Jennifer Goldstein

4.0k citations

48 papers · 1.7k indexed · h-index 22

Rheumatology top 2%
- Glycogen Storage Diseases and Myoclonus 16
Gastroenterology top 5%
Genetics top 5%
- Genetics and Neurodevelopmental Disorders 6
- Genomics and Rare Diseases 5
Clinical Biochemistry top 5%
- Metabolism and Genetic Disorders 3
Physiology top 5%
- Lysosomal Storage Disorders Research 14
Organic Chemistry
- Carbohydrate Chemistry and Synthesis 7
Molecular Biology
- Biochemical and Molecular Research 4
Global and Planetary Change
- Marine and fisheries research 4

Co-authors: Deeksha Bali Priya S. Kishnani Catherine Rehder Molly E. Lutcavage Stephanie Austin Jian Dai Robert S. Schick Sarah P. Young
Cited by: Rheumatology Gastroenterology Genetics
Journals: Journal of Clinical Oncology (1 paper)SHILAP Revista de lepidopterología (2 papers)Journal of Applied Physiology (1 paper)
Partner nations: United States Canada Germany

In The Last Decade

Jennifer Goldstein

43 papers receiving 1.6k citations

Peers

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

The 25 scholars most cited alongside Jennifer Goldstein, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Jennifer Goldstein Line = papers co-authored together Jennifer Goldstein links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine Journal of Molecular Diagnostics ·Alexa Dickson,Kelsey R. Cone,Barbara K. Fortini,Jennifer Goldstein,Michelle L. Thompson,Matheus Vernet Machado Bressan Wilke,Anna Hurst,Molly C. Schroeder,Katarzyna Polonis,Kevin M. Bowling	2025	0
2	Developing a scoring system for gene curation prioritization in lysosomal diseases Molecular Genetics and Metabolism ·Matheus Vernet Machado Bressan Wilke,Jennifer Goldstein,Emily Groopman,Shruthi Mohan,Amber Waddell,Raquel Fernandez,Hongjie Chen,Deeksha Bali,Heather Baudet,L. Clarke,Christina Hung,Rong Mao,Tatiana Yuzyuk,William J. Craigen,Filippo Pinto e Vairo	2024	0
3	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 ·Shruthi Mohan,Megan Mayers,Meredith Weaver,Heather Baudet,Irene De Biase,Jennifer Goldstein,Rong Mao,Jennifer McGlaughon,Ann B. Moser,Aurora Pujol,Sharon F. Suchy,Tatiana Yuzyuk,Nancy Braverman	2023	0
4	Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation Cell Genomics ·Courtney Thaxton,Jennifer Goldstein,Marina T. DiStefano,Kathleen Wallace,P. Dane Witmer,Melissa Haendel,Ada Hamosh,Heidi L. Rehm,Jonathan S. Berg	2022	17
5	Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties Genetics in Medicine ·Karen E. Wain,Danielle R. Azzariti,Jennifer Goldstein,Amy Knight Johnson,Patti Krautscheid,Brianna Lepore,Julianne O’Daniel,Deborah Ritter,Juliann M. Savatt,Erin Rooney Riggs,Christa Lese Martin	2019	16
6	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 ·Priya S. Kishnani,Jennifer Goldstein,Stephanie Austin,Pamela Arn,Bert Bachrach,Deeksha Bali,Wendy K. Chung,Areeg El‐Gharbawy,Laurie M. Brown,Stephen G. Kahler,Surekha Pendyal,Katalin M. Ross,Laurie A. Tsilianidis,David A. Weinstein,Michael S. Watson	2019	86
7	Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease Genetics in Medicine ·Priya S. Kishnani,James B. Gibson,Michael J. Gambello,Richard E. Hillman,David W. Stockton,David Kronn,Nancy D. Leslie,Loren Peña,Pranoot Tanpaiboon,John Day,Raymond Wang,Jennifer Goldstein,Kristina An Haack,Susan Sparks,Yang Zhao,Si Houn Hahn	2019	9
8	Treatment outcome of creatine transporter deficiency: international retrospective cohort study Metabolic Brain Disease ·Theodora U. J. Bruun,Sarah Sidky,Anabela Bandeira,Francoise-Guillaume Debray,Can Fıçıcıoğlu,Jennifer Goldstein,Kairit Joost,Dwight D. Koeberl,Luísa Diogo,Marie‐Cécile Nassogne,Siobhán O’Sullivan,Katrin Õunap,Andreas Schulze,Lionel Van Maldergem,Gajja S. Salomons,Saadet Mercimek‐Andrews	2018	32
9	Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease Molecular Genetics and Metabolism ·Mari Mori,Gloria Haskell,Zoheb B. Kazi,Xiaolin Zhu,Stephanie DeArmey,Jennifer Goldstein,Deeksha Bali,Catherine Rehder,Elizabeth T. Cirulli,Priya S. Kishnani	2017	19
10	Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency JIMD Reports ·Deeksha Bali,Jennifer Goldstein,Keri Fredrickson,Stephanie Austin,Surekha Pendyal,Catherine Rehder,Priya S. Kishnani	2017	15
11	New observation of sialuria prompts detection of liver tumor in previously reported patient Molecular Genetics and Metabolism ·Neena L. Champaigne,Jules G. Leroy,Priya S. Kishnani,Jochen Decaestecker,E. Steenkiste,Alka Chaubey,Jiarui Li,Chris Verslype,Jo Van Dorpe,Laura Pollard,Jennifer Goldstein,Louis Libbrecht,Monica J. Basehore,Nansheng Chen,He-Ping Hu,Tim Wood,Michael J. Friez,Marjan Huizing,Roger E. Stevenson	2016	2
12	CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy Genetics in Medicine ·Kathryn L. Berrier,Zoheb B. Kazi,Sean N. Prater,Deeksha Bali,Jennifer Goldstein,Mihaela C. Stefanescu,Catherine Rehder,Eleanor G. Botha,Carolyn Ellaway,Kaustuv Bhattacharya,Anna Tylki‐Szymańska,Nesrin Karabul,Amy Rosenburg,Priya S. Kishnani	2015	49
13	Clinical laboratory experience of blood CRIM testing in infantile Pompe disease SHILAP Revista de lepidopterología ·Deeksha Bali,Jennifer Goldstein,Catherine Rehder,Zoheb B. Kazi,Kathryn L. Berrier,Jian Dai,Priya S. Kishnani	2015	12
14	Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders Human Molecular Genetics ·Li Zhu,Xiaoming Wang,Xinlei Li,Aaron J. Towers,Xinyu Cao,Ping Wang,Rachel Bowman,Hyuna Yang,Jennifer Goldstein,Yi‐Ju Li,Yong‐hui Jiang	2013	109
15	Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene Molecular Genetics and Metabolism ·Deeksha Bali,Jennifer Goldstein,Keri Fredrickson,Catherine Rehder,Anne Boney,Stephanie Austin,David A. Weinstein,Richard E. Lutz,Avihu Boneh,Priya S. Kishnani	2013	41
16	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 ·Deeksha Bali,Jennifer Goldstein,Suhrad G. Banugaria,Jian Dai,Joanne Mackey,Catherine Rehder,Priya S. Kishnani	2012	97
17	Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III Genetics in Medicine ·Jennifer Goldstein,Stephanie Austin,Keri Boyette,Angela Kanaly,Aravind Veerapandiyan,Catherine Rehder,Priya S. Kishnani,Deeksha Bali	2010	35
18	Human Exposure to Selected Animal Neurocarcinogens: A Biomarker-Based Assessment and Implications for Brain Tumor Epidemiology Journal of Toxicology and Environmental Health Part B ·Dora Il’yasova,Bridget J. McCarthy,Serap Erdal,Joanna Shimek,Jennifer Goldstein,Daniel R. Doerge,Steven R. Myers,Paolo Vineis,John S. Wishnok,James A. Swenberg,Darell D. Bigner,Faith G. Davis	2009	4
19	Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization Journal of the American Academy of Dermatology ·Luis M. Franco,Jennifer Goldstein,Neil S. Prose,M. Angélica Selim,Carlos A Tirado,Melissa M. Coale,Marie McDonald	2006	18
20	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 ·Eva Wardelmann,Aksana Hrychyk,Sabine Merkelbach‐Bruse,Katharina Pauls,Jennifer Goldstein,Peter Hohenberger,Inge Losen,C. Manegold,Reinhard Büttner,Torsten Pietsch	2004	136

About Jennifer Goldstein

Jennifer Goldstein is a scholar working on Rheumatology, Physiology and Genetics, having authored 48 papers that have together received 1.7k indexed citations. Recurring topics across this work include Glycogen Storage Diseases and Myoclonus (16 papers), Lysosomal Storage Disorders Research (14 papers), Carbohydrate Chemistry and Synthesis (7 papers), Genetics and Neurodevelopmental Disorders (6 papers), Genomics and Rare Diseases (5 papers), Biochemical and Molecular Research (4 papers), Marine and fisheries research (4 papers) and Metabolism and Genetic Disorders (3 papers). The work is most often cited by research in Rheumatology (530 citations), Gastroenterology (128 citations) and Genetics (555 citations). Jennifer Goldstein has collaborated with scholars based in United States, Canada and Germany. Frequent 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. Their work appears in journals such as Journal of Clinical Oncology, SHILAP Revista de lepidopterología and Journal of Applied Physiology.

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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