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Biography and Research Information
OverviewAI-generated summary
Sandra T. Cooper's research focuses on the application of genomic sequencing and analysis to diagnose rare genetic disorders. Her work involves investigating the precise nature of genetic variants, particularly those impacting RNA splicing, and their role in causing disease. Cooper has published on the use of whole-genome sequencing (WGS) and RNA studies to identify noncoding variants in genes such as DMD, which can lead to elevated creatine kinase levels in males. Her research also extends to diagnosing complex conditions, including neurodevelopmental disorders associated with biallelic and monoallelic variants in specific genes, and skeletal muscle myopathies resulting from digenic inheritance involving multiple genes.
Cooper has contributed to studies utilizing genomic autopsy to determine underlying causes of pregnancy loss and perinatal death. Her investigations also encompass identifying genetic variants responsible for conditions like neonatal-lethal dilated cardiomyopathy. She leads a research group and has a significant publication record, with 154 total publications and 7,068 citations, reflected in her h-index of 48. Her collaborative network includes researchers from the University of Arkansas for Medical Sciences, such as Mohammed S. Orloff, Dina M. Jones, Sandilyn Bullock, and Wonda Miller, with whom she has co-authored multiple publications.
Metrics
- h-index: 48
- Publications: 154
- Citations: 7,098
Selected Publications
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Evidence-based practices are effective in increasing smoke-free home rules among Black women who smoke (2025)
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Caregiver restrictions on child access to tobacco in the home and home Smoking/Vaping bans among Black/African American women caregivers who smoke and live in Resource-limited, rural areas (2024)
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Factors associated with smokefree rules in the homes of Black/African American women smokers residing in low-resource rural communities (2022)
Collaboration Network
Top Collaborators
Adam Bournazos
Children's Medical Research Institute (AU)
13 shared publications
- SpliceVault predicts the precise nature of variant-associated mis-splicing
- WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
- Clinical impact of whole-genome sequencing in patients with early-onset dementia
- RNA variant assessment using transactivation and transdifferentiation
- Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
Showing 5 of 13 shared publications
Samantha J. Bryen
Children's Hospital at Westmead (AU)
10 shared publications
- SpliceVault predicts the precise nature of variant-associated mis-splicing
- WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
- Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
- Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
- Compound heterozygous splicing variants expand the genotypic spectrum of <scp> <i>EMC1</i> </scp> ‐related disorders
Showing 5 of 10 shared publications
Leigh B. Waddell
Children's Hospital at Westmead (AU)
9 shared publications
- Genome Sequencing for Diagnosing Rare Diseases
- WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
- Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
- Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
- Compound heterozygous splicing variants expand the genotypic spectrum of <scp> <i>EMC1</i> </scp> ‐related disorders
Showing 5 of 9 shared publications
Frances J. Evesson
Children's Hospital at Westmead (AU)
9 shared publications
- WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
- Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
- Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice
- Compound heterozygous splicing variants expand the genotypic spectrum of <scp> <i>EMC1</i> </scp> ‐related disorders
- Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint
Showing 5 of 9 shared publications
Himanshu Joshi
Children's Medical Research Institute (AU)
8 shared publications
- SpliceVault predicts the precise nature of variant-associated mis-splicing
- Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data
- WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
- Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
- Empirical prediction of variant-associated cryptic-donors with 87% sensitivity and 95% specificity
Showing 5 of 8 shared publications
Michaela Yuen
Children's Hospital at Westmead (AU)
7 shared publications
- Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
- Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
- Lmod2 is necessary for effective skeletal muscle contraction
- Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint
- Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant
Showing 5 of 7 shared publications
Ruebena Dawes
University of Oxford (GB)
6 shared publications
- SpliceVault predicts the precise nature of variant-associated mis-splicing
- Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data
- Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
- Empirical prediction of variant-associated cryptic-donors with 87% sensitivity and 95% specificity
- Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint
Showing 5 of 6 shared publications
Rhett G. Marchant
5 shared publications
- SpliceVault predicts the precise nature of variant-associated mis-splicing
- RNA variant assessment using transactivation and transdifferentiation
- Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
- Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint
- Cortar: quantifying and reporting variant associated mis-splicing from RNA-sequencing
Beryl B. Cummings
University of Padua (IT)
4 shared publications
- Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
- WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
- Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
- Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Mark R. Davis
Pathwest Laboratory Medicine (AU)
4 shared publications
- WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
- Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
- A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre
- Expanding the Allelic Heterogeneity of <i>ANO10</i> -Associated Autosomal Recessive Cerebellar Ataxia
Kristi Jones
Children's Hospital at Westmead (AU)
4 shared publications
- Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
- Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
- A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre
- Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Shobhana Bommireddipalli
UNSW Sydney (AU)
4 shared publications
- SpliceVault predicts the precise nature of variant-associated mis-splicing
- Clinical impact of whole-genome sequencing in patients with early-onset dementia
- Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
- Compound heterozygous splicing variants expand the genotypic spectrum of <scp> <i>EMC1</i> </scp> ‐related disorders
Vijay Ganesh
Broad Institute (US)
4 shared publications
- Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
- Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
- Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
- Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Ben Weisburd
MACOM (United States) (US)
3 shared publications
- Genome Sequencing for Diagnosing Rare Diseases
- WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
- Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Sarah A. Sandaradura
The University of Sydney (AU)
3 shared publications
- WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
- Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
- Expanding the Allelic Heterogeneity of <i>ANO10</i> -Associated Autosomal Recessive Cerebellar Ataxia
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