
Professor Robert Richards
Head of Discipline of Genetics
School of Biological Sciences
Faculty of Sciences
Eligible to supervise Masters and PhD - email supervisor to discuss availability.
Research into a common mechanism for neurodegenerative diseases that have genetic hallmarks of autoinflammatory disease mechanism.
See https://doi.org/10.1093/hmg/ddy139
Dynamic Mutation Disorders: Mechanism of Pathogenesis in Neurodegenerative Repeat Expansion Diseases
The term “dynamic mutation” was introduced to distinguish the unique properties of expanding, unstable DNA repeat sequences from other forms of mutation (Richards, 2001b). The past two decades have seen dynamic mutations uncovered as the molecular basis for a growing number of human genetic diseases (including Huntington’s Disease) in addition to all of the characterised ‘rare’ chromosomal fragile sites. The common properties of the repeats in different diseases and fragile sites have given insight into this unique form of DNA instability. While the dynamic mutation mechanism explains some of the unusual genetic characteristics of the relevant diseases, unexpected findings have raised new questions and challenged some assumptions about the pathways that lead from mutation to disease (Richards and McLeod 2005). This project is aimed at understanding the molecular mechanisms involved in the pathogenic pathways that lead from expanded repeats to the diseases with which they are associated (McLeod et al., 2005; Lawlor et al., 2011; Samaraweera et al., 2013).
Is there a Common Pathogenic Pathway in the Dynamic Mutation Diseases? – Studies in Drosophila
Several human genetic diseases are thought to be caused by polyglutamine repeats that expand in copy number beyond a threshold (e.g. Huntington’s disease). There are, however, numerous other neurodegenerative diseases that have very similar clinical symptoms to the polyglutamine diseases and are due to expanded repeats, but these repeats cannot encode polyglutamine. We have therefore used transgenic Drosophila models of these repeat expansion diseases in order to test hypotheses in regard to whether there might be common pathogenic pathways for dynamic mutation diseases.
Expanded CAG.CUG repeat double stranded RNA causes pathology when expressed in Drosophila. Repeat dsRNA is recognized by Dicer2 as a foreign or 'non-self' molecule triggering both antiviral RNA and RNAi pathways. Neither of the RNAi pathway cofactors R2D2 nor loquacious are necessary, indicating antiviral RNA activation. RNA modification enables avoidance of recognition as 'non-self' by the innate inflammatory surveillance system. Human ADAR1 edits RNA conferring 'self' status and when co-expressed with expanded CAG.CUG dsRNA in Drosophila the pathology is lost. Cricket Paralysis Virus protein CrPV-1A is a known antagonist of Argonaute2 in Drosophila antiviral defense. CrPV-1A co-expression also rescues pathogenesis, confirming anti-viral-RNA response. Repeat expansion mutation therefore confers 'non-self' recognition of endogenous RNA, thereby providing a proximal, autoinflammatory trigger for expanded repeat neurodegenerative diseases.(van Eyk et al., 2019)
Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease
The notion that one common pathogenic pathway could account for the various clinically distinguishable, typically late-onset neurodegenerative diseases might appear unlikely given the plethora of diverse primary causes of neurodegeneration. On the contrary, an autoinflammatory pathogenic mechanism allows diverse genetic and environmental factors to converge into a common chain of causality. Inflammation has long been known to correlate with neurodegeneration. Until recently this relationship was seen as one of consequence rather than cause—with inflammatory cells and events acting to ‘clean up the mess’ after neurological injury. This explanation is demonstrably inadequate and it is now clear that inflammation is at the very least, rate-limiting for neurodegeneration (and more likely, a principal underlying cause in most if not all neurodegenerative diseases), protective in its initial acute phase, but pernicious in its latter chronic phase (Richards et al., 2018)
Inflammation is activated prior to symptoms in neurodegenerative diseases, providing a plausible pathogenic mechanism for cell death. Indeed genetic and pharmacological ablation studies in animal models of several neurodegenerative diseases demonstrate that inflammation is required for pathology. However, while there is growing evidence that inflammation-mediated cell death may be the common mechanism underlying neurodegenerative diseases, including those due to dominantly inherited expanded repeats, the proximal causal agent is unknown. We have assembled a growing body of evidence that an autoinflammatory mechanism is the common pathogenic pathway for many (perhaps al) neurodegenerative diseases (Richards et al., 2018). We are utilizing the experimental advantages of the Drosophila model system to test this hypothesis (van Eyk et al., 2019).
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Appointments
Date Position Institution name 2008 Professor The University of Adelaide 2001 - 2008 Associate Professor The Univeristy of Adelaide -
Research Interests
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Journals
Year Citation 2019 Eyk, C. L., Samaraweera, S. E., Scott, A., Webber, D. L., Harvey, D. P., Mecinger, O., . . . Richards, R. I. (2019). Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases. Human Molecular Genetics, 28(18), 3000-3012.
Scopus3 WoS2 Europe PMC22018 Richards, R., Robertson, S., & Kastner, D. (2018). Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease. Human Molecular Genetics, 27(R2), 108-118.
Scopus8 WoS8 Europe PMC32018 Webber, D., Choo, A., Hewson, L., Trim, P., Snel, M., Hopwood, J., . . . O'Keefe, L. (2018). Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA. Experimental Neurology, 303, 38-47.
Scopus7 WoS6 Europe PMC42016 Klionsky, D. J., Abdelmohsen, K., Abe, A., Abedin, M. J., Abeliovich, H., Arozena, A. A., . . . Bagniewska-Zadworna, A. (2016). Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356. Autophagy, 12(2), 443.
Scopus2522016 Pelttari, L. M., Khan, S., Vuorela, M., Kiiski, J. I., Vilske, S., Nevanlinna, V., . . . Andrews, L. (2016). RAD51B in familial breast cancer. PLoS ONE, 11(5), e0153788.
Scopus14 Europe PMC72016 Klionsky, D., Abdelmohsen, K., Abe, A., Abedin, M., Abeliovich, H., Arozena, A., . . . Bagniewska-Zadworna, A. (2016). Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy, 12(1), 1-222.
Scopus2871 WoS2887 Europe PMC20202016 Richards, R., Robertson, S., O'Keefe, L., Fornarino, D., Scott, A., Lardelli, M., & Baune, B. (2016). The enemy within: innate surveillance-mediated cell death, the common mechanism of neurodegenerative disease. Frontiers in Neuroscience, 10(MAY), 193-1-193-20.
Scopus20 WoS19 Europe PMC152015 Choo, A., O'Keefe, L., Lee, C., Gregory, S., Shaukat, Z., Colella, A., . . . Richards, R. (2015). Tumor suppressor WWOX moderates the mitochondrial respiratory complex. Genes Chromosomes and Cancer, 54(12), 745-761.
Scopus13 WoS10 Europe PMC112015 Richards, R., Choo, A., Lee, C., Dayan, S., & O Keefe, L. (2015). WWOX, the chromosomal fragile site FRA16D spanning gene: its role in metabolism and contribution to cancer. Experimental Biology and Medicine, 240(3), 338-344.
Scopus16 WoS14 Europe PMC122015 Sobral-Leite, M., Wesseling, J., Smit, V., Nevanlinna, H., van Miltenburg, M., Sanders, J., . . . Christian, A. (2015). Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis. BMC Medicine, 13(1), 1-11.
Scopus31 Europe PMC192015 O'Keefe, L., Lee, C., Choo, A., & Richards, R. (2015). Tumor suppressor WWOX contributes to the elimination of tumorigenic cells in drosophila melanogaster. PLoS One, 10(8), e0136356-1-e0136356-19.
Scopus9 WoS9 Europe PMC92014 Shaukat, Z., Liu, D., Choo, A., Hussain, R., O'Keefe, L., Richards, R., . . . Gregory, S. (2014). Chromosomal instability causes sensitivity to metabolic stress. Oncogene, 34(31), 4044-4055.
Scopus21 WoS21 Europe PMC192013 Dayan, S., O'Keefe, L., Choo, A., & Richards, R. (2013). Common chromosomal fragile site FRA16D tumor suppressor WWOX gene expression and metabolic reprograming in cells. Genes Chromosomes & Cancer, 52(9), 823-831.
Scopus17 WoS17 Europe PMC172013 Samaraweera, S., O'Keefe, L., Price, G., Venter, D., & Richards, R. (2013). Distinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases. Human Molecular Genetics, 22(14), 2811-2819.
Scopus15 WoS14 Europe PMC92013 Richards, R., Samaraweera, S., van Eyk, C., O'Keefe, L., & Suter, C. (2013). RNA pathogenesis via Toll-like receptor-activated inflammation in expanded repeat neurodegenerative diseases. Frontiers in Molecular Neuroscience, 6(SEP), 1-9.
Scopus9 WoS6 Europe PMC62012 Lawlor, K., O'Keefe, L., Samaraweera, S., van Eyk, C., & Richards, R. (2012). Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology. PLoS One, 7(6), 1-14.
Scopus9 WoS7 Europe PMC42012 van Eyk, C., McLeod, C., O'Keefe, L., & Richards, R. (2012). Comparative toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease. Human Molecular Genetics, 21(3), 536-547.
Scopus18 WoS16 Europe PMC142011 Lawlor, K., O'Keefe, L., Samaraweera, S., van Eyk, C., McLeod, C., Maloney, C., . . . Richards, R. (2011). Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases. Human Molecular Genetics, 20(19), 3757-3768.
Scopus39 WoS34 Europe PMC272011 van Eyk, C., O'Keefe, L., Lawlor, K., Samaraweera, S., McLeod, C., Price, G., . . . Richards, R. (2011). Perturbation of the Akt/Gsk3-beta signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs. Human Molecular Genetics, 20(14), 2783-2794.
Scopus24 WoS22 Europe PMC192011 O'Keefe, L., Colella, A., De Barros Lopes, S., Chen, Q., Choo, A., Jacob, R., . . . Richards, R. (2011). Drosophila orthologue of WWOX, the chromosomal fragile site FRA16D tumour suppressor gene, functions in aerobic metabolism and regulates reactive oxygen species. Human Molecular Genetics, 20(3), 497-509.
Scopus35 WoS35 Europe PMC332009 Henshall, T., Tucker, B., Lumsden, A., Nornes, S., Lardelli, M., & Richards, R. (2009). Selective neuronal requirement for Huntingtin in the developing zebrafish. Human Molecular Genetics, 18(24), 4830-4842.
Scopus29 WoS29 Europe PMC222007 Easton, D., Pooley, K., Pharoah, P., Thompson, D., Ballinger, D., Struewing, J., . . . Ponder, B. (2007). Genome wide association study identifies novel breat cancer susceptibility loci. Nature, 447(7148), 1087-1095.
Scopus1786 WoS1693 Europe PMC13712007 O'Keefe, L., Smibert, P., Colella, A., Chataway, T., Saint, R., & Richards, R. (2007). Know thy fly. Trends in Genetics, 23(5), 238-242.
Scopus17 WoS16 Europe PMC112007 Lumsden, A., Henshall, T., Dayan, S., Lardelli, M., & Richards, R. (2007). Huntingtin-deficient zebrafish exhibit defects in iron utilization and development. Human Molecular Genetics, 16(16), 1905-1920.
Scopus116 WoS112 Europe PMC802006 O'Keefe, L., Liu, Y., Perkins, A., Dayan, S., Saint, R., & Richards, R. (2006). Corrigendum: FRA16D common chromosomal fragile site oxido-reductase (FOR/WWOX) protects against the effects of ionizing radiation in Drosophila. Oncogene, 25(58), 7662.
Scopus1 WoS12006 Tucker, B., Richards, R., & Lardelli, M. (2006). Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. Human Molecular Genetics, 15(23), 3446-3458.
Scopus93 WoS92 Europe PMC722006 O'Keefe, L., & Richards, R. (2006). Common chromosomal fragile sites and cancer: Focus on FRA16D. Cancer Letters, 232(1), 37-47.
Scopus62 WoS59 Europe PMC452005 McLeod, C., O'Keefe, L., & Richards, R. (2005). The pathogenic agent in Drosophila models of 'polyglutamine' diseases. Human Molecular Genetics, 14(8), 1041-1048.
Scopus35 WoS33 Europe PMC282005 Miksch, S., Lumsden, A., Guenther, U., Foernzler, D., Christen-Zach, S., Daugherty, C., . . . Struk, B. (2005). Molecular genetics of pseudoxanthoma elasticum: Type and frequency of mutations in ABCC6. Human Mutation, 26(3), 235-248.
Scopus74 WoS64 Europe PMC562005 Finnis, M., Dayan, S., Hobson, L., Chenevix-Trench, G., Friend, K., Ried, K., . . . Richards, R. (2005). Common chromosomal fragile site FRA16D mutation in cancer cells. Human Molecular Genetics, 14(10), 1341-1349.
Scopus63 WoS62 Europe PMC542005 Richards, R., & McLeod, C. (2005). RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila (review). Chemtracts, 18(3), 153-158. 2005 O'Keefe, L., Liu, Y., Perkins, A., Dayan, S., Saint, R., & Richards, R. (2005). FRA16D common chromosomal fragile site oxido-reductase (FOR/WWOX) protects against the effects of ionizing radiation in Drosophila. Oncogene, 24(43), 6590-6596.
Scopus19 WoS19 Europe PMC142004 La Spada, A., Richards, R., & Wieringa, B. (2004). Dynamic mutations on the move in Banff. Nature Genetics, 36(7), 667-670.
Scopus13 Europe PMC82004 Dudding, T., Friend, K., Schofield, P., Lee, S., Wilkinson, I., & Richards, R. (2004). Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology, 63(12), 2288-2292.
Scopus62 WoS49 Europe PMC312004 Tucker, B., Richards, R., & Lardelli, M. (2004). Expression of three zebrafish orthologs of human FMR1-related genes and their phylogenetic relationships. Development Genes and Evolution, 214(11), 567-574.
Scopus29 WoS27 Europe PMC192001 Richards, R. (2001). Fragile and unstable chromosomes in cancer: causes and consequences. Trends in Genetics, 17(6), 339-345.
Scopus191 WoS180 Europe PMC1402001 Richards, R. (2001). Dynamic mutations: a decade of unstable expanded repeats in human genetic disease. Human Molecular Genetics, 10(20), 2187-2194.
Scopus83 WoS72 Europe PMC452001 Cai, L., Lumsden, A., Guenther, U., Nelder, S., Zach, S., Knoblauch, H., . . . Struk, B. (2001). A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. Journal of Molecular Medicine-JMM, 79(9), 536-546.
Scopus41 WoS39 Europe PMC312000 Ried, K., Finnis, M., Hobson, L., Mangelsdorf, M., Dayan, S., Nancarrow, J., . . . Richards, R. (2000). Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells. Human Molecular Genetics, 9(11), 1651-1663.
Scopus235 WoS223 Europe PMC1852000 Mangelsdorf, M., Ried, K., Woollatt, E., Dayan, S., Eyre, H., Finnis, M., . . . Richards, R. (2000). Chromosomal fragile site FRA16D and DNA instability in cancer. Cancer Research, 60(6), 1683-1689.
Scopus102 WoS102 Europe PMC752000 Handt, O., Sutherland, G., & Richards, R. (2000). Fragile sites and minisatellite repeat instability. Molecular Genetics and Metabolism, 70(2), 99-105.
Scopus30 WoS25 Europe PMC172000 Handt, O., Baker, E., Dayan, S., Gartler, S., Woollatt, E., Richards, R., & Hansen, R. (2000). Analysis of replication timing at the FRA10B and FRA16B fragile site loci. Chromosome Research, 8(8), 677-688.
Scopus32 WoS30 Europe PMC212000 Cai, L., Struk, B., Adams, M., Ji, W., Haaf, T., Kang, H., . . . Lindpaintner, K. (2000). A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: High-resolution mapping and genomic structure. Journal of Molecular Medicine, 78(1), 36-46.
Scopus51 WoS50 Europe PMC372000 Struk, B., Cai, L., Zäch, S., Ji, W., Chung, J., Lumsden, A., . . . Lindpaintner, K. (2000). Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. Journal of Molecular Medicine, 78(5), 282-286.
Scopus103 Europe PMC631999 Sutherland, G., Baker, E., & Richards, R. (1999). Okazaki fragments in dynamic mutation. TRENDS IN GENETICS, 15(1), 10. 1999 Sutherland, G., Gecz, J., Gedeon, A., Mulley, J., Richards, R., & Yu, S. (1999). Fragile sites, DNA methylation and mental retardation.. MOLECULAR PSYCHIATRY, 4, S19. 1999 Sutherland, G., & Richards, R. (1999). Human Genetics '99: Trinucleotide Repeats Fragile Sites-Cytogenetic Similarity with Molecular Diversity. American Journal of Human Genetics, 64(2), 354-359.
Scopus311999 Friend, K., Crimmins, D., Phan, T., Sue, C., Colley, A., Fung, V., . . . Richards, R. (1999). Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. Human Genetics, 105(3), 261-265.
Scopus58 WoS50 Europe PMC391999 Sutherland, G. R., & Richards, R. I. (1999). Fragile sites - Cytogenetic similarity with molecular diversity. AMERICAN JOURNAL OF HUMAN GENETICS, 64(2), 354-359.
WoS29 Europe PMC171998 Benson, K., Horwitz, M., Wolff, J., Friend, K., Thompson, E., White, S., . . . Bird, T. (1998). CAG repeat expansion in autosomal dominant familial spastic paraparesis - novel expansion in a subset of patients. Human Molecular Genetics, 7(11), 1779-1786.
Scopus24 WoS21 Europe PMC131998 Centola, M., Chen, X., Sood, R., Deng, Z., Aksentijevich, I., Blake, T., . . . Kastner, D. (1998). Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3. Genome Research, 8(11), 1172-1191.
Scopus11 WoS9 Europe PMC41998 Sutherland, G., Baker, E., & Richards, R. (1998). Fragile sites still breaking [Review]. Trends in Genetics, 14(12), 501-506.
Scopus143 WoS129 Europe PMC911998 Hewett, D., Handt, O., Hobson, L., Mangelsdorf, M., Eyre, H., Baker, E., . . . Richards, R. (1998). FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis. Molecular Cell, 1(6), 773-781.
Scopus76 WoS69 Europe PMC481997 Narahara, K., Baker, E., Ito, S., Yokoyama, Y., Yu, S., Hewitt, D., . . . Richards, R. (1997). Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. Journal of Medical Genetics, 34(3), 213-216.
Scopus47 WoS42 Europe PMC261997 Aksentijevich, I., Centola, M., Deng, Z., Sood, R., Balow, J., Wood, G., . . . Doggett, N. (1997). Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever. Cell, 90(4), 797-807.
Scopus1164 WoS1042 Europe PMC2871997 Horwitz, M., Benson, K., Li, F. Q., Wolff, J., Leppert, M., Hobson, L., . . . Raskind, W. (1997). Genetics heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2. American Journal of Human Genetics, 61(4), 873-881.
Scopus39 WoS34 Europe PMC251997 Balow Jnr., J., Shelton, D., Orsborn, A., Mangelsdorf, M., Aksentijevich, I., Blake, T., . . . Kastner, D. (1997). A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups. Genomics, 44(3), 280-291.
Scopus41 WoS40 Europe PMC241997 Sood, R., Blake, T., Aksentijevich, I., Wood, G., Chen, X., Gardner, D., . . . Doggett, N. (1997). Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the Familial Mediterranean Fever Locus (MEFV) on chromosome 16p13.3. Genomics, 42(1), 83-95.
Scopus21 WoS19 Europe PMC111997 Somers, G., Hammet, F., Woollatt, E., Richards, R., Southey, M., & Venter, D. (1997). Chromosomal localisation of the human P2y6 purinoceptor gene and phylogenetic analysis of the P2y purinoceptor family. Genomics, 44(1), 127-130.
Scopus10 WoS9 Europe PMC51997 Yu, S., Mangelsdorf, M., Hewett, D., Hobson, L., Baker, E., Eyre, H., . . . Richards, R. (1997). Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell, 88(3), 367-374.
Scopus166 WoS157 Europe PMC1031997 Richards, R., & Sutherland, G. (1997). Dynamic mutation: possible mechanisms and significance in human disease. Trends in Biochemical Sciences, 22(11), 432-437.
Scopus78 WoS71 Europe PMC531997 Collod-Beroud, G., Beroud, C., Ades, L., Black, C., Boxer, M., Brock, D., . . . Boileau, C. (1997). Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acids Research, 25(1), 147-150.
Scopus25 WoS28 Europe PMC211997 Byatt, S., Baker, E., Richards, R., Roberts, C., & Smith, A. (1997). Unbalanced t(4;11)(q32-q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes. American Journal of Medical Genetics, 70(4), 357-360.
Scopus10 WoS10 Europe PMC71997 Horwitz, M., Benson, K. F., Li, F. Q., Wolff, J., Leppert, M. F., Olopade, F., . . . Raskind, W. H. (1997). A chromosome 16 locus for familial leukemia.. AMERICAN JOURNAL OF HUMAN GENETICS, 61(4), A69. 1996 Richards, R., Crawford, J., Narahara, K., Mangelsdorf, M., Friend, K., Staples, A., . . . Sutherland, G. (1996). Dynamic mutation loci: Allele distributions in different populations. Annals of Human Genetics, 60(5), 391-400.
Scopus23 WoS23 Europe PMC111996 Levy, E., Shen, Y., Kupelian, A., Kruglyak, L., Aksentijevich, I., Pras, E., . . . Kastner, D. (1996). Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246. American Journal of Human Genetics, 58(3), 523-534.
Scopus20 WoS24 Europe PMC141996 Sutherland, G. R., & Richards, R. I. (1996). Unusual inheritance patterns due to dynamic mutation in fragile X syndrome. CIBA Foundation Symposia, 197(197), 119-136.
Scopus3 WoS2 Europe PMC11996 Richards, R., & Sutherland, G. (1996). REPEAT OFFENDERS - SIMPLE REPEAT SEQUENCES AND COMPLEX GENETIC PROBLEMS [Review]. Human Mutation, 8(1), 1-7.
WoS24 Europe PMC131996 Ades, L., Haan, E., Colley, A., & Richards, R. (1996). Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome. Journal of Medical Genetics, 33(8), 665-671.
Scopus30 WoS25 Europe PMC181996 Richards, R. I., & Sutherland, G. R. (1996). Repeat offenders: Simple repeat sequences and complex genetic problems. Human Mutation, 8(1), 1-7.
Scopus181995 Nancarrow, J., Holman, K., Hori, T., Denton, M., Sutherland, G., & Richards, R. (1995). Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus. Human Molecular Genetics, 4(3), 367-372.
Scopus34 WoS35 Europe PMC201995 Sutherland, G., & Richards, R. (1995). Fragile X syndrome and other dynamic mutation diseases. Southeast Asian Journal of Tropical Medicine and Public Health, 26(1), 77-85. 1995 Sutherland, G., & Richards, R. (1995). Simple tandem DNA repeats and human genetic disease. Proceedings of the National Academy of Sciences of the United States of America, 92(9), 3636-3641.
Scopus289 WoS295 Europe PMC1541995 Jones, C., Penny, L., Mattina, T., Yu, S., Baker, E., Voullaire, L., . . . Tunnacliffe, A. (1995). Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature, 376(6536), 145-149.
Scopus167 WoS126 Europe PMC1041995 Sutherland, G., & Richards, R. (1995). The molecular basis of fragile sites in human chromosomes. Current Opinion in Genetics and Development, 5(3), 323-327.
Scopus89 WoS85 Europe PMC621995 Mulley, J., Yu, S., Loesch, D., Hay, D., Donnelly, A., Gedeon, A., . . . Sutherland, G. (1995). FRAXE and mental retardation. Journal of Medical Genetics, 32(3), 162-169.
Scopus70 WoS75 Europe PMC551995 JONES, C., PENNY, L., MATTINA, T., YU, S., BAKER, E., VOULLAIRE, L., . . . TUNNACLIFFE, A. (1995). THE FRAGILE SITE FRA11B IS LOCATED WITHIN THE PROTOONCOGENE CBL2 AND IS ASSOCIATED WITH A CHROMOSOME DELETION SYNDROME. AMERICAN JOURNAL OF HUMAN GENETICS, 57(4), 85. 1994 Sutherland, G., & Richards, R. (1994). DNA repeats — a treasury of human variation. New England Journal of Medicine, 331(3), 191-193.
Scopus30 WoS24 Europe PMC181994 Jones, C., Slljepcevic, P., Marsh, S., Baker, E., Langdon, W., Richards, R., & Tunnacliffe, A. (1994). Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23. 3. Human Molecular Genetics, 3(12), 2123-2130.
Scopus88 WoS82 Europe PMC591994 Richards, R. I., Holman, K., Friend, K., Staples, A., Sutherland, G. R., Oudet, C., . . . Brown, W. T. (1994). FRAXAC2 instability [1]. Nature Genetics, 7(2), 122-123.
Scopus5 WoS5 Europe PMC51994 Shen, Y., Kozman, H. M., Thompson, A., Phillips, H. A., Holman, K., Nancarrow, J., . . . Richards, R. I. (1994). A pcr-based genetic linkage map of human chromosome 16. Genomics, 22(1), 68-76.
Scopus30 WoS38 Europe PMC291994 Richards, R. I., & Sutherland, G. R. (1994). Simple repeat DNA is not replicated simply. Nature Genetics, 6(2), 114-116.
Scopus284 WoS286 Europe PMC1731994 Sutherland, G., & Richards, R. (1994). Dynamic mutations: A newly discovered class of genetic mutations provides fresh insight into the curious inheritance patterns of some human diseases. AM.SCI., 82(2), 157-163.
Scopus161994 SUTHERLAND, G. R., & RICHARDS, R. I. (1994). DYNAMIC MUTATIONS. AMERICAN SCIENTIST, 82(2), 157-163.
WoS151994 Richards, R., Kondo, I., Holman, K., Yamauchi, M., Seki, N., Kishi, K., . . . Hori, T. (1994). Haplotype analysis at the FRAXA locus in the Japanese population. American Journal of Medical Genetics, 51(4), 412-416.
Scopus32 WoS36 Europe PMC271994 Nancarrow, J., Kremer, E., Holman, K., Eyre, H., Doggett, N., Le Paslier, D., . . . Richards, R. (1994). Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science, 264(5167), 1938-1941.
Scopus130 WoS137 Europe PMC861994 Donnelly, A., Kozman, H., Gedeon, A. K., Webb, S., Lynch, M., Sutherland, G. R., . . . Mulley, J. C. (1994). A linkage map of microsatellite markers on the human X chromosome. Genomics, 20(3), 363-370.
Scopus29 WoS40 Europe PMC261994 Whitmore, S. A., Apostolou, S., Lane, S., Nancarrow, J. K., Phillips, H. A., Richards, R. I., . . . Callen, D. F. (1994). Isolation and characterization of transcribed sequences from a chromosome 16 hn-cdna library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16. Genomics, 20(2), 169-175.
Scopus29 WoS27 Europe PMC151994 Shen, Y., Holman, K., Doggett, N., Callen, D., Sutherland, G., & Richards, R. (1994). Dinucleotide repeat polumorphisms at the D16S525, D16S359. D16S531 and D16S522 loci. Human Molecular Genetics, 3(1), 210.
Scopus6 WoS6 Europe PMC41994 Sutherland, G., & Richards, R. (1994). Fragile X syndrome: the most common cause of familial mental retardation.. Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui, 35(2), 94-101.
Scopus11993 Migeon, B., Clarke, J., Wilson, P., Morris, C., Hopwood, J., Richards, R., . . . Ray, P. (1993). The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: Heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation [1]. American Journal of Human Genetics, 52(2), 431-434.
Scopus8 Europe PMC81993 Aksentijevich, I., Pras, E., Gruberg, L., Shen, Y., Holman, K., Helling, S., . . . Kastner, D. (1993). Familial Mediterranean fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extended haplotype analysis. American Journal of Human Genetics, 53(3), 644-651.
Scopus30 WoS30 Europe PMC231993 Sutherland, G. R., Mulley, J. C., & Richards, R. I. (1993). Fragile x syndrome. The most common cause of familial intellectual handicap. Medical Journal of Australia, 158(7), 482-485.
Scopus6 WoS6 Europe PMC21993 Misawa, M., & Arai, H. (1993). Airway inflammation induced by xanthine/xanthine oxidase in guinea pigs. Agents and Actions, 38(S1), 19-26.
1993 CLARKE, J. T. R., WILSON, P. J., MORRIS, C. P., HOPWOOD, J. J., RICHARDS, R. I., SUTHERLAND, G. R., & RAY, P. N. (1993). THE POSTULATED X-INACTIVATION CENTER AT XQ27 IS MOST REASONABLY EXPLAINED BY ASCERTAINMENT BIAS - HETEROZYGOUS EXPRESSION OF RECESSIVE MUTATIONS IS A POWERFUL MEANS OF DETECTING UNBALANCED X-INACTIVATION - REPLY. AMERICAN JOURNAL OF HUMAN GENETICS, 52(2), 433-434.
WoS21993 Richards, R., Holman, K., Yu, S., & Sutherland, G. (1993). Fragile x syndrome unstable element, p(ccg)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins. Human Molecular Genetics, 2(9), 1429-1435.
Scopus93 WoS111 Europe PMC681993 Sutherland, G., & Richards, R. (1993). Dynamic mutations on the move. Journal of Medical Genetics, 30(12), 978-981.
Scopus23 WoS21 Europe PMC101993 Shen, Y., Holman, K., Doggett, N., Callen, D., Sutherland, G., & Richards, R. (1993). Four dinucleotide repeat polymorphisms on human chromosome 16. Human Molecular Genetics, 2(10), 1745.
Scopus3 WoS6 Europe PMC11993 Shen, Y., Holman, K., Doggett, N., Callen, D., Sutherland, G., & Richards, R. (1993). Three dinucleotide repeat polymorphisms on human chromosome 16p 13.11-p13.3. Human Molecular Genetics, 2(9), 1506.
Scopus2 WoS31993 Shen, Y., Holman, K., Doggett, N., Callen, D., Sutherland, G., & Richards, R. (1993). Six dinucleotide repeat polymorphisms on human chromosome 16q12.1 - q24.1. Human Molecular Genetics, 2(9), 1505.
Scopus2 WoS3 Europe PMC11993 Shen, Y., Holman, K., Doggett, N., Callen, D., Sutherland, G., & Richards, R. (1993). Five dinucleotide repeat polymorphisms on human chromosome 16q24.2 - q24.3. Human Molecular Genetics, 2(9), 1504.
Scopus2 WoS31993 Callen, D., Thompson, A., Shen, Y., Phillips, H., Richards, R., Mulley, J., & Sutherland, G. (1993). Incidence and origin of 'null' alleles in the (AC)n microsatellite markers. American Journal of Human Genetics, 52(5), 922-927.
Scopus557 WoS550 Europe PMC2521993 Mitchison, H., Thompson, A., Mulley, J., Kozman, H., Richards, R., Callen, D., . . . Gardiner, R. (1993). Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci. Genomics, 16(2), 455-460.
Scopus35 WoS47 Europe PMC321993 Aksentijevich, I., Pras, E., Gruberg, L., Shen, Y., Holman, K., Helling, S., . . . Kastner, D. (1993). Refined mapping of the gene causing Familial Mediterranean fever, by linkage and homozygosity studies. American Journal of Human Genetics, 53(2), 451-461.
Scopus31 WoS32 Europe PMC191992 Gedeon, A., Holman, K., Richards, R., & Mulley, J. (1992). Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci. American Journal of Medical Genetics, 43(1-2), 255-260.
Scopus14 WoS22 Europe PMC191992 Richards, R. I., & Sutherland, G. R. (1992). Fragile X syndrome: The molecular picture comes into focus. Trends in Genetics, 8(7), 249-255.
Scopus34 WoS391992 Mulley, J., Yu, S., Gedeon, A., Donnelly, A., Turner, G., Loesch, D., . . . Sutherland, G. (1992). Experience with direct molecular diagnosis of fragile X. Journal of Medical Genetics, 29(6), 368-374.
Scopus35 WoS44 Europe PMC321992 Richards, R., Friend, K., & Haan, E. (1992). Informative microsatellite markers allow carrier detection in a Duchenne muscular dystrophy deletion pedigree in the absence of DNA from an affected boy [6]. American Journal of Human Genetics, 50(2), 448-449.
Scopus4 WoS6 Europe PMC41992 Shen, Y., Thompson, A. T., Holman, K., Callen, D. F., Sutherland, G. R., & Richards, R. I. (1992). Four dinucleotide repeat polymorphisms on human chromosome 16 at D16S289, D16S318, D16S319 and D1 6S320. Human Molecular Genetics, 1(9), 773.
Scopus8 Europe PMC81992 Callen, D., Doggett, N., Stallings, R., Chen, L., Whitmore, S., Lane, S., . . . Sutherland, G. (1992). High-resolution cytogenetic-based physical map of human chromosome 16. Genomics, 13(4), 1178-1185.
Scopus64 WoS82 Europe PMC351992 Thompson, A., Shen, Y., Holman, K., Sutherland, G., Callen, D., & Richards, R. (1992). Isolation and characterisation of (AC)<inf>n</inf> microsatellite genetic markers from human chromosome 16. Genomics, 13(2), 402-408.
Scopus89 WoS106 Europe PMC641992 Maw, M., Grundy, P., Millow, L., Eccles, M., Dunn, R., Smith, P., . . . Reeve, A. (1992). A Third Wilms5 Tumor Locus on Chromosome 16q. Cancer Research, 52(11), 3094-3098.
Scopus189 WoS202 Europe PMC1331992 Haan, E. A., Serjeantson, S. W., Norman, R., Rollond, A. K., Antonis, P., Richards, R. I., & Penfold, J. L. (1992). Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency. Medical Journal of Australia, 156(2), 132-135.
Scopus20 WoS17 Europe PMC81992 Richards, R. I., Holman, K., Friend, K., Kremer, E., Hillen, D., Staples, A., . . . Sutherland, G. R. (1992). Evidence of founder chromosomes in fragile X syndrome. Nature Genetics, 1(4), 257-260.
Scopus144 WoS172 Europe PMC1231992 Yu, S., Mulley, J., Loesch, D., Turner, G., Donnelly, A., Gedeon, A., . . . Richards, R. (1992). Fragile-X syndrome: Unique genetics of the heritable unstable element. American Journal of Human Genetics, 50(5), 968-980.
Scopus162 WoS191 Europe PMC1231992 Sutherland, G., & Richards, R. (1992). Invited editorial: Anticipation legitimized: Unstable DNA to the rescue. American Journal of Human Genetics, 51(1), 7-9.
Scopus21 WoS28 Europe PMC171992 Richards, R., & Sutherland, G. (1992). Dynamic mutations: A new class of mutations causing human disease. Cell, 70(5), 709-712.
Scopus280 WoS297 Europe PMC1971992 Congiu, M., Clouston, W. M., Fernley, R. T., & Richards, R. I. (1992). The function of conserved elements in the promoter of the mouse angiotensinogen gene. Journal of Molecular Endocrinology, 9(1), 19-29.
Scopus4 Europe PMC21992 Richards, R. I., & Sutherland, G. R. (1992). Heritable unstable DNA sequences. Nature Genetics, 1(1), 7-9.
Scopus107 WoS130 Europe PMC671992 Clarke, J., Wilson, P., Morris, C., Hopwood, J., Richards, R., Sutherland, G., & Ray, P. (1992). Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome. American Journal of Human Genetics, 51(2), 316-322.
Scopus27 WoS33 Europe PMC261991 Gedeon, A., Richards, R., & Mulley, J. (1991). Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26. Nucleic Acids Research, 19(18), 5087.
Scopus8 WoS12 Europe PMC91991 Richards, R., Holman, K., Kozman, H., Kremer, E., Lynch, M., Pritchard, M., . . . Sutherland, G. (1991). Fragile X syndrome: Genetic localisation by linkage mapping of two microsatellite repeats FRAXACJ and FRAXAC2 which immediately flank the fragile site. Journal of Medical Genetics, 28(12), 818-823.
Scopus95 WoS129 Europe PMC1001991 Richards, R., Shen, Y., Holman, K., Kozman, H., Hyland, V., Mulley, J., & Sutherland, G. (1991). Fragile X syndrome: Diagnosis using highly polymorphic microsatellite markers. American Journal of Human Genetics, 48(6), 1051-1057.
Scopus28 WoS44 Europe PMC351991 Richards, R. I., Holman, K., Shen, Y., Kozman, H., Harley, H., Brook, D., & Shaw, D. (1991). Human glandular kallikrein genes: Genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker. Genomics, 11(1), 77-82.
Scopus22 Europe PMC161991 Richards, R. I., & Friend, K. (1991). Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus. Journal of Medical Genetics, 28(12), 856-859.
Scopus5 Europe PMC51991 Kremer, E., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., . . . Richards, R. (1991). Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science, 252(5013), 1711-1714.
Scopus709 WoS808 Europe PMC5511991 Sutherland, G., Kremer, E., Lynch, M., Pritchard, M., Yu, S., Richards, R., & Haan, E. (1991). Hereditary unstable DNA: a new explanation for some old genetic questions?. The Lancet, 338(8762), 289-292.
Scopus47 WoS68 Europe PMC391991 Mulley, J., Gedeon, A., White, S., Haan, E., & Richards, R. (1991). Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers. Journal of Medical Genetics, 28(7), 448-452.
Scopus10 WoS12 Europe PMC91991 Shen, Y., Holman, K., Thompson, A., Kozman, H., Callen, D., Sutherland, G., & Richards, R. (1991). Dinucleotide repeat polymorphism at the D16S288 locus. Nucleic Acids Research, 19(19), 5445.
Scopus11 WoS16 Europe PMC61991 Chen, L., Harris, P., Apostolou, S., Baker, E., Holman, K., Lane, S., . . . Callen, D. (1991). A refined physical map of the long arm of human chromosome 16. Genomics, 10(2), 308-312.
Scopus15 WoS15 Europe PMC101991 Phillips, H., Hyland, V., Holman, K., Callen, D., Richards, R., & Mulley, J. (1991). Dinucleotide repeat polymorphism at D16S287. Nucleic Acids Research, 19(23), 6664.
Scopus11 WoS14 Europe PMC31991 Chen, L., Shen, Y., Holman, K., Thompson, A., Lane, S., Richards, R., . . . Callen, D. (1991). An STS at the D16S290 locus. Nucleic Acids Research, 19(20), 5793.
Scopus2 WoS3 Europe PMC21991 Richards, R., Holman, K., Lane, S., Sutherland, G., & Callen, D. (1991). Human chromosome 16 physical map: Mapping of somatic cell hybrids using multiplex PCR deletion analysis of sequence tagged sites. Genomics, 10(4), 1047-1052.
Scopus11 WoS11 Europe PMC61991 Sutherland, G., Gedeon, A., Donnelly, A., Mulley, J., Kremer, E., Lynch, M., . . . Kornman, L. (1991). Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. New England Journal of Medicine, 325(24), 1720-1722.
Scopus69 WoS96 Europe PMC651991 Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., . . . Richards, R. (1991). Fragile X genotype characterized by an unstable region of DNA. Science, 252(5009), 1179-1181.
Scopus594 WoS702 Europe PMC4431991 Kremer, E., Yu, S., Pritchard, M., Nagaraja, R., Heitz, D., Lynch, M., . . . Richards, R. (1991). Isolation of a human DNA sequence which spans the fragile X. American Journal of Human Genetics, 49(3), 656-661.
Scopus40 WoS41 Europe PMC231990 Barlow, J. W., Raggatt, L. E., Drinkwater, C. C., & Richards, R. I. (1990). Thyroid hormone receptors from IM-9 cells but not HeLa cells bind to promoters of triiodothyronine-responsive genes. Molecular and Cellular Endocrinology, 69(2-3), 129-134.
Scopus1 Europe PMC11990 Clouston, W. M., Lloyd, C. J., & Richards, R. I. (1990). Inducible anti-sense RNA for angiotensinogen in stably transformed hepatoma cell lines. Journal of Molecular Endocrinology, 4(2), 107-117.
Scopus4 Europe PMC51990 West, A. K., Stallings, R., Hildebrand, C. E., Chiu, R., Karin, M., & Richards, R. I. (1990). Human metallothionein genes: Structure of the functional locus at 16q13. Genomics, 8(3), 513-518.
Scopus162 Europe PMC1151989 Clouston, W. M., Lyons, I. G., & Richards, R. I. (1989). Tissue-specific and hormonal regulation of angiotensinogen minigenes in transgenic mice. EMBO Journal, 8(11), 3337-3343.
Scopus28 Europe PMC171989 Clouston, W. M., & Richards, R. I. (1989). An allelic polymorphism of the angiotensinogen gene in mice. Nucleic Acids Research, 17(2), 822.
Scopus4 Europe PMC51989 Digby, M., Zhang, X. Y., & Richards, R. I. (1989). Human prostate specific antigen (PSA) gene: Structure and linkage to the kallikrein-like gene, hGK-1. Nucleic Acids Research, 17(5), 2137.
Scopus30 Europe PMC171989 Barlow, J. W., Raggatt, L. E., Drinkwater, C. C., Lyons, I. G., & Richards, R. I. (1989). Differential binding of thyroid hormone receptors to mouse glandular kallikrein gene promoters: Evidence for multiple binding regions in the mGK-6 gene. Journal of Molecular Endocrinology, 3(2), 79-84.
Scopus4 Europe PMC31989 Clouston, W. M., Fournier, R. E. K., & Richards, R. I. (1989). The angiotensinogen gene is located on mouse chromosome 8. FEBS Letters, 255(2), 419-422.
Scopus14 Europe PMC121988 Clouston, W. M., Evans, B. A., Haralambidis, J., & Richards, R. I. (1988). Molecular cloning of the mouse angiotensinogen gene. Genomics, 2(3), 240-248.
Scopus46 Europe PMC321988 Drinkwater, C. C., & Richards, R. I. (1988). Sequence of mGK-11, a mouse glandular kallikrein gene. Nucleic Acids Research, 16(22), 10918.
Scopus6 Europe PMC21988 Evans, B., Yun, Z., Close, J., Tregear, G., Kitamura, N., Nakanishi, S., . . . Richards, R. (1988). Structure and Chromosomal Localization of the Human Renal Kallikrein Gene. Biochemistry, 27(9), 3124-3129.
Scopus130 WoS131 Europe PMC701988 Sutherland, G., Baker, E., Hyland, V., Callen, D., Close, J., Tregear, G., . . . Richards, R. (1988). Human prostate-specific antigen (Aps) is a member of the glandular kallikrein gene family at 19q13. Cytogenetic and Genome Research, 48(4), 205-207.
Scopus33 WoS32 Europe PMC141988 Drinkwater, C., Evans, B., & Richards, R. (1988). Sequence and expression of mouse γ-renin. Journal of Biological Chemistry, 263(18), 8565-8568.
Scopus18 Europe PMC91988 Drinkwater, C. C., Evans, B. A., & Richards, R. I. (1988). Kallikreins, kinins and growth factor biosynthesis. Trends in Biochemical Sciences, 13(5), 169-172.
Scopus37 Europe PMC221987 Crawford, R. J., Hammond, V. E., Evans, B. A., Coghlan, J. P., Haralambidis, J., Hudson, B., . . . Tregear, G. W. (1987). α-lnhibin gene expression occurs in the ovine adrenal cortex, and is regulated by adrenocorticotropin. Molecular Endocrinology, 1(10), 699-706.
Scopus69 Europe PMC261987 Van Leeuwen, B. H., Penschow, J. D., Coghlan, J. P., & Richards, R. I. (1987). Cellular basis for the differential response of mouse kallikrein genes to hormonal induction. EMBO Journal, 6(6), 1705-1713.
Scopus38 Europe PMC201987 Evans, B., Drinkwater, C., & Richards, R. (1987). Mouse glandular kallikrein genes. Structure and partial sequence analysis of the kallikrein gene locus.. Journal of Biological Chemistry, 262(17), 8027-8034.
Scopus166 Europe PMC971987 Drinkwater, C. C., & Richards, R. I. (1987). Sequence of the mouse glandular kallikrein gene, mGK-5. Nucleic Acids Research, 15(23), 10052.
Scopus9 Europe PMC61987 Drinkwater, C. C., Evans, B. A., & Richards, R. I. (1987). Mouse Glandular Kallikrein Genes: Identification and Characterization of the Genes Encoding the Epidermal Growth Factor Binding Proteins. Biochemistry, 26(21), 6750-6756.
Scopus60 Europe PMC331987 Clouston, W. M., Evans, B. A., & Richards, R. I. (1987). A strategy for assigning end-fragments of genomic DNA cloned into the cosmid vector pJB8. Nucleic Acids Research, 15(23), 10057.
Scopus1 Europe PMC11987 Hyland, V., Grist, S., West, A., Richards, R., & Sutherland, G. (1987). A 5′ flanking region of the metallothionein, MT2A, gene identifies two moderately frequent RFLPs. Nucleic Acids Research, 15(3), 1350.
Scopus9 WoS10 Europe PMC51987 Simmers, R., Sutherland, G., West, A., & Richards, R. (1987). Fragile sites at 16q22 are not at the breakpoint of the chromosomal rearrangement in AMMoL. Science, 236(4797), 92-94.
Scopus53 WoS58 Europe PMC421986 Van Leeuwen, B., Evans, B., Tregear, G., & Richards, R. (1986). Mouse glandular kallikrein genes. Identification, structure, and expression of the renal kallikrein gene. Journal of Biological Chemistry, 261(12), 5529-5535.
Scopus90 Europe PMC531986 Medcalf, R. L., Richards, R. I., Crawford, R. J., & Hamilton, J. A. (1986). Suppression of urokinase-type plasminogen activator mRNA levels in human fibrosarcoma cells and synovial fibroblasts by anti-inflammatory glucocorticoids.. The EMBO journal, 5(9), 2217-2222.
Scopus61 Europe PMC451986 Heguy, A., West, A., Richards, R. I., & Karin, M. (1986). Structure and tissue-specific expression of the human metallothionein IB gene.. Molecular and cellular biology, 6(6), 2149-2157.
Scopus60 Europe PMC521985 Evans, B. A., & Richards, R. I. (1985). Genes for the alpha and gamma subunits of mouse nerve growth factor are contiguous.. The EMBO journal, 4(1), 133-138.
Scopus63 Europe PMC431984 Richards, R. I., Heguy, A., & Karin, M. (1984). Structural and functional analysis of the human metallothionein-I<inf>A</inf> gene: Differential induction by metal ions and glucocorticoids. Cell, 37(1), 263-272.
Scopus218 Europe PMC1771984 Karin, M., Haslinger, A., Holtgreve, H., Richards, R. I., Krauter, P., Westphal, H. M., & Beato, M. (1984). Characterization of DNA sequences through which cadmium and glucocorticoid hormones induce human metallothionein-II<inf>A</inf> gene. Nature, 308(5959), 513-519.
Scopus561 Europe PMC5151984 Karin, M., Eberhardt, N. L., Mellon, S. H., Malich, N., Richards, R. I., Slater, E. P., . . . Cathala, G. (1984). Expression and Hormonal Regulation of the Rat Growth Hormone Gene in Transfected Mouse L Cells. DNA, 3(2), 147-155.
Scopus13 Europe PMC161983 Mason, A. J., Evans, B. A., Cox, D. R., Shine, J., & Richards, R. I. (1983). Structure of mouse kallikrein gene family suggests a role in specific processing of biologically active peptides. Nature, 303(5915), 300-307.
Scopus233 Europe PMC1451983 Shine, J., Mason, A. J., Evans, B. A., & Richards, R. I. (1983). The kallikrein multigene family: specific processing of biologically active peptides.. Cold Spring Harbor symposia on quantitative biology, 48 Pt 1(0), 419-426.
Scopus18 Europe PMC71983 Karin, M., & Richards, R. I. (1983). The human metallothionein gene family: Structure and expression. Environmental Health Perspectives, VOL. 54, 111-115.
Scopus46 Europe PMC251982 Nordeen, S. K., Mason, A. J., Richards, R. I., Baxter, J. D., & Shine, J. (1982). Mouse Kallikrein Arginyl-esteropeptidase Genes: Analysis of Cloned cDNAs Suggests Rapid Functional Divergence from a Common Ancestral Sequence. DNA, 1(3), 309-311.
Scopus5 Europe PMC51982 Richards, R., Catanzaro, D., Mason, A., Morris, B., Baxter, J., & Shine, J. (1982). Mouse glandular kallikrein genes. Nucleotide sequence of cloned cDNA coding for a member of the kallikrein arginyl esteropeptidase group of serine proteases. Journal of Biological Chemistry, 257(6), 2758-2761.
Scopus47 Europe PMC371982 Karin, M., & Richards, R. I. (1982). Human metallothionein genes - Primary structure of the metallothionein-II gene and a related processed gene. Nature, 299(5886), 797-802.
Scopus291 Europe PMC2751982 Karin, M., & Richards, R. I. (1982). Human metallothionein genes: Molecular cloning and sequence analysis of the mRNA. Nucleic Acids Research, 10(10), 3165-3173.
Scopus76 Europe PMC631981 Morris, B. J., Catanzaro, D. F., Richards, R. I., Mason, A., & Shine, J. (1981). Kallikrein and renin: Molecular biology and biosynthesis. Clinical Science, 61(Suppl.7), 351s-353s.
Scopus12 Europe PMC81981 Barta, A., Richards, R. I., Baxter, J. D., & Shine, J. (1981). Primary structure and evolution of rat growth hormone gene. Proceedings of the National Academy of Sciences of the United States of America, 78(8 I), 4867-4871.
Scopus195 Europe PMC1161980 Richards, R., & Wells, J. (1980). Chicken globin genes. Nucleotide sequence of cDNA clones coding for the α-globin expressed during hemolytic anemia. Journal of Biological Chemistry, 255(19), 9306-9311.
Scopus21 WoS29 Europe PMC241979 Richards, R., Shine, J., Ullrich, A., Wells, J., & Goodman, H. (1979). Molecular cloning and sequence analysis of adult chicken β globin cDNA. Nucleic Acids Research, 7(5), 1137-1146.
Scopus64 WoS92 Europe PMC61 -
Book Chapters
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Conference Papers
Year Citation 2006 Henshall, T. L., Lumsden, A. L., Lardelli, M. T., & Richards, R. I. (2006). A critical role for huntingtin in neural development. In INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE Vol. 24 (pp. 511). Banff, CANADA: PERGAMON-ELSEVIER SCIENCE LTD.
2001 Struk, B., Lumsden, A., Cai, L., Guenther, U. P., Neldner, S. A., Zach, S., . . . Lindpaintner, K. (2001). A novel Q378X mutation exists in ABCC6 and its pseudogene - Implications for mutation analysis in pseudoxanthoma elasticum (PXE).. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 69 (pp. 646). UNIV CHICAGO PRESS. 1996 Sood, R., Aksentijevich, I., Altherr, M., Apostolou, S., Balow, J. E., Blake, T., . . . Kastner, D. L. (1996). High-resolution physical map of the region spanning the MEF locus at 16p13. In CYTOGENETICS AND CELL GENETICS Vol. 72 (pp. 21). KARGER.
WoS51996 Doggett, N., Callen, D., Goodwin, L., Tesmer, J., Meincke, L., Bruce, D., . . . Moyzis, R. (1996). A highly integrated physical map of human chromosome 16. In CYTOGENETICS AND CELL GENETICS Vol. 72 (pp. 8). KARGER. 1995 AKSENTIJEVICH, I., ALTHERR, M., APOSTOLOU, S., BALOW, J. E., BLAKE, T., CALLEN, D. F., . . . KASTNER, D. L. (1995). PHYSICAL AND TRANSCRIPTIONAL MAP OF THE FMF CANDIDATE REGION. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 57 (pp. 1479). UNIV CHICAGO PRESS. 1995 DOGGETT, N. A., CALLEN, D. F., GOODWIN, L. A., TESMER, J. G., MEINCKE, L. J., BRUCE, D. C., . . . MOYZIS, R. K. (1995). A HIGHLY INTEGRATED MAP OF HUMAN-CHROMOSOME-16. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 57 (pp. 72). UNIV CHICAGO PRESS. 1995 AKSENTIJEVICH, I., CHEN, X., BALOW, J. E., LEVY, E., PRAS, E., GARDNER, D., . . . KASTNER, D. L. (1995). REFINED LOCALIZATION OF THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER. In CYTOGENETICS AND CELL GENETICS Vol. 68 (pp. 178). KARGER. 1995 DOGGETT, N. A., CALLEN, D. F., DUESING, L. A., TESMER, J. G., MEINCKE, L. J., BRUCE, D. C., . . . MOYZIS, R. K. (1995). AN INTEGRATED PHYSICAL GENETIC CYTOGENETIC MAP OF HUMAN-CHROMOSOME-16. In CYTOGENETICS AND CELL GENETICS Vol. 68 (pp. 180-181). KARGER. 1994 Sutherland, G. R., Brown, W. T., Hagerman, R., Jenkins, E., Lubs, H., Mandel -, J. L., . . . Turner, G. (1994). Sixth international workshop on the fragile X and X-linked mental retardation. In American Journal of Medical Genetics Vol. 51 (pp. 281-293). United States: Wiley.
Scopus4 Europe PMC11992 CALLEN, D., THOMPSON, A., KOZMAN, H., PHILLIPS, H., RICHARDS, R., & SUTHERLAND, G. (1992). A HIGH-RESOLUTION GENETIC-MAP FOR THE LOCALIZATION OF JUVENILE BATTEN DISEASE (CLN3). In CYTOGENETICS AND CELL GENETICS Vol. 60 (pp. 168). KARGER. 1992 NANCARROW, J., KREMER, E., HOLMAN, K., EYRE, H. J., RICHARDS, R. I., CALLEN, D. F., & SUTHERLAND, G. R. (1992). MAPPING AND CLONING FRA16A. In CYTOGENETICS AND CELL GENETICS Vol. 60 (pp. 173-174). KARGER. 1992 SHEN, Y., THOMPSON, A., PHILLIPS, H., HOLMAN, K., KOZMAN, H., CALLEN, D., . . . RICHARDS, R. (1992). HUMAN CHROMOSOME-16 - TOWARDS A PCR BASED GENETIC-LINKAGE MAP. In CYTOGENETICS AND CELL GENETICS Vol. 60 (pp. 175-176). KARGER. 1992 CALLEN, D., LANE, S., EYRE, H., BAKER, E., CHEN, L., RICHARDS, R., & SUTHERLAND, G. (1992). A SOMATIC-CELL HYBRID PANEL FOR MAPPING HUMAN CHROMOSOME-16. In CYTOGENETICS AND CELL GENETICS Vol. 60 (pp. 169). KARGER. 1992 Berg, T., Bradshaw, R., Carretero, O., Chao, J., Chao, L., Clements, J., . . . Scicli, A. (1992). A common nomenclature for members of the tissue (glandular) kallikrein gene families. In Agents and Actions Vol. 38 (pp. 19-25). Switzerland.
Scopus91 Europe PMC271991 KOZMAN, H., CALLEN, D., PHILLIPS, H., WHITMORE, S., SHEN, Y., THOMPSON, A., . . . MULLEY, J. (1991). PRELIMINARY CORRELATION OF THE PHYSICAL AND LINKAGE MAPS OF HUMAN CHROMOSOME-16. In CYTOGENETICS AND CELL GENETICS Vol. 58 (pp. 2000). KARGER. 1991 CALLEN, D., LANE, S., EYRE, H., BAKER, E., CHEN, L., RICHARDS, R., & SUTHERLAND, G. (1991). A SOMATIC-CELL HYBRID PANEL FOR MAPPING HUMAN CHROMOSOME-16. In CYTOGENETICS AND CELL GENETICS Vol. 58 (pp. 1998). KARGER.
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Current Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 2020 Principal Supervisor Characterisation of the biochemical and functional phenotype of the brain and primary neuronal cultures to further understand the neuropathology in a childhood inherited neurodegenerative disorder. Doctor of Philosophy Doctorate Full Time Miss Kleopatra Pericleous 2019 Co-Supervisor Investigation of the Endo-lysosomal Network in a Drosophila model of Alzheimer's disease Doctor of Philosophy Doctorate Full Time Miss Sher Li Tan 2017 Co-Supervisor Purine metabolic enzymes as therapeutic targets in MPS111A Doctor of Philosophy Doctorate Full Time Miss Laura Jade Hewson -
Past Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 2015 - 2019 Principal Supervisor ‘Non-self’ mutation in a Drosophila model of expanded CAG repeat neurodegenerative disease Doctor of Philosophy Doctorate Full Time Andrew William Scott 2013 - 2017 Principal Supervisor Investigating Biological Functions of the Tumor Suppressor WWOX in Drosophila Melanogaster Doctor of Philosophy Doctorate Full Time Mr Cheng Shoou Lee 2011 - 2015 Principal Supervisor Defining the role(s) of non-classical tumour suppressor WWOX in cellular function using Drosophila melanogaster genetic modelling Doctor of Philosophy Doctorate Full Time Dr Amanda Choo 2011 - 2015 Co-Supervisor ANALYSING THE ROLE OF AUTOPHAGY IN ALZHEIMER'S DISEASE PATHOGENESIS USING THE ZEBRAFISH MODEL SYSTEM Doctor of Philosophy Doctorate Full Time Mr Swamynathan Ganesan 2010 - 2014 Principal Supervisor Targeting chromosomal instability: Screening and characterization of CIN killers Doctor of Philosophy Doctorate Full Time Mr Zeeshan Shaukat 2009 - 2013 Principal Supervisor Double-Stranded RNA as a Pathogenic Agent in a Drosophila Model of Dominant Expanded Repeat Disease Doctor of Philosophy Doctorate Full Time Miss Saumya Samaraweera 2007 - 2012 Principal Supervisor Investigation of Pathways Responsible for Repeat RNA-Mediated Cellular Perturbation in Drosophila Models of Dominant Expanded Repeat Disease Doctor of Philosophy Doctorate Full Time Mr Kynan Lawlor 2006 - 2009 Co-Supervisor Fluorescent Imaging of Cell Division Doctor of Philosophy Doctorate Full Time Dr Saman Abraham 2006 - 2010 Principal Supervisor Investigation of RNA-Mediated Pathogenic Pathways in a Drosophila Model of Expanded Repeat Disease Doctor of Philosophy Doctorate Full Time Dr Clare van Eyk 2004 - 2010 Principal Supervisor Huntingtin Function During Zebrafish (Danio rerio) Development Doctor of Philosophy Doctorate Full Time Miss Tanya Henshall 2003 - 2008 Co-Supervisor Zebrafish as a Model of Genetic Disease Doctor of Philosophy Doctorate Full Time Dr Ben Tucker 2003 - 2008 Principal Supervisor The Genetic and Biochemical Analysis of Drosophila Wwox Protein Function Doctor of Philosophy Doctorate Full Time Mr Alexander Colella 2002 - 2007 Principal Supervisor Investigating the Role of Huntingtin in Development and Disease using the Zebrafish Model Organism Doctor of Philosophy Doctorate Full Time Ms Amanda Lumsden 2002 - 2006 Principal Supervisor Investigation of the Pathogenic Agent in a Drosophila Model of Polyglutamine Disease Doctor of Philosophy Doctorate Full Time Miss Catherine McLeod
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