Nara Sobreira

4.6k total citations · 1 hit paper
61 papers, 1.3k citations indexed

About

Nara Sobreira is a scholar working on Molecular Biology, Genetics and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Nara Sobreira has authored 61 papers receiving a total of 1.3k indexed citations (citations by other indexed papers that have themselves been cited), including 28 papers in Molecular Biology, 27 papers in Genetics and 8 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Nara Sobreira's work include Genomics and Rare Diseases (14 papers), Genomic variations and chromosomal abnormalities (9 papers) and Connective tissue disorders research (6 papers). Nara Sobreira is often cited by papers focused on Genomics and Rare Diseases (14 papers), Genomic variations and chromosomal abnormalities (9 papers) and Connective tissue disorders research (6 papers). Nara Sobreira collaborates with scholars based in United States, Brazil and Canada. Nara Sobreira's co-authors include David Valle, Ada Hamosh, François Schiettecatte, Kimberly F. Doheny, Corinne D. Boehm, Julie A. Jurgens, Hua Ling, Jing You, Elizabeth Wohler and Elizabeth Pugh and has published in prestigious journals such as SHILAP Revista de lepidopterología, Neurology and Clinical Cancer Research.

In The Last Decade

Nara Sobreira

57 papers receiving 1.3k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

2015 449 citations Nara Sobreira, François Schiettecatte et al. profile →

Peers

Nara Sobreira

GENET

SURGE

PRM

Anju Shukla India

Monika Goś Poland

Sarah Smithson United Kingdom

Sheela Nampoothiri India

Francis Rousseau France

Anas M. Alazami Saudi Arabia

Isabelle Thiffault United States

Christel Thauvin‐Robinet France

Abdulrahman Alswaid Saudi Arabia

Arif O. Khan Saudi Arabia

Anju Shukla India

Nara Sobreira

610 ×0.9

496 ×0.7

GENET

78 ×0.6

89 ×0.8

SURGE

57 ×0.6

PRM

Citations per year, relative to Nara Sobreira Nara Sobreira (= 1×) peers Anju Shukla

Countries citing papers authored by Nara Sobreira

Since Specialization

Citations

This map shows the geographic impact of Nara Sobreira's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Nara Sobreira with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Nara Sobreira more than expected).

Fields of papers citing papers by Nara Sobreira

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Nara Sobreira. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Nara Sobreira. The network helps show where Nara Sobreira may publish in the future.

Co-authorship network of co-authors of Nara Sobreira

This figure shows the co-authorship network connecting the top 25 collaborators of Nara Sobreira. A scholar is included among the top collaborators of Nara Sobreira based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Nara Sobreira. Nara Sobreira is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Wohler, Elizabeth, et al.. (2024). Ring Chromosome 17 Syndrome—A Case Report and Discussion of Diagnostic Methods. American Journal of Medical Genetics Part A. 197(3). e63925–e63925.

Neto, Nilton Salles Rosa, Charles Marques Lourenço, & Nara Sobreira. (2024). POLYOSTOTIC MELORHEOSTOSIS, JOINT CONTRACTURES, BRACHYDACTYLY, AND DELAYED BONE AGE: EVALUATION OF A NOVEL SKELETAL DYSPLASIA PHENOTYPE. 1–1.

Cohen, Bernard A., Clifford R. Weiss, Carolina Montaño, et al.. (2023). Genetic testing in the evaluation of individuals with clinical diagnosis of atypicalSturge–Webersyndrome. American Journal of Medical Genetics Part A. 191(4). 983–994. 4 indexed citations

Sobreira, Nara, Sean J. Griffith, Corina Antonescu, et al.. (2023). P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant. SHILAP Revista de lepidopterología. 1(1). 100734–100734. 1 indexed citations

Tierney, William S., Ruth J. Davis, Elizabeth Wohler, et al.. (2023). Mapping Genetic Susceptibility to Stenosis in the Proximal Airway. The Laryngoscope. 133(11). 3049–3056. 5 indexed citations

Valle, David, et al.. (2023). A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2. Revista Paulista de Pediatria. 41. e2022057–e2022057. 2 indexed citations

Bailey, Christopher R., et al.. (2023). Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands. American Journal of Medical Genetics Part A. 191(6). 1570–1575. 2 indexed citations

Motta, Fabiana Louise, Rafael Filippelli-Silva, João Paulo Kitajima, et al.. (2021). Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis. Ophthalmic Genetics. 42(5). 553–560. 2 indexed citations

Kline, Jennie, Badri N. Vardarajan, Avinash Abhyankar, et al.. (2021). Embryonic lethal genetic variants and chromosomally normal pregnancy loss. Fertility and Sterility. 116(5). 1351–1358. 8 indexed citations

10.

Jelin, Angie C., Nara Sobreira, Elizabeth Wohler, et al.. (2020). The utility of exome sequencing for fetal pleural effusions. Prenatal Diagnosis. 40(5). 590–595. 10 indexed citations

11.

Koprulu, Mine, Muhammad Shuaib, Nara Sobreira, et al.. (2020). Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism. Journal of Human Genetics. 65(12). 1115–1123. 3 indexed citations

12.

Schnappauf, Oskar, Qing Zhou, Natalia Sampaio Moura, et al.. (2020). Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. Journal of Clinical Immunology. 40(6). 917–926. 27 indexed citations

13.

Fichtman, Boris, Tamar Harel, Carolyn Applegate, et al.. (2019). Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy. The American Journal of Human Genetics. 105(1). 48–64. 21 indexed citations

14.

Sobreira, Nara, Martha Brucato, Li Zhang, et al.. (2017). Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. European Journal of Human Genetics. 25(12). 1335–1344. 38 indexed citations

15.

Moreno, Carolina, Konradin Metze, Débora Romeo Bertola, et al.. (2016). Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. American Journal of Medical Genetics Part A. 170(11). 2965–2974. 27 indexed citations

16.

You, Jing, Nara Sobreira, Dustin L. Gable, et al.. (2016). A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2 , a Gene Encoding a Component of the TTT Complex. The American Journal of Human Genetics. 98(5). 909–918. 26 indexed citations

17.

Jurgens, Julie A., Hua Ling, Kurt N. Hetrick, et al.. (2015). Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics. Genetics in Medicine. 17(10). 782–788. 35 indexed citations

18.

Gripp, Karen W., Katherine Robbins, Nara Sobreira, et al.. (2014). Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. American Journal of Medical Genetics Part A. 167(2). 271–281. 59 indexed citations

19.

Sobreira, Nara, Michael F. Walsh, Denise Batista, & Tao Wang. (2009). Interstitial deletion 5q14.3‐q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. American Journal of Medical Genetics Part A. 149A(11). 2581–2583. 14 indexed citations

20.

Sobreira, Nara, et al.. (2008). Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. Clinical Dysmorphology. 17(2). 145–148. 1 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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