Associated Papers
Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.
Zhong H et al.
Frontiers in Microbiology, 2026
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML.
Wu Y et al.
Nature Communications, 2024
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
Peng Y et al.
Bmc Medical Genomics, 2023
Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.
Gentien D et al.
Cell Reports, 2023
Deciphering Brain Metastasis Stem Cell Properties From Colorectal Cancer Highlights Specific Stemness Signature and Shared Molecular Features.
Desette A et al.
Cellular and Molecular Gastroenterology and Hepatology, 2023
First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
Wang Y et al.
Bmc Medical Genomics, 2022
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
Integrated Analysis of Ovarian Juvenile Granulosa Cell Tumors Reveals Distinct Epigenetic Signatures and Recurrent TERT Rearrangements.
Vougiouklakis T et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Successful treatment of hepatosplenic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation.
Honda T et al.
International Journal of Hematology, 2022
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Chuan Z et al.
Frontiers in Genetics, 2022
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
KMT2C mutation is a diagnostic molecular marker for primary thyroid osteosarcoma: A case report and literature review.
Wang X et al.
Frontiers in Medicine, 2022
Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.
Zhang W et al.
Frontiers in Pediatrics, 2022
Distinct genetic landscape and a low response to doxorubicin in a luminal-A breast cancer cell line of Pakistani origin.
Shakeel M et al.
Molecular Biology Reports, 2021
Liquid Biopsy in Gastric Cancer: Analysis of Somatic Cancer Tissue Mutations in Plasma Cell-Free DNA for Predicting Disease State and Patient Survival.
Varkalaite G et al.
Clinical and Translational Gastroenterology, 2021
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
López-Cortés A et al.
Bmc Medical Genomics, 2020
Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.
Lee SY et al.
Bmc Cancer, 2020
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.
Porkka NK et al.
Oncotarget, 2020
Genomic Profiling Identified ERCC2 E606Q Mutation in Helicase Domain Respond to Platinum-Based Neoadjuvant Therapy in Urothelial Bladder Cancer.
Hirotsu Y et al.
Frontiers in Oncology, 2020
DNA Sequencing of Small Bowel Adenocarcinomas Identifies Targetable Recurrent Mutations in the ERBB2 Signaling Pathway.
Adam L et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.
Kiselev A et al.
Frontiers in Genetics, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018