Jaclyn Murry

Jaclyn Murry
Johns Hopkins Medicine | JHUSOM · Department of Pathology

Doctor of Philosophy
Cytogenomics Director

About

12
Publications
1,422
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351
Citations

Publications

Publications (12)
Article
Full-text available
Importance Newborn genomic sequencing (nGS) may provide health benefits throughout the life span, but there are concerns that it could also have an unfavorable (ie, negative) psychosocial effect on families. Objective To assess the psychosocial effect of nGS on families from the BabySeq Project, a randomized clinical trial evaluating the effect of...
Article
Full-text available
Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the imp...
Preprint
Full-text available
Background We aimed to define the clinical and mutational spectrum, and to provide novel molecular insights into DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through family support group, GeneMatcher and our network of collaborators. Novel missense variants were investigate...
Article
Full-text available
Gene-environment interactions contribute to the risk for Autism Spectrum Disorder (ASD). Among environmental factors, prenatal exposure to stress may increase the risk for ASD. To examine if there is an interaction between exposure to maternal stress and reduced dosage or loss of Shank3, wild-type (WT), heterozygous (HET) and homozygous (HOM) femal...
Article
Full-text available
Genomic sequencing provides many opportunities in newborn clinical care, but the challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to be addressed for its broader and effective application. The BabySeq Project is a pilot randomized clinical trial that explores the medical, behavioral, and economic impacts of nGS...
Preprint
Full-text available
Due to the high genetic heterogeneity of hearing loss, current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was cr...
Article
Full-text available
Here, we report a newborn female infant from the well-baby cohort of the BabySeq Project who was identified with compound heterozygous BTD gene variants. The two identified variants included a well-established pathogenic variant (c.1612C>T, p.Arg538Cys) that causes profound biotinidase deficiency (BTD) in homozygosity. In addition, a novel splice v...
Article
To examine whether pathogenic copy number changes (CNCs) can be identified in deoxyribonucleic acid from females with different classes of müllerian anomalies. We conducted array-based copy number variant (CNV) analysis using an oligonucleotide array from deoxyribonucleic acid in 12 adolescent females with various müllerian anomalies. University-af...

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