Associated Papers
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S et al.
Journal of Medical Genetics, 2022
35764379 (PubMed )
Supplement: jmedgenet-2022-108476supp001.pdf
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S et al.
Journal of Medical Genetics, 2022
34716235 (PubMed )
Supplement: jmedgenet-2021-108065supp001.pdf
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.
Faily S et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2020
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