Deborah Barbouth

2.3k total citations
32 papers, 678 citations indexed

About

Deborah Barbouth is a scholar working on Genetics, Molecular Biology and Physiology. According to data from OpenAlex, Deborah Barbouth has authored 32 papers receiving a total of 678 indexed citations (citations by other indexed papers that have themselves been cited), including 15 papers in Genetics, 14 papers in Molecular Biology and 10 papers in Physiology. Recurrent topics in Deborah Barbouth's work include Lysosomal Storage Disorders Research (9 papers), Genomic variations and chromosomal abnormalities (8 papers) and Metabolism and Genetic Disorders (6 papers). Deborah Barbouth is often cited by papers focused on Lysosomal Storage Disorders Research (9 papers), Genomic variations and chromosomal abnormalities (8 papers) and Metabolism and Genetic Disorders (6 papers). Deborah Barbouth collaborates with scholars based in United States, Argentina and United Kingdom. Deborah Barbouth's co-authors include Elizabeth Berry‐Kravis, Ave M. Lachiewicz, Sharon A. Kidd, Carol Delahunty, Jeannie Visootsak, Neal J. Weinreb, Veronica J. Peschansky, Claes Wahlestedt, Chiara Pastori and José Silva and has published in prestigious journals such as SHILAP Revista de lepidopterología, Blood and PEDIATRICS.

In The Last Decade

Deborah Barbouth

30 papers receiving 661 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Deborah Barbouth United States 11 412 285 183 118 85 32 678
Cíntia Barros Santos-Rebouças Brazil 17 311 0.8× 378 1.3× 80 0.4× 100 0.8× 82 1.0× 64 767
Nicole Créau France 16 335 0.8× 397 1.4× 61 0.3× 47 0.4× 66 0.8× 25 801
Jirair K. Bedoyan United States 20 220 0.5× 516 1.8× 78 0.4× 199 1.7× 77 0.9× 48 996
Megan T. Cho United States 20 462 1.1× 508 1.8× 79 0.4× 24 0.2× 65 0.8× 27 838
Bhooma Thiruvahindrapuram Canada 14 500 1.2× 420 1.5× 147 0.8× 15 0.1× 123 1.4× 47 880
Marzia Pollazzon Italy 14 494 1.2× 368 1.3× 143 0.8× 21 0.2× 43 0.5× 31 692
Nathalie Van der Aa Belgium 19 388 0.9× 412 1.4× 92 0.5× 18 0.2× 38 0.4× 26 809
Joyce So Canada 13 438 1.1× 328 1.2× 35 0.2× 59 0.5× 40 0.5× 26 643
Gerarda Cappuccio Italy 15 287 0.7× 348 1.2× 33 0.2× 53 0.4× 55 0.6× 59 611
Sureni V. Mullegama United States 15 308 0.7× 315 1.1× 65 0.4× 26 0.2× 31 0.4× 27 564

Countries citing papers authored by Deborah Barbouth

Since Specialization
Citations

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

Fields of papers citing papers by Deborah Barbouth

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Deborah Barbouth

This figure shows the co-authorship network connecting the top 25 collaborators of Deborah Barbouth. A scholar is included among the top collaborators of Deborah Barbouth 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 Deborah Barbouth. Deborah Barbouth 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.
Camarena, Vladimir, Monique Williams, Alejo A. Morales, et al.. (2024). ADAMTSL2 mutations determine the phenotypic severity in Geleophysic Dysplasia. JCI Insight. 9(5). 5 indexed citations
2.
Corti, Manuela, Barry J. Byrne, Dominic J. Gessler, et al.. (2023). Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation. Molecular Therapy — Methods & Clinical Development. 30. 303–314. 15 indexed citations
3.
Barbouth, Deborah, et al.. (2023). P371: Initial evaluation of newborn screening for X-linked adrenoleukodystrophy in South Florida. SHILAP Revista de lepidopterología. 1(1). 100399–100399.
4.
Mistry, Pramod K., Manisha Balwani, Deborah Barbouth, et al.. (2020). Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Molecular Genetics and Metabolism. 130(3). 164–169. 23 indexed citations
5.
Guo, Shengru, Willa Thorson, Stephanie Hacker, et al.. (2020). A founder noncoding GALT variant interfering with splicing causes galactosemia. Journal of Inherited Metabolic Disease. 43(6). 1199–1204. 1 indexed citations
6.
Potocki, Lorraine, et al.. (2019). Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome. American Journal of Medical Genetics Part A. 179(7). 1366–1370. 3 indexed citations
7.
Barbouth, Deborah, et al.. (2019). Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome. Movement Disorders Clinical Practice. 6(5). 409–410. 1 indexed citations
8.
Weinreb, Neal J., Deborah Barbouth, & Robert Lee. (2016). Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy. Blood Cells Molecules and Diseases. 68. 211–217. 23 indexed citations
9.
Al‐Sannaa, Nouriya, Deborah Barbouth, Cyril Goizet, et al.. (2015). Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships. Orphanet Journal of Rare Diseases. 10(1). 131–131. 60 indexed citations
10.
Herman, Elizabeth, et al.. (2014). Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience. Journal of Community Genetics. 5(3). 223–231. 8 indexed citations
11.
Barbouth, Deborah, et al.. (2014). Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes. Orphanet Journal of Rare Diseases. 9(1). 45–45. 15 indexed citations
12.
Yrigollen, Carolyn M., Loreto Martorell, Blythe Durbin‐Johnson, et al.. (2014). AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. Journal of Neurodevelopmental Disorders. 6(1). 24–24. 82 indexed citations
13.
14.
Fan, Yao‐Shan, Xiaomei Ouyang, Mustafa Tekin, et al.. (2013). Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Molecular Cytogenetics. 6(1). 38–38. 25 indexed citations
15.
González, Mercedes E., et al.. (2009). Macrocephaly‐Capillary Malformation: A Report of Three Cases and Review of the Literature. Pediatric Dermatology. 26(3). 342–346. 16 indexed citations
16.
Yu, S., Deborah Barbouth, P.J. Benke, Peter E. Warburton, & Ying Fan. (2007). Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH. Cytogenetic and Genome Research. 116(1-2). 141–145. 6 indexed citations
17.
Fan, Yao‐Shan, Parul Jayakar, Hongbo Zhu, et al.. (2007). Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Human Mutation. 28(11). 1124–1132. 93 indexed citations
18.
Barbouth, Deborah, et al.. (2007). Screening Newborns for Galactosemia Using Total Body Galactose Oxidation to CO2 in Expired Air. Pediatric Research. 62(6). 720–724. 3 indexed citations
19.
Barbouth, Deborah, Tatiana I. Slepak, Helene Klapper, Kent Lai, & Louis J. Elsas. (2006). Prevention of a molecular misdiagnosis in galactosemia. Genetics in Medicine. 8(3). 178–182. 7 indexed citations
20.
Barbouth, Deborah & Jeffrey P. Brosco. (2002). Screening, Evaluation, and Management of a Child With Developmental Delay. 2(1). 33–45. 6 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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