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Malgorzata Ilona Srebniak

Observed names: M I Srebniak, M. I. Srebniak, M.I. Srebniak, Malgorzata I Srebniak, Malgorzata I. Srebniak, Malgorzata Srebniak, Małgorzata Srebniak, Srebniak, Malgorzata I.
Institution: Erasmus MC
Observed institutions: Medical University of Silesia, Erasmus MC, Erasmus MC - Sophia Children’s Hospital, Erasmus MC Cancer Institute, University of Silesia in Katowice, Erasmus University Rotterdam
ORCID: 0000-0003-3429-6156
Observed ORCID: 0000-0003-3429-6156
OpenAlex ID: A5057889264
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
2019 · Karuna R.M. van der Meij, Erik A. Sistermans, et al. · The American Journal of Human Genetics · 371
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Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature
2013 · M. C. de wit, M. I. Srebniak, et al. · Ultrasound in Obstetrics and Gynecology · 170
Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta‐analysis
2017 · M. I. Srebniak, M. Joosten, et al. · Ultrasound in Obstetrics and Gynecology · 108
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Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
2011 · Malgorzata Srebniak, Marjan Boter, et al. · European Journal of Human Genetics · 108
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
2022 · Lisanne van Prooyen Schuurman, Erik A. Sistermans, et al. · The American Journal of Human Genetics · 100
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Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
2015 · Malgorzata I Srebniak, Karin EM Diderich, et al. · European Journal of Human Genetics · 79
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
2012 · Malgorzata I Srebniak, Marjan Boter, et al. · Molecular Cytogenetics · 74
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Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype
2014 · M. I. Srebniak, K. E. M. Diderich, et al. · Ultrasound in Obstetrics and Gynecology · 69
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Phenotypic variability of atypical 22q11.2 deletions not includingTBX1
2012 · Judith M.A. Verhagen, Karin E.M. Diderich, et al. · American Journal of Medical Genetics Part A · 68
Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration
2016 · Diane Van Opstal, Malgorzata I Srebniak · Expert Review of Molecular Diagnostics · 67
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Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study
2022 · Catharina J. Heesterbeek, Sietse M. Aukema, et al. · Journal of Clinical Oncology · 62
Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
2020 · Olav B. Petersen, Eric Smith, et al. · Acta Obstetricia Et Gynecologica Scandinavica · 57
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False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review
2016 · Diane Van Opstal, Malgorzata I. Srebniak, et al. · PLoS ONE · 57
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Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies
2014 · Diane Van Opstal, Femke de Vries, et al. · Human Mutation · 51
Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing
2014 · S.L. van der Steen, K.E.M. Diderich, et al. · Clinical Genetics · 49
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism
2013 · Agnieszka Tomaszewska, Agnieszka Podbiol‐Palenta, et al. · American Journal of Medical Genetics Part A · 48
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
2020 · Karin E. M. Diderich, Kathleen Romijn, et al. · Acta Obstetricia Et Gynecologica Scandinavica · 46
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The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences
2016 · S. L. van der Steen, S. R. Riedijk, et al. · Journal of Genetic Counseling · 44
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Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification
2013 · Malgorzata I Srebniak, Karin EM Diderich, et al. · European Journal of Human Genetics · 38
Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT
2016 · Malgorzata I. Srebniak, Merel C. de Wit, et al. · Molecular Cytogenetics · 37
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Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast
2020 · Diane Van Opstal, Geerke M. Eggenhuizen, et al. · Prenatal Diagnosis · 36
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The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies
2017 · Malgorzata I. Srebniak, Maarten F.C.M. Knapen, et al. · Human Mutation · 34
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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies
2021 · Jasmijn E. Klapwijk, Malgorzata I. Srebniak, et al. · Clinical Genetics · 33
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A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype
2013 · Malgorzata Kowalczyk, Agnieszka Tomaszewska, et al. · American Journal of Medical Genetics Part A · 33
Estimates of live birth prevalence of children with D own syndrome in the period 1991–2015 in the N etherlands
2017 · G. de Graaf, J. J. M. Engelen, et al. · Journal of Intellectual Disability Research · 31
Works count: 108
Citation count: 2,577
H-index: 28
I10-index: 50
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