535058 | DOI:10.1177/0883073814562252


  • Belot, A., Kasher, P., Trotter, E., Foray, A., Debaud, A., Rice, G., Szynkiewicz, M., Zabot, M., Rouvet, I., Bhaskar, S., Daly, S., Dickerson, J., Mayer, J., O'Sullivan, J., Juillard, L., Urquhart, J., Fawdar, S., Marusiak, A., Stephenson, N., Waszkowycz, B., Beresford, M., Biesecker, L., Black, G., René, C., Eliaou, J., Fabien, N., Ranchin, B., Cochat, P., Gaffney, P., Rozenberg, F., Lebon, P., Malcus, C., Crow, Y., Brognard, J. & Bonnefoy, N (2013). Protein kinase C δ deficiency causes mendelian systemic lupus erythematosus with B-cell defective apoptosis and hyperproliferation. Arthritis Rheum, eScholarID:203129 | PMID:23666743 | DOI:10.1002/art.38008
  • Crow, Y (2013). Aicardi-Goutières syndrome. Handb Clin Neurol, 113, 1629-35. eScholarID:203133 | PMID:23622384 | DOI:10.1016/B978-0-444-59565-2.00031-9
  • Crow, Y., Vanderver, A., Orcesi, S., Kuijpers, T. & Rice, G (2013). Therapies in Aicardi-Goutières Syndrome. Clin Exp Immunol, eScholarID:203142 | PMID:23607857 | DOI:10.1111/cei.12115
  • Isidor, B., Le Meur, G., Conti, C., Caldagues, E., Lainey, E., Launay, E., Leclair, M., Le Francois, T., Pichon, O., Boisseau, P., Migraine, A., Keren, B., Caignec, C., Crow, Y. & David, A (2013). Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome? Am J Med Genet A, eScholarID:203131 | PMID:23824919 | DOI:10.1002/ajmg.a.36021
  • Livingston, J., Stivaros, S., van der Knaap, M. & Crow, Y (2013). Recognizable phenotypes associated with intracranial calcification. Dev Med Child Neurol, 55(1), 46-57. eScholarID:203139 | PMID:23121296 | DOI:10.1111/j.1469-8749.2012.04437.x
  • Rehwinkel, J., Maelfait, J., Bridgeman, A., Rigby, R., Hayward, B., Liberatore, R., Bieniasz, P., Towers, G., Moita, L., Crow, Y., Bonthron, D. & Reis E Sousa, C (2013). SAMHD1-dependent retroviral control and escape in mice. EMBO J, eScholarID:203135 | PMID:23872947 | DOI:10.1038/emboj.2013.163
  • Rice, et al (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 Neurol, 12(12), 1159-69. eScholarID:230900 | PMID:24183309 | DOI:10.1016/S1474-4422(13)70258-8
  • Rice, G., Reijns, M., Coffin, S., Forte, G., Anderson, B., Szynkiewicz, M., Gornall, H., Gent, D., Leitch, A., Botella, M., Fazzi, E., Gener, B., Lagae, L., Olivieri, I., Orcesi, S., Swoboda, K., Perrino, F., Jackson, A. & Crow, Y (2013). Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi-Goutières Syndrome. Hum Mutat, 34(8), 1066-70. eScholarID:203140 | PMID:23592335 | DOI:10.1002/humu.22336
  • Takanohashi, A., Prust, M., Wang, J., Gordish-Dressman, H., Bloom, M., Rice, G., Schmidt, J., Crow, Y., Lebon, P., Kuijpers, T., Nagaraju, K. & Vanderver, A (2013). Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome. Neurology, 80(11), 997-1002. eScholarID:203130 | PMID:23408864 | DOI:10.1212/WNL.0b013e3182872694
  • Troedson, C., Wong, M., Dalby-Payne, J., Wilson, M., Dexter, M., Rice, G., Crow, Y. & Dale, R (2013). Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy. Lupus, 22(6), 639-43. eScholarID:203141 | PMID:23651859 | DOI:10.1177/0961203313486950
  • Vogt, J., Agrawal, S., Ibrahim, Z., Southwood, T., Philip, S., Macpherson, L., Bhole, M., Crow, Y. & Oley, C (2013). Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. Am J Med Genet A, 161A(2), 338-42. eScholarID:203137 | PMID:23322642 | DOI:10.1002/ajmg.a.35712


  • Anderson, et al (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature genetics, 44(3), 338. eScholarID:158686 | PMID:22267198 | DOI:10.1038/ng.1084
  • Banka, et al (2012). How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet, 20(4), 381-8. eScholarID:203134 | PMID:22126750 | DOI:10.1038/ejhg.2011.220
  • Descours, B., Cribier, A., Chable-Bessia, C., Ayinde, D., Rice, G., Crow, Y., Yatim, A., Schwartz, O., Laguette, N. & Benkirane, M (2012). SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells. Retrovirology, 9, 87. eScholarID:203138 | PMID:23092122 | DOI:10.1186/1742-4690-9-87
  • Goncalves, A., Karayel, E., Rice, G., Bennett, K., Crow, Y., Superti-Furga, G. & Bürckstümmer, T (2012). SAMHD1 is a nucleic-acid binding protein that is mislocalized due to Aicardi-Goutières syndrome-associated mutations. Hum Mutat, eScholarID:158687 | PMID:22461318 | DOI:10.1002/humu.22087
  • Goncalves, A., Karayel, E., Rice, G., Bennett, K., Crow, Y., Superti-Furga, G. & Bürckstümmer, T (2012). SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations. Hum Mutat, 33(7), 1116-22. eScholarID:203136 | PMID:22461318 | DOI:10.1002/humu.22087
  • Livingston, J., Graziano, C., Pysden, K., Crow, Y., Mordekar, S., Moroni, I. & Uziel, G (2012). Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. Dev Med Child Neurol, 54(4), 376-9. eScholarID:203132 | PMID:22150413 | DOI:10.1111/j.1469-8749.2011.04167.x
  • Rice, et al (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature genetics, 44(11), 1243. eScholarID:172064 | PMID:23001123 | DOI:10.1038/ng.2414


  • Allali, S., Le Goff, C., Pressac-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A., Crow, Y., Devriendt, K., Drouin-Garraud, V., Flori, E., Geneviève, D., Hennekam, R., Hurst, J., Krakow, D., Le Merrer, M., Lichtenbelt, K., Lynch, S., Lyonnet, S., Macdermot, K., Mansour, S., Megarbané, A., Santos, H., Splitt, M., Superti-Furga, A., Unger, S., Williams, D., Munnich, A. & Cormier-Daire, V (2011). Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet, eScholarID:120417 | PMID:21415077 | DOI:10.1136/jmg.2010.087544
  • Banka, S., Blom, H., Walter, J., Aziz, M., Urquhart, J., Clouthier, C., Rice, G., de Brouwer, A., Hilton, E., Vassallo, G., Will, A., Smith, D., Smulders, Y., Wevers, R., Steinfeld, R., Heales, S., Crow, Y., Pelletier, J., Jones, S. & Newman, W (2011). Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Am J Hum Genet, 88(2), 216-25. eScholarID:120418 | PMID:21310276 | DOI:10.1016/j.ajhg.2011.01.004
  • Briggs, et al (2011). Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nature genetics, 43(2), 127. eScholarID:120415 | PMID:21217755 | DOI:10.1038/ng.748
  • Briggs, T., Hubbard, M., Hawkins, C., Cole, T., Livingston, J., Crow, Y. & Pigott, A (2011). Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts. Mol Syndromol, 1(4), 159-162. eScholarID:120419 | PMID:21373254 | DOI:10.1159/000321559
  • Crow, Y (2011). Lupus: How much "complexity" is really (just) genetic heterogeneity? Arthritis Rheum, 63(12), 3661-4. eScholarID:146557 | PMID:22127688 | DOI:10.1002/art.30603
  • Crow, Y (2011). Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci, 1238(1), 91-8. eScholarID:146556 | PMID:22129056 | DOI:10.1111/j.1749-6632.2011.06220.x
  • Goldstone, D., Ennis-Adeniran, V., Hedden, J., Groom, H., Rice, G., Christodoulou, E., Walker, P., Kelly, G., Haire, L., Yap, M., de Carvalho, L., Stoye, J., Crow, Y., Taylor, I. & Webb, M (2011). HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Nature, 480(7377), 379-382. eScholarID:136303 | PMID:22056990 | DOI:10.1038/nature10623
  • Jenkinson, E., Kingston, H., Urquhart, J., Khan, N., Melville, A., Swinton, M., Crow, Y., Davis, J., Trump, D. & Newman, W (2011). Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3. Am J Med Genet A, eScholarID:136304 | PMID:22002932 | DOI:10.1002/ajmg.a.34292
  • Livingston, J., Doherty, D., Orcesi, S., Tonduti, D., Piechiecchio, A., La Piana, R., Tournier-Lasserve, E., Majumdar, A., Tomkins, S., Rice, G., Kneen, R., van der Knaap, M. & Crow, Y (2011). COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification. Neuropediatrics, 42(6), 227-33. eScholarID:146558 | PMID:22134833 | DOI:10.1055/s-0031-1295493
  • Livingston, J., Graziano, C., Pysden, K., Crow, Y., Mordekar, S., Moroni, I. & Uziel, G (2011). Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. Dev Med Child Neurol, eScholarID:146559 | PMID:22150413 | DOI:10.1111/j.1469-8749.2011.04167.x
  • Magro, C., Poe, J., Kim, C., Shapiro, L., Nuovo, G., Crow, M. & Crow, Y (2011). Degos Disease: A C5b-9/Interferon-{alpha}-Mediated Endotheliopathy Syndrome. Am J Clin Pathol, 135(4), 599-610. eScholarID:120413 | PMID:21411783 | DOI:10.1309/AJCP66QIMFARLZKI
  • Munot, P., Crow, Y. & Ganesan, V (2011). Paediatric stroke: genetic insights into disease mechanisms and treatment targets. Lancet Neurol, 10(3), 264-74. eScholarID:120416 | PMID:21349441 | DOI:10.1016/S1474-4422(10)70327-6
  • Ravenscroft, J., Suri, M., Rice, G., Szynkiewicz, M. & Crow, Y (2011). Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A, 155A(1), 235-7. eScholarID:120414 | PMID:21204240 | DOI:10.1002/ajmg.a.33778
  • Sakthivel, M., Hughes, S., Riley, P., Arkwright, P., Mukherjee, A., Ramsden, S., Urquhart, J. & Crow, Y (2011). Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome. Am J Med Genet A, eScholarID:136302 | PMID:22052851 | DOI:10.1002/ajmg.a.34318
  • Thibault, M., Leydet, J., Tournier-Lasserve, E., Crow, Y., Rivier, F., Echenne, B., Langlois, C., Daudet, H., Sarda, P. & Roubertie, A (2011). [Genetic syndromes that mimic congenital infections: Report of 2 cases.]. Arch Pediatr, eScholarID:136305 | PMID:21963371 | DOI:10.1016/j.arcped.2011.08.009


  • Abdel-Salam, G., El-Kamah, G., Rice, G., El-Darouti, M., Gornall, H., Szynkiewicz, M., Aymard, F., Zaki, M., Abdel-Aleem, A., Lebon, P. & Crow, Y (2010). Chilblains as a diagnostic sign of aicardi-goutières syndrome. Neuropediatrics, 41(1), 18-23. eScholarID:87978 | PMID:20571986 | DOI:10.1055/s-0030-1255059
  • Banka, S., Chervinsky, E., Newman, W., Crow, Y., Yeganeh, S., Yacobovich, J., Donnai, D. & Shalev, S (2010). Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet, eScholarID:87973 | PMID:20717171 | DOI:10.1038/ejhg.2010.136
  • Crow, Y (2010). The story of DNase II: A stifled death-wish leads to self-harm. Eur J Immunol, eScholarID:87974 | PMID:20706989 | DOI:10.1002/eji.201040829
  • Dale, R., Gornall, H., Singh-Grewal, D., Alcausin, M., Rice, G. & Crow, Y (2010). Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet A, 152A(4), 938-42. eScholarID:87980 | PMID:20358604 | DOI:10.1002/ajmg.a.33359
  • Elsaid, M., Crow, Y., Livingston, J. & Ben-Omran, T (2010). New subtype of familial intracranial calcification in a mother and two children. Am J Med Genet A, 152A(4), 943-6. eScholarID:87979 | PMID:20358605 | DOI:10.1002/ajmg.a.33360
  • Green, P., Wiseman, M., Crow, Y., Houlden, H., Riphagen, S., Lin, J., Raymond, F., Childs, A., Sheridan, E., Edwards, S. & Josifova, D (2010). Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54. Am J Hum Genet, 86(3), 485-489. eScholarID:77867 | PMID:20206331 | DOI:10.1016/j.ajhg.2010.02.006
  • Haaxma, C., Crow, Y., van Steensel, M., Lammens, M., Rice, G., Verbeek, M. & Willemsen, M (2010). A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. Am J Med Genet A, 152A(10), 2612-7. eScholarID:103805 | PMID:20799324 | DOI:10.1002/ajmg.a.33620
  • O'Driscoll, M., Daly, S., Urquhart, J., Black, G., Pilz, D., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N., Ladda, R., Sell, S., D'Arrigo, S., Squier, W., Dobyns, W., Livingston, J. & Crow, Y (2010). Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet, 87(3), 354-64. eScholarID:103806 | PMID:20727516 | DOI:10.1016/j.ajhg.2010.07.012
  • Ramesh, V., Bernardi, B., Stafa, A., Garone, C., Franzoni, E., Abinun, M., Mitchell, P., Mitra, D., Friswell, M., Nelson, J., Shalev, S., Rice, G., Gornall, H., Szynkiewicz, M., Aymard, F., Ganesan, V., Prendiville, J., Livingston, J. & Crow, Y (2010). Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol, 52(8), 725-32. eScholarID:87976 | PMID:20653736 | DOI:10.1111/j.1469-8749.2010.03727.x
  • Spiegel, R., Cliffe, S., Buckley, M., Crow, Y., Urquhart, J., Horovitz, Y., Tenenbaum-Rakover, Y., Newman, W., Donnai, D. & Shalev, S (2010). Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet, eScholarID:87977 | PMID:20619369 | DOI:10.1016/j.ejmg.2010.06.012
  • Yeo, T., Vassallo, G., Judge, M., Laycock, N., Kelsey, A. & Crow, Y (2010). Infantile neurological Degos disease. Eur J Paediatr Neurol, eScholarID:87975 | PMID:20659809 | DOI:10.1016/j.ejpn.2010.06.003


  • Abdollahi, M., Morrison, E., Sirey, T., Molnar, Z., Hayward, B., Carr, I., Springell, K., Woods, C., Ahmed, M., Hattingh, L., Corry, P., Pilz, D., Stoodley, N., Crow, Y., Taylor, G., Bonthron, D. & Sheridan, E (2009). Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet, 85(5), 737-44. eScholarID:77868 | PMID:19896110 | DOI:10.1016/j.ajhg.2009.10.007
  • Abdollahi, M., Morrison, E., Sirey, T., Molnar, Z., Hayward, B., Carr, I., Springell, K., Woods, C., Ahmed, M., Hattingh, L., Corry, P., Pilz, D., Stoodley, N., Crow, Y., Taylor, G., Bonthron, D. & Sheridan, E (2009). Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet, 85(5), 737-44. eScholarID:77982 | PMID:19896110 | DOI:10.1016/j.ajhg.2009.10.007
  • Aiello, C, Terracciano, A, Simonati, A, Discepoli, G, Cannelli, N, Claps, D, Crow, YJ, Bianchi, M, Kitzmuller, C, Longo, D, Tavoni, A, Franzoni, E, Tessa, A, Veneselli, E, Boldrini, R, Filocamo, M, Williams, R, Bertini, E, Biancheri, R, Carrozzo, R, Mole, S, Santorelli, F. (2009). Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. Hum Mutat, eScholarID:1d18542 | DOI:10.1002/humu.20975
  • Craft E, Wildig CE, Crow YJ. (2009). 3C syndrome. Am J Med Genet A, eScholarID:1d20232 | DOI:10.1002/ajmg.a.32820
  • Crow, Y. & Rehwinkel, J (2009). Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet, 18(R2), R130-6. eScholarID:77870 | PMID:19808788 | DOI:10.1093/hmg/ddp293
  • Garg, A., Subramanyam, L., Agarwal, A., Simha, V., Levine, B., D'Apice, M., Novelli, G. & Crow, Y (2009). Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab, 94(12), 4971-83. eScholarID:77869 | PMID:19875478 | DOI:10.1210/jc.2009-0472
  • Hall, D., Rice, G., Akbar, N., Meager, A., Crow, Y. & Lim, M (2009). Aicardi-Goutieres syndrome presenting with haematemesis in infancy. Acta Paediatr, 98(12), 2005-8. eScholarID:77871 | PMID:19775308 | DOI:10.1111/j.1651-2227.2009.01454.x
  • Neilson, D, Adams, M, Orr, C, Schelling, D, Eiben, R, Kerr, D, Anderson, J, Bassuk, A, Bye, A, Childs, A, Clarke, A, Crow, YJ, Di Rocco, M, Dohna-Schwake, C, Dueckers, G, Fasano, A, Gika, A, Gionnis, D, Gorman, M, Grattan-Smith, P, Hackenberg, A, Kuster, A, Lentschig, M, Lopez-Laso, E, Marco, E, Mastroyianni, S, Perrier, J, Schmitt-Mechelke, T, Servidei, S, Skardoutsou, A, Uldall, P, van der Knaap, M, Goglin, K, Tefft, D, Aubin, C, de Jager, P, Hafler, D, Warman, M. (2009). Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet, 84( 1), 44-51. eScholarID:1d18543 | DOI:10.1016/j.ajhg.2008.12.009
  • Rice, et al. (2009). Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nature Genetics, 41(7), 829-832. eScholarID:1d20230 | DOI:10.1038/ng.373
  • Uggetti, C., La Piana, R., Orcesi, S., Egitto, M., Crow, Y. & Fazzi, E (2009). Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. AJNR Am J Neuroradiol, 30(10), 1971-6. eScholarID:77872 | PMID:19628626 | DOI:10.3174/ajnr.A1694


  • Barber, J, Maloney, V, Huang, S, Bunyan, D, Cresswell, L, Kinning, E, Benson, A, Cheetham, T, Wyllie, J, Lynch, S, Zwolinski, S, Prescott, L, Crow, YJ, Morgan, R, Hobson, E. (2008). 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet, 16( 1), 18-27. eScholarID:1d18558 | DOI:10.1038/sj.ejhg.5201932
  • Briggs, T, Abdel-Salam, G, Balicki, M, Baxter, P, Bertini, E, Bishop, N, Browne, B, Chitayat, D, Chong, W, Eid, M, Halliday, W, Hughes, I, Klusmann-Koy, A, Kurian, M, Nischal, K, Rice, G, Stephenson, J, Surtees, R, Talbot, J, Tehrani, N, Tolmie, J, Toomes, C, van der Knaap, M, Crow, YJ. (2008). Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A, 146A( 2), 182-90. eScholarID:1d18556 | DOI:10.1002/ajmg.a.32080
  • Briggs, T, Wolf, N, D'Arrigo, S, Ebinger, F, Harting, I, Dobyns, W, Livingston, J, Rice, G, Crooks, D, Rowland-Hill, C, Squier, W, Stoodley, N, Pilz, D, Crow, YJ. (2008). Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Am J Med Genet A, 146A( 24), 3173-80. eScholarID:1d18544 | DOI:10.1002/ajmg.a.32614
  • Budde, B, Namavar, Y, Barth, P, Poll-The, B, Nürnberg, G, Becker, C, van Ruissen, F, Weterman, M, Fluiter, K, te, B, Aronica, E, van der Knaap, M, Höhne, W, Toliat, M, Crow, YJ, Steinling, M, Voit, T, Roelenso, F, Brussel, W, Brockmann, K, Kyllerman, M, Boltshauser, E, Hammersen, G, Willemsen, M, Basel-Vanagaite, L, Krägeloh-Mann, I, de Vries, L, Sztriha, L, Muntoni, F, Ferrie, C, Battini, R, Hennekam, R, Grillo, E, Beemer, F, Stoets, L, Wollnik, B, Nürnberg, P, Baas, F. (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet, 40( 9), 1113-8. eScholarID:1d18548 | DOI:10.1038/ng.204
  • Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow YJ. (2008). A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A, 146A( 13), 1713-7. eScholarID:1d18551 | DOI:10.1002/ajmg.a.32304
  • Crow YJ, Livingston J. (2008). Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection. Dev Med Child Neurol, 50( 6), 410-6. eScholarID:1d18554 | DOI:10.1111/j.1469-8749.2008.02062.x
  • D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Lebon P, Rice G, Crow YJ, Pantaleoni C. (2008). Aicardi-Goutières syndrome: description of a late onset case. Dev Med Child Neurol, 50( 8), 631-4. eScholarID:1d18547 | DOI:10.1111/j.1469-8749.2008.03033.x
  • De Pontual, L, Trochet, D, Caillat-Zucman, S, Abou Shenab, O, Bougneres, P, Crow, YJ, Cunningham, S, Esteva, B, Heberle, L, Leger, J, Pinto, G, Polak, M, Shafik, M, Straus, C, Trang, H, Munnich, A, Lyonnet, S, Desguerre, I, Amiel, J. (2008). Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res, 64( 6), 689-94. eScholarID:1d18550 | DOI:10.1203/PDR.0b013e318187dd0e
  • Jepps H, Seal S, Hattingh L, Crow YJ. (2008). The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection. Early Hum Dev, 84( 12), 783-5. eScholarID:1d18546 | DOI:10.1016/j.earlhumdev.2008.09.001
  • Kolivras A, Aeby A, Crow YJ, Rice G, Sass U, André J. (2008). Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus. J Cutan Pathol, 35( 8), 774-8. eScholarID:1d18553 | DOI:10.1111/j.1600-0560.2007.00900.x
  • Le Goff, C, Morice-Picard, F, Dagoneau, N, Wang, L, Perrot, C, Crow, YJ, Bauer, F, Flori, E, Prost-Squarcioni, C, Krakow, D, Ge, G, Greenspan, D, Bonnet, D, Le Merrer, M, Munnich, A, Apte, S, Cormier-Daire, V. (2008). ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet, 40( 9), 1119-23. eScholarID:1d18549 | DOI:10.1038/ng.199
  • Navarro, V, Scott, C, Briggs, T, Barete, S, Frances, C, Lebon, P, Maisonobe, T, Rice, G, Wouters, C, Crow, YJ. (2008). Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation. Am J Med Genet A, 146A( 21), 2810-5. eScholarID:1d18545 | DOI:10.1002/ajmg.a.32518
  • Orcesi, S, Pessagno, A, Biancheri, R, La Piana, R, Mascaretti, M, Rossi, A, Rice, G, Crow, YJ, Fazzi, E, Veneselli, E. (2008). Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. Eur J Paediatr Neurol, 12( 5), 408-11. eScholarID:1d18557 | DOI:10.1016/j.ejpn.2007.10.005
  • Rauch, A, Thiel, C, Schindler, D, Wick, U, Crow, YJ, Ekici, A, van Essen, A, Goecke, T, Al-Gazali, L, Chrzanowska, K, Zweier, C, Brunner, H, Becker, K, Curry, C, Dallapiccola, B, Devriendt, K, Dörfler, A, Kinning, E, Megarbane, A, Meinecke, P, Semple, R, Spranger, S, Toutain, A, Trembath, R, Voss, E, Wilson, L, Hennekam, R, de Zegher, F, Dörr, H, Reis, A. (2008). Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science, 319( 5864), 816-9. eScholarID:1d18555 | DOI:10.1126/science.1151174


  • Childs A, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ. (2007). Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. Neuropediatrics, 38( 6), 313-6. eScholarID:1d18552 | DOI:10.1055/s-2008-1065355
  • Fisher R, Pairaudeau P, Innes J, Bartlett R, Crow YJ. (2007). Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum. Clin Dysmorphol, 16( 1), 59-61. eScholarID:1d18612 | DOI:10.1097/
  • Quarrell, O, Rigby, A, Barron, L, Crow, YJ, Dalton, A, Dennis, N, Fryer, A, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P, Norman, A, Peterson, M, Raymond, F, Simpson, S, Thompson, E, Warner, J. (2007). Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study. J Med Genet, 44( 3), eScholarID:1d18560 | DOI:10.1136/jmg.2006.045120
  • Rajadhyax M, Neti G, Crow YJ, Tyagi A. (2007). Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. Brain Dev, 29( 4), 247-50. eScholarID:1d18614 | DOI:10.1016/j.braindev.2006.09.007
  • Rice, et al. (2007). Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet, 81( 4), 713-25. eScholarID:1d18559 | DOI:10.1086/521373
  • Rice, G, Newman, W, Dean, J, Patrick, T, Parmar, R, Flintoff, K, Robins, P, Harvey, S, Hollis, T, O'Hara, A, Herrick, A, Bowden, A, Perrino, F, Lindahl, T, Barnes, D, Crow, YJ. (2007). Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet, 80( 4), 811-5. eScholarID:1d18561 | DOI:10.1086/513443


  • Ali, M, Highet, L, Lacombe, D, Goizet, C, King, M, Tacke, U, van der Knaap, M, Lagae, L, Rittey, C, Brunner, H, van Bokhoven, H, Hamel, B, Oade, Y, Sanchis, A, Desguerre, I, Cau, D, Mathieu, N, Moutard, M, Lebon, P, Kumar, D, Jackson, A, Crow, YJ. (2006). A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. J Med Genet, 43( 5), 444-50. eScholarID:1d18625 | DOI:10.1136/jmg.2005.031880
  • Crow YJ, Goodship J, Wright C, Coady A, Conley M, Gennery A. (2006). A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features. Am J Med Genet A, 140( 11), 1131-5. eScholarID:1d18618 | DOI:10.1002/ajmg.a.31275
  • Crow, et al. (2006). Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet, 38( 8), 910-6. eScholarID:1d18616 | DOI:10.1038/ng1842
  • Crow, YJ, Hayward, B, Parmar, R, Robins, P, Leitch, A, Ali, M, Black, D, van Bokhoven, H, Brunner, H, Hamel, B, Corry, P, Cowan, F, Frints, S, Klepper, J, Livingston, J, Lynch, S, Massey, R, Meritet, J, Michaud, J, Ponsot, G, Voit, T, Lebon, P, Bonthron, D, Jackson, A, Barnes, D, Lindahl, T. (2006). Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet, 38( 8), 917-20. eScholarID:1d18617 | DOI:10.1038/ng1845
  • Desanges C, Lebon P, Bauman C, Vuillard E, Garel C, Cordesse A, Oury J, Crow YJ, Luton D. (2006). Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome. Fetal Diagn Ther, 21(1), 153-155. eScholarID:1d18620 | DOI:10.1159/000089067
  • English S, Gayatri N, Arthur R, Crow YJ. (2006). Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. Am J Med Genet A, 140A( 17), 1854-8. eScholarID:1d18615 | DOI:10.1002/ajmg.a.31376
  • Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, Crow YJ. (2006). Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. Eur J Med Genet, 49( 5), 396-401. eScholarID:1d18619 | DOI:10.1016/j.ejmg.2006.01.004
  • James P, Cader M, Muntoni F, Childs A, Crow YJ, Talbot K. (2006). Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology, 67( 9), 1710-2. eScholarID:1d18613 | DOI:10.1212/01.wnl.0000242619.52335.bc


  • Crow YJ. (2005). Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome. Am J Med Genet A, 137( 2), eScholarID:1d18623 | DOI:10.1002/ajmg.a.30870
  • Dipti S, Childs A, Livingston J, Aggarwal A, Miller M, Williams C, Crow YJ. (2005). Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev, 27( 6), 443-6. eScholarID:1d18621 | DOI:10.1016/j.braindev.2004.10.003
  • Kirby D, Jackson A, Karbani G, Crow YJ. (2005). Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder. Clin Genet, 67( 5), 448-9. eScholarID:1d18627 | DOI:10.1111/j.1399-0004.2005.00429.x
  • Puthuran M, Rowland-Hill C, Simpson J, Pairaudeau P, Mabbott J, Morris S, Crow YJ. (2005). Chromosome 1q42 deletion and agenesis of the corpus callosum. Am J Med Genet A, 138( 1), 68-9. eScholarID:1d18622 | DOI:10.1002/ajmg.a.30888
  • Sanchis A, Cerveró L, Bataller A, Tortajada J, Huguet J, Crow YJ, Ali M, Higuet L, Martínez-Frías M. (2005). Genetic syndromes mimic congenital infections. J Pediatr, 146( 5), 701-5. eScholarID:1d18626 | DOI:10.1016/j.jpeds.2005.01.033
  • Scott A, Yeung S, Dickinson D, Karbani G, Crow YJ. (2005). Natural history of cardiac involvement in geleophysic dysplasia. Am J Med Genet A, 132A( 3), 320-3. eScholarID:1d18628 | DOI:10.1002/ajmg.a.30450
  • Zweier, et al. (2005). Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet, 48( 2), 97-111. eScholarID:1d18624 | DOI:10.1016/j.ejmg.2005.01.003


  • Bartels, C, Bükülmez, H, Padayatti, P, Rhee, D, van Ravenswaaij-Arts, C, Pauli, R, Mundlos, S, Chitayat, D, Shih, L, Al-Gazali, L, Kant, S, Cole, T, Morton, J, Cormier-Daire, V, Faivre, L, Lees, M, Kirk, J, Mortier, G, Leroy, J, Zabel, B, Kim, C, Crow, YJ, Braverman, N, van den Akker, F, Warman, M. (2004). Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet, 75( 1), 27-34. eScholarID:1d32011 | DOI:10.1086/422013
  • Borozdin W, Wright M, Hennekam R, Hannibal M, Crow YJ, Neumann T, 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. J Med Genet, 41( 8), eScholarID:1d31945 | DOI:10.1136/jmg.2004.019505
  • Crow, YJ, Massey, R, Innes, J, Pairaudeau, P, Rowland Hill, C, Woods, C, Ali, M, Livingston, J, Lebon, P, Nischall, K, McEntagart, M, Hindocha, N, Winter, R. (2004). Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome. Am J Med Genet A, 129A( 3), 303-7. eScholarID:1d32226 | DOI:10.1002/ajmg.a.30250
  • Crow, YJ, McMenamin, J, Haenggeli, C, Hadley, D, Tirupathi, S, Treacy, E, Zuberi, S, Browne, B, Tolmie, J, Stephenson, J. (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), 10-9. eScholarID:1d32522 | DOI:10.1055/s-2003-43552


  • Crow, YJ, Black, D, Ali, M, Bond, J, Jackson, A, Lefson, M, Michaud, J, Roberts, E, Stephenson, J, Woods, C, 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. eScholarID:1d32012 | DOI:10.1136/jmg.40.3.183


  • Bond, J, Roberts, E, Mochida, G, Hampshire, D, Scott, S, Askham, J, Springell, K, Mahadevan, M, Crow, YJ, Markham, A, Walsh, C, Woods, C. (2002). ASPM is a major determinant of cerebral cortical size. Nat Genet, 32( 2), 316-20. eScholarID:1d32420 | DOI:10.1038/ng995
  • Crow YJ. (2002). The genetics of Aicardi-Goutières syndrome. Eur J Paediatr Neurol, 6 Suppl A, A33-5; discussion A37-9, A77-86. eScholarID:1d32212
  • Jackson, A, Eastwood, H, Bell, S, Adu, J, Toomes, C, Carr, I, Roberts, E, Hampshire, D, Crow, YJ, Mighell, A, Karbani, G, Jafri, H, Rashid, Y, Mueller, R, Markham, A, Woods, C. (2002). Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet, 71( 1), 136-42. eScholarID:1d32213 | DOI:10.1086/341283
  • Roberts, E, Hampshire, D, Pattison, L, Springell, K, Jafri, H, Corry, P, Mannon, J, Rashid, Y, Crow, YJ, Bond, J, Woods, C. (2002). Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet, 39( 10), 718-21. eScholarID:1d32419 | DOI:10.1136/jmg.39.10.718


  • Hampshire D, Roberts E, Crow YJ, Bond J, Mubaidin A, Wriekat A, Al-Din A, Woods C. (2001). Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. J Med Genet, 38( 10), 680-2. eScholarID:1d32013
  • Henwood, J, Pickard, C, Leek, J, Bennett, C, Crow, YJ, Thompson, J, Ahmed, M, Watterson, K, Parsons, J, Roberts, E, Lench, N. (2001). A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome? J Med Genet, 38( 8), 533-6. eScholarID:1d32523 | DOI:10.1136/jmg.38.8.533


  • Crow, YJ, Jackson, A, Roberts, E, van Beusekom, E, Barth, P, Corry, P, Ferrie, C, Hamel, B, Jayatunga, R, Karbani, G, Kálmánchey, R, Kelemen, A, King, M, Kumar, R, Livingstone, J, Massey, R, McWilliam, R, Meager, A, Rittey, C, Stephenson, J, Tolmie, J, Verrips, A, Voit, T, van Bokhoven, H, Brunner, H, Woods, C. (2000). Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet, 67( 1), 213-21. eScholarID:1d31946 | DOI:10.1086/302955
  • Pattison L, Crow YJ, Deeble V, Jackson A, Jafri H, Rashid Y, Roberts E, Woods C. (2000). A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet, 67( 6), 1578-80. eScholarID:1d32014 | DOI:10.1086/316910


  • Stephenson, J, Greene, N, Leung, K, Munroe, P, Mole, S, Gardiner, R, Taschner, P, O'Regan, M, Naismith, K, Crow, YJ, Mitchison, H. (1999). The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. Mol Genet Metab, 66( 4), 245-7. eScholarID:1d32227 | DOI:10.1006/mgme.1999.2831


  • Crow YJ, Tolmie J. (1998). Recurrence risks in mental retardation. J Med Genet, 35( 3), 177-82. eScholarID:1d32524
  • Crow YJ, Zuberi S, McWilliam R, Tolmie J, Hollman A, Pohl K, Stephenson J. (1998). "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. J Med Genet, 35( 2), 94-8. eScholarID:1d32625
  • Ghaffari S, Boyd E, Tolmie J, Crow YJ, Trainer A, Connor J. (1998). A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J Med Genet, 35( 3), 225-33. eScholarID:1d32293
  • Mitchison, H, Hofmann, S, Becerra, C, Munroe, P, Lake, B, Crow, YJ, Stephenson, J, Williams, R, Hofman, I, Taschner, P, Martin, J, Philippart, M, Andermann, E, Andermann, F, Mole, S, Gardiner, R, 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), 291-7. eScholarID:1d31953
  • Munroe P, Greene N, Leung K, Mole S, Gardiner R, Mitchison H, Stephenson J, Crow YJ. (1998). Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. J Med Genet, 35( 9), eScholarID:1d32153
  • Reid E, Douglas F, Crow YJ, Hollman A, Gibson J. (1998). Autosomal dominant juvenile recurrent parotitis. J Med Genet, 35( 5), 417-9. eScholarID:1d32228


  • Crow YJ, Tolmie J, Crossley J, Aitken D. (1997). Maternal serum alpha-fetoprotein levels in congenital nephrosis. Prenat Diagn, 17( 11), eScholarID:1d32626
  • Crow YJ, Tolmie J, Howatson A, Patrick W, Stephenson J. (1997). Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits. Neuropediatrics, 28( 3), 140-4. eScholarID:1d32214
  • Crow YJ, Tolmie J, Rippard K, Nairn L, Wilkinson A, Turner T. (1997). Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation. Clin Dysmorphol, 6( 4), 347-50. eScholarID:1d32421


  • Crow YJ, Alberti K, Parkin J. (1991). Insulin dependent diabetes in childhood and material deprivation in northern England, 1977-86. BMJ, 303( 6795), 158-60. eScholarID:1d32215

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