Dr Peer Arts

Adjunct Senior Research Fellow Centre for Cancer Biology

email Peer.Arts@unisa.edu.au

Research Degree Supervisor

About me

Genetics
Genomics
Transcriptomics

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 ... Read more

Centre for Cancer Biology

Making breakthrough discoveries in the fundamental causes of cancer, and translating these into prevention and treatment.

Tweets by @UniversitySA

Research

Research focus

Clinical Sciences
Biological Sciences
Genetics
Medical and Health Sciences
Cardiovascular Medicine and Haematology

Research

Outputs

Research outputs for the last seven years are shown below. Some long-standing staff members may have older outputs included. To see earlier years visit ORCID, ResearcherID or Scopus

Open access indicates that an output is open access.

Journal Articles

Year	Output
2025	Frank, MSB, Bennett, MK, Ha, TT, Moore, L, Arts, P, Byrne, AB, Babic, M, Arriola-Martinez, L, Toubia, J, Brautigan, PJ, Feng, J, Schwarz, Q, Jackson, MR & Scott, HS 2025, 'Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses', Human Genomics, vol. 19, no. 1, article no. 132, pp. 1-13. Open access
2024	Venugopal, P, Arts, P, Fox, LC, Simons, A, Ross, DM, Frank, MS, Ha, TT, Jackson, MR, Arriola-Martinez, L, Kenyon, R, Brown, AL, Hahn, CN & Scott, HS 2024, 'Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion', Blood Advances, vol. 8, no. 13, pp. 3437-3443. Open access 4 1 10
2024	Zerella, JR, Homan, CC, Arts, P, Lin, X, Spinelli, SJ, Venugopal, P, Babic, M, Brautigan, PJ, Arriola-Martinez, L, Parker, WT, Branford, S, Ross, DM, Brown, AL, Scott, HS & Hahn, CN 37 other authors and 1 consortium 2024, 'Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition', Blood, vol. 144, no. 17, pp. 1765-1780. Open access 8 7 23
2023	Batkovskyte, D, McKenzie, F, Taylan, F, Simsek-Kiper, PO, Ha, T, Arts, P, Babic, M, Jackson, MR, Scott, HS & Grigelioniene, G and 22 other authors 2023, 'Al-gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders', Journal of Bone and Mineral Research, vol. 38, no. 5, pp. 692-706. Open access 10 10
2023	Byrne, AB, Arts, P, Ha, TT, Kassahn, KS, Babic, M, Frank, MS, Feng, J, Wang, P, Lawrence, DM, Eshraghi, L, Arriola, L, Toubia, J, Gardner, AE, Morrow, R, Schreiber, AW, King-Smith, SL, Jackson, MR & Scott, HS 182 other authors and 2 consortia 2023, 'Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death', Nature Medicine, vol. 29, no. 1, pp. 180-189. Open access 43 40 76
2023	Homan, CC, Drazer, MW, Yu, K, Lawrence, DM, Feng, J, Arriola-Martinez, LA, Ha, TT, Venugopal, P, Arts, P, King-Smith, S, Cheah, JJC, Armstrong, M, Wang, P, Babic, M, Scott, HS & Brown, AL and 49 other authors 2023, 'Somatic mutational landscape of hereditary hematopoietic malignancies caused by germ line RUNX1, GATA2, and DDX41 variants', Blood Advances, vol. 7, no. 20, pp. 6092-6107. Open access 29 25 3
2023	Lunke, S, Bouffler, SE, Patel, C V, Sandaradura, SA, Ha, T, Arts, P, Scott, HS & Stark, Z and 36 other authors 2023, 'Integrated multi-omics for rapid rare disease diagnosis on a national scale', Nature Medicine, vol. 29, pp. 1681-1691. Open access 91 89
2023	Sullivan, PJ, Gayevskiy, V, Davis, RL, Wong, M, Mayoh, C, Mallawaarachchi, A, Hort, Y, McCabe, MJ, Beecroft, S, Jackson, MR, Arts, P, Dubowsky, A, Laing, N, Dinger, ME, Scott, HS, Oates, E, Pinese, M & Cowley, MJ 2023, 'Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications', Genome Biology, vol. 24, no. 1, article no. 118. Open access 12
2023	Zerella, JR, Homan, CC, Arts, P, Brown, AL, Scott, HS & Hahn, CN 2023, 'Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy', Frontiers in Oncology, vol. 13, article no. 1183318. Open access 3 3 1
2022	Bolukbasi, EY, Karolak, JA, Szafranski, P, Gambin, T, Matsika, A, McManus, S, Scott, HS, Arts, P, Ha, T, Barnett, CP, Rodgers, J & 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, pp. 1-5. 4 4
2022	Bonaguro, L, Schulte-Schrepping, J, Carraro, C, Sun, LL, Reiz, B, Gemünd, I, Saglam, A, Rahmouni, S, Georges, M, Arts, P, Hoischen, A, Joosten, LA, van de Veerdonk, FL, Netea, MG, Händler, K, Mukherjee, S, Ulas, T, Schultze, JL & Aschenbrenner, AC 2022, 'Human variation in population-wide gene expression data predicts gene perturbation phenotype', iScience, vol. 25, no. 11, pp. 1-24. Open access 3 3
2022	Byrne, AB, Brouillard, P, Sutton, DL, Kazenwadel, J, Montazaribarforoush, S, Secker, GA, Oszmiana, A, Babic, M, Betterman, KL, Brautigan, PJ, Hahn, CN, Arts, P, Scott, HS & Harvey, NL and 18 other authors 2022, 'Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema', Science Translational Medicine, vol. 14, no. 634, article no. eabm4869, pp. 1-14. 38 29 182
2022	Qian, X, DeGennaro, EM, Talukdar, M, Akula, SK, Scott, HS, Arts, P & Walsh, CA and 28 other authors 2022, 'Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis', Developmental Cell, vol. 57, no. 20, pp. 2381-2396.e13. Open access 14 13
2022	van der Sluijs, PJ, Joosten, M, Alby, C, Attié-Bitach, T, Arts, P, Byrne, A, Scott, HS & Santen, GW and 55 other authors 2022, 'Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760. Open access 17 16
2021	DeAngelis, C, Byrne, AB, Morrow, R, Feng, J, Ha, T, Wang, P, Schreiber, AW, Babic, M, Taranath, A, Manton, N, King-Smith, SL, Schwarz, Q, Arts, P, Scott, HS & Barnett, C 2021, 'Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia', BMC Medical Genomics, vol. 14, no. 1, article no. 64, pp. 1-7. Open access 6 5 1
2021	Homan, CC, Venugopal, P, Arts, P, Shahrin, NH, Feurstein, S, Rawlings, L, Lawrence, DM, Andrews, J, King-Smith, SL, Harvey, NL, Brown, AL, Scott, HS & Hahn, CN 2021, 'GATA2 deficiency syndrome: a decade of discovery', Human Mutation, vol. 42, no. 11, pp. 1399-1421. Open access 51 43 15
2021	Ravindran, E, Jühlen, R, Vieira-Vieira, CH, Ha, T, Arts, P, Jackson, MR, Scott, H & Kaindl, AM and 17 other authors 2021, 'Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders', Human Molecular Genetics, vol. 30, no. 22, pp 2068-2081. 14 12
2021	van Deuren, RC, Arts, P, Cavalli, G, Jaeger, M, Steehouwer, M, van de Vorst, M, Gilissen, C, Joosten, LA, Dinarello, CA, Mhlanga, MM, Kumar, V, Netea, MG, van de Veerdonk, FL & Hoischen, A 2021, 'Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses', Genome Medicine: Medicine in the Post-Genomic Era, vol. 13, no. 1, article no. 94, pp. 1-17. Open access 8 8
2020	Arts, P, Garland, J, Byrne, AB, Hardy, TS, Babic, M, Feng, J, Wang, P, Ha, T, King-Smith, SL, Schreiber, AW, Crawford, A, Manton, N, Moore, L, Barnett, CP & Scott, HS 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, vol. 182, no. 5, pp. 1273-1277. Open access 13 13
2020	Brown, AL, Arts, P, Babic, M, Dobbins, J, Feng, J, Ha, T, Homan, CC, King-Smith, SL, Li, X-C, Brautigan, P, Butcher, C, D'Andrea, RJ, Hahn, CN & Scott, HS and 46 other authors 2020, 'RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML', Blood Advances, vol. 4, no. 6, pp. pp. 1131-1144. Open access 129 117 5
2020	Byrne, AB, Mizumoto, S, Arts, P, Yap, P, Feng, J, Schreiber, AW, Babic, M, King-Smith, SL, Barnett, CP, Moore, L, Sugahara, K, Mutlu-Albayrak, H, Nishimura, G, Liebelt, JE, Yamada, S, Savarirayan, R & Scott, HS 2020, 'Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis', Journal of Medical Genetics, article no. 106700, pp. 1-7. Open access 13 15
2020	Fox, LC, Tan, M, Brown, AL, Arts, P, Thompson, E, Ryland, GL, Lickiss, J, Scott, HS, Poplawski, NK, Phillips, K, Came, NA, James, P, Ting, SB, Ritchie, DS, Szer, J, Hahn, CN, Schwarer, A & Blombery, P 2020, 'A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability', British Journal of Haematology, vol. 190, no. 5, pp. 297-301. Open access 14 13
2020	Klück, V, Van Deuren, RC, Cavalli, G, Shaukat, A, Arts, P & Joosten, LA Total of 27 authors. 2020, 'Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout', Annals of the Rheumatic Diseases, vol. 79, no. 4, pp. 536-544. 51 47
2019	Arts, P, Simons, A, Alzahrani, MS, Yilmaz, E & Hoischen, A and 47 other authors 2019, 'Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies', Genome Medicine: Medicine in the Post-Genomic Era, vol. 11, no. 1, article no. 38, pp. 1-15. Open access 61 57
2019	Byrne, AB, Arts, P, Polyak, SW, Feng, J, Schreiber, A, Kassahn, KS, Hahn, CN, Mordaunt, DA, Fletcher, JM, Lipsett, J, Bratkovic, D, Booker, GW, Smith, NJ & Scott, HS 2019, 'Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6', npj Genomic Medicine, vol. 4, no. 1, article number 28, pp. 1-8. Open access 24 21
2017	Arts, P, Van Der Raadt, J, Van Gestel, SH, Steehouwer, M, Shendure, J, Hoischen, A & Albers, CA 2017, 'Quantification of differential gene expression by multiplexed targeted resequencing of cDNA', Nature Communications, vol. 8, article number 15190, pp. 1-10. Open access 17 15
2017	Plantinga, T, Arts, P, Knarren, G, Mulder, A, Wakelkamp, I, Hermus, A, Joosten, L, Netea, M, Bisschop, P, de Herder, W, Beijers, H, de Bruin, I, Gilissen, C, Veltman, J, Hoischen, A, Smit, J & Netea-Maier, R 2017, 'Rare NOX3 variants confer susceptibility to agranulocytosis during thyrostatic treatment of Graves' disease', Clinical Pharmacology and Therapeutics, vol. 102, no. 6, pp. 1017-1024. 12 9
2016	van der Kolk, NM, Arts, P, van Uden, IW, Hoischen, A, van de Veerdonk, FL, Netea, MG & de Jong, BA 2016, 'Progressive multifocal leukoencephalopathy in an immunocompetent patient', Annals of Clinical and Translational Neurology, vol. 3, no. 3, pp. 226-232. Open access 16 17
2015	Arts, P, Plantinga, T, van den Berg, J, Gilissen, C, Veltman, J, van Trotsenburg, A, van de Veerdonk, F, Kuijpers, T, Hoischen, A & Netea, M 2015, 'A missense mutation underlies defective SOCS4 function in a family with autoimmunity', Journal of Internal Medicine, vol. 278, no. 2, pp. 203-210. 11 10
2014	Kumar, R, Corbett, MA, Smith, NJ, Jolly, LA, Arts, P & Gecz, J and 18 other authors 2014, 'Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder', Human Molecular Genetics, vol. 24, no. 7, article number ddu614, pp. 2000-2010. Open access 20 19
2014	Oosting, M, Cheng, SC, Bolscher, JM, Vestering-Stenger, R, Plantinga, TS, Verschueren, IC, Arts, P, Garritsen, A, Van Eenennaam, H, Sturm, P, Kullberg, BJ, Hoischen, A, Adema, GJ, Van Der Meer, JW, Netea, MG & Joosten, LA 2014, 'Human TLR10 is an anti-inflammatory pattern-recognition receptor', Proceedings of the National Academy of Sciences of USA, vol. 111, no. 12, pp. E4478-E4484. Open access 223 205
2013	Makrythanasis, P, van Bon, B, Steehouwer, M, Rodríguez-Santiago, B, Arts, P & Hoischen, A and 52 other authors 2013, 'MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study', Clinical Genetics: An International Journal of Genetics and Molecular Medicine, vol. 84, no. 6, pp. 539-545. 96 82
2013	Smeekens, SP, Ng, A, Kumar, V, Johnson, MD, Arts, P & Xavier, RJ 2013, 'Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans', Nature Communications, vol. 4, article no. 1342, pp. 1-10. Open access 165 159
2011	Van De Veerdonk, FL, Plantinga, TS, Hoischen, A, Smeekens, SP, Joosten, LA, Gilissen, C, Arts, P, Rosentul, DC, Carmichael, AJ, Smits-van Der Graaf, CA, Kullberg, BJ, Van Der Meer, JW, Lilic, D, Veltman, JA & Netea, MG 2011, 'STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis', New England Journal of Medicine, vol. 365, no. 1, pp. 54-61. Open access 589 512
2010	Gilissen, C, Arts, HH, Hoischen, A, Spruijt, L, Mans, DA, Arts, P, Van Lier, B, Steehouwer, M, Van Reeuwijk, J, Kant, SG, Roepman, R, Knoers, NVAM, Veltman, JA & Brunner, HG 2010, 'Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome', American Journal of Human Genetics. Open access 250 223
2010	Hoischen, A, Gilissen, C, Arts, P, Wieskamp, N, Van Vliet, WD, Vermeer, S, Steehouwer, M, De Vries, P, Meijer, R, Seiqueros, J, Knoers, NV, Buckley, MF, Scheffer, H & Veltman, JA 2010, 'Massively parallel sequencing of ataxia genes after array-based enrichment', Human Mutation, vol. 31, no. 4, pp. 492-499. 87 78
2010	Hoischen, A, Van Bon, BW, Gilissen, C, Arts, P & Veltman, JA 2010, 'De novo mutations of SETBP1 cause Schinzel-Giedion syndrome', Nature Genetics, vol. 42, no. 6, pp. 483-485. 407 368
2010	Nikopoulos, K, Gilissen, C, Hoischen, A, Erik van Nouhuys, C, Boonstra, FN, Blokland, EA, Arts, P, Wieskamp, N, Strom, TM, Ayuso, C, Tilanus, MA, Bouwhuis, S, Mukhopadhyay, A, Scheffer, H, Hoefsloot, LH, Veltman, JA, Cremers, FP & Collin, RW 2010, 'Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy', American Journal of Human Genetics, vol. 86, no. 2, pp. 240-247. Open access 198 173
2010	Vermeer, S, Hoischen, A, Meijer, RP, Gilissen, C, Arts, P & Knoers, N and 24 other authors 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, vol. 87, no. 6, pp. 813-819. Open access 126 108
2010	Vissers, LELM, De Ligt, J, Gilissen, C, Janssen, I, Steehouwer, M, De Vries, P, Van Lier, B, Arts, P, Wieskamp, N, Del Rosario, M, Van Bon, BWM, Hoischen, A, De Vries, BBA, Brunner, HG & Veltman, JA 2010, 'A de novo paradigm for mental retardation', Nature Genetics, vol. 42, no. 12, pp. 1109-1113. 694 639

External engagement & recognition

Collaborations

External engagement & recognition

Collaborations

Organisation	Country
Academic Medical Centre	NETHERLANDS
Akdeniz University	TURKEY
Australian Genomics Health Alliance	AUSTRALIA
Bartimeus Institute for the Visually Impaired	NETHERLANDS
Baylor College of Medicine	UNITED STATES
Broad Institute of MIT and Harvard	UNITED STATES
Campbell University	UNITED STATES
Canisius Wilhelmina Hospital	NETHERLANDS
Cengiz Gökcek Obstetrics and Children's Hospital	TURKEY
Charite - Medical University of Berlin	GERMANY
Comma Soft AG	GERMANY
Council of Scientific and Industrial Research	INDIA
de Duve Institute	BELGIUM
Donders Centre for Neuroscience	NETHERLANDS
Eastern Health	AUSTRALIA
Erasmus MC, Rotterdam	NETHERLANDS
Erasmus University Rotterdam	NETHERLANDS
Free University of Amsterdam	NETHERLANDS
Fundacion Jimenez Diaz	SPAIN
Garvan Institute of Medical Research	AUSTRALIA
German Center for Neurodegenerative Diseases	GERMANY
German Research Center for Environmental Health	GERMANY
Hacettepe University	TÜRKIYE
Harvard University	UNITED STATES
Hpital Necker-Enfants Malades	FRANCE
Hudson Institute of Medical Research	AUSTRALIA
James Cook University Hospital	UNITED KINGDOM
Karolinska Institute	SWEDEN
Karolinska University Hospital	SWEDEN
King Fahad Medical City	SAUDI ARABIA
Kolling Institute of Medical Research	AUSTRALIA
Leiden University	NETHERLANDS
Maastricht University Medical Centre	NETHERLANDS
Massachusetts General Hospital	UNITED STATES
Mater Adult Hospital	AUSTRALIA
Max-Delbruck-Centrum fur Molekulare Medizin	GERMANY
Meijo University	JAPAN
Merck Research Laboratories	UNITED STATES
Murdoch Childrens Research Institute	AUSTRALIA
National Human Genome Research Institute	UNITED STATES
National Jewish Health	UNITED STATES
Newcastle University, United Kingdom	UNITED KINGDOM
Nijmegen Centre for Molecular Life Sciences - NCMLS	NETHERLANDS
Peter MacCallum Cancer Centre	AUSTRALIA
Poznan University of Medical Sciences	POLAND
Radboud Institute for Molecular Life Sciences	NETHERLANDS
Radboud University Medical Centre	NETHERLANDS
Radboud University Nijmegen	NETHERLANDS
Radboud University Nijmegen Medical Centre	NETHERLANDS
Royal Adelaide Hospital	AUSTRALIA
Royal Brisbane & Women's Hospital	AUSTRALIA
Royal Brisbane and Women's Hospital	AUSTRALIA
Royal Melbourne Hospital	AUSTRALIA
SA Pathology	AUSTRALIA
Slingeland Hospital	NETHERLANDS
St Antonius Hospital	NETHERLANDS
Sydney Children’s Hospitals Network	AUSTRALIA
Sydney Local Health District	AUSTRALIA
Tokyo Metropolitan Children’s Medical Center	JAPAN
Tokyo Metropolitan Children's Medical Center	JAPAN
Università Vita-Salute San Raffaele	ITALY
Universitat Pompeu Fabra	SPAIN
University Libre Bruxelles	BELGIUM
University Medical Center Groningen	NETHERLANDS
University of Adelaide	AUSTRALIA
University of Auckland	NEW ZEALAND
University of Bonn	GERMANY
University of Chicago	UNITED STATES
University of Geneva	SWITZERLAND
University of Liege	BELGIUM
University of Medicine and Pharmacy Cluj-Napoca	ROMANIA
University of Melbourne	AUSTRALIA
University of New South Wales	AUSTRALIA
University of Otago	NEW ZEALAND
University of Paris	FRANCE
University of Porto	PORTUGAL
University of South Australia	AUSTRALIA
University of Washington	UNITED STATES
University of Western Australia	AUSTRALIA
Utrecht University	NETHERLANDS
Warsaw University of Technology	POLAND
Women's and Children's Hospital	AUSTRALIA

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Dr Peer Arts

About me

About me

Centre for Cancer Biology

About me

Professional Associations

Experience

Qualifications

Research

Research focus

Projects

Outputs

Journal Articles

External engagement & recognition

Collaborations

Collaborations

Gallery