Heleen H. Arts
Halifax, NS, Canada
Last Updated: 09/26/2026
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Found 33 publications
The Clinical Utility of Sequence-Based Genetic Testing for Fetal Edema Following Non-Diagnostic Microarray Results: A Population-Based Cohort Study.
Journal: Prenatal diagnosis
Published: September 09, 2025
Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.
Journal: Clinical genetics
Published: June 12, 2023
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.
Journal: American journal of medical genetics. Part A
Published: May 02, 2022
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Journal: American journal of medical genetics. Part A
Published: February 16, 2022
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype.
Journal: Journal of medical genetics
Published: October 27, 2021
Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours.
Journal: PloS one
Published: April 23, 2021
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Journal: American journal of medical genetics. Part A
Published: September 23, 2020
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
Journal: American journal of medical genetics. Part A
Published: March 30, 2020
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Journal: Orphanet journal of rare diseases
Published: August 16, 2019
ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion.
Journal: Cancer genetics
Published: December 17, 2018
The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.
Journal: Frontiers in pediatrics
Published: February 09, 2018
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Journal: Pediatric nephrology (Berlin, Germany)
Published: December 09, 2017
Last Updated: 09/26/2026