SCI Abstract

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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...
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