# 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](tel:+16507236858)

Fax: (650) 498-4555

## Locations

[Mary L. Johnson Specialty Services](/content/en/location/730-welch-road.html)

Medical Genetics

730 Welch Road

Palo Alto, CA 94304

Phone : [(650) 723-6858](tel:(650)%20723-6858)

Fax : (650) 498-4555

## Services

- [Cleft and Craniofacial Center](/content/en/services/cleft-and-craniofacial-center.html)
- [Genetics Services](/content/en/services/genetics.html)
- [Microtia and Ear Canal Atresia](/content/en/services/microtia.html)

## 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

1. 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_
   - [DOI 10.1136/jmg-2025-111432](https://doi.org/10.1136/jmg-2025-111432)
   - [PubMedID 42586785](https://www.ncbi.nlm.nih.gov/pubmed/42586785)

2. Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome. _Neurology. Genetics_
   - [DOI 10.1212/NXG.0000000000200385](https://doi.org/10.1212/NXG.0000000000200385)
   - [PubMedID 42290677](https://www.ncbi.nlm.nih.gov/pubmed/42290677)
   - [PubMedCentralID PMC13262668](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13262668)

3. "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_
   - [DOI 10.1016/j.gim.2026.102663](https://doi.org/10.1016/j.gim.2026.102663)
   - [PubMedID 42439107](https://www.ncbi.nlm.nih.gov/pubmed/42439107)

4. Autonomous biomedical research with an artificial intelligence agent. _Science (New York, N.Y.)_
   - [DOI 10.1126/science.adz4351](https://doi.org/10.1126/science.adz4351)
   - [PubMedID 42424436](https://www.ncbi.nlm.nih.gov/pubmed/42424436)

5. RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort. _Genetics in medicine : official journal of the American College of Medical Genetics_
   - [DOI 10.1016/j.gim.2026.102633](https://doi.org/10.1016/j.gim.2026.102633)
   - [PubMedID 42322193](https://www.ncbi.nlm.nih.gov/pubmed/42322193)
  
6. Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing. _Genome biology_
   - [DOI 10.1186/s13059-026-04137-4](https://doi.org/10.1186/s13059-026-04137-4)
   - [PubMedID 42298673](https://www.ncbi.nlm.nih.gov/pubmed/42298673)
   - [PubMedCentralID 7006217](https://www.ncbi.nlm.nih.gov/pmc/articles/7006217)

7. Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance. _American journal of medical genetics. Part C, Seminars in medical genetics_
   - [DOI 10.1002/ajmg.c.70011](https://doi.org/10.1002/ajmg.c.70011)
   - [PubMedID 42267964](https://www.ncbi.nlm.nih.gov/pubmed/42267964)

8. De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling. _American journal of medical genetics. Part A_
   - [DOI 10.1002/ajmg.a.70162](https://doi.org/10.1002/ajmg.a.70162)
   - [PubMedID 42002855](https://www.ncbi.nlm.nih.gov/pubmed/42002855)

9. Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. _Nature genetics_
   - [DOI 10.1038/s41588-026-02554-6](https://doi.org/10.1038/s41588-026-02554-6)
   - [PubMedID 41951959](https://www.ncbi.nlm.nih.gov/pubmed/41951959)
   - [PubMedCentralID 3119917](https://www.ncbi.nlm.nih.gov/pmc/articles/3119917)

10. Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder. _Nature genetics_
    - [DOI 10.1038/s41588-026-02539-5](https://doi.org/10.1038/s41588-026-02539-5)
    - [PubMedID 41912932](https://www.ncbi.nlm.nih.gov/pubmed/41912932)
    - [PubMedCentralID 8457000](https://www.ncbi.nlm.nih.gov/pmc/articles/8457000)