Search Results - "Sikkema-Raddatz, Birgit"

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.

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.

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.

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.

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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.

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.

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.

ISPD 2019 Abstract Author Index.

Source: Prenatal diagnosis 2020 Supplement; Vol. 40 (1).

Journal Info: Publisher: Wiley-Blackwell ISSN: 0197-3851

ISPD 2018 abstract author index.

Source: Prenatal diagnosis Oct2018 Supplement S1; Vol. 38.

Journal Info: Publisher: Wiley-Blackwell ISSN: 0197-3851

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.

ISPD Author Index.

Source: Prenatal diagnosis Jul2015 Supplement; Vol. 35.

Journal Info: Publisher: Wiley-Blackwell ISSN: 0197-3851

Author Index.

Source: Chromosome research: an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology Jun2011 Supplement; Vol. 19.

Journal Info: Publisher: Springer Nature ISSN: 0967-3849

Abstracts.

Source: Journal of inherited metabolic disease Aug2024 Supplement 1; Vol. 47.

Journal Info: Publisher: Wiley-Blackwell ISSN: 0141-8955

Abstracts.

Source: Journal of inherited metabolic disease Aug2022 Supplement S1; Vol. 45.

Journal Info: Publisher: Wiley-Blackwell ISSN: 0141-8955

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.

Authors: Domingo-Gallego A Furlano M Pybus M et al.

Source: BMC nephrology [BMC Nephrol] 2019 Apr 11; Vol. 20 (1), pp. 126. Date of Electronic Publication: 2019 Apr 11.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE