Whitley V. Kelley
YOU?
Author Swipe
View article: P536: Characterizing a cohort of Parkinson's disease patients and controls in a Peripheral Biomarker Development Study
P536: Characterizing a cohort of Parkinson's disease patients and controls in a Peripheral Biomarker Development Study Open
View article: P329: Molecular and clinical diagnostic outcomes of a changing workflow for hypermobility and Ehlers-Danlos syndrome referrals
P329: Molecular and clinical diagnostic outcomes of a changing workflow for hypermobility and Ehlers-Danlos syndrome referrals Open
View article: P362: Long-read genome sequencing to diagnose rare disease in a state-funded study
P362: Long-read genome sequencing to diagnose rare disease in a state-funded study Open
View article: MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway Open
View article: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders Open
Variant detection from long-read genome sequencing (lrGS) has proven to be more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can increase molecular diagnostic y…
View article: <i>MARK2</i>variants cause autism spectrum disorder<i>via</i>the downregulation of WNT/β-catenin signaling pathway
<i>MARK2</i>variants cause autism spectrum disorder<i>via</i>the downregulation of WNT/β-catenin signaling pathway Open
MARK2 , a member of the evolutionarily conserved PAR1/MARK serine/threonine kinase family, has been identified as a novel risk gene for autism spectrum disorder (ASD) based on the enrichment of de novo loss-of-function (Lof) variants in la…
View article: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders Open
Variant detection from long-read genome sequencing (lrGS) has proven to be considerably more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can increase molecular…
View article: P508: Medically-actionable disease risk variants in a diverse population
P508: Medically-actionable disease risk variants in a diverse population Open
The Alabama Genomic Health Initiative (AGHI) is a state-funded, IRB-approved study that since 2017 has pursued the goals of providing access to genomic technologies to a diverse population and exploring the utility and impact of population…
View article: Table of Contents
Table of Contents Open
View article: Table of Contents
Table of Contents Open
View article: Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder Open
View article: Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit Open
Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents’ experiences with GS as a first-line diagnostic tool for infants wit…
View article: Medical and psychosocial outcomes of state‐funded population genomic screening
Medical and psychosocial outcomes of state‐funded population genomic screening Open
As the uptake of population screening expands, assessment of medical and psychosocial outcomes is needed. Through the Alabama Genomic Health Initiative (AGHI), a state‐funded genomic research program, individuals received screening for pat…
View article: Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study Open
Our study emphasizes the need for clinicians to provide accurate and comprehensible information to individuals from diverse populations after genetic testing.
View article: Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing Open
View article: De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy Open
View article: 338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care
338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care Open
OBJECTIVES/GOALS: Supported by the State of Alabama, the Alabama Genomic Health Initiative (AGHI) is aimed at preventing and treating common conditions with a genetic basis. This joint UAB Medicine-HudsonAlpha Institute for Biotechnology e…
View article: Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk? Open
Content This study examines the potential utility of genetic testing as a supplement to family health history to screen for increased risk of inherited disease. Medical conditions are often misreported or misunderstood, especially those re…
View article: Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing Open
Purpose Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard analyses. Here we anal…
View article: P392: Genomic medicine and primary care: The Alabama Genomic Health Initiative*
P392: Genomic medicine and primary care: The Alabama Genomic Health Initiative* Open
View article: Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting
Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting Open
To meet current and expected future demand for genome sequencing in the neonatal intensive care unit (NICU), adjustments to traditional service delivery models are necessary. Effective programs for the training of non-genetics providers (N…
View article: eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative
eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative Open
View article: eP425: Parental impact of genome sequencing during the neonatal period
eP425: Parental impact of genome sequencing during the neonatal period Open
View article: Genome sequencing as a first-line diagnostic test for hospitalized infants
Genome sequencing as a first-line diagnostic test for hospitalized infants Open
View article: Genome sequencing as a first-line diagnostic test for hospitalized newborns
Genome sequencing as a first-line diagnostic test for hospitalized newborns Open
Purpose SouthSeq, a translational research study to perform genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder, was conducted in NICUs in the Southeastern US. Recruitment targeted racial/ethnic minorities and…
View article: A study of elective genome sequencing and pharmacogenetic testing in an unselected population
A study of elective genome sequencing and pharmacogenetic testing in an unselected population Open
Background Genome sequencing (GS) of individuals without a medical indication, known as elective GS, is now available at a number of centers around the United States. Here we report the results of elective GS and pharmacogenetic panel test…
View article: The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life Open
Background: The desire of parents to obtain a genetic diagnosis for their child with intellectual disability and associated symptoms has long been framed as a diagnostic odyssey, an arduous and sometimes perilous journey focused on …
View article: A state-based approach to genomics for rare disease and population screening
A state-based approach to genomics for rare disease and population screening Open
View article: Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls Open
View article: Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls
Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls Open
Purpose To evaluate the effectiveness and specificity of population-based genomic screening in Alabama. Methods The Alabama Genomic Health Initiative (AGHI) has enrolled and evaluated 5,369 participants for the presence of pathogenic/likel…