Sistermans, Erik A.

Germline KRAS mutations cause Noonan syndrome

Schubbert, S., Zenker, M., Rowe, S. L., Böll, S., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, L.-E., et al. (2006) · Nature Genetics

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

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Diagnostic genome profiling in mental retardation

de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 605

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in The Netherlands

van der Meij, K. R. M., Sistermans, E. A., Macville, M. V. E., Stevens, S. J. C., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Boter, M., Diderich, K. E. M., et al. (2019) · The American Journal of Human Genetics

Prenatal Screening and DiagnosticsGenomics and Rare Diseases

Cited by 372

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J. G. J., Sims, R., Ahmad, S., Amin, N., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 226

L1 retrotransposition can occur early in human embryonic development

van den Hurk, J. A. J. M., Meij, I. C., del Carmen Seleme, M., Kano, H., Nikopoulos, K., Hoefsloot, L. H., Sistermans, E. A., de Wijs, I. J., Mukhopadhyay, A., Plomp, A. S., et al. (2007) · Human Molecular Genetics

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 193

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 193

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

Stikkelbroeck, N. M. M. L., Hoefsloot, L. H., de Wijs, I. J., Otten, B. J., Hermus, A. R. M. M., & Sistermans, E. A. (2003) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 171

Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis

Holstege, H., Pfeiffer, W., Sie, D., Hulsman, M., Nicholas, T. J., Lee, C. C., Ross, T., Lin, J., Miller, M. A., Ylstra, B., et al. (2014) · Genome Research

Cancer Genomics and DiagnosticsAcute Myeloid Leukemia Research

Cited by 152

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., et al. (2013) · The American Journal of Human Genetics

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 138

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

Engelen, M., van der Kooi, A. J., Kemp, S., Wanders, R. J. A., Sistermans, E. A., Waterham, H. R., Koelman, J. T. M., van Geel, B. M., & de Visser, M. (2011) · Journal of the Peripheral Nervous System

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 12