Erin Torti

1.8k total citations
14 papers, 159 citations indexed

About

Erin Torti is a scholar working on Molecular Biology, Genetics and Surgery. According to data from OpenAlex, Erin Torti has authored 14 papers receiving a total of 159 indexed citations (citations by other indexed papers that have themselves been cited), including 8 papers in Molecular Biology, 6 papers in Genetics and 2 papers in Surgery. Recurrent topics in Erin Torti's work include Genomic variations and chromosomal abnormalities (5 papers), Congenital heart defects research (3 papers) and Hearing, Cochlea, Tinnitus, Genetics (2 papers). Erin Torti is often cited by papers focused on Genomic variations and chromosomal abnormalities (5 papers), Congenital heart defects research (3 papers) and Hearing, Cochlea, Tinnitus, Genetics (2 papers). Erin Torti collaborates with scholars based in United States, Canada and Germany. Erin Torti's co-authors include Stephen R. Braddock, Jacqueline R. Batanian, Jane Juusola, Ellen F. Macnamara, Roy H. Rhodes, James Holt, Kristin G. Monaghan, Amelia Kirby, Gilbert Vézina and Tyra Estwick and has published in prestigious journals such as Journal of Medical Genetics, Human Mutation and European Journal of Human Genetics.

In The Last Decade

Erin Torti

12 papers receiving 156 citations

Peers

Erin Torti

GENET

SURGE

EEE

Allen C. T. Teng Canada

David Schapiro United States

Ryan R. Cupo United States

Albert Z. Lim United Kingdom

Cherisse A. Marcou United States

Agostino Seresini Italy

Felix Dıstelmaıer Germany

Pablo Serrano‐Lorenzo Spain

Stephanie Demuth Germany

Allen C. T. Teng Canada

Erin Torti

166 ×1.6

24 ×0.5

GENET

18 ×0.9

SURGE

6 ×0.4

EEE

30 ×1.9

Citations per year, relative to Erin Torti Erin Torti (= 1×) peers Allen C. T. Teng

Countries citing papers authored by Erin Torti

Since Specialization

Citations

This map shows the geographic impact of Erin Torti'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 Erin Torti with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Erin Torti more than expected).

Fields of papers citing papers by Erin Torti

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Erin Torti. 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 Erin Torti. The network helps show where Erin Torti may publish in the future.

Co-authorship network of co-authors of Erin Torti

This figure shows the co-authorship network connecting the top 25 collaborators of Erin Torti. A scholar is included among the top collaborators of Erin Torti 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 Erin Torti. Erin Torti is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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14 of 14 papers shown

Morrow, Michelle, Erin Torti, Kirsty McWalter, et al.. (2024). MGA-related syndrome: A proposed novel disorder. Human Genetics and Genomics Advances. 6(1). 100387–100387.

McWalter, Kirsty, Erin Torti, Michelle M. Morrow, Jane Juusola, & Kyle Retterer. (2022). Discovery of over 200 new and expanded genetic conditions using GeneMatcher. Human Mutation. 43(6). 760–764. 6 indexed citations

Diaz‐Miranda, Maria Alejandra, Erfan Aref‐Eshghi, Tiffiney R. Hartman, et al.. (2022). Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Human Mutation. 43(12). 1837–1843. 3 indexed citations

Wagner, Matias, Julia Hoefele, Anja Heinze, et al.. (2020). Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. European Journal of Human Genetics. 29(3). 411–421. 17 indexed citations

Bend, Renee, Lior Cohen, Melissa T. Carter, et al.. (2019). Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. European Journal of Human Genetics. 28(1). 76–87. 18 indexed citations

Macnamara, Ellen F., Alanna E. Koehler, Precilla D’Souza, et al.. (2019). Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion ofSLC12A2. Human Mutation. 40(5). 532–538. 34 indexed citations

Foster, Katharine, et al.. (2019). Retinoic acid receptor beta variant‐related colonic hypoganglionosis. American Journal of Medical Genetics Part A. 179(5). 817–821. 2 indexed citations

Dines, Jennifer N., Yajuan J. Liu, Whitney Neufeld‐Kaiser, et al.. (2019). Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. American Journal of Medical Genetics Part A. 179(9). 1783–1790. 12 indexed citations

Kirby, Amelia, et al.. (2016). Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion. Molecular Syndromology. 7(2). 80–86. 8 indexed citations

10.

Chung, Wendy K., Chaim Jalas, Stephen R. Braddock, et al.. (2015). Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. Journal of Medical Genetics. 52(9). 627–635. 36 indexed citations

11.

Davenport, Sandra L. H., et al.. (2014). An intragenic deletion of the gene MNAT1 in a family with pectus deformities. American Journal of Medical Genetics Part A. 164(5). 1293–1297. 2 indexed citations

12.

Torti, Erin, et al.. (2014). Instability of Isochromosome 4p in a Child with Pure Trisomy 4p Syndrome Features and Entire 4q-Arm Translocation. Cytogenetic and Genome Research. 144(4). 280–284. 3 indexed citations

13.

Torti, Erin, et al.. (2013). Oculo‐auriculo‐vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement. American Journal of Medical Genetics Part A. 161(8). 1992–1998. 18 indexed citations

14.

Torti, Erin, et al.. (2013). Oculo-Auriculo-Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement. American Journal of Medical Genetics Part A. n/a–n/a.

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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