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Genetics

D-Index
68
Citations
14396
World Ranking
2445
National Ranking
92

Overview

Lies H. Hoefsloot is affiliated with Erasmus University Rotterdam in the Netherlands. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a strong emphasis on Molecular Biology, Genetics, Pediatrics, Perinatology and Child Health, Ophthalmology, and Epidemiology.

The scientist has contributed extensively to topics such as Prenatal Screening and Diagnostics, Genomics and Rare Diseases, Retinal Diseases and Treatments, RNA modifications and cancer, RNA Research and Splicing, Ophthalmology and Visual Impairment Studies, and Corneal surgery and disorders.

Key papers authored or co-authored by Hoefsloot include:

  • Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders (2023) published in The American Journal of Human Genetics
  • The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies (2020) published in Acta Obstetricia Et Gynecologica Scandinavica
  • Whole exome sequencing of known eye genes reveals genetic causes for high myopia (2022) published in Human Molecular Genetics
  • Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast (2020) published in Prenatal Diagnosis
  • Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene (2022) published in Human Mutation

Hoefsloot frequently collaborates with co-authors including Virginie J. M. Verhoeven, Martina Wilke, Marieke Joosten, Tjakko J. van Ham, and Karin E. M. Diderich. Their work has appeared repeatedly in several publication venues, notably Prenatal Diagnosis, Human Mutation, European Journal of Medical Genetics, Human Genetics, and Investigative Ophthalmology & Visual Science.

Best Publications

  • GJB2 mutations and degree of hearing loss: a multicenter study.

    Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin

  • A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases

    Kornelia Neveling;Ilse Feenstra;Christian Gilissen;Lies H. Hoefsloot

  • Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

    Johannes G. Dauwerse;Jill Dixon;Saskia Seland;Claudia A L Ruivenkamp

  • Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

    M R Nelen;H Kremer;I B Konings;F Schoute

  • Next-generation genetic testing for retinitis pigmentosa.

    Kornelia Neveling;Rob W.J. Collin;Christian Gilissen;Ramon A.C. van Huet

  • CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

    J E H Bergman;N Janssen;L H Hoefsloot;M C J Jongmans

  • SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

    Jean Pierre Bayley;Henricus P.M. Kunst;Alberto Cascon;Maria Lourdes Sampietro

  • PTEN mutation in a family with Cowden syndrome and autism.

    Aleide Goffin;Lies H. Hoefsloot;Ermanno Bosgoed;Ann Swillen

  • Mutation update on the CHD7 gene involved in CHARGE syndrome

    Nicole Janssen;Jorieke E. H. Bergman;Morris A. Swertz;Lisbeth Tranebjaerg

  • Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

    Konstantinos Nikopoulos;Christian Gilissen;Alexander Hoischen;C. Erik van Nouhuys

  • Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

    Erwin van Wijk;Ronald J.E. Pennings;Heleen te Brinke;Annemarie Claassen

  • Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

    Aad Verrips;Lies H. Hoefsloot;Gerry C. H. Steenbergen;Joop P. Theelen

  • Mutations in the pre-replication complex cause Meier-Gorlin syndrome

    Louise S Bicknell;Ernie M H F Bongers;Andrea Leitch;Stephen Brown

  • Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation

    Fan Dong;C. van Buitenen;K. Pouwels;Lies Hoefsloot

  • The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

    Erwin van Wijk;Bert van der Zwaag;Theo Peters;Ulrike Zimmermann

  • CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

    M. C. J. Jongmans;C. M. A. van Ravenswaaij-Arts;N. Pitteloud;T. Ogata

  • CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: Six novel mutations and a specific cluster of four mutations

    Nike M. M. L. Stikkelbroeck;Lies H. Hoefsloot;Ilse J. de Wijs;Barto J. Otten

  • Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

    L. H. Hoefsloot;M. Hoogeveen-Westerveld;M. A. Kroos;J. Van Beeumen

  • L1 retrotransposition can occur early in human embryonic development

    José A.J.M. van den Hurk;Iwan C. Meij;Maria del Carmen Seleme;Hiroki Kano

  • Clinical and Genetic Characteristics of Late-onset Stargardt's Disease

    Sarah C. Westeneng-van Haaften;Camiel J.F. Boon;Frans P.M. Cremers;Lies H. Hoefsloot

Frequent Co-Authors

Hannie Kremer
Hannie Kremer Radboud University
Frans P.M. Cremers
Frans P.M. Cremers Radboud University
Cor W. R. J. Cremers
Cor W. R. J. Cremers Radboud University
Carel B. Hoyng
Carel B. Hoyng Radboud University
Rob W.J. Collin
Rob W.J. Collin Radboud University
Anneke I. den Hollander
Anneke I. den Hollander Radboud University
Nine V.A.M. Knoers
Nine V.A.M. Knoers University Medical Center Groningen
Conny M. A. van Ravenswaaij-Arts
Conny M. A. van Ravenswaaij-Arts University Medical Center Groningen
Han G. Brunner
Han G. Brunner Radboud University
Helger G. Yntema
Helger G. Yntema Radboud University

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