Associated Papers
The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.
Pittman M et al.
Genome Research, 2026
Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.
Qin G et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Clinical and molecular response of acute myeloid leukemia harboring non-canonical FLT3 N676K driver mutations to contemporary FLT3 inhibitors.
Roloff GW et al.
Haematologica, 2023
NOTCH Signaling in Mantle Cell Lymphoma: Biological and Clinical Implications.
Deshotels L et al.
International Journal of Molecular Sciences, 2023
Monitoring of Circulating Tumor DNA Predicts Response to Treatment and Early Progression in Follicular Lymphoma: Results of a Prospective Pilot Study.
Fernández-Miranda I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Teerlink CC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Vela V et al.
Virchows Archiv : an International Journal of Pathology, 2022
A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.
Sinha S et al.
Nature Communications, 2021
NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree.
Li L et al.
Journal of Ovarian Research, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.
França MM et al.
Journal of the Endocrine Society, 2020
Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.
Jaramillo Oquendo C et al.
Scientific Reports, 2019
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.
Patiño LC et al.
Human Mutation, 2019
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.
Yang C et al.
Human Molecular Genetics, 2017
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013