E. H. Hoefsloot

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

M. Huynen, A. Beynon, P. Lichtner, 2018, Human Genetics.

A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.

P. Steijlen, M. van geel, M. V. van Steensel, 2004, The Journal of investigative dermatology.

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2

E. Mariman, L. J. Veer, H. Brunner, 1999, British Journal of Cancer.

Meier-Gorlin syndrome

E. Bongers, H. Brunner, N. Knoers, 2015, Orphanet Journal of Rare Diseases.

Cell-free translation of human lysosomal alpha-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type II.

A. Reuser, M. Kroos, E. H. Hoefsloot, 1987, Biochimica et biophysica acta.

Clinical Diversity in Lysosomal Storage Disorders: Molecular and Cellular Aspects

B. Oostra, A. Reuser, M. Kroos, 1988 .

CLINICAL AND MOLECULAR GENETIC ANALYSIS OF BEST VITELLIFORM MACULAR DYSTROPHY

B. J. Klevering, J. Keunen, F. Cremers, 2009, Retina.

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

C. Cremers, J. Cruysberg, R. Pennings, 2010, Molecular vision.

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment

H. Kremer, I. Feenstra, R. Pennings, 2016, Ear and hearing.

Edinburgh Research Explorer Meier-Gorlin syndrome

E. Bongers, H. Brunner, N. Knoers, 2018 .

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

L. Vissers, R. Pfundt, R. V. van Lingen, 2023, European Journal of Pediatrics.

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study

E. Mylanus, C. Lanting, H. Yntema, 2023, Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale.