Professor Yanick Crow (BMedSci, MBBS, MRCP, PhD) - publications

2011

• 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, 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
• Briggs, et al (2011). Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet, 43(2), 127-31. eScholarID:120415 | PMID:21217755 | DOI:10.1038/ng.748
• 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, 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

2010

• 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

2009

• Craft E, Wildig CE, Crow YJ. (2009). 3C syndrome. Am J Med Genet A, eScholarID:1d20232 | DOI:10.1002/ajmg.a.32820
• 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
• 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
• Rice, et al. (2009). Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet, 41( 7), eScholarID:1d20230 | DOI:10.1038/ng.373
• 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
• 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
• 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
• 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

2008

• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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

2007

• 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
• 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:10.1097/01.mcd.0000220617.93520.bb
• 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
• 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
• 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
• 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

2006

• 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
• 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
• 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
• 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
• 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
• 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
• 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

2005

• 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
• 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
• 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
• 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
• 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
• 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
• 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

2004

• 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, 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
• 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

2003

• 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-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. J Med Genet, 40( 3), 183-7. eScholarID:1d32012

2002

• 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
• 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
• 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
• 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

2001

• 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
• 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

2000

• 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
• 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

1999

• 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

1998

• 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
• 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
• 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
• Crow YJ, Tolmie J. (1998). Recurrence risks in mental retardation. J Med Genet, 35( 3), 177-82. eScholarID:1d32524
• 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

1997

• 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, Crossley J, Aitken D. (1997). Maternal serum alpha-fetoprotein levels in congenital nephrosis. Prenat Diagn, 17( 11), eScholarID:1d32626
• 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

1991

• 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