Jaclyn B. Murry

Johns Hopkins University — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

10h-index1.5kcitations33works3.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(8), Prenatal Screening and Diagnostics(7), Chromosomal and Genetic Variations(6), Genomics and Rare Diseases(4), Genetics and Neurodevelopmental Disorders(4)

Publications32 total

Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing
Genetics in Medicine Open·2025Open Access
Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution
Genes·2025· 1 citedOpen Access
Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution
Scientific Reports·2025Open Access
Clinicopathologic and Molecular Analysis of Malignant Neoplasms With Yolk Sac Tumor Differentiation in Women 40 Years of Age and Older
The American Journal of Surgical Pathology·2025· 3 cited
P689: A multi-site study of constitutional ring chromosomes from 14 cytogenetics laboratories in the United States
Genetics in Medicine Open·2025Open Access
31: Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution
Genetics in Medicine Open·2025Open Access
Diagnostic and Prognostic/Therapeutic Significance of Comprehensive Analysis of Bone and Soft Tissue Tumors Using Optical Genome Mapping and Next-Generation Sequencing
Modern Pathology·2024· 12 cited
A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping
Blood Cancer Journal·2024· 20 citedOpen Access
P088: A comprehensive approach to evaluate genetic abnormalities in plasma cell neoplasms using optical genome mapping and next-generation sequencing
Genetics in Medicine Open·2024Open Access
Acquired Ring Chromosomes in Tumors of Hematopoietic and Lymphoid Tissues
2024
P653: Mosaic X-ring chromosomes (45,X/46,X,r(X)) in Turner syndrome (TS): A case series highlighting 42 years of experience in a single-institution
Genetics in Medicine Open·2024Open Access
Ring Chromosome 2
2024
Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants
Cancers·2023· 7 citedOpen Access
<scp>Live‐born</scp> autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center
American Journal of Medical Genetics Part A·2023
Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas
Genes·2023· 10 citedOpen Access
Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature
OBM Genetics·2022Open Access
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences
Journal of Medical Genetics·2022
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project
JAMA Pediatrics·2021· 77 citedOpen Access
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Genome Medicine·2021· 30 citedOpen Access
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
Genetics in Medicine·2021· 82 citedOpen Access
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Frequent Co-authors

Ying Zou(11), Heidi L. Rehm(9), Casie A. Genetti(9), Richard B. Parad(9), Ingrid A. Holm(9), Robert C. Green(9), Alan H. Beggs(9), Timothy W. Yu(8), Pankaj B. Agrawal(8), Amy L. McGuire(8), Ozge Ceyhan‐Birsoy(7), Matthew S. Lebo(7), Shawn Fayer(7), Victoria Stinnett(7), Kalotina Machini(6), Talia S. Schwartz(6), Stacey Pereira(6), Jill O. Robinson(6), Grace E. VanNoy(6), Susan E. Waisbren(6)