Chad Shaw
Overview
Explore the profile of Chad Shaw including associated specialties, affiliations and a list of published articles.
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54
Citations
3735
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Recent Articles
1.
Chau M, Anderson S, Song R, Cooper L, Ward P, Yuan B, et al.
Clin Chem
. 2025 Jan;
71(1):141-154.
PMID: 39749505
Background: Disease-causing copy-number variants (CNVs) often encompass contiguous genes and can be detected using chromosomal microarray analysis (CMA). Conversely, CNVs affecting single disease-causing genes have historically been challenging to detect...
2.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, et al.
Am J Hum Genet
. 2024 Jun;
111(7):1271-1281.
PMID: 38843839
There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on clinical care in a...
3.
Yuan B, Schulze K, Assia Batzir N, Sinson J, Dai H, Zhu W, et al.
Genome Med
. 2022 Sep;
14(1):113.
PMID: 36180924
Background: In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach...
4.
Hill E, Robak L, Al-Ouran R, Deger J, Fong J, Vandeventer P, et al.
Neurol Genet
. 2022 Jun;
8(4):e200002.
PMID: 35747619
Background And Objectives: Genetic variants affect both Parkinson disease (PD) risk and manifestations. Although genetic information is of potential interest to patients and clinicians, genetic testing is rarely performed during...
5.
Robak L, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, et al.
Neurol Genet
. 2020 Aug;
6(5):e498.
PMID: 32802956
Objective: To determine how single nucleotide variants (SNVs) and copy number variants (CNVs) contribute to molecular diagnosis in familial Parkinson disease (PD), we integrated exome sequencing (ES) and genome-wide array-based...
6.
Gambin T, Liu Q, Karolak J, Grochowski C, Xie N, Wu L, et al.
Genet Med
. 2020 Jul;
22(11):1768-1776.
PMID: 32655138
Purpose: The goal of this study was to assess the scale of low-level parental mosaicism in exome sequencing (ES) databases. Methods: We analyzed approximately 2000 family trio ES data sets...
7.
Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, et al.
Genet Med
. 2020 Jun;
22(10):1633-1641.
PMID: 32576985
Purpose: Improved resolution of molecular diagnostic technologies enabled detection of smaller sized exonic level copy-number variants (CNVs). The contribution of CNVs to autosomal recessive (AR) conditions may be better recognized...
8.
Sethunath V, Hu H, De Angelis C, Veeraraghavan J, Qin L, Wang N, et al.
Mol Cancer Res
. 2019 Aug;
17(11):2318-2330.
PMID: 31420371
Despite effective strategies, resistance in HER2 breast cancer remains a challenge. While the mevalonate pathway (MVA) is suggested to promote cell growth and survival, including in HER2 models, its potential...
9.
Cao Y, Tokita M, Chen E, Ghosh R, Chen T, Feng Y, et al.
Genome Med
. 2019 Jul;
11(1):48.
PMID: 31349857
Background: Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently detect variants at reduced allelic fractions have only recently...
10.
Liu P, Meng L, Normand E, Xia F, Song X, Ghazi A, et al.
N Engl J Med
. 2019 Jun;
380(25):2478-2480.
PMID: 31216405
No abstract available.