Associated Papers
Comprehensive molecular landscape of anal squamous cell carcinoma: analysis of tissue and liquid biopsies from 1844 patients.
Smolenschi C et al.
Npj Precision Oncology, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.
Bravo-Perez C et al.
The Journal of Clinical Investigation, 2025
Identification of genetic subtypes in follicular lymphoma.
Shelton V et al.
Blood Cancer Journal, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.
Johnson WT et al.
Blood Advances, 2023
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S et al.
American Journal of Human Genetics, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Aberrant somatic hypermutation of CCND1 generates non-coding drivers of mantle cell lymphomagenesis.
Müller H et al.
Cancer Gene Therapy, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A et al.
International Journal of Molecular Sciences, 2022
Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing.
Li S et al.
Frontiers in Pediatrics, 2022
Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.
Bastos-Oreiro M et al.
Scientific Reports, 2021
Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.
Qiao F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021
Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.
Song Z et al.
Cell Death & Disease, 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.
Zhang W et al.
Bmc Cancer, 2020
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR et al.
Genome Research, 2019
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Histone modifier gene mutations in peripheral T-cell lymphoma not otherwise specified.
Ji MM et al.
Haematologica, 2018
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Lehman N et al.
Clinical Genetics, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Butcher DT et al.
American Journal of Human Genetics, 2017
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N et al.
Human Mutation, 2016
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N et al.
American Journal of Medical Genetics. Part A, 2013
Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma.
Dubuc AM et al.
Acta Neuropathologica, 2013