Jonathan A Bernstein - Stanford Medicine Children's Health
Jonathan Bernstein, MD, PhD
Division Chief, Medical Genetics | Professor
Clinical Genetics and Genomics
Mary L. Johnson Specialty Services
Medical Genetics
730 Welch Road
Palo Alto, CA 94304
Phone: (650) 723-6858
Fax: (650) 498-4555
Locations
Mary L. Johnson Specialty Services
Medical Genetics
730 Welch Road
Palo Alto, CA 94304
Phone : (650) 723-6858
Fax : (650) 498-4555
Services
Conditions
- Autism
- Autism and Developmental Disorders
- Cardiovascular Genetic Issues
- Cleft Lip Cleft Palate
- Craniofacial Disorders and Craniosynostosis
- Development Delays and Disorders
Work and Education
Professional Education
Stanford University School of Medicine, Palo Alto, CA, 06/30/2003
Residency
Lucile Packard Children's Hospital, Palo Alto, CA, 06/30/2006
Fellowship
Lucile Packard Children's Hospital, Palo Alto, CA, 06/30/2008
Board Certifications
- Clinical Genetics and Genomics, American Board of Medical Genetics and Genomics, 2020
- Pediatrics, American Board of Pediatrics, 2006
Publications
BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities. Journal of medical genetics
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome. Neurology. Genetics
"It didn't feel like anything unusual because we had already been through so much": Disability-Related Research Experiences of Families with Children Enrolled in the Undiagnosed Diseases Network. Genetics in medicine : official journal of the American College of Medical Genetics
Autonomous biomedical research with an artificial intelligence agent. Science (New York, N.Y.)
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort. Genetics in medicine : official journal of the American College of Medical Genetics
Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing. Genome biology
Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance. American journal of medical genetics. Part C, Seminars in medical genetics
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling. American journal of medical genetics. Part A
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nature genetics
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder. Nature genetics