Heleen ArtsPhD, FCCMG

Assistant Professor


Email: heleen.arts@iwk.nshealth.ca
Phone: (902) 470 6873
Mailing Address: 
IWK Health Centre Department of Pathology - Division of Clinical Genomics 5850/5980 University Avenue | PO Box 9700 Halifax, Nova Scotia | B3K 6R8
Research Topics:
  • clinical molecular genetics
  • human genetics
  • development
  • ciliopathies


Dr. Heleen Arts is a laboratory scientist and interprets and reports clinical genome diagnostic results of a wide range of hereditary disorders. She is interested in molecular genetics of rare disorders, particularly ciliopathies, ranging from isolated renal disease to perinatal lethal syndromes that affect development throughout the body.

Selected Publications

  1. Walczak-Sztulpa J*, Posmyk R**, Bukowska-Olech EM**, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset-stage renal disease. (2020) Orphanet Journal of Rare Diseases. Feb 1;15(1):36
  2. Renkema KY, Giles RH, Lilien MR, Beales PL, Roepman R, Arts HH, Knoers NVAM. The KOUNCIL consortium: from genetic defects to therapeutic development for nephronophtisis. (2018) Frontiers in Pediatrics; May 7; 6:131.
  3. Frosk P*, Arts HH*, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network,., Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. (2017) Journal of Medical Genetics. Mar 6. *Equal contribution
  4. Oud MM*, Tuijnenburg P*, Hempel M*, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJ, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D*, Arts HH*, Kuijpers TW*. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. (2017) American Journal of Human Genetics. Feb 2:100(2):281-296. *Equal contribution
  5. Bredrup C*, Saunier S*, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JF, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BJC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NVAM*, Roepman R*, Arts HH* (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. American Journal of Human Genetics. Nov 11;89(5):634-43. * Equal contribution # Corresponding author