Dorien Lugtenberg
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 30 publications
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.
Journal: The New England journal of medicine
Published: June 15, 2026
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
Journal: NPJ genomic medicine
Published: September 26, 2023
Genome sequencing as a generic diagnostic strategy for rare disease.
Journal: Genome medicine
Published: September 21, 2023
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Journal: NPJ genomic medicine
Published: February 25, 2022
Later Response to Corticosteroids in Adults With Primary Focal Segmental Glomerular Sclerosis Is Associated With Favorable Outcomes.
Journal: Kidney international reports
Published: August 27, 2021
Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family.
Journal: The Pan African medical journal
Published: April 26, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
Journal: HGG advances
Published: April 01, 2021
Polycystic liver disease genes: Practical considerations for genetic testing.
Journal: European journal of medical genetics
Published: November 25, 2020
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Journal: Journal of the American Society of Nephrology : JASN
Published: November 11, 2020
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.
Journal: European journal of human genetics : EJHG
Published: November 02, 2020
Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.
Journal: Reproductive biomedicine online
Published: April 03, 2019
Last Updated: 09/26/2026