A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003756
Tumor heterogeneity and acquired drug resistance in FGFR2-fusion-positive cholangiocarcinoma through rapid research autopsy
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004002
Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004408
BCR-NTRK2 fusion in a low-grade glioma with distinctive morphology and unexpected aggressive behavior
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003855
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004218
Exceptional responders with invasive mucinous adenocarcinomas: a phase 2 trial of bortezomib in patients with KRAS G12D-mutant lung cancers
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003665
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003673
Novel mutations in SLC6A5 with benign course in hyperekplexia
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004465
Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004440
De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf–Hirschhorn syndrome
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004044
Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003764
A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003483
Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a BRAF-mutant pancreatic adenocarcinoma
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004424
Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003608
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004010
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003954
Genomic evolution of uveal melanoma arising in ocular melanocytosis
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004051
Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004499
Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003640
Divergent clonal evolution of a common precursor to mantle cell lymphoma and classic Hodgkin lymphoma
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004259
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003491
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004101
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004739
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003988
Pancreatic cyst fluid harboring a KRAS mutation
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003830
Histone H3K36I mutation in a metastatic histiocytic tumor of the skull and response to sarcoma chemotherapy
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004606
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004481
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004184
Ewing sarcoma in a child with neurofibromatosis type 1
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004580
A case study of a long-term glioblastoma survivor with unmethylated MGMT and hypermutated genotype
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003251
Lynch syndrome–associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003863
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003921
Rapid development and use of patient-specific ctDNA biomarkers to avoid a “rash decision” in an ovarian cancer patient
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004648
Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004374
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004309
Neonatal diabetes mellitus due to a novel variant in the INS gene
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004085
Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003533
Clinical outcomes after whole-genome sequencing in patients with metastatic non-small-cell lung cancer
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a002659
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004200
Dramatic increase in gene mutational burden after transformation of follicular lymphoma into TdT+ B-lymphoblastic leukemia/lymphoma
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004614
22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004291
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004564
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004176
Precision oncogenomics
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004150
Pediatric cancer: case studies illustrate mechanisms to address significant challenges
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004788
DNMT3A co-mutation in an IDH1-mutant glioblastoma
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004119
Comparative RNA-seq analysis aids in diagnosis of a rare pediatric tumor
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004317
Pharmacogenomic considerations for antiplatelet agents: the era of precision medicine in stroke prevention and neurointerventional practice
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a003731
Biallelic loss of GNAS in a patient with pediatric medulloblastoma
来源期刊：Cold Spring Harbor Molecular Case StudiesDOI：10.1101/mcs.a004572
Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.
来源期刊：Cold Spring Harbor molecular case studiesDOI：10.1101/mcs.a004036
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