Jonathan A. Bernstein

ScholarGPS® ID: 62409290135838

Affiliation
Stanford University, Stanford, United States
Affiliation History

Field
Medicine
Discipline
Pediatrics
Top Specialties
Medical Genetics | Mutation | Genetic Counseling | Exome Sequencing | Neuron | RNA | Birth Defect | DNA | Genomics | Molecular Genetics | Pathogen
Metrics Summary
Publication Count
107
Predicted Citations
8,529
Predicted h-index
36
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder (journal article)
Harrington, Caitlin N. | Morales, Ana | Bernstein, Jonathan A. | Calderwood, Laurel
Journal of Autism and Developmental Disorders (2024).
10.1007/s10803-024-06423-1
Cite | Source
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome (journal article)
Levy, Tess | Gluckman, Jacob | Siper, Paige M. | Halpern, Danielle | Zweifach, Jessica | Filip-Dhima, Rajna | Holder, J. Lloyd | Trelles, M. Pilar | Johnson, Kristina | Bernstein, Jonathan A. | ... | Srivastava, Siddharth
Journal of Neurodevelopmental Disorders, volume 16, issue 1 (2024).
10.1186/s11689-024-09541-0
Cite | Source
Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease (journal article)
Delwarde, Constance | Toquet, Claire | Boureau, Anne Sophie | Le Ruz, Robin | Le Scouarnec, Solena | Mérot, Jean | Kyndt, Florence | Bernstein, Daniel | Bernstein, Jonathan A | Aalberts, Jan J J | ... | Capoulade, Romain
Heart (2023).
10.1136/heartjnl-2023-323491
Cite | Source
A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder (P11-9.004) (journal article)
Levy, Rebecca | Timothy, Katherine | Underwood, Jack | Hall, Jeremy | Bernstein, Jonathan | Pasca, Sergiu
Neurology, volume 100, issue 17_supplement_2 (2023).
10.1212/WNL.0000000000202194
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A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder (journal article)
Levy, Rebecca J. | Timothy, Katherine W. | Underwood, Jack F.G. | Hall, Jeremy | Bernstein, Jonathan A. | Pașca, Sergiu P.
Pediatric Neurology, volume 138 (2023).
10.1016/j.pediatrneurol.2022.10.013
Cited by (3) | Cite | Source
Discovering monogenic patients with a confirmed molecular diagnosis in millions of clinical notes with MonoMiner (journal article)
Wu, David Wei | Bernstein, Jonathan A. | Bejerano, Gill
Genetics in Medicine, volume 24, issue 10, pages 2091-2102 (2022).
10.1016/j.gim.2022.07.008
Cited by (1) | Cite | Source
Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease (journal article)
Young, Jennifer L. | Halley, Meghan C. | Anguiano, Beatriz | Fernandez, Liliana | Bernstein, Jonathan A. | Wheeler, Matthew T. | Tabor, Holly K.
Frontiers in Genetics, volume 13 (2022).
10.3389/fgene.2022.949422
Cited by (7) | Cite | Source
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome (journal article)
Brennan, Kevin | Zheng, Hong | Fahrner, Jill A | Shin, June Ho | Gentles, Andrew J | Schaefer, Bradley | Sunwoo, John B | Bernstein, Jonathan A | Gevaert, Olivier
Human Molecular Genetics, volume 31, issue 13, pages 2164-2184 (2022).
10.1093/hmg/ddac026
Cited by (10) | Cite | Source
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics (journal article)
Halley, Meghan C. | Young, Jennifer L. | Fernandez, Liliana | Kohler, Jennefer N. | Bernstein, Jonathan A. | Wheeler, Matthew T. | Tabor, Holly K.
American Journal of Medical Genetics Part A, volume 188, issue 4, pages 1088-1101 (2022).
10.1002/ajmg.a.62619
Cited by (24) | Cite | Source
TOWARDS TRANSCRIPTOMICS AS A PRIMARY TOOL FOR RARE DISEASE INVESTIGATION (journal article)
Montgomery, Stephen B | Bernstein, Jonathan A | Wheeler, Matthew T
Molecular Case Studies (2022).
10.1101/mcs.a006198
Cited by (8) | Cite | Source
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium (journal article)
Levy, Tess | Foss-Feig, Jennifer H | Betancur, Catalina | Siper, Paige M | Trelles-Thorne, Maria del Pilar | Halpern, Danielle | Frank, Yitzchak | Lozano, Reymundo | Layton, Christina | Britvan, Bari | ... | Kolevzon, Alexander
Human Molecular Genetics, volume 31, issue 4, pages 625-637 (2022).
10.1093/hmg/ddab280
Cited by (31) | Cite | Source
Variable clinical severity in TANGO2 deficiency: Case series and literature review (journal article)
Schymick, Jennifer | Leahy, Peter | Cowan, Tina | Ruzhnikov, Maura R. Z. | Gates, Ryan | Fernandez, Liliana | Pramanik, Gopal | Yarlagadda, Vamsi | Wheeler, Matthew | Bernstein, Jonathan A. | ... | Lee, Chung
American Journal of Medical Genetics Part A, volume 188, issue 2, pages 473-487 (2022).
10.1002/ajmg.a.62543
Cited by (18) | Cite | Source
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome (journal article)
Srivastava, Siddharth | Condy, Emma | Carmody, Erin | Filip-Dhima, Rajna | Kapur, Kush | Bernstein, Jonathan A. | Berry-Kravis, Elizabeth | Powell, Craig M. | Soorya, Latha | Thurm, Audrey | ... | Phillips, Jennifer M.
Journal of Neurodevelopmental Disorders, volume 13, issue 1 (2021).
10.1186/s11689-021-09398-7
Cited by (5) | Cite | Source
“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey (journal article)
Deuitch, Natalie T. | Beckman, Erika | Halley, Meghan C. | Young, Jennifer L. | Reuter, Chloe M. | Kohler, Jennefer | Bernstein, Jonathan A. | Wheeler, Matthew T. | Ormond, Kelly E. | Tabor, Holly K.
Journal of Genetic Counseling, volume 30, issue 6, pages 1707-1718 (2021).
10.1002/jgc4.1438
Cited by (9) | Cite | Source
InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors (journal article)
Yoo, Boyoung | Birgmeier, Johannes | Bernstein, Jonathan A. | Bejerano, Gill
Genetics in Medicine, volume 23, issue 10, pages 1984-1992 (2021).
10.1038/s41436-021-01238-2
Cited by (1) | Cite | Source
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity (journal article)
Besterman, Aaron D. | Althoff, Thorsten | Elfferich, Peter | Gutierrez-Mejia, Irma | Sadik, Joshua | Bernstein, Jonathan A. | van Ierland, Yvette | Kattentidt-Mouravieva, Anja A. | Nellist, Mark | Abramson, Jeff | Martinez-Agosto, Julian A.
PLOS Genetics, volume 17, issue 7, pages e1009651- (2021).
10.1371/journal.pgen.1009651
Cited by (9) | Cite | Source
“It seems like COVID-19 now is the only disease present on Earth”: living with a rare or undiagnosed disease during the COVID-19 pandemic (journal article)
Halley, Meghan C. | Stanley, Talia | Maturi, Jay | Goldenberg, Aaron J. | Bernstein, Jonathan A. | Wheeler, Matthew T. | Tabor, Holly K.
Genetics in Medicine, volume 23, issue 5, pages 837-844 (2021).
10.1038/s41436-020-01069-7
Cited by (18) | Cite | Source
The yield of thorough record review in the Undiagnosed Diseases Network (journal article)
Findley, Laurie | Rosenfeld, Jill | Spillman, Rebecca | Cope, Heidi | Schoch, Kelly | Briere, Lauren | Bernstein, Jonathan | Hom, Jason | Ruzhnikov, Maura | Kravets, Elijah | ... | Butte, Manish
Molecular Genetics and Metabolism, volume 132 (2021).
10.1016/S1096-7192(21)00378-4
Cite | Source
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay (journal article)
Melo, Uirá Souto | Bonner, Devon | Kent Lloyd, Kevin C. | Moshiri, Ala | Willis, Brandon | Lanoue, Louise | Bower, Lynette | Leonard, Brian C. | Martins, Davi Jardim | Gomes, Fernando | ... | Byers, Heather M.
Genetics in Medicine, volume 23, issue 4, pages 661-668 (2021).
10.1038/s41436-020-01047-z
Cited by (2) | Cite | Source
Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons (journal article)
Zhang, Siming | Zhang, Xianglong | Purmann, Carolin | Ma, Shining | Shrestha, Anima | Davis, Kasey N. | Ho, Marcus | Huang, Yiling | Pattni, Reenal | Wong, Wing Hung | ... | Urban, Alexander E.
Biological Psychiatry, volume 89, issue 5, pages 497-509 (2021).
10.1016/j.biopsych.2020.06.021
Cited by (13) | Cite | Source