Associated Papers
Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways.
Turley TN et al.
Journal of Cardiovascular Development and Disease, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
The Molecular Genetics of Marfan Syndrome.
Du Q et al.
International Journal of Medical Sciences, 2021
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A et al.
Brain : a Journal of Neurology, 2019
30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
Aubart M et al.
European Journal of Human Genetics : Ejhg, 2018
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M et al.
European Journal of Medical Genetics, 2018
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
Montaut S et al.
Jama Neurology, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
Age-related mutations and chronic myelomonocytic leukemia.
Mason CC et al.
Leukemia, 2016
26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST10
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