Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Rai A et al.
American Journal of Human Genetics, 2025
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Rai A et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Dardas Z et al.
Genome Medicine, 2024
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ et al.
Nature Communications, 2022
35882841 (PubMed )
Supplement: 41467_2022_31446_MOESM1_ESM.pdf
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Kingsmore SF et al.
American Journal of Human Genetics, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Clark MM et al.
Science Translational Medicine, 2019
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
28274167 (PubMed )
Supplement: supplement_1.doc
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
Hagen EM et al.
Human Genetics, 2016
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
Mohapatra B et al.
Human Molecular Genetics, 2009
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Roessler E et al.
Molecular Genetics and Metabolism, 0
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