Associated Papers
Origins of Second Malignancies in Children and Mutational Footprint of Chemotherapy in Normal Tissues.
Sánchez-Guixé M et al.
Cancer Discovery, 2024
Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.
Ovejero D et al.
Bone, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.
Maturo MG et al.
Scientific Reports, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
Identification of potentially druggable molecular alterations in skin adnexal malignancies.
Cavalieri S et al.
The Journal of Dermatology, 2019
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer.
Liu Y et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2018
Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.
Raskin L et al.
Oncotarget, 2017
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
Chassaing N et al.
Genome Research, 2016
Hedgehog pathway mutations in T-cell acute lymphoblastic leukemia.
Dagklis A et al.
Haematologica, 2015
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.
Brastianos PK et al.
Nature Genetics, 2013
Contributions of PTCH gene variants to isolated cleft lip and palate.
Mansilla MA et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2006