Peer Arts

Research Interests

Genomics Medical Genetics Cancer Biology and Clinical Oncology Immunology and Infection Pregnancy and Birth

Dr Peer Arts

Centre for Cancer Biology

College of Health

Eligible to supervise Masters and PhD (as Co-Supervisor) - email supervisor to discuss availability.

Peer has always been intrigued by implementation of novel technologies and methodologies with a goal to better understand the molecular mechanisms of human diseases. During his PhD at the department of human genetics of Radboud University Medical Center in Nijmegen (The Netherlands) he applied innovative technologies in the fields of genetics and immunology to show how genetic mutations can lead to different (immunological and developmental) disorders. In patient-focused research projects he has shown that disease gene identification is important for the diagnosis and clinical management of human (immunological) diseases. After finishing his PhD in 2017, Peer became a post-doctoral fellow in the research team of Professor Hamish Scott at the Centre for Cancer Biology (CCB) and the University of South Australia (UniSA). Within this research group we apply multi-omics tools (genomics, transcriptomics) to understand the pathogenesis of different diseases (ranging from early perinatal lethality to predisposition to haematological malignancies).

Date Institution name Country Title
2017 Radboud University Nijmegen Netherlands PhD
University of Applied Sciences Utrecht Netherlands Bsc

Year Citation
2025 Schubert, C. M., Jackson, M. R., Barnett, C. P., Scott, H. S., Sullivan, T., Goodall, S., . . . Genomic Autopsy Study Research Network. (2025). Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death. Clinical Genetics, online(1), 13 pages.
DOI
2025 Frank, M. S. B., Bennett, M. K., Ha, T. T., Moore, L., Arts, P., Byrne, A. B., . . . Scott, H. S. (2025). Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. Human Genomics, 19(1, article no. 132), 1-13.
DOI
2024 Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Blood Advances, 8(13), 3437-3443.
DOI Scopus4 WoS1 Europe PMC2
2024 Zerella, J. R., Homan, C. C., Arts, P., Lin, X., Spinelli, S. J., Venugopal, P., . . . Hahn, C. N. (2024). Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood, 144(17), 1765-1780.
DOI Scopus9 WoS8 Europe PMC6
2023 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.
DOI Scopus46 WoS41 Europe PMC36
2023 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.
DOI Scopus1 WoS1 Europe PMC1
2023 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.
DOI Scopus11 WoS11 Europe PMC12
2023 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, article no. 118), 1-18.
DOI Scopus13 WoS14 Europe PMC14
2023 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.
DOI Scopus92 WoS91 Europe PMC95
2023 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(1183318), 1-33.
DOI Scopus3 WoS3 Europe PMC4
2023 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.
DOI Scopus30 WoS28 Europe PMC22
2022 van der Sluijs, P. J., Joosten, M., Alby, C., Attié Bitach, T., Arts, P., Byrne, A., . . . 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.
DOI Scopus17 WoS16 Europe PMC14
2022 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.
DOI Scopus4 WoS4 Europe PMC3
2022 Qian, X., DeGennaro, E. M., Talukdar, M., Akula, S. K., Scott, H. S., Arts, P., & 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.e13-2396.e13.
DOI Scopus14 WoS14 Europe PMC14
2022 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), 1-24.
DOI Scopus4 WoS3 Europe PMC3
2022 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.
DOI
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.
DOI Scopus38 WoS30 Europe PMC31
2022 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.
DOI Scopus73 WoS75 Europe PMC76
2022 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.
DOI
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.
DOI Scopus6 WoS5 Europe PMC7
2021 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.
DOI Scopus14 WoS12 Europe PMC13
2021 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.
DOI Scopus43 WoS39 Europe PMC32
2021 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.
DOI Scopus51 WoS44 Europe PMC43
2021 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).
DOI
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, article no. 94), 1-17.
DOI Scopus8 WoS8 Europe PMC4
2021 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.
DOI Scopus5 WoS4 Europe PMC4
2020 Klück, V., Van Deuren, R. C., Cavalli, G., Shaukat, A., Arts, P., & 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.
DOI Scopus51 WoS47 Europe PMC44
2020 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.
DOI Scopus13 WoS15 Europe PMC10
2020 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.
DOI Scopus13 WoS13 Europe PMC15
2020 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.
DOI Scopus131 WoS119 Europe PMC110
2020 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.
DOI Scopus14 WoS13 Europe PMC11
2020 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.
DOI
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.
DOI Scopus25 WoS21 Europe PMC18
2019 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.
DOI Scopus50 WoS48 Europe PMC44
2019 Arts, P., Simons, A., Alzahrani, M. S., Yilmaz, E., & Hoischen, A. (2019). Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. Genome medicine, 11(1, article no. 38), 1-15.
DOI Scopus61 WoS57 Europe PMC50
2019 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.
DOI Scopus52 WoS49 Europe PMC47
2017 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.
DOI Scopus12 WoS9 Europe PMC9
2017 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(15190), 1-10.
DOI Scopus17 WoS15 Europe PMC16
2017 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, article number 1601478), 1.
DOI Scopus21 WoS21 Europe PMC17
2016 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.
DOI Scopus4 WoS5 Europe PMC4
2016 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.
DOI Scopus16 WoS17 Europe PMC16
2015 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.
DOI Scopus11 WoS10 Europe PMC9
2015 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.
DOI Scopus20 WoS19 Europe PMC22
2014 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(12), E4478-E4484.
DOI Scopus225 WoS207 Europe PMC184
2013 Smeekens, S. P., Ng, A., Kumar, V., Johnson, M. D., Arts, P., & Xavier, R. J. (2013). Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans. Nature communications, 4(1342), 1-10.
DOI Scopus165 WoS159 Europe PMC152
2013 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.
DOI Scopus97 WoS83 Europe PMC73
2011 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.
DOI Scopus590 WoS513 Europe PMC470
2010 Vermeer, S., Hoischen, A., Meijer, R. P. P., Gilissen, C., Arts, P., & 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.
DOI Scopus126 WoS108 Europe PMC112
2010 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), 1109-1113.
DOI Scopus695 WoS644 Europe PMC618
2010 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), 492-499.
DOI Scopus87 WoS78 Europe PMC70
2010 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.
DOI Scopus250 WoS223 Europe PMC217
2010 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.
DOI Scopus198 WoS173 Europe PMC162
2010 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.
DOI Scopus407 WoS368 Europe PMC345

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.
2019 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). FL, Orlando: ELSEVIER.
DOI WoS1
2019 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). FL, Orlando: ELSEVIER.
DOI
2019 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). FL, Orlando: ELSEVIER.
DOI WoS2

Year Citation
2024 Thuong, H., Byrne, A., Arts, P., Kassahn, K., Pais, L., O'Donnell-Luria, A., . . . Barnett, C. P. (2024). The Australian national genomic autopsy study: a summary of results, outcomes and instructive families from 406 trios/quads. Poster session presented at the meeting of Abstracts of the 57th European Society of Human Genetics (ESHG, 2024) Conference as published in European Journal of Human Genetics. Berlin, Germany: Springer Nature.
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 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>. Poster session presented at the meeting of BLOOD. US: AMER SOC HEMATOLOGY.
DOI WoS5
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

  • The missing heritability of rare diseases: discovery to implementation, Medical Research Future Fund, 01/01/2023 - 31/12/2027

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
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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