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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

This work demonstrates a novel preimplantation genetic testing (PGT) method that detects aberrations in both the nuclear and mitochondrial genomes of IVF embryos. The technology traces the origin of chromosomal aberrations to before or after fertilisation.

Anouk E. J. Janssen
Rebekka M. Koeck
Masoud Zamani Esteki
ResearchOpen Access02 Sept 2024
Nature Communications

Volume: 15, P: 1-15
Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience

Vivian Vernimmen
Aimée D. C. Paulussen
Christine E. M. de Die-Smulders
ResearchOpen Access19 Jun 2023
European Journal of Human Genetics

Volume: 31, P: 918-924
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

Marion Drüsedau
Jos C Dreesen
Aimée D Paulussen
Research27 Mar 2013
European Journal of Human Genetics

Volume: 21, P: 1361-1368
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations

Chris MJ van Uum
Servi JC Stevens
Edith Coonen
Research29 Feb 2012
European Journal of Human Genetics

Volume: 20, P: 938-944
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

Senthilkumar A. Natesan
Alex J. Bladon
Alan H. Handyside
ResearchOpen Access08 May 2014
Genetics in Medicine

Volume: 16, P: 838-845

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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations

Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

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