Associated Papers
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S4Tab_DD-166_DNA_variants
Human Genetics of Atrioventricular Septal Defect.
Maslen CL
Advances in Experimental Medicine and Biology, 2024
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Parker LE et al.
Journal of the American Heart Association, 2021
Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis.
Hariri H et al.
Journal of Dermatological Science, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Ferese R et al.
Human Mutation, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 341.162
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.
Bonachea EM et al.
Bmc Medical Genomics, 2014
Select a paper to view details