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Author Details

Jonathan A Bernstein
Stanford University
2000
137
40
PMIDPaper TitleJournal TitlePublished Year
36481303A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.Genet Med2023
37354293Chronic Spontaneous Urticaria: How to Measure It and the Need to Define Treatment Success.Dermatol Ther (Heidelb)2023
37220812Disease Spectrum of Anaphylaxis Disorders.J Allergy Clin Immunol Pract2023
37392087Updated consensus guidelines on the management of Phelan-McDermid syndrome.Am J Med Genet A2023
37088368Comparative Safety Profiles of Individual Second-Generation H1-Antihistamines for the Treatment of Chronic Urticaria: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.J Allergy Clin Immunol Pract2023
36436328A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder.Pediatr Neurol2023
36800428Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.Sci Adv2023
34668327Variable clinical severity in TANGO2 deficiency: Case series and literature review.Am J Med Genet A2022
35347328Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.Nat Biotechnol2022
36072659Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.Front Genet2022
36276299Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.HGG Adv2022
36368327TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.Am J Hum Genet2022
35965047Asthma-Chronic Obstructive Pulmonary Disease Overlap: The Role for Allergy.Immunol Allergy Clin North Am2022
36112693DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.Sci Immunol2022
35976265Discovering monogenic patients with a confirmed molecular diagnosis in millions of clinical notes with MonoMiner.Genet Med2022
35133172Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock.Circ Genom Precis Med2022
34981646Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.Am J Med Genet A2022
35217565Toward transcriptomics as a primary tool for rare disease investigation.Cold Spring Harb Mol Case Stud2022
35094088NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.Hum Mol Genet2022
35051358Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.Am J Hum Genet2022
35020984Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.N Engl J Med2022
34559195Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.Hum Mol Genet2022
32919612Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.Biol Psychiatry2021
33771552Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.J Allergy Clin Immunol2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
34740315Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.J Neurodev Disord2021
34096130"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.J Genet Couns2021
33980332Mast cell activation syndrome: Myths and realities.Allergy Asthma Proc2021
34197453Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.PLoS Genet2021
34230641InpherNet accelerates monogenic disease diagnosis using patients' candidate genes' neighbors.Genet Med2021
33189025Combined 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.Pediatr Neurol2021
33420346Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.Genet Med2021
33420343"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.Genet Med2021
31467448AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.Genet Med2020
31723249De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.Genet Med2020
32107139Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.Pediatr Neurol2020
31820119Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.Acta Neuropathol2020
32989314Neuronal defects in a human cellular model of 22q11.2 deletion syndrome.Nat Med2020
32699352Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.Genet Med2020
32434849AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.Sci Transl Med2020
32406614Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.Autism Res2020
30514889ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.Genet Med2019
29997393Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.Genet Med2019
31439813Genomics in medicine: a novel elective rotation for internal medicine residents.Postgrad Med J2019
31216405Reanalysis of Clinical Exome Sequencing Data.N Engl J Med2019
31478310Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns2019
30920161Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.Am J Med Genet A2019
30804562S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing.Nat Genet2019
30706981Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.J Genet Couns2019
30964584A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.J Genet Couns2019
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Collaborators

Gregory M Enns
Lucile Packard Children's Hospital and Stanford University
Co-authored papers 15
Jennefer N Kohler
Stanford Center for Undiagnosed Diseases
Co-authored papers 14
Euan A Ashley
Stanford University
Co-authored papers 13
Matthew T Wheeler
Stanford University School of Medicine
Co-authored papers 13
Yaping Yang
Baylor College of Medicine
Co-authored papers 9
Joachim Hallmayer
Stanford University School of Medicine
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Megan E Grove
Stanford Medicine Clinical Genomics Program
Co-authored papers 8
Aaron M Wenger
Stanford School of Medicine
Co-authored papers 8
Ghayda M Mirzaa
Seattle Children's Hospital.
Co-authored papers 7
Paul G Fisher
Stanford University
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Annika M Dries
Center for Inherited Cardiovascular Disease, Stanford University School of Medicine
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Liliana Fernandez
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Alexander Kolevzon
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Icahn School of Medicine at Mount Sinai
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Dianna G Fisk
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Michael Snyder
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Tina M Cowan
Clinical Biochemical Genetics Laboratory
Co-authored papers 6
Mustafa Sahin
Harvard Medical School
Co-authored papers 6
Susan Schelley
Stanford University
Co-authored papers 6
Kelly Schoch
Duke University School of Medicine
Co-authored papers 5
Weimin Bi
Co-authored papers 4
James R Lupski
Baylor College of Medicine
Co-authored papers 4
Peter D Stenson
Co-authored papers 4
Kelly E Ormond
Stanford University School of Medicine
Co-authored papers 4
Richard A Gibbs
Baylor College of Medicine
Co-authored papers 4
William B Dobyns
University of Minnesota
Co-authored papers 4
Holly K Tabor
Stanford Center for Biomedical Ethics (SCBE), Stanford University
Co-authored papers 4
Pengfei Liu
Co-authored papers 4
Release 1.2