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Select item 86062101.

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

Ikhlas Ben Ayed, Amal Bouzid, Fatma Kammoun, Amal souissi, Olfa Jallouli, Salma Mallouli, Souhir Guidara, Salma Loukil, Hajer Aloulou, Fida Jbeli, Sahar Aouichaoui, Dorra Abid, Fatma Abdelhedi, Chahnez Triki, Hassen Kamoun, Saber Masmoudi

Mol Genet Genomic Med. 2021 Nov; 9(11): e1811. Published online 2021 Sep 22. doi: 10.1002/mgg3.1811

PMCID:: PMC8606210

Abstract Article PDF–1007K

Select item 59831732.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C. Jones, David P. Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002469. doi: 10.1101/mcs.a002469