Jonathan A. Bernstein

15.4k citations

116 papers · 5.6k indexed · 4 hit papers · h-index 28

Impact in

Genetics top 0.5%
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Bacterial Genetics and Biotechnology
Developmental Neuroscience top 1%

Papers in

Genetics 65
- Genomics and Rare Diseases 32
- Genomic variations and chromosomal abnormalities 19
- Genetics and Neurodevelopmental Disorders 14
- Connective tissue disorders research 6
Immunology and Allergy 5

Co-authors: Stanley N. Cohen Joachim Hallmayer Sue Lin‐Chao Arkady Khodursky Ricardo E. Dolmetsch Gill Bejerano Masayuki Yazawa Aaron M. Wenger
Journals: Genetics in Medicine (9 papers)Molecular Case Studies (5 papers)Nature (4 papers)American Journal on Intellectual and Developmental Disabilities (4 papers)Pediatric Neurology (4 papers)
Partner nations: United States Germany United Kingdom

In The Last Decade

Jonathan A. Bernstein

107 papers receiving 5.5k citations

Hit Papers

align trajectories log scale

Assembly of functionally integrated human forebrain spheroids 2017 · 888 citations

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

it has ≥500 total citations;
it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
it reaches the top citation threshold in at least one of its specific research topics.

2017 Nature
2016 Nature Genetics
2011 Nature
2002 Proceedings of the National Academy of Sciences

Peers

Countries citing papers authored by Jonathan A. Bernstein

Since Specialization

Citations

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

Fields of papers citing papers by Jonathan A. Bernstein

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Jonathan A. Bernstein. 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 Jonathan A. Bernstein. The network helps show where Jonathan A. Bernstein may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Jonathan A. Bernstein, 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 Jonathan A. Bernstein Line = papers co-authored together Jonathan A. Bernstein links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work
1	Chronic Urticaria Immunology and Allergy Clinics of North America ·César A. Galván, Jonathan A. Bernstein	2025	0
2	Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease Genome Research ·Tanner Jensen, Bohan Ni, Chloe M. Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner, Lauren B Auriemma, Pagé C. Goddard, Archana N. Raja, Euan A. Ashley, Jonathan A. Bernstein, Stephan Züchner, (unknown), Michael D. Greicius, Stephen B. Montgomery, Michael C. Schatz, Matthew T. Wheeler, Alexis Battle	2025	2
3	Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder Journal of Autism and Developmental Disorders ·Caitlin Harrington, Ana Morales, Jonathan A. Bernstein, Rudy Nikkyta Aguaysa Palomeque	2024	0
4	Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant American Journal of Medical Genetics Part A ·Emilia Stellacci, P.F. Sahr, Luca Pannone, David A. Stevenson, Wallace S. Hay, Serenella Venanzi, (unknown), Jonathan A. Bernstein, Marco Tartaglia, Simone Martinelli	2024	0
5	Endotypes, phenotypes, and biomarkers in chronic spontaneous urticaria Annals of Allergy Asthma & Immunology ·David M. Lang, Javed Sheikh, Shyam Joshi, Jonathan A. Bernstein	2024	8
6	Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity PLoS Genetics ·Aaron D. Besterman, Thorsten Althoff, Peter Elfferich, 幸治菊地, А Лексиков Александр, Jonathan A. Bernstein, Yvette van Ierland, K Komiya, Mark Nellist, Jeff Abramson, Julián A. Martínez-Agosto	2021	9
7	Variable clinical severity in TANGO2 deficiency: Case series and literature review American Journal of Medical Genetics Part A ·Jennifer C. Schymick, Малеко Елена Валерьевна, Tina M. Cowan, Maura Ruzhnikov, S. S. Shkramada, Liliana Fernández, Sugun Lee, (unknown), Vamsi V. Yarlagadda, Matthew T. Wheeler, Jonathan A. Bernstein, Gregory M. Enns, Chung Lee	2021	17
8	AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature Science Translational Medicine ·Johannes Birgmeier, Maximilian Haeussler, Cole A. Deisseroth, Ethan Steinberg, Karthik A. Jagadeesh, Alexander Ratner, Harendra Guturu, Aaron M. Wenger, Mark Diekhans, Peter D. Stenson, D.N. Cooper, Christopher Ré, Alan H. Beggs, Jonathan A. Bernstein, Gill Bejerano	2020	56
9	Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome Autism Research ·Isa Cristiana Moreira Fernandes, Alan Weinberg, Jonathan Templin, Cristan Farmer, F. Mille, Jordana Weissman, Paige M. Siper, Jennifer H. Foss‐Feig, Maria del Pilar Trelles, Jonathan A. Bernstein, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Mustafa Şahin, Latha Soorya, Audrey Thurm, Alexander Kolevzon	2020	16
10	Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1 Pediatric Neurology ·Ethan E. Bodle, Wenmiao Zhu, B Chowdhuri, Carolina Tesi Rocha, Pengfei Liu, Jonathan A. Bernstein	2020	6
11	Candidate variants in TUB are associated with familial tremor PLoS Genetics ·M. Reza Sailani, Fereshteh Jahanbani, Charles W. Abbott, Hayan Lee, Amin Zia, Shannon Rego, Juliane Winkelmann, Franziska Hopfner, Tahir Naeem Khan, Nicholas Katsanis, Stefanie H. Müller, Daniela Berg, Zhang Jia-hua, Christian Mychajliw, Günther Deuschl, Jonathan A. Bernstein, Gregor Kuhlenbäumer, M Snyder	2020	1
12	Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons Biological Psychiatry ·Siming Zhang, Xianglong Zhang, Carolin Purmann, Shining Ma, Eleanor R Elie, Huanting Lu, Marcus Ho, Yi‐Ling Huang, Reenal Pattni, Wing Hung Wong, Jonathan A. Bernstein, Joachim Hallmayer, Alexander E. Urban	2020	14
13	A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing Journal of Genetic Counseling ·Diane B. Zastrow, Jennefer N. Kohler, Devon Bonner, Chloe M. Reuter, Liliana Fernández, Megan E. Grove, Dianna G. Fisk, (unknown), Yaping Yang, Christine M. Eng, Patricia A. Ward, David Bick, Elizabeth A. Worthey, Paul G. Fisher, Euan A. Ashley, Jonathan A. Bernstein, Matthew T. Wheeler	2019	5
14	Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review American Journal of Medical Genetics Part A ·Akash Kumar, Diane B. Zastrow, Elijah Kravets, Daniah Beleford, Maura Ruzhnikov, Megan E. Grove, Annika M. Dries, Jennefer N. Kohler, Daryl Waggott, Yaping Yang, Yong Huang, (unknown), Katherine M. Mackenzie, Christine M. Eng, Paul G. Fisher, Euan A. Ashley, Joyce Teng, David A. Stevenson, Joseph T.C. Shieh, Matthew T. Wheeler, Jonathan A. Bernstein	2019	16
15	Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome Pediatric Neurology ·Siddharth Srivastava, Benoît Scherrer, Anna K. Prohl, Rajna Filip‐Dhima, Kush Kapur, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Simon K. Warfield, Mustafa Şahin	2018	16
16	Change in Prevalence of Orofacial Clefts in California between 1987 and 2010 American Journal of Medical Genetics Part A ·Tom W. Andrew, Wei Yang, Jonathan A. Bernstein, Gary M. Shaw	2018	6
17	An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease European Journal of Human Genetics ·Heidi I. Chen, Karthik A. Jagadeesh, Johannes Birgmeier, Aaron M. Wenger, Harendra Guturu, Susan Schelley, Jonathan A. Bernstein, Gill Bejerano	2018	16
18	RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome American Journal of Medical Genetics Part A ·Colleen Macmurdo, Whitney Wooderchak‐Donahue, Pinar Bayrak‐Toydemir, Г.Ш. Магомедов, Matthew B. Wallenstein, Carlos Milla, Joyce Teng, Jonathan A. Bernstein, David A. Stevenson	2016	72
19	Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies American Journal of Medical Genetics Part A ·Natalia Gomez‐Ospina, Jonathan A. Bernstein	2016	25
20	Global analysis of mRNA decay and abundance in Escherichia coli at single-gene resolution using two-color fluorescent DNA microarrays Proceedings of the National Academy of Sciences ·Jonathan A. Bernstein, Arkady Khodursky, María Brumos Vicente, Sue Lin‐Chao, Stanley N. Cohen Hit paper breakdown →	2002	686

About Jonathan A. Bernstein

Jonathan A. Bernstein is a scholar working on Genetics, Immunology and Allergy, Molecular Biology, Genetics and Dermatology, having authored 116 papers that have together received 5.6k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (32 papers), Genomic variations and chromosomal abnormalities (19 papers), Genetics and Neurodevelopmental Disorders (14 papers), Autism Spectrum Disorder Research (8 papers), Urticaria and Related Conditions (7 papers), RNA and protein synthesis mechanisms (7 papers), Connective tissue disorders research (6 papers) and Congenital heart defects research (6 papers). The work is most often cited by research in Genetics (2.2k citations), Developmental Neuroscience (328 citations), Molecular Biology (3.8k citations), Cellular and Molecular Neuroscience (767 citations) and Cognitive Neuroscience (507 citations). Jonathan A. Bernstein has collaborated with scholars based in United States, Germany and United Kingdom. Frequent co-authors include Stanley N. Cohen, Joachim Hallmayer, Sue Lin‐Chao, Arkady Khodursky, Ricardo E. Dolmetsch, Gill Bejerano, Masayuki Yazawa, Aaron M. Wenger, Harendra Guturu and Anca M. Pașca. Their work appears in journals such as Genetics in Medicine, Molecular Case Studies, Nature, American Journal on Intellectual and Developmental Disabilities and Pediatric Neurology.

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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