Mendelian Inheritance in Man and its online version, OMIM - PubMed (original) (raw)

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

Janssen AEJ, Koeck RM, Essers R, Cao P, van Dijk W, Drüsedau M, Meekels J, Yaldiz B, van de Vorst M, de Koning B, Hellebrekers DMEI, Stevens SJC, Sun SM, Heijligers M, de Munnik SA, van Uum CMJ, Achten J, Hamers L, Naghdi M, Vissers LELM, van Golde RJT, de Wert G, Dreesen JCFM, de Die-Smulders C, Coonen E, Brunner HG, van den Wijngaard A, Paulussen ADC, Zamani Esteki M. Janssen AEJ, et al. Nat Commun. 2024 Sep 2;15(1):7164. doi: 10.1038/s41467-024-51508-1. Nat Commun. 2024. PMID: 39223156 Free PMC article.