Associated Papers
Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.
Zhou Y et al.
Science Advances, 2025
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.
Al Saati A et al.
International Journal of Molecular Sciences, 2023
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Debiec RM et al.
Heart (british Cardiac Society), 2022
Genomic insights in ascending aortic size and distensibility.
Benjamins JW et al.
Ebiomedicine, 2022
Heterozygous NOTCH1 deletion associated with variable congenital heart defects.
Roifman M et al.
Clinical Genetics, 2021
Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.
Koo K et al.
Cancers, 2021
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Parker LE et al.
Journal of the American Heart Association, 2021
Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.
Lee Y et al.
Cancer Research and Treatment, 2021
The pregnancy-associated spontaneous coronary artery dissection in a young woman with a novel missense mutation in NOTCH1: a case report.
Bai B et al.
Bmc Medical Genetics, 2020
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
Novel FGFR2-INA fusion identified in two low-grade mixed neuronal-glial tumors drives oncogenesis via MAPK and PI3K/mTOR pathway activation.
Jain P et al.
Acta Neuropathologica, 2018
Familial co-occurrence of congenital heart defects follows distinct patterns.
Ellesøe SG et al.
European Heart Journal, 2018
Notch1 haploinsufficiency causes ascending aortic aneurysms in mice.
Koenig SN et al.
Jci Insight, 2017
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
Associations between polymorphisms in the NICD domain of bovine NOTCH1 gene and growth traits in Chinese Qinchuan cattle.
Liu M et al.
Journal of Applied Genetics, 2017
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Gillis E et al.
Frontiers in Physiology, 2017
Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis.
Giusti B et al.
Frontiers in Physiology, 2017
Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.
Kent KC et al.
The Journal of Thoracic and Cardiovascular Surgery, 2013
Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.
Foffa I et al.
Bmc Medical Genetics, 2013
Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.
Hoffjan S
Molecular Syndromology, 2012
Factors other than genotype account largely for the phenotypic variation of the pulmonary valve in Syrian hamsters.
Fernández MC et al.
Journal of Anatomy, 2012
Genetic insights into bicuspid aortic valve formation.
Laforest B et al.
Cardiology Research and Practice, 2012
Loss of Gata5 in mice leads to bicuspid aortic valve.
Laforest B et al.
The Journal of Clinical Investigation, 2011
NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT.
Riley MF et al.
Biochimica Et Biophysica Acta, 2011
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.
McKellar SH et al.
The Journal of Thoracic and Cardiovascular Surgery, 2007
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.
Mohamed SA et al.
Biochemical and Biophysical Research Communications, 2006