Peer Arts
Adelaide Medical School
Faculty of Health and Medical Sciences
Eligible to supervise Masters and PhD (as Co-Supervisor) - email supervisor to discuss availability.
I am a postdoctoral translational researcher who aims to utilise novel technologies and methodologies with a goal to better understand the molecular mechanisms of human diseases. During my PhD at the department of human genetics of Radboud University Medical Center in Nijmegen (The Netherlands) I performed genomic and immunological experiments to show how genetic mutations can lead to different (immunological and developmental) disorders. In patient-focused research projects I have shown that disease gene identification is important for the diagnosis and clinical management of human (immunological) diseases.
After finishing my PhD in 2017, Peer relocated to Adelaide to become a post-doctoral fellow in the research team of Professor Hamish Scott at the Centre for Cancer Biology (CCB). Within this research group we apply multi-omics tools (e.g. genomics, transcriptomics) to understand the pathogenesis of different genetic diseases, ranging from early (perinatal) lethal conditions to predisposition to haematological malignancies.
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Education
Date Institution name Country Title 2017 Radboud University Nijmegen Netherlands PhD University of Applied Sciences Utrecht Netherlands Bsc -
Research Interests
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Journals
Year Citation 2024 Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion. Blood Advances, 8(13), 3437-3443.
Scopus1 Europe PMC12024 Zerella, J. R., Homan, C. C., Arts, P., Lin, X., Spinelli, S. J., Venugopal, P., . . . Hahn, C. N. (2024). Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood, 144(17), 1765-1780.
Scopus12023 Byrne, A. B., Arts, P., Ha, T. T., Kassahn, K. S., Pais, L. S., O'Donnell-Luria, A., . . . Webber, D. L. (2023). Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature Medicine, 29(1), 180-189.
Scopus20 WoS5 Europe PMC122023 van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., . . . Santen, G. W. E. (2023). Erratum: Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (Genetics in Medicine (2022) 24(8) (1753–1760), (S1098360022007274), (10.1016/j.gim.2022.04.010)). Genetics in Medicine, 25(2), 1 page.
Europe PMC12023 Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., . . . Grigelioniene, G. (2023). Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders. Journal of Bone and Mineral Research, 38(5), 692-706.
Scopus5 WoS1 Europe PMC42023 Sullivan, P. J., Gayevskiy, V., Davis, R. L., Wong, M., Mayoh, C., Mallawaarachchi, A., . . . Cowley, M. J. (2023). Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications. Genome Biology, 24(1), 1-18.
Scopus8 WoS1 Europe PMC62023 Lunke, S., Bouffler, S. E., Patel, C. V., Sandaradura, S. A., Wilson, M., Pinner, J., . . . Stark, Z. (2023). Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nature Medicine, 29(7), 1681-1691.
Scopus31 WoS1 Europe PMC192023 Zerella, J. R., Homan, C. C., Arts, P., Brown, A. L., Scott, H. S., & Hahn, C. N. (2023). Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy. Frontiers in Oncology, 13, 1-33.
Scopus2 Europe PMC22023 Homan, C. C., Drazer, M. W., Yu, K., Lawrence, D. M., Feng, J., Arriola-Martinez, L. A., . . . Brown, A. L. (2023). Somatic mutational landscape of hereditary hematopoietic malignancies caused by germ line RUNX1, GATA2, and DDX41 variants. Blood Advances, 7(20), 6092-6107.
Scopus15 Europe PMC102022 van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., . . . Santen, G. W. E. (2022). Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine, 24(8), 1753-1760.
Scopus13 WoS4 Europe PMC62022 Yıldız Bölükbaşı, E., Karolak, J. A., Szafranski, P., Gambin, T., Matsika, A., McManus, S., . . . Stankiewicz, P. (2022). Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant. European Journal of Human Genetics, 30(10), 1-5.
Scopus3 WoS2 Europe PMC22022 Qian, X., DeGennaro, E. M., Talukdar, M., Akula, S. K., Lai, A., Shao, D. D., . . . Walsh, C. A. (2022). Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Developmental Cell, 57(20), 2381-2396.e13.
Scopus10 WoS4 Europe PMC62022 Bonaguro, L., Schulte-Schrepping, J., Carraro, C., Sun, L. L., Reiz, B., Gemünd, I., . . . Aschenbrenner, A. C. (2022). Human variation in population-wide gene expression data predicts gene perturbation phenotype. iScience, 25(11), 24 pages.
Scopus2 WoS1 Europe PMC22022 Scott, H., Byrne, A., Arriola, L., Eshraghi, L., Ha, T., Feng, J., . . . Schreiber, A. (2022). Simultaneous Genomic and Metagenomic Analysis for Miscarriage and Stillbirth Further Increases the Diagnostic Utility of Genome Sequencing.
2022 Byrne, A. B., Brouillard, P., Sutton, D. L., Kazenwadel, J., Montazaribarforoushi, S., Secker, G. A., . . . Harvey, N. L. (2022). Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science Translational Medicine, 14(634), eabm4869-1-eabm4869-15.
Scopus23 WoS7 Europe PMC152022 Bournazos, A. M., Riley, L. G., Bommireddipalli, S., Ades, L., Akesson, L. S., Al-Shinnag, M., . . . Williams, M. G. (2022). Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. Genetics in Medicine, 24(1), 130-145.
Scopus51 WoS28 Europe PMC442022 Scott, H., Byrne, A., Arts, P., Ha, T., Kassahn, K., Pais, L., . . . Barnett, C. (2022). A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence.
2021 De Angelis, C., Byrne, A. B., Morrow, R., Feng, J., Ha, T., Wang, P., . . . Barnett, C. (2021). Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia. BMC Medical Genomics, 14(1), 64-1-64-7.
Scopus5 WoS3 Europe PMC52021 Ravindran, E., Jühlen, R., Vieira-Vieira, C. H., Ha, T., Salzberg, Y., Fichtman, B., . . . Kaindl, A. M. (2021). Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Human Molecular Genetics, 30(22), 2068-2081.
Scopus9 WoS5 Europe PMC72021 Homan, C. C., King-Smith, S. L., Lawrence, D. M., Arts, P., Feng, J., Andrews, J., . . . Brown, A. L. (2021). The RUNX1 Database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.. Haematologica, 106(11), 3004-3007.
Scopus31 WoS20 Europe PMC152021 Homan, C. C., Venugopal, P., Arts, P., Shahrin, N. H., Feurstein, S., Rawlings, L., . . . Hahn, C. N. (2021). GATA2 deficiency syndrome: a decade of discovery. Human Mutation, 42(11), 1399-1421.
Scopus34 WoS13 Europe PMC232021 Homan, C. C., Venugopal, P., Arts, P., Shahrin, N. H., Feurstein, S., Rawlings, L., . . . Hahn, C. N. (2021). Cover, Volume 42, Issue 11. Human Mutation, 42(11).
2021 van Deuren, R. C., Arts, P., Cavalli, G., Jaeger, M., Steehouwer, M., van de Vorst, M., . . . Hoischen, A. (2021). Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses. Genome Medicine, 13(1), 17 pages.
Scopus6 WoS6 Europe PMC32021 Rösler, B., Heinhuis, B., Wang, X., Silvestre, R., Joosten, L. A. B., Netea, M. G., . . . van de Veerdonk, F. L. (2021). Mimicking Behçet’s disease: GM-CSF gain of function mutation in a family suffering from a Behçet’s disease-like disorder marked by extreme pathergy. Clinical and Experimental Immunology, 204(2), 189-198.
Scopus3 WoS2 Europe PMC22020 Klück, V., van Deuren, R. C., Cavalli, G., Shaukat, A., Arts, P., Cleophas, M. C., . . . Joosten, L. A. B. (2020). Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout. Annals of the Rheumatic Diseases, 79(4), 536-544.
Scopus45 WoS35 Europe PMC252020 Byrne, A. B., Mizumoto, S., Arts, P., Yap, P., Feng, J., Schreiber, A. W., . . . Scott, H. S. (2020). Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. Journal of Medical Genetics, 57(7), 454-460.
Scopus10 WoS10 Europe PMC82020 Arts, P., Garland, J., Byrne, A. B., Hardy, T. S. E., Babic, M., Feng, J., . . . Scott, H. S. (2020). Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. American Journal of Medical Genetics Part A, 182(5), 1273-1277.
Scopus10 WoS9 Europe PMC72020 Brown, A. L., Arts, P., Carmichael, C. L., Babic, M., Dobbins, J., Chong, C. -E., . . . Scott, H. S. (2020). RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Advances, 4(6), 1131-1144.
Scopus102 WoS65 Europe PMC632020 Fox, L. C., Tan, M., Brown, A. L., Arts, P., Thompson, E., Ryland, G. L., . . . Blombery, P. (2020). A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability. British Journal of Haematology, 190(5), e297-e301.
Scopus13 WoS12 Europe PMC92020 van Deuren, R. C., Arts, P., Cavalli, G., Jaeger, M., Steehouwer, M., van de Vorst, M., . . . Hoischen, A. (2020). Impact of rare and common genetic variation in the Interleukin-1 pathway on human cytokine responses.
2019 Byrne, A. B., Arts, P., Polyak, S. W., Feng, J., Schreiber, A. W., Kassahn, K. S., . . . Scott, H. S. (2019). Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. npj Genomic Medicine, 4(1), 1-8.
Scopus20 WoS11 Europe PMC122019 Singhal, D., Wee, L. Y. A., Kutyna, M. M., Chhetri, R., Geoghegan, J., Schreiber, A. W., . . . Hiwase, D. K. (2019). The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution. Leukemia, 33(12), 2842-2853.
Scopus44 WoS38 Europe PMC292019 Arts, P., Simons, A., Alzahrani, M. S., Yilmaz, E., Alidrissi, E., Van Aerde, K. J., . . . Hoischen, A. (2019). Exome sequencing in routine diagnostics: A generic test for 254 patients with primary immunodeficiencies. Genome Medicine, 11(1), 15 pages.
Scopus53 WoS39 Europe PMC312019 Jaeger, M., Pinelli, M., Borghi, M., Constantini, C., Dindo, M., Van Emst, L., . . . Netea, M. G. (2019). A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis. Science Translational Medicine, 11(496), 12 pages.
Scopus43 WoS26 Europe PMC292017 Plantinga, T. S., Arts, P., Knarren, G. H., Mulder, A. H., Wakelkamp, I. M., Hermus, A. R., . . . Netea-Maier, R. T. (2017). Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease. Clinical Pharmacology and Therapeutics, 102(6), 1017-1024.
Scopus11 WoS8 Europe PMC82017 Arts, P., Van Der Raadt, J., Van Gestel, S. H. C., Steehouwer, M., Shendure, J., Hoischen, A., & Albers, C. A. (2017). Quantification of differential gene expression by multiplexed targeted resequencing of cDNA. Nature Communications, 8(1), 10 pages.
Scopus15 WoS13 Europe PMC122017 Becker, K. L., Arts, P., Jaeger, M., Plantinga, T. S., Gilissen, C., Van Laarhoven, A., . . . Van De Veerdonk, F. L. (2017). MST1R mutation as a genetic cause of Lady Windermere syndrome. European Respiratory Journal, 49(1), 4 pages.
Scopus19 WoS16 Europe PMC102016 Arts, P., van de Veerdonk, F. L., van der Lee, R., Langereis, M. A., Gilissen, C., van Zelst-Stams, W. A. G., . . . Netea, M. G. (2016). Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy. Journal of Allergy and Clinical Immunology, 138(3), 895-898.
Scopus4 WoS3 Europe PMC42016 van der Kolk, N. M., Arts, P., van Uden, I. W. M., Hoischen, A., van de Veerdonk, F. L., Netea, M. G., & de Jong, B. A. (2016). Progressive multifocal leukoencephalopathy in an immunocompetent patient. Annals of Clinical and Translational Neurology, 3(3), 226-232.
Scopus16 WoS15 Europe PMC112015 Arts, P., Plantinga, T. S., van den Berg, J. M., Gilissen, C., Veltman, J. A., van Trotsenburg, A. S., . . . Netea, M. G. (2015). A missense mutation underlies defective SOCS4 function in a family with autoimmunity. Journal of Internal Medicine, 278(2), 203-210.
Scopus8 WoS6 Europe PMC62015 Kumar, R., Corbett, M., Smith, N., Jolly, L., Tan, C., Keating, D., . . . Gecz, J. (2015). Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Human Molecular Genetics, 24(7), 2000-2010.
Scopus19 WoS14 Europe PMC132014 Oosting, M., Cheng, S. C., Bolscher, J. M., Vestering-Stenger, R., Plantinga, T. S., Verschueren, I. C., . . . Joosten, L. A. B. (2014). Human TLR10 is an anti-inflammatory pattern-recognition receptor. Proceedings of the National Academy of Sciences of the United States of America, 111(42), E4478-E4484.
Scopus206 WoS173 Europe PMC1402013 Smeekens, S. P., Ng, A., Kumar, V., Johnson, M. D., Plantinga, T. S., Van Diemen, C., . . . Xavier, R. J. (2013). Functional genomics identifies type i interferon pathway as central for host defense against Candida albicans. Nature Communications, 4(1), 10 pages.
Scopus153 WoS133 Europe PMC1302013 Makrythanasis, P., van Bon, B., Steehouwer, M., Rodríguez-Santiago, B., Simpson, M., Dias, P., . . . Hoischen, A. (2013). MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clinical Genetics, 84(6), 539-545.
Scopus89 WoS68 Europe PMC582011 Van De Veerdonk, F. L., Plantinga, T. S., Hoischen, A., Smeekens, S. P., Joosten, L. A. B., Gilissen, C., . . . Netea, M. G. (2011). STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. New England Journal of Medicine, 365(1), 54-61.
Scopus571 WoS464 Europe PMC3792010 Vermeer, S., Hoischen, A., Meijer, R. P. P., Gilissen, C., Neveling, K., Wieskamp, N., . . . Knoers, N. (2010). Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. American Journal of Human Genetics, 87(6), 813-819.
Scopus118 WoS95 Europe PMC892010 Vissers, L. E. L. M., De Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., De Vries, P., . . . Veltman, J. A. (2010). A de novo paradigm for mental retardation. Nature Genetics, 42(12), 1109-1112.
Scopus670 WoS604 Europe PMC5182010 Hoischen, A., Gilissen, C., Arts, P., Wieskamp, N., Van Vliet, W. D., Vermeer, S., . . . Veltman, J. A. (2010). Massively parallel sequencing of ataxia genes after array-based enrichment. Human Mutation, 31(4), 494-499.
Scopus86 WoS77 Europe PMC632010 Gilissen, C., Arts, H. H., Hoischen, A., Spruijt, L., Mans, D. A., Arts, P., . . . Brunner, H. G. (2010). Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. American Journal of Human Genetics, 87(3), 418-423.
Scopus239 WoS214 Europe PMC1902010 Nikopoulos, K., Gilissen, C., Hoischen, A., Erik van Nouhuys, C., Boonstra, F. N., Blokland, E. A. W., . . . Collin, R. W. J. (2010). Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy. American Journal of Human Genetics, 86(2), 240-247.
Scopus195 WoS166 Europe PMC1432010 Arts, P., van den Berg, M., Van Haegenborgh, V., Willems, A., & Van Soom, A. (2010). Interruption of pregnancy in bitches with Alizin<SUP>®</SUP>.. VLAAMS DIERGENEESKUNDIG TIJDSCHRIFT, 79(3), 237-240. 2010 Hoischen, A., Van Bon, B., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., . . . Veltman, J. (2010). De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics, 42(6), 483-485.
Scopus385 WoS343 Europe PMC289 -
Conference Papers
Year Citation 2023 Bolukbasi, E. Y., Karolak, J., Gambin, T., Szafranski, P., Matsika, A., McManus, S., . . . Stankiewicz, P. (2023). Complex compound inheritance in a four-generation ACDMPV family. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 31 (pp. 116-117). AUSTRIA, Vienna: SPRINGERNATURE. 2022 Brown, A. L., Homan, C., Drazer, M. W., Yu, K., Lawrence, D., Feng, J., . . . Godley, L. A. (2022). Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in <i>RUNX1</i>, <i>GATA2</i> and <i>DDX41</i>. In BLOOD Vol. 140 (pp. 4030-4033). LA, New Orleans: AMER SOC HEMATOLOGY.
DOI2019 Mirea, A., van Deuren, R. C., Toonen, E. J. M., Arts, P., Steehouwer, M., van den Munkhof, I., . . . Joosten, L. A. B. (2019). Detection of IL-1 family rare genetic variants in metabolic disorders using single-molecule Molecular Inversion Probes (smMIPs). In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 27 (pp. 1647-1648). Gothenburg, SWEDEN: NATURE PUBLISHING GROUP. 2019 Homan, C., Armstrong, M., Dobbins, J., Lawrence, D., Wang, P., Arts, P., . . . Brown, A. (2019). DEVELOPMENT OF A DATA PORTAL FOR AGGREGATION AND ANALYSIS OF GENOMICS DATA IN FAMILIAL PLATELET DISORDER WITH PREDISPOSITION TO MYELOID MALIGNANCY - THE RUNX1.DB. In EXPERIMENTAL HEMATOLOGY Vol. 76 (pp. S69). ELSEVIER SCIENCE INC. 2019 Singhal, D., Hahn, C. N., Moma, L. D., Wee, L. Y. A., Chhetri, R., Babic, M., . . . Hiwase, D. K. (2019). Deleterious Germline Variants, Especially in the DNA Repair Pathway, Are Common in Patients with Non-Related Multiple Cancers, One of Them Being Hematological Malignancy. In BLOOD Vol. 134 (pp. 3 pages). Orlando, FL: AMER SOC HEMATOLOGY.
DOI WoS12019 Brown, A. L., Babic, M., Schreiber, A., Feng, J., Dobbins, J., Arts, P., . . . Scott, H. S. (2019). Familial Clustering of Hematological Malignancies: Harbingers of Wider Germline Cancer Susceptibility. In BLOOD Vol. 134 (pp. 3 pages). Orlando, FL: AMER SOC HEMATOLOGY.
DOI WoS12019 Hahn, C. N., Babic, M., Brautigan, P. J., Venugopal, P., Phillips, K., Dobbins, J., . . . Scott, H. S. (2019). Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data. In BLOOD Vol. 134 (pp. 4 pages). Orlando, FL: AMER SOC HEMATOLOGY.
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Conference Items
Year Citation 2023 Vikkula, M., Babic, M., Brautigan, P., Haan, E., White, M., Piltz, S., . . . Montazaribarforoushi, S. (2023). A new Smad4 mouse model mimicking Myhre Syndrome?. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. AUSTRIA, Vienna: SPRINGERNATURE. 2022 Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., . . . Grigelioniene, G. (2022). Al-Gazali skeletal dysplasia constitutes the lethal end of <i>ADAMTSL2</i>-related disorders. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. SPRINGERNATURE. 2019 Barnett, C. P., Byrne, A. B., Arts, P., Feng, J., Wang, P. S., Schrieber, A., . . . Scott, H. (2019). The Genomic Autopsy Study: using genomics as an adjunct to standard autopsy to unlock the cause of complex fetal and neonatal presentations. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. Milan, ITALY: NATURE PUBLISHING GROUP. 2018 Singhal, D., Wee, A., Kutyna, M. M., Babic, M., Chhetri, R., Parker, W., . . . Hiwase, D. K. (2018). Therapy-Related Myeloid Neoplasms (T-MN) and Primary MDS (PMDS) Patients with Very Low (VL) or Low (L) IPSS-R Score Share Clinical and Biological Characteristics and Have Similar Outcome. Poster session presented at the meeting of BLOOD. CA, San Diego: AMER SOC HEMATOLOGY.
DOI
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Current Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 2023 Co-Supervisor Multiplex assay of variant effect (MAVE) to measure functional effects following saturation mutagenesis of GATA2 and RUNX1. Doctor of Philosophy Doctorate Full Time Mr Wen Teng
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