Bart van Lier
Overview
Explore the profile of Bart van Lier including associated specialties, affiliations and a list of published articles.
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6
Citations
905
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Recent Articles
1.
Neveling K, Mensenkamp A, Derks R, Kwint M, Ouchene H, Steehouwer M, et al.
Clin Chem
. 2016 Dec;
63(2):503-512.
PMID: 27974384
Background: Despite advances in next generation DNA sequencing (NGS), NGS-based single gene tests for diagnostic purposes require improvements in terms of completeness, quality, speed, and cost. Single-molecule molecular inversion probes...
2.
Diekstra A, Bosgoed E, Rikken A, van Lier B, Kamsteeg E, Tychon M, et al.
Clin Chem
. 2014 Oct;
61(1):154-62.
PMID: 25274553
Background: Dideoxy-based chain termination sequencing developed by Sanger is the gold standard sequencing approach and allows clinical diagnostics of disorders with relatively low genetic heterogeneity. Recently, new next generation sequencing...
3.
Hoischen A, van Bon B, Rodriguez-Santiago B, Gilissen C, Vissers L, De Vries P, et al.
Nat Genet
. 2011 Jun;
43(8):729-31.
PMID: 21706002
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous...
4.
Vissers L, de Ligt J, Gilissen C, Janssen I, Steehouwer M, De Vries P, et al.
Nat Genet
. 2010 Nov;
42(12):1109-12.
PMID: 21076407
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common neurodevelopmental and psychiatric diseases, explaining a major...
5.
Gilissen C, Arts H, Hoischen A, Spruijt L, Mans D, Arts P, et al.
Am J Hum Genet
. 2010 Sep;
87(3):418-23.
PMID: 20817137
Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities. We sequenced the exomes of two unrelated CED patients and identified compound...
6.
Hoischen A, van Bon B, Gilissen C, Arts P, van Lier B, Steehouwer M, et al.
Nat Genet
. 2010 May;
42(6):483-5.
PMID: 20436468
Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four...