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6. Optical genome mapping as a potential Tier1 test for Postnatal Chromosomal Disorders – results of multi-institutional validation study of 331 retrospective clinical samples
Optical genome mapping (OGM), an emerging next-generation cytogenetics tool enables a comprehensive analysis of geno...
31. Rare familial rearrangement with acrocentric satellite material on Yp relocating to Xp in a female fetus
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8. Optical genome mapping analysis of FMR1 expansions in fragile X syndrome
Fragile X syndrome (FXS) is associated with cognitive impairment and intellectual disability. Nearly all cases of FX...
35. Toward understanding the structure and function of the mammalian genome
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33. Variability in sex and phenotype: Impact of a familial pathogenic DHX37 variant leading to 46,XY gonadal dysgenesis
Our patient, assigned female at birth, was evaluated at age 17 for delayed puberty and short stature. She also had a...
34. A rare case of 46,XX/47,XXY mosaic Klinefelter syndrome in an infant
Klinefelter syndrome is a sex chromosome disorder that occurs in approximately 1 in 600 males and is classically cha...
32. Genetic testing for individuals with non-syndromic differences in sex development (DSD): collaborative approach yields results
Differences of Sex Development (DSD) are a group of conditions in which there is atypical anatomic, gonadal, or chro...
18. Trisomy 18p detected in DNA from saliva but absent in DNA from blood
Molecular diagnostic testing using DNA from saliva specimens markedly increased recently due to the ease of sample c...
3. Complex and cryptic EWSR1-FLI1 gene fusions and 1q jumping translocation in pediatric Ewing sarcomas
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14. Four-way translocation in a patient with mild clitoromegaly
Balanced reciprocal translocations are frequent chromosomal rearrangements between two nonhomologous chromosomes wit...
16. Uniparental disomy (UPD) of multiple chromosomes in two cases with a complex phenotype
Uniparental disomy (UPD) is the inheritance of both homologues of a chromosome from one parent. UPD can result in ab...
10. Capture-based transcriptome sequencing (RNA-Seq) and optical genome mapping (OGM) enhance detection of newly described molecular subtypes of pediatric B-lymphoblastic leukemia (B-ALL)
Molecular subtypes of pediatric B lymphoblastic leukemia (B-ALL) discovered in recent years by comprehensive genomic...
12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum
Technological breakthroughs in human genetics have introduced genome sequencing as a viable strategy to explore the ...
22. Reducing diagnostic FISH turn-around-time: A rapid pipeline for BCR::ABL1 and PML::RARA suspected leukemias
Successful long-term outcome of patients with BCR::ABL1 positive chronic myeloid leukemia (CML) and PML::RARA positi...
21. A case of supernumerary ring chromosome 20 involving the gene ASXL1 resulting in brain abnormalities
Reports in the medical literature of supernumerary ring chromosome 20 are rare. Previous studies of duplication and ...
1. Clinical utility of low-pass whole genome sequencing (LP-WGS) and targeted panel sequencing in liquid biopsies for disease diagnosis and monitoring of patients with pediatric solid tumors
We designed a liquid biopsy (LB) platform combining LP-WGS and targeted mutation and gene fusion analysis of cell-fr...
Influence of germline test results on surgical decision making in women with invasive breast cancer
Murtha Cancer Center/Research Program, Uniformed Services University of the Health Sciences and Walter Reed National Milit...
Longitudinal change of genetic variations in cetuximab-treated metastatic colorectal cancer
International Agency for Research on Cancer. Cancer Today: data visualization tools for exploring the global cancer burden...
Determination of the key ccRCC-related molecules from monolayer network to three-layer network
Siegel RL Miller KD Jemal A. Cancer statistics, 2019.CA Cancer J Clin. 2019; 69: 7-34View in Artic...
Novel MET exon 14 skipping analogs characterized in non-small cell lung cancer patients: A case study
IntroductionThe MET gene, located at chromosome 7q21-q31, encodes the widely expressed receptor of hepatocyte growth facto...
Mitochondrial DNA polymorphisms and biogenesis genes in primary and metastatic uveal melanoma cell lines
Kashyap S Meel R Singh L Singh M. Uveal melanoma.Semin Diagn Pathol. 33: 141-147Jager MJ Shields CL Cebulla CM Abdel-Rahma...
Hereditary inflammatory fibroid polyps caused by germline pathogenic variants in PDGFRA: Refining PDGFRA-mutation syndrome
Gastric submucosal granuloma with eosinophilic infiltration.Am J Pathol. 1949; 25: 397-411Pasini B McWhinney SR Bei T et a...
Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD
We report a novel case of multiple paragangliomas in a patient who was identified with pathogenic variants...
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma
IntroductionIMAGe syndrome is an acronym of the major clinical findings of this disorder: intrauterine growth restriction,...
Whole-exome sequencing in osteosarcoma with distinct prognosis reveals disparate genetic heterogeneity
Siegel RL Miller KD Jemal A. Cancer statistics.CA-Cancer J. Clin. 2018; 68 (2018): 7-30View in Art...
Molecular follow-up of first-line treatment by osimertinib in lung cancer: Importance of using appropriate tools for detecting EGFR resistance mutation C797S
Among the cohort of the FLAURA trial, the most common resistance marker found in the samples of 91 patients which underwen...
Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma
Meyer C Burmeister T Gröger D Tsaur G Fechina L Renneville A et al.The MLL recombinome of acute leukemias in 2017.Leukemia...
Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma
Johns Hopkins Genomics, Johns Hopkins University School of Medicine, Baltimore, MD 21205Clinical Cytogenetics Laboratory, ...
Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: a descriptive study
Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, Montréal, QC, CanadaResearch Institute of the McGil...
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients
Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Bar...
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