Associated Papers
Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.
Nieminen TT et al.
Bmc Cancer, 2025
41023686 (PubMed )
Supplement: 12885_2025_14865_MOESM2_ESM.xlsx › Ad_X.8_FCCX-U
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
Ebrahim MA et al.
Circulation. Genomic and Precision Medicine, 2025
40265264 (PubMed )
Supplement: circcvg-2024-004896-s01.pdf
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
33176122 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_4
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.
Costa C et al.
Neuromuscular Disorders : Nmd, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
Arimura T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2009
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
Cotarelo RP et al.
Clinical Genetics, 2008
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