Lies H Hoefsloot
Overview
Explore the profile of Lies H Hoefsloot including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
106
Citations
3680
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Ghasempour S, Warner N, Guan R, Rodari M, Ivanochko D, Whittaker Hawkins R, et al.
J Exp Med
. 2024 Nov;
221(12).
PMID: 39526957
Integrin heterodimers containing an Integrin alpha V subunit are essential for development and play critical roles in cell adhesion and signaling. We identified biallelic variants in the gene coding for...
2.
Diderich K, Bruggenwirth H, Joosten M, Thurik F, Mijalkovic J, Polak M, et al.
Prenat Diagn
. 2024 Sep;
44(12):1444-1450.
PMID: 39349395
Background: The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies. Methods: We performed a retrospective analysis of the...
3.
Heutinck P, van den Born L, Vermeer M, Iglesias Gonzales A, Hoyng C, Pott J, et al.
Invest Ophthalmol Vis Sci
. 2024 Aug;
65(10):40.
PMID: 39189993
Purpose: Gene-based therapies for inherited retinal dystrophies (IRDs) are upcoming. Treatment before substantial vision loss will optimize outcomes. It is crucial to identify common phenotypes and causative genes in children....
4.
Diderich K, Klapwijk J, van der Schoot V, van den Born M, Wilke M, Joosten M, et al.
Eur J Med Genet
. 2023 Nov;
67:104884.
PMID: 37972850
No abstract available.
5.
van Zutven L, Mijalkovic J, van Veghel-Plandsoen M, Goense M, Polak M, Knapen M, et al.
Mol Cytogenet
. 2023 Sep;
16(1):26.
PMID: 37775759
Background: Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal testing (NIPT)...
6.
Diderich K, Klapwijk J, van der Schoot V, van den Born M, Wilke M, Joosten M, et al.
Eur J Med Genet
. 2023 Sep;
66(10):104844.
PMID: 37709011
Background: Although in general prenatal exome sequencing only reports (likely) pathogenic variants, in some cases a variant of uncertain significance (VUS) is disclosed. The aims of this retrospective study were...
7.
Haarman A, Klaver C, Tedja M, Roosing S, Astuti G, Gilissen C, et al.
Ophthalmol Sci
. 2023 May;
3(4):100303.
PMID: 37250922
Purpose: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Although common variants explain part of the genetic predisposition (18%), most of the estimated 70% heritability...
8.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kuhn N, et al.
Acta Neuropathol
. 2023 Apr;
146(2):353-368.
PMID: 37119330
Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. Whole genome sequencing identified...
9.
Dekker J, Schot R, Bongaerts M, De Valk W, van Veghel-Plandsoen M, Monfils K, et al.
Am J Hum Genet
. 2023 Jan;
110(2):251-272.
PMID: 36669495
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic diagnosis in NDDs. Transcriptome analysis (RNA...
10.
Douben H, Nellist M, van Unen L, Elfferich P, Kasteleijn E, Hoogeveen-Westerveld M, et al.
Hum Mutat
. 2022 Oct;
43(12):2130-2140.
PMID: 36251260
Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can...