Suchergebnisse - "Levy, Brynn"

PubPharm (198)

1

Host genome analysis of structural variations by Optical Genome Mapping provides clinically valuable insights into genes implicated in critical immune, viral infection, and viral replication pathways in patients with severe COVID-19

enthalten in: bioRxiv.org | 2024

von Sahajpal, N. | Lai, C. | Hastie, A. | +18

2

Current controversies in prenatal diagnosis : Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21

enthalten in: Prenatal diagnosis | 2024

von Pandya, P. | Levy, B. | Sistermans, E.

3

A framework for the clinical implementation of optical genome mapping in hematologic malignancies

enthalten in: American journal of hematology | 2024

von Levy, B. | Kanagal-Shamanna, R. | Sahajpal, N. | +15

4

Detection of Constitutional Structural Variants by Optical Genome Mapping : A Multisite Study of Postnatal Samples

enthalten in: The Journal of molecular diagnostics : JMD | 2024

von Broeckel, U. | Iqbal, M. | Levy, B. | +10

5

Optical Genome Mapping improves detection and streamlines analysis of structural variants in myeloid neoplasms

enthalten in: bioRxiv.org | 2024

von Raca, G. | Sahoo, T. | Anwar Iqbal, M. | +18

6

Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications

enthalten in: bioRxiv.org | 2023

von Levy, B. | Liu, J. | Iqbal, M. | +13

7

Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis

enthalten in: bioRxiv.org | 2023

von Iqbal, M. | Broeckel, U. | Levy, B. | +11

8

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

enthalten in: American journal of human genetics | 2023

von Lowther, C. | Valkanas, E. | Giordano, J. | +42

9

3' UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay

enthalten in: Genes | 2023

von Bi, X. | Mulhern, M. | Spiegel, E. | +4

10

Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

enthalten in: Journal of translational medicine | 2023

von Greer, S. | Botello, J. | Hongo, D. | +6

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