Jennifer Goldstein

4.0k total citations
48 papers, 1.7k citations indexed

About

Jennifer Goldstein is a scholar working on Rheumatology, Physiology and Genetics. According to data from OpenAlex, Jennifer Goldstein has authored 48 papers receiving a total of 1.7k indexed citations (citations by other indexed papers that have themselves been cited), including 17 papers in Rheumatology, 17 papers in Physiology and 16 papers in Genetics. Recurrent topics in Jennifer Goldstein's work include Glycogen Storage Diseases and Myoclonus (16 papers), Lysosomal Storage Disorders Research (14 papers) and Carbohydrate Chemistry and Synthesis (7 papers). Jennifer Goldstein is often cited by papers focused on Glycogen Storage Diseases and Myoclonus (16 papers), Lysosomal Storage Disorders Research (14 papers) and Carbohydrate Chemistry and Synthesis (7 papers). Jennifer Goldstein collaborates with scholars based in United States, Canada and Germany. Jennifer Goldstein's co-authors include Deeksha Bali, Priya S. Kishnani, Catherine Rehder, Molly E. Lutcavage, Stephanie Austin, Jian Dai, Robert S. Schick, Sarah P. Young, David S. Millington and Robin D. Clark and has published in prestigious journals such as Journal of Clinical Oncology, SHILAP Revista de lepidopterología and Journal of Applied Physiology.

In The Last Decade

Jennifer Goldstein

43 papers receiving 1.6k citations

Peers

Jennifer Goldstein
Norman E. Buroker United States
Ou Jin China
Ida G. Lunde Norway
Heather A. Arnett United States
Mehdi Keddache United States
Alex Parker United States
Janine A. Danks Australia
Min‐Hwang Chang United States
Stephen Moore United States
Claudia Kappen United States
Norman E. Buroker United States
Jennifer Goldstein
Citations per year, relative to Jennifer Goldstein Jennifer Goldstein (= 1×) peers Norman E. Buroker

Countries citing papers authored by Jennifer Goldstein

Since Specialization
Citations

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

Fields of papers citing papers by Jennifer Goldstein

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Jennifer Goldstein

This figure shows the co-authorship network connecting the top 25 collaborators of Jennifer Goldstein. A scholar is included among the top collaborators of Jennifer Goldstein 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 Jennifer Goldstein. Jennifer Goldstein 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.
Dickson, Alexa, Barbara K. Fortini, Jennifer Goldstein, et al.. (2025). Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine. Journal of Molecular Diagnostics. 27(10). 936–944.
2.
Goldstein, Jennifer, Emily Groopman, Shruthi Mohan, et al.. (2024). Developing a scoring system for gene curation prioritization in lysosomal diseases. Molecular Genetics and Metabolism. 143(1-2). 108572–108572.
3.
Mohan, Shruthi, Meredith Weaver, Irene De Biase, et al.. (2023). Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature. Molecular Genetics and Metabolism. 139(3). 107604–107604.
4.
Thaxton, Courtney, Jennifer Goldstein, Marina T. DiStefano, et al.. (2022). Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation. Cell Genomics. 2(5). 100131–100131. 17 indexed citations
5.
Wain, Karen E., Danielle R. Azzariti, Jennifer Goldstein, et al.. (2019). Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties. Genetics in Medicine. 22(4). 785–792. 16 indexed citations
6.
Kishnani, Priya S., Jennifer Goldstein, Stephanie Austin, et al.. (2019). Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 21(4). 772–789. 86 indexed citations
7.
Kishnani, Priya S., James B. Gibson, Michael J. Gambello, et al.. (2019). Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Genetics in Medicine. 21(11). 2543–2551. 9 indexed citations
8.
Bruun, Theodora U. J., Anabela Bandeira, Can Fıçıcıoğlu, et al.. (2018). Treatment outcome of creatine transporter deficiency: international retrospective cohort study. Metabolic Brain Disease. 33(3). 875–884. 32 indexed citations
9.
Mori, Mari, Gloria Haskell, Zoheb B. Kazi, et al.. (2017). Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Molecular Genetics and Metabolism. 122(4). 189–197. 19 indexed citations
10.
Bali, Deeksha, Jennifer Goldstein, Stephanie Austin, et al.. (2017). Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency. JIMD Reports. 37. 63–72. 15 indexed citations
11.
Leroy, Jules G., Priya S. Kishnani, Jochen Decaestecker, et al.. (2016). New observation of sialuria prompts detection of liver tumor in previously reported patient. Molecular Genetics and Metabolism. 118(2). 92–99. 2 indexed citations
12.
Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, et al.. (2015). CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy. Genetics in Medicine. 17(11). 912–918. 49 indexed citations
13.
Bali, Deeksha, Jennifer Goldstein, Catherine Rehder, et al.. (2015). Clinical laboratory experience of blood CRIM testing in infantile Pompe disease. SHILAP Revista de lepidopterología. 5. 76–79. 12 indexed citations
14.
Zhu, Li, Xiaoming Wang, Xinlei Li, et al.. (2013). Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. Human Molecular Genetics. 23(6). 1563–1578. 109 indexed citations
15.
Bali, Deeksha, Jennifer Goldstein, Catherine Rehder, et al.. (2013). Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Molecular Genetics and Metabolism. 111(3). 309–313. 41 indexed citations
16.
Bali, Deeksha, Jennifer Goldstein, Suhrad G. Banugaria, et al.. (2012). Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 160C(1). 40–49. 97 indexed citations
17.
18.
Il’yasova, Dora, Bridget J. McCarthy, Serap Erdal, et al.. (2009). Human Exposure to Selected Animal Neurocarcinogens: A Biomarker-Based Assessment and Implications for Brain Tumor Epidemiology. Journal of Toxicology and Environmental Health Part B. 12(3). 175–187. 4 indexed citations
19.
Franco, Luis M., Jennifer Goldstein, Neil S. Prose, et al.. (2006). Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization. Journal of the American Academy of Dermatology. 55(1). 136–138. 18 indexed citations
20.
Wardelmann, Eva, Sabine Merkelbach‐Bruse, Katharina Pauls, et al.. (2004). Association of Platelet-Derived Growth Factor Receptor α Mutations with Gastric Primary Site and Epithelioid or Mixed Cell Morphology in Gastrointestinal Stromal Tumors. Journal of Molecular Diagnostics. 6(3). 197–204. 136 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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