Elizabeth Wohler

1.4k total citations
40 papers, 603 citations indexed

About

Elizabeth Wohler is a scholar working on Genetics, Molecular Biology and Genetics. According to data from OpenAlex, Elizabeth Wohler has authored 40 papers receiving a total of 603 indexed citations (citations by other indexed papers that have themselves been cited), including 19 papers in Genetics, 18 papers in Molecular Biology and 7 papers in Genetics. Recurrent topics in Elizabeth Wohler's work include Genomic variations and chromosomal abnormalities (8 papers), Genomics and Rare Diseases (7 papers) and Congenital Ear and Nasal Anomalies (5 papers). Elizabeth Wohler is often cited by papers focused on Genomic variations and chromosomal abnormalities (8 papers), Genomics and Rare Diseases (7 papers) and Congenital Ear and Nasal Anomalies (5 papers). Elizabeth Wohler collaborates with scholars based in United States, Brazil and Pakistan. Elizabeth Wohler's co-authors include Julie Hoover‐Fong, Denise Batista, Jonathan Pevsner, Ada Hamosh, Eric Stevens, Emily C. Lisi, David Valle, Nara Sobreira, George Thomas and Carolyn Applegate and has published in prestigious journals such as Proceedings of the National Academy of Sciences, SHILAP Revista de lepidopterología and Neurology.

In The Last Decade

Elizabeth Wohler

36 papers receiving 581 citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name h Career Trend Papers Cites
Elizabeth Wohler United States 13 338 266 73 70 62 40 603
Gülen Eda Ütine Türkiye 14 373 1.1× 367 1.4× 77 1.1× 71 1.0× 28 0.5× 114 715
Pamela Magini Italy 16 349 1.0× 347 1.3× 53 0.7× 32 0.5× 119 1.9× 38 717
Elisa Tassano Italy 15 272 0.8× 310 1.2× 46 0.6× 47 0.7× 58 0.9× 54 596
Chin‐To Fong United States 11 197 0.6× 282 1.1× 65 0.9× 58 0.8× 65 1.0× 22 738
Pamela Brock United States 15 286 0.8× 277 1.0× 45 0.6× 59 0.8× 103 1.7× 39 712
Anita Wischmeijer Italy 16 333 1.0× 260 1.0× 96 1.3× 96 1.4× 22 0.4× 29 622
Chiharu Torii Japan 16 243 0.7× 313 1.2× 106 1.5× 75 1.1× 43 0.7× 42 721
Saghira Malik Sharif United Kingdom 10 339 1.0× 343 1.3× 79 1.1× 24 0.3× 32 0.5× 12 672
Olaf Rittinger Austria 17 384 1.1× 433 1.6× 81 1.1× 47 0.7× 24 0.4× 40 785
Edmond G. Lemire Canada 14 202 0.6× 240 0.9× 76 1.0× 142 2.0× 26 0.4× 42 616

Countries citing papers authored by Elizabeth Wohler

Since Specialization
Citations

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

Fields of papers citing papers by Elizabeth Wohler

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Elizabeth Wohler

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

All Works

20 of 20 papers shown
1.
Singh, Mukti, Elizabeth Wohler, Renan Paulo Martin, et al.. (2025). Pathogenic Variation in Fibrillin-2 Confers Susceptibility to Spontaneous Cerebrospinal Fluid Leaks Through Impairment of Cellular Adhesion (S35.005). Neurology. 104(7_Supplement_1).
2.
Ashbrook, Liza, Maya Yamazaki, Elizabeth Wohler, et al.. (2025). CACNA1D is a circadian gene and causes familial advanced sleep phase. Proceedings of the National Academy of Sciences. 122(23). e2424387122–e2424387122.
3.
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.
4.
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
5.
Naz, Sadaf, Asma Mushtaq, Elizabeth Wohler, et al.. (2023). Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes. 14(2). 310–310. 4 indexed citations
6.
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
7.
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
8.
Hillel, Alexander T., Elizabeth Wohler, Nara Sobreira, et al.. (2023). Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis. The Laryngoscope. 133(10). 2533–2539. 4 indexed citations
9.
Jelin, Angie C., Elizabeth Wohler, Renan Paulo Martin, et al.. (2023). De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex. American Journal of Medical Genetics Part A. 194(4). e63501–e63501. 1 indexed citations
10.
Wohler, Elizabeth, Sen Zhao, Steven W. Hwang, et al.. (2023). COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. Human Molecular Genetics. 32(19). 2913–2928. 7 indexed citations
11.
Martin, Renan Paulo, Elizabeth Wohler, Shaima Salman, et al.. (2022). Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome. PLoS Genetics. 18(12). e1010504–e1010504. 9 indexed citations
12.
Chu, M. L., Ellen Moran, Elizabeth Wohler, et al.. (2022). MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity. Journal of Medical Genetics. 60(4). 352–358. 1 indexed citations
13.
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
14.
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
15.
Motta, Fabiana Louise, Renan Paulo Martin, Fernanda Belga Ottoni Porto, et al.. (2019). Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. Genes. 11(1). 24–24. 12 indexed citations
16.
Sisk, Robert A., et al.. (2018). Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis. Journal of Ophthalmology. 2018. 1–13. 3 indexed citations
17.
Sobreira, Nara L. M., Michael F. Walsh, Beth Marosy, et al.. (2011). Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. Genome Research. 21(10). 1720–1727. 33 indexed citations
18.
Sobreira, Nara, Elizabeth T. Cirulli, Dimitrios Avramopoulos, et al.. (2010). Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene. PLoS Genetics. 6(6). e1000991–e1000991. 161 indexed citations
19.
Li, Feng, Emily C. Lisi, Elizabeth Wohler, Ada Hamosh, & Denise Batista. (2009). 3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition. European Journal of Medical Genetics. 52(5). 349–352. 20 indexed citations
20.
Nance, Melonie A., Elizabeth Wohler, Julie Hoover‐Fong, et al.. (2009). Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. American Journal of Medical Genetics Part A. 149A(4). 669–680. 36 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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