Elizabeth Bhoj

3.7k total citations
61 papers, 673 citations indexed

About

Elizabeth Bhoj is a scholar working on Genetics, Molecular Biology and Cell Biology. According to data from OpenAlex, Elizabeth Bhoj has authored 61 papers receiving a total of 673 indexed citations (citations by other indexed papers that have themselves been cited), including 38 papers in Genetics, 37 papers in Molecular Biology and 8 papers in Cell Biology. Recurrent topics in Elizabeth Bhoj's work include Genomics and Rare Diseases (11 papers), Genomic variations and chromosomal abnormalities (11 papers) and Genetics and Neurodevelopmental Disorders (9 papers). Elizabeth Bhoj is often cited by papers focused on Genomics and Rare Diseases (11 papers), Genomic variations and chromosomal abnormalities (11 papers) and Genetics and Neurodevelopmental Disorders (9 papers). Elizabeth Bhoj collaborates with scholars based in United States, Grenada and United Kingdom. Elizabeth Bhoj's co-authors include Elaine H. Zackai, Dong Li, Juan Pablo Torres, Ana M. Gómez, Zhijian J. Chen, Xiang Chen, Qinmiao Sun, Asunción Mejías, Vijay Bhoj and Octavio Ramilo and has published in prestigious journals such as Proceedings of the National Academy of Sciences, SHILAP Revista de lepidopterología and ACS Applied Materials & Interfaces.

In The Last Decade

Elizabeth Bhoj

54 papers receiving 655 citations

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Elizabeth Bhoj United States	15	356	286	102	97	84	61	673
Yutaka Negishi Japan	16	233 0.7×	199 0.7×	71 0.7×	52 0.5×	99 1.2×	37	576
Marc Sultan Switzerland	11	390 1.1×	171 0.6×	105 1.0×	50 0.5×	42 0.5×	13	820
Periklis Makrythanasis Switzerland	18	402 1.1×	278 1.0×	54 0.5×	47 0.5×	99 1.2×	58	798
Audrey Letourneau Switzerland	14	333 0.9×	171 0.6×	55 0.5×	29 0.3×	55 0.7×	20	622
Sambuddho Mukherjee United States	12	354 1.0×	365 1.3×	130 1.3×	44 0.5×	44 0.5×	21	752
Quentin B. Vincent France	9	210 0.6×	280 1.0×	101 1.0×	175 1.8×	64 0.8×	12	638
Zhiheng Huang China	12	205 0.6×	98 0.3×	136 1.3×	59 0.6×	107 1.3×	25	471
Sally Rosengren United States	9	293 0.8×	207 0.7×	73 0.7×	38 0.4×	52 0.6×	15	665
Ralston M. Barnes United States	16	614 1.7×	101 0.4×	107 1.0×	168 1.7×	113 1.3×	25	802
Kevin Luk United States	17	724 2.0×	201 0.7×	33 0.3×	149 1.5×	76 0.9×	26	1.0k

Countries citing papers authored by Elizabeth Bhoj

Since Specialization

Citations

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

Fields of papers citing papers by Elizabeth Bhoj

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Elizabeth Bhoj

This figure shows the co-authorship network connecting the top 25 collaborators of Elizabeth Bhoj. A scholar is included among the top collaborators of Elizabeth Bhoj 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 Bhoj. Elizabeth Bhoj 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

Chen, Jun, et al.. (2025). Multimodal Characterization of Rodent Dental Development. ACS Applied Materials & Interfaces. 17(23). 33745–33755.

Strong, Alanna, Caoimhe McKenna, Karen Stals, et al.. (2025). Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay. American Journal of Medical Genetics Part A. 197(10). e64119–e64119. 1 indexed citations

Strong, Alanna, Michael March, Christopher J. Cardinale, et al.. (2024). Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome. Genetics in Medicine. 26(10). 101222–101222. 2 indexed citations

Nomakuchi, Tomoki, Dong Li, Holly Dubbs, et al.. (2024). Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes. American Journal of Medical Genetics Part A. 194(12). e63817–e63817.

Gray, Christopher H., Cara Skraban, Ingo Helbig, et al.. (2024). Expanding the clinical phenotype and variant spectrum associated with RFX7. American Journal of Medical Genetics Part A. 194(12). e63816–e63816. 1 indexed citations

Shah, Yash, Wendy Alcaraz, Meghan C. Towne, et al.. (2022). Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant. British Journal of Haematology. 200(2). 222–228.

Christophers, Briana, Yentli E. Soto Albrecht, Rachit Kumar, et al.. (2022). The Virtual Summer Research Program: supporting future physician-scientists from underrepresented backgrounds. Journal of Clinical and Translational Science. 6(1). e120–e120. 4 indexed citations

Maj, Mary C., Helga V. Toriello, Dong Li, et al.. (2022). A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual. Molecular Genetics & Genomic Medicine. 11(1). e2064–e2064. 3 indexed citations

Grand, Katheryn, et al.. (2021). Genetic skin disorders: The value of a multidisciplinary clinic. American Journal of Medical Genetics Part A. 185(4). 1159–1167. 6 indexed citations

10.

Gold, Nina B., Dong Li, Anna Chassevent, et al.. (2020). Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clinical Genetics. 98(6). 571–576. 10 indexed citations

11.

Sheppard, Sarah E., Anna Smith, Katheryn Grand, et al.. (2020). Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm. American Journal of Medical Genetics Part A. 182(4). 746–754. 6 indexed citations

12.

Wild, K. Taylor, Elizabeth Bhoj, Haowei Du, et al.. (2020). Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome. American Journal of Medical Genetics Part A. 182(12). 2919–2925. 6 indexed citations

13.

Muir, Alison M., Jennifer L. Cohen, Sarah E. Sheppard, et al.. (2020). Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. The American Journal of Human Genetics. 106(5). 623–631. 19 indexed citations

14.

Blackburn, Patrick R., Matthew Schultz, Dong Li, et al.. (2020). Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. Annals of Clinical and Translational Neurology. 7(6). 1013–1028. 5 indexed citations

15.

Aicher, Joseph K., Paul Jewell, Jorge Vaquero-Garcia, Yoseph Barash, & Elizabeth Bhoj. (2020). Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq. Genetics in Medicine. 22(7). 1181–1190. 46 indexed citations

16.

Sheppard, Sarah E., et al.. (2019). Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation. Pediatric Dermatology. 36(6). 1007–1009. 1 indexed citations

17.

Murali, Chaya N., Dong Li, Katheryn Grand, Håkon Håkonarson, & Elizabeth Bhoj. (2019). Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. American Journal of Medical Genetics Part A. 179(4). 655–658. 7 indexed citations

18.

Wenger, Tara, Emily R. Gallagher, & Elizabeth Bhoj. (2018). An Algorithm for the Assessment of Facial Asymmetry in Children With Focus on Etiology and Treatment. The Cleft Palate-Craniofacial Journal. 56(3). 419–424. 1 indexed citations

19.

Nesbitt, Addie I., Elizabeth Bhoj, Kristin McDonald Gibson, et al.. (2015). Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders. American Journal of Medical Genetics Part A. 167(11). 2548–2554. 23 indexed citations

20.

Bhoj, Elizabeth, Sara Halbach, Donna M. McDonald‐McGinn, et al.. (2013). Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence. American Journal of Medical Genetics Part A. 161(9). 2327–2333. 19 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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