Lisenka E. L. M. Vissers

发表

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

R. Pfundt, N. de Leeuw, M. Fichera, 2006, Nature Genetics.

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

M. Parker, B. Vries, W. Nillesen, 2012, European Journal of Human Genetics.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

J. Schuurs-Hoeijmakers, J. Veltman, W. Kloosterman, 2012, Nature Genetics.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

B. V. van Bon, J. Veltman, M. Verbeek, 2017, European Journal of Human Genetics.

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

I. Janssen, J. de Ligt, B. Faas, 2012, Expert opinion on biological therapy.

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

R. Pfundt, B. D. de Vries, J. Veltman, 2008, American journal of medical genetics. Part A.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

B. V. van Bon, L. Vissers, B. D. de Vries, 2012, Journal of Medical Genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

T. Wieland, T. Strom, J. Veltman, 2014, Human Genetics.

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.

C. Baker, E. Eichler, T. Graves, 2012, American journal of human genetics.

Heterozygous Mutations of FREM 1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2019 .

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

L. Vissers, J. Veltman, K. Sekiguchi, 2011, PLoS genetics.

Title Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2022 .

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

S. Julia, D. Wieczorek, H. Van Esch, 2022, International journal of molecular sciences.

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes.

P. D. de Jong, J. Veltman, I. Janssen, 2003, BioTechniques.

12p-Amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH

J. Veltman, L. Looijenga, H. Stoop, 2003, Oncogene.

Genotype–phenotype mapping of chromosome 18q deletions by high‐resolution array CGH: An update of the phenotypic map

J. Veltman, H. Brunner, A. V. van Kessel, 2007, American journal of medical genetics. Part A.

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Julie O. Culver, M. Kloor, P. Hutter, 2011, Human mutation.

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

A. Hoischen, M. Nelen, F. Cremers, 2021, HGG advances.

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.

K. Buysse, I. Janssen, C. Gilissen, 2013, Clinical biochemistry.

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3‐q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome

Laurie D. Smith, P. Stankiewicz, W. Reardon, 2007, American journal of medical genetics. Part A.

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome

S. Pietrokovski, H. Mandel, R. Gershoni-baruch, 2015, Neurology.

Detecting de novo mutations in intellectual disability.

A. Hoischen, J. Veltman, H. Brunner, 2014 .