Associated Papers
Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres.
Morandi A et al.
Pediatric Obesity, 2024
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
36159980 (PubMed )
Supplement: Table1.XLSX › SNP
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
Fonseca DJ et al.
Pharmacogenomics and Personalized Medicine, 2021
Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.
Kondelin J et al.
Embo Molecular Medicine, 2018
30108113 (PubMed )
Supplement: EMMM-10-e8552-s008.xlsx › Sheet1
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM et al.
Cold Spring Harbor Molecular Case Studies, 2017
Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
Ramachandrappa S et al.
The Journal of Clinical Investigation, 2013
Replication and extension of association between common genetic variants in SIM1 and human adiposity.
Swarbrick MM et al.
Obesity (silver Spring, Md.), 2011
Common variation in SIM1 is reproducibly associated with BMI in Pima Indians.
Traurig M et al.
Diabetes, 2009
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