Nara L. M. Sobreira

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 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Characterization of Twenty Sequenced Human Genomes

Kimberly Pelak, Kevin V. Shianna, Dongliang Ge et al. · PLoS Genetics · 2010 · 160 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +17

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, Carlos E. Speck‐Martins et al. · American Journal of Medical Genetics Part A · 2017 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17