Chromosomal mosaicism in human preimplantation embryos: a systematic review

…, S Mastenbroek, B Sikkema-Raddatz… - Human reproduction …, 2011 - academic.oup.com
b For each category two examples are provided for illustrative purposes. Number between
b For each category two examples are provided for illustrative purposes. Number between …

[HTML][HTML] In vitro fertilization with preimplantation genetic screening

…, B Sikkema-Raddatz… - … England Journal of …, 2007 - Mass Medical Soc
Background Pregnancy rates in women of advanced maternal age undergoing in vitro
fertilization (IVF) are disappointingly low. It has been suggested that the use of preimplantation …

Targeted next‐generation sequencing can replace Sanger sequencing in clinical diagnostics

B SikkemaRaddatz, LF Johansson… - Human …, 2013 - Wiley Online Library
Mutation detection through exome sequencing allows simultaneous analysis of all coding
sequences of genes. However, it cannot yet replace S anger sequencing ( SS ) in diagnostics …

Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals

…, AJ van Essen, R Hordijk, B Sikkema-Raddatz… - European journal of …, 2009 - Elsevier
Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental
retardation and/or multiple congenital anomalies (MR/MCA) has led to the identification of …

[PDF][PDF] TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands

…, E Sikkel, B Sikkema-Raddatz… - The American Journal of …, 2019 - cell.com
The Netherlands launched a nationwide implementation study on non-invasive prenatal
testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as …

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

…, AT Das, B Berkhout, B Sikkema-Raddatz… - Nature …, 2014 - nature.com
Despite developments in targeted gene sequencing and whole-genome analysis techniques,
the robust detection of all genetic variation, including structural variants, in and around …

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges

…, JDH Jongbloed, B Sikkema-Raddatz… - Expert review of …, 2015 - Taylor & Francis
Next-generation sequencing (NGS) will soon be used for clinically heterogeneous, inherited
disorders and the increasing number of disease-causing genes reported. Diagnostic …

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

…, C Ruivenkamp, B Sikkema-Raddatz… - European journal of …, 2009 - Elsevier
Anomalies of chromosome number and structure are considered to be the most frequent
cause of unexplained, non-syndromic developmental delay and mental retardation (DD/MR). …

Genome‐wide arrays in routine diagnostics of hematological malignancies

A Simons, B SikkemaRaddatz, N de Leeuw… - Human …, 2012 - Wiley Online Library
B: SNP array ratio plot from Genome Studio software (Illumina), displaying the B-allele
frequency plot and the signal intensity logR ratio from two consecutive deletions (4.2 and 2.9 MB, …

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

…, JJP Gille, B Sikkema-Raddatz… - Journal of medical …, 2013 - jmg.bmj.com
Background Childhood-onset pulmonary arterial hypertension (PAH) is rare and differs from
adult-onset disease in clinical presentation, with often unexplained mental retardation and …