Search Results - "Sistermans, Erik A."

A comprehensive performance analysis of sequence-based within-sample testing NIPT methods by Mokveld, Tom, Al-Ars, Zaid, Sistermans, Erik A, Reinders, Marcel

“…Non-Invasive Prenatal Testing is often performed by utilizing read coverage-based profiles obtained from shallow whole genome sequencing to detect fetal copy…”
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WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme by Straver, Roy, Sistermans, Erik A, Holstege, Henne, Visser, Allerdien, Oudejans, Cees B M, Reinders, Marcel J T

“…Genetic disorders can be detected by prenatal diagnosis using Chorionic Villus Sampling, but the 1:100 chance to result in miscarriage restricts the use to…”
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Fetal Fraction of Cell-Free DNA in the Prediction of Adverse Pregnancy Outcomes: A Nationwide Retrospective Cohort Study by Becking, Ellis C, Bekker, Mireille N, Henrichs, Jens, Bax, Caroline J, Sistermans, Erik A, Henneman, Lidewij, Scheffer, Peter G, Schuit, Ewoud

“…To assess the added value of fetal fraction of cell-free DNA in the maternal circulation in the prediction of adverse pregnancy outcomes. Retrospective cohort…”
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Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles by Straver, Roy, Oudejans, Cees B. M., Sistermans, Erik A., Reinders, Marcel J. T.

“…Objective While large fetal copy number aberrations can generally be detected through sequencing of DNA in maternal blood, the reliability of tests depends on…”
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Comprehensive multiparameter genetic analysis improves circulating tumor DNA detection in head and neck cancer patients by Mes, Steven W., Brink, Arjen, Sistermans, Erik A., Straver, Roy, Oudejans, Cees B.M., Poell, Jos B., Leemans, C. René, Brakenhoff, Ruud H.

“…•Circulating tumour DNA (ctDNA) can be detected in patients with HNSCC.•Comprehensive analyses of molecular alterations improves ctDNA detection.•Levels of…”
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Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis by Holstege, Henne, Pfeiffer, Wayne, Sie, Daoud, Hulsman, Marc, Nicholas, Thomas J, Lee, Clarence C, Ross, Tristen, Lin, Jue, Miller, Mark A, Ylstra, Bauke, Meijers-Heijboer, Hanne, Brugman, Martijn H, Staal, Frank J T, Holstege, Gert, Reinders, Marcel J T, Harkins, Timothy T, Levy, Samuel, Sistermans, Erik A

“…The somatic mutation burden in healthy white blood cells (WBCs) is not well known. Based on deep whole-genome sequencing, we estimate that approximately 450…”
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Association between low fetal fraction in cell‐free DNA screening and fetal chromosomal aberrations: A systematic review and meta‐analysis by Becking, Ellis C., Schuit, Ewoud, Baar de Knegt, Sophie M. E., Sistermans, Erik A., Henneman, Lidewij, Bekker, Mireille N., Scheffer, Peter G.

“…Objective To perform a systematic review and meta‐analysis of the available literature on low fetal fraction (LFF) in cell‐free DNA (cfDNA) screening and the…”
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Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate by Cayami, Ferdy K., Claeys, Lauria, de Ruiter, Ruben, Smilde, Bernard J., Wisse, Lisanne, Bogunovic, Natalija, Riesebos, Elise, Eken, Lyra, Kooi, Irsan, Sistermans, Erik A., Bravenboer, Nathalie, Pals, Gerard, Faradz, Sultana M. H., Sie, Daoud, Eekhoff, E. Marelise W., Micha, Dimitra

“…Inherited bone disorders account for about 10% of documented Mendelian disorders and are associated with high financial burden. Their study requires…”
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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria by Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.

“…The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers…”
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Use of Type 5 Single Nucleotide Polymorphisms Allows Noninvasive Prenatal Diagnosis for Consanguineous Families by Sistermans, Erik A

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The bivariate NRIP1/ZEB2 RNA marker permits non-invasive presymptomatic screening of pre-eclampsia by Manders, Vera, Visser, Allerdien, Keijser, Remco, Min, Naomi, Poutsma, Ankie, Mulders, Joyce, van den Berkmortel, Tarah, Hortensius, Marjolein, Jongejan, Aldo, Pajkrt, Eva, Sistermans, Erik A., Sie, Daoud, Best, Myron G., Würdinger, Tom, de Boer, Marjon, Afink, Gijs, Oudejans, Cees

“…Using genome-wide transcriptome analysis by RNA sequencing of first trimester plasma RNA, we tested whether the identification of pregnancies at risk of…”
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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome by Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans

“…A clinically recognizable 9q subtelomeric deletion syndrome has recently been established. Common features seen in these patients are severe mental…”
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WisecondorFF: Improved Fetal Aneuploidy Detection from Shallow WGS through Fragment Length Analysis by Mokveld, Tom, Al-Ars, Zaid, Sistermans, Erik A, Reinders, Marcel

“…In prenatal diagnostics, NIPT screening utilizing read coverage-based profiles obtained from shallow WGS data is routinely used to detect fetal CNVs. From this…”
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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome by Willatt, Lionel, Cox, James, Barber, John, Cabanas, Elisabet Dachs, Collins, Amanda, Donnai, Dian, FitzPatrick, David R., Maher, Eddy, Martin, Howard, Parnau, Josep, Pindar, Lesley, Ramsay, Jacqueline, Shaw-Smith, Charles, Sistermans, Erik A., Tettenborn, Michael, Trump, Dorothy, de Vries, Bert B.A., Walker, Kate, Raymond, F. Lucy

“…We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size…”
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L1 retrotransposition can occur early in human embryonic development by van den Hurk, José A.J.M., Meij, Iwan C., del Carmen Seleme, Maria, Kano, Hiroki, Nikopoulos, Konstantinos, Hoefsloot, Lies H., Sistermans, Erik A., de Wijs, Ilse J., Mukhopadhyay, Arijit, Plomp, Astrid S., de Jong, Paulus T.V.M., Kazazian, Haig H., Cremers, Frans P.M.

“…L1 elements are autonomous retrotransposons that can cause hereditary diseases. We have previously identified a full-length L1 insertion in the CHM…”
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Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms by ISRIE, Mala, HENDRIKS, Yvonne, GIELISSEN, Nicole, SISTERMANS, Erik A, WILLEMSEN, Marjolein H, PEETERS, Hilde, VERMEESCH, Joris R, KLEEFSTRA, Tjitske, VAN ESCH, Hilde

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GWAS shows the genetics behind cell-free DNA and highlights the importance of p.Arg206Cys in DNASE1L3 for non-invasive testing by Linthorst, Jasper, Nivard, Michel, Sistermans, Erik A.

“…The properties of cell-free DNA (cfDNA) are intensely studied for their potential as non-invasive biomarkers. We explored the effect of common genetic variants…”
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Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21 by Pandya, Pranav, Levy, Brynn, Sistermans, Erik A

“…This is a written summary of the oral debate presented at the International Society for Prenatal Diagnosis annual conference in Edinburgh in 2023. The topic…”
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The Importance of Reliable Quality Control Materials for Noninvasive Prenatal Testing by Sistermans, Erik A

“…Because most laboratories receive only one or two 10-mL blood tubes for testing, and because most tests need at least 1 to 2 mL of plasma, a particular sample…”
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Fetal fraction in noninvasive prenatal testing and adverse pregnancy outcomes: a response by Becking, Ellis C., Sistermans, Erik A., Bekker, Mireille N.

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