Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants.
Fries LE et al.
American Journal of Human Genetics, 2025
Molecular Profiling of Low-Risk Papillary Thyroid Carcinoma (mPTC) on Active Surveillance.
Ramone T et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Tumor cell-based liquid biopsy using high-throughput microfluidic enrichment of entire leukapheresis product.
Mishra A et al.
Nature Communications, 2025
Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants.
Fries LE et al.
Biorxiv : the Preprint Server for Biology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Human Metastatic Cholangiocarcinoma Patient-Derived Xenografts and Tumoroids for Preclinical Drug Evaluation.
Serra-Camprubí Q et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Multi-region sequencing depicts intratumor heterogeneity and clonal evolution in cervical cancer.
Wang C et al.
Medical Oncology (northwood, London, England), 2023
Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.
Tabata J et al.
Cancer Research, 2022
Somatic RET Indels in Sporadic Medullary Thyroid Cancer: Prevalence and Response to Selpercatinib.
Elisei R et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Tumor Evolution in a Patient with Recurrent Endometrial Cancer and Synchronous Neuroendocrine Cancer and Response to Checkpoint Inhibitor Treatment.
Trikalinos NA et al.
The Oncologist, 2021
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.
Hansen AR et al.
Frontiers in Endocrinology, 2021
Biphenotypic Branchioma: A Better Name Than Ectopic Hamartomatous Thymoma for a Neoplasm with HRAS Mutation.
Thompson LDR et al.
Head and Neck Pathology, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.
Qi XP et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.
Wang H et al.
Frontiers in Genetics, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.
Jiang J et al.
Journal of Personalized Medicine, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients.
Paragliola RM et al.
Frontiers in Endocrinology, 2018
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Gui H et al.
Genome Biology, 2017
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Lai Z et al.
Nucleic Acids Research, 2016
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.
Widowati T et al.
European Journal of Human Genetics : Ejhg, 2016
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Kosfeld A et al.
Human Genetics, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
The role of the interactome in the maintenance of deleterious variability in human populations.
Garcia-Alonso L et al.
Molecular Systems Biology, 2014
PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.
Liebrechts-Akkerman G et al.
International Journal of Legal Medicine, 2014
Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.
Carter TC et al.
Journal of Human Genetics, 2012
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
Jeanpierre C et al.
Journal of Medical Genetics, 2011
Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations.
Kjaer S et al.
Nature Structural & Molecular Biology, 2010
[Molecular biology, basic research and diagnosis of Hirschsprung's disease].
Martucciello G et al.
Der Pathologe, 2007
Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.
Kjaer S et al.
Human Molecular Genetics, 2003