Chad A. Shaw

Baylor College of Medicine — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

89h-index28.3kcitations400works3.32yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(101), Genomics and Rare Diseases(55), Prenatal Screening and Diagnostics(38), Congenital heart defects research(35), Cancer Cells and Metastasis(31)

Publications398 total

Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles
2025Open Access
Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila
The American Journal of Human Genetics·2025Open Access
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models
Developmental Biology·2025Open Access
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
European Journal of Human Genetics·2025· 2 citedOpen Access
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases
The American Journal of Human Genetics·2025Open Access
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
European Journal of Human Genetics·2025· 1 citedOpen Access
Revealing the nervous system requirements of Alzheimer’s disease risk genes in <i>Drosophila</i>
2025Open Access
Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson’s disease
2025· 1 citedOpen Access
Hematopoietic stem and progenitor cells confer cross-protective trained immunity in mouse models
iScience·2025· 2 citedOpen Access
Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage
Clinical Chemistry·2025· 2 cited
P700: Clinical exome sequencing efficacy and phenotypic expansions involving congenital anomalies of kidney and urinary tract (CAKUT)
Genetics in Medicine Open·2025Open Access
The Causal Pivot: A Structural Approach to Genetic Heterogeneity and Variant Discovery in Complex Diseases
2024Open Access
3038 – INFECTION ACTIVATED HEMATOPOIETIC STEM CELLS MEDIATE TRAINED IMMUNITY
Experimental Hematology·2024
<i>Notes from the Field:</i> Health Monitoring, Testing, and Case Identification Among Persons Exposed to Influenza A(H5N1) — Michigan, 2024
MMWR Morbidity and Mortality Weekly Report·2024· 2 citedOpen Access
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
The American Journal of Human Genetics·2024· 15 citedOpen Access
Targeted accurate RNA consensus sequencing (tARC-seq) reveals mechanisms of replication error affecting SARS-CoV-2 divergence
Nature Microbiology·2024· 18 citedOpen Access
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma
Investigative Ophthalmology & Visual Science·2024· 7 citedOpen Access
The impact of the Turkish population variome on the genomic architecture of rare disease traits
Genetics in Medicine Open·2024· 9 citedOpen Access
Hematopoietic Stem and Progenitor Cell Trained Immunity Is Heterogeneous and Cross-Protective in a Mouse Model of <i>M. Avium</i> Infection
Blood·2023Open Access
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
European Journal of Human Genetics·2023· 8 citedOpen Access
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Frequent Co-authors

James R. Lupski(18), Arthur L. Beaudet(13), Sau Wai Cheung(11), Ankita Patel(11), Paweł Stankiewicz(10), Huda Y. Zoghbi(8), Carlos A. Bacino(8), Weimin Bi(7), Christine M. Eng(7), Seema R. Lalani(7), A. Craig Chinault(7), Richard A. Gibbs(6), V. Reid Sutton(6), Molly S. Bray(6), Amber N. Pursley(6), Trilochan Sahoo(6), Fan Xia(5), Patricia A. Ward(5), Paul F. Bray(5), Donna M. Muzny(4)