Concepedia

Nara L. M. Sobreira

NL

Statistics

Publications

8

Citations

584

H-Index

8

Active since

2010

Affiliations

Johns Hopkins University(Current)

Johns Hopkins Medicine

Columbia University

University of Edinburgh

University of Oxford

Nara L. M. Sobreira is an author at Johns Hopkins University specializing in genomics, statistical genetics, and genetics.

Top concepts

Publications per year

2010–2022

8

Publications

8

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett et al. · The American Journal of Human Genetics · 2019 · 276 citations · Full text

The Characterization of Twenty Sequenced Human Genomes

Kimberly Pelak, Kevin V. Shianna, Dongliang Ge et al. · PLoS Genetics · 2010 · 159 citations · Full text

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Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Nara L. M. Sobreira, Veena Gnanakkan, Michael F. Walsh et al. · Genome Research · 2011 · 48 citations · Full text

, , +20

Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

Aida Telegrafi, Bryn D. Webb, Sarah M. Robbins et al. · American Journal of Medical Genetics Part A · 2017 · 37 citations · Full text

Heterozygous loss of <i>WBP11</i> function causes multiple congenital defects in humans and mice

Ella MMA Martin, Annabelle Enriquez, Duncan B. Sparrow et al. · Human Molecular Genetics · 2020 · 24 citations · Full text

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