Search Results - "Sikkema-Raddatz, Birgit"

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.

Authors: Hanemaaijer, Nicolien M Sikkema-Raddatz, Birgit van der Vries, Gerben et al.

Source: European Journal of Human Genetics. Feb2012, Vol. 20 Issue 2, p161-165. 5p. 1 Diagram, 4 Charts.

Central 22q11.2 deletions.

Authors: Rump, Patrick de Leeuw, Nicole van Essen, Anthonie J. et al.

Source: American Journal of Medical Genetics. Part A; Nov2014, Vol. 164A Issue 11, p2707-2723, 17p

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.

Authors: Rump, Patrick Jongbloed, Jan D.H. Sikkema-Raddatz, Birgit et al.

Source: American Journal of Medical Genetics. Part A; Oct2011, Vol. 155A Issue 10, p2566-2570, 5p

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

Authors: Doornbos, Marianne Sikkema-Raddatz, Birgit Ruijvenkamp, Claudia A.L. et al.

Source: European Journal of Medical Genetics. Mar2009, Vol. 52 Issue 2/3, p108-115. 8p.

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.

Authors: Sikkema-Raddatz, Birgit Johansson, Lennart F. de Boer, Eddy N. et al.

Source: Scientific Reports. 12/9/2016, p38359. 1p.

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Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Authors: de Boer, Eddy N. Scheper, Arjen J. Hendriksen, Dennis et al.

Source: International Journal of Molecular Sciences. Apr2025, Vol. 26 Issue 7, p2850. 15p.

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.

Authors: de Boer, Eddy N. Vroom, Vincent Scheper, Arjen J. et al.

Source: Scientific Reports. 4/11/2024, Vol. 14 Issue 1, p1-9. 9p.

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Authors: Feenstra, Ilse Hanemaaijer, Nicolien Sikkema-Raddatz, Birgit et al.

Source: European Journal of Human Genetics. Nov2011, Vol. 19 Issue 11, p1152-1160. 9p. 4 Charts.

Rapid Targeted Genomics in Critically Ill Newborns.

Authors: van Diemen, Cleo C. Kerstjens-Frederikse, Wilhelmina S. Bergman, Klasien A. et al.

Source: Pediatrics. Oct2017, Vol. 140 Issue 4, p40-40. 1p.

Subjects: Catastrophic illness, Intensive care units, Longitudinal method, Neonatal intensive care, Pediatrics, Genomics, Turnaround time, Sequence analysis, Children, Diagnosis

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.

Authors: Velde, K. Joeri Hoek, Sander Dijk, Freerk et al.

Source: Advanced Genetics. Dec2020, Vol. 1 Issue 1, p1-8. 8p.

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.

Authors: Johansson, Lennart F. de Weerd, Hendrik A. de Boer, Eddy N. et al.

Source: BMC Bioinformatics. 12/17/2018, Vol. 19 Issue 1, p1-5. 5p. 1 Graph.

Chromosomal mosaicism in human preimplantation embryos: a systematic review.

Authors: van Echten-Arends, Jannie Mastenbroek, Sebastiaan Sikkema-Raddatz, Birgit et al.

Source: Human Reproduction Update. Sep2011, Vol. 17 Issue 5, p620-627. 8p.

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature

Authors: Raas-Rothschild, Annick Dijkhuizen, Trijnie Sikkema-Raddatz, Birgit et al.

Source: European Journal of Medical Genetics. Mar2009, Vol. 52 Issue 2/3, p140-144. 5p.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Authors: Rump, Patrick Jazayeri, Omid van Dijk-Bos, Krista K. et al.

Source: BMC Medical Genomics. 2/4/2016, p1-9. 9p.

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

Authors: Nowakowska, Beata A de Leeuw, Nicole Ruivenkamp, Claudia AL et al.

Source: European Journal of Human Genetics. Feb2012, Vol. 20 Issue 2, p166-170. 5p. 1 Color Photograph, 3 Diagrams, 1 Chart.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Authors: Willemsen, Marjolein H. Fernandez, Bridget A. Bacino, Carlos A. et al.

Source: European Journal of Human Genetics. Apr2010, Vol. 18 Issue 4, p429-435. 7p. 1 Black and White Photograph, 1 Diagram, 2 Charts.

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

Authors: van Silfhout, Anneke T. van den Akker, Peter C. Dijkhuizen, Trijnie et al.

Source: European Journal of Human Genetics. Nov2009, Vol. 17 Issue 11, p1432-1438. 7p. 1 Black and White Photograph, 2 Diagrams.

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.

Authors: Alimohamed, Mohamed Z. Johansson, Lennart F. Posafalvi, Anna et al.

Source: International Journal of Cardiology. Jun2021, Vol. 332, p99-104. 6p.

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.

Authors: Li, Shuang van der Velde, K. Joeri de Ridder, Dick et al.

Source: Genome Medicine. 8/24/2020, Vol. 12 Issue 1, pN.PAG-N.PAG. 1p.