Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Duplication and deletion of CFC1 associated with heterotaxy syndrome.
Cao R et al.
Dna and Cell Biology, 2015
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
Roessler E et al.
American Journal of Human Genetics, 2008
Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease.
Selamet Tierney ES et al.
Cardiology in the Young, 2007
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
de la Cruz JM et al.
Human Genetics, 2002
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
Goldmuntz E et al.
American Journal of Human Genetics, 2002
Genetic basis of syndromes associated with congenital heart disease.
Gelb BD
Current Opinion in Cardiology, 2001
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
Bamford RN et al.
Nature Genetics, 2000
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