Jaclyn B. Murry - Concepedia

Author

Jaclyn B. Murry

Boston Children's Hospital ORCID

Also Known As

Amy L. McGuire, Jaclyn B Murry, Jaclyn B. Murry, Jaclyn Murry, Murry, Jaclyn B.

Publications

1.5K

Citations

H-Index

Concepts

All Affiliations

Boston Children's Hospital Brigham and Women's Hospital Broad Institute Harvard University Memorial Sloan Kettering Cancer Center

About

Jaclyn B. Murry is an author at Boston Children's Hospital specializing in pediatrics, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	4	1.2K
2	Health Sciences	1	1	493
3	Biostatistics	1	1	493
4	Pathology	1	1	493
5	Auditory Physiology	1	1	493

Jaclyn B. Murry

Publications

975

Citations

H-Index

Page 1

	Year	Citations
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Human Mutation GeneticsGenetic EpidemiologyPathologyHearing HealthGenomics	2018	493
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project Ozge Ceyhan‐Birsoy, Jaclyn B. Murry, Kalotina Machini, The American Journal of Human Genetics Genomic Sequencing ResultsSequencingNeonatologyNeonatal GenomicsNewborn Screening	2019	295
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project Monica H. Wojcik, Tian Zhang, Ozge Ceyhan‐Birsoy, Genetics in Medicine Newborn ScreeningNeonatal GenomicsSequencingConventional Newborn ScreeningMedicine	2021	82
Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill,	2018	43
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders Ilaria Mannucci, Nghi Dang, Hannes Huber, Genome Medicine	2021	30
Diagnostic and Prognostic/Therapeutic Significance of Comprehensive Analysis of Bone and Soft Tissue Tumors Using Optical Genome Mapping and Next-Generation Sequencing Jen Ghabrial, Victoria Stinnett, Efrain Ribeiro, Modern Pathology	2024	12
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case report Jaclyn B. Murry, Kalotina Machini, Ozge Ceyhan‐Birsoy, Molecular Case Studies	2018	10
Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas Ying Zou, Laura Morsberger, Melanie Hardy, Genes	2023	10

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