Associated Papers
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
35768433 (PubMed )
Supplement: 41523_2022_443_MOESM6_ESM.xlsx › Non_-_truncating_variants
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
Thust S et al.
Neurogenetics, 2022
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table2
Benign Hereditary Chorea: An Update.
Peall KJ et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
Veneziano L et al.
Cerebellum (london, England), 2014
Select a paper to view details