Jon Bernstein

Assistant Professor of Pediatrics (Genetics) at the Lucile Salter Packard Children's Hospital

Professional Education

Fellowship: Lucile Packard Children's Hospital (2008) CA

Board Certification: Clinical Genetics, American Board of Medical Genetics (2009)

Residency: Lucile Packard Children's Hospital (2006) CA

PhD, Stanford University, Genetics (2003)

Medical Education: Stanford School of Medicine (2003) CA

Administrative Appointments

Director, Stanford Medical Genetics Residency Program (2013 - Present)

Associate Director, Medical Genetics Residency Program (2008 - 2013)

Clinical interpretation and implications of whole-genome sequencing.
Dewey, F. E., Grove, M. E., Pan, C., Goldstein, B. A., Bernstein, J. A., & Quertermous, T. (2014). Clinical interpretation and implications of whole-genome sequencing. JAMA-the journal of the American Medical Association, 311(10), 1035-1045.

Clinical whole-exome sequencing: are we there yet?
Atwal, P. S., Brennan, M. L., Cox, R., Niaki, M., Platt, J., & Hudgins, L. (2014). Clinical whole-exome sequencing: are we there yet?. Genetics in medicine : official journal of the American College of Medical Genetics.

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome.
Myers, A., Bernstein, J. A., Brennan, M. L., Curry, C., Esplin, E. D., & Hudgins, L. (2014). Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. American journal of medical genetics. Part A.

Inappropriate p53 activation during development induces features of CHARGE syndrome.
Van Nostrand, J. L., Brady, C. A., Jung, H., Fuentes, D. R., Kozak, M. M., & Attardi, L. D. (2014). Inappropriate p53 activation during development induces features of CHARGE syndrome. Nature.

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., & Goldstein, D. B. (2014). Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in medicine : official journal of the American College of Medical Genetics.

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
Shcheglovitov, A., Shcheglovitova, O., Yazawa, M., Portmann, T., Shu, R., & Dolmetsch, R. E. (2013). SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature, 503(7475), 267-271.

ß-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.
Moore, T., Bernstein, J. A., Casson-Parkin, S., & Cowan, T. M. (2013). ß-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype. JIMD reports, 7, 77-79.

Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation
Vande Wydeven, K., Kwan, A., Hardan, A. Y., & Bernstein, J. A. (2012). Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation. JOURNAL OF GENETIC COUNSELING, 21(6), 803-813.

Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis
Gribouval, O., Moriniere, V., Pawtowski, A., Arrondel, C., Sallinen, S.-L., & Gubler, M. C. (2012). Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis. HUMAN MUTATION, 33(2), 316-326.

Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5 ' Splice Site Mutation (1084+1G > A): Case Report
Traynis, I., Bernstein, J. A., Gardner, P., & Schrijver, I. (2012). Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5 ' Splice Site Mutation (1084+1G > A): Case Report. CLEFT PALATE-CRANIOFACIAL JOURNAL, 49(1), 104-108.

Rapid Implementation of Inpatient Electronic Physician Documentation at an Academic Hospital
Hahn, J. S., Bernstein, J. A., MCKENZIE, R. B., King, B. J., & Longhurst, C. A. (2012). Rapid Implementation of Inpatient Electronic Physician Documentation at an Academic Hospital. APPLIED CLINICAL INFORMATICS, 3(2), 175-185.

Newborn with prenatally diagnosed choroidal fissure cyst and panhypopituitarism and review of the literature.
Chitkara, R., Rajani, A., Bernstein, J., Shah, S., Hahn, J. S., & Hintz, S. R. (2011). Newborn with prenatally diagnosed choroidal fissure cyst and panhypopituitarism and review of the literature. AJP reports, 1(2), 111-114.

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome
Pasca, S. P., Portmann, T., Voineagu, I., Yazawa, M., Shcheglovitov, A., & Dolmetsch, R. E. (2011). Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. NATURE MEDICINE, 17(12), 1657-U176.

Ectopia Lentis as the Presenting and Primary Feature in Marfan Syndrome
Zadeh, N., Bernstein, J. A., Niemi, A. K., Dugan, S., Kwan, A., & Manning, M. A. (2011). Ectopia Lentis as the Presenting and Primary Feature in Marfan Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(11), 2661-2668.

Horseshoe Kidney and a Rare TSC2 Variant in Two Unrelated Individuals With Tuberous Sclerosis Complex
Niemi, A.-K., Northrup, H., Hudgins, L., & Bernstein, J. A. (2011). Horseshoe Kidney and a Rare TSC2 Variant in Two Unrelated Individuals With Tuberous Sclerosis Complex. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(10), 2534-2537.

Familial Cardiac Valvulopathy Due to Filamin A Mutation
Bernstein, J. A., Bernstein, D., Hehr, U., & Hudgins, L. (2011). Familial Cardiac Valvulopathy Due to Filamin A Mutation. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(9), 2236-2241.

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome
Yazawa, M., Hsueh, B., Jia, X., Pasca, A. M., Bernstein, J. A., & Dolmetsch, R. E. (2011). Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. NATURE, 471(7337), 230-U120.

Clues to an Early Diagnosis of Kallmann Syndrome
Kaplan, J. D., Bernstein, J. A., Kwan, A., & Hudgins, L. (2010). Clues to an Early Diagnosis of Kallmann Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(11), 2796-2801.

Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry
Tortorelli, S., Turgeon, C. T., Lim, J. S., Baumgart, S., Day-Salvatore, D.-L., & Gavrilov, D. K. (2010). Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry. JOURNAL OF PEDIATRICS, 157(2), 271-275.

Index of suspicion.
Zadeh, N., Bernstein, J. A., Stiasny, D., Callaghan, M. U., Flores, C. E., & Moore, J. (2010). Index of suspicion. Pediatrics in review , 31(4), 167-172.

Improved physician work flow after integrating sign-out notes into the electronic medical record.
Bernstein, J. A., Imler, D. L., Sharek, P., & Longhurst, C. A. (2010). Improved physician work flow after integrating sign-out notes into the electronic medical record. Joint Commission journal on quality and patient safety / Joint Commission Resources, 36(2), 72-78.

Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism
Miousse, I. R., Watkins, D., Coelho, D., Rupar, T., Crombez, E. A., & Rosenblatt, D. S. (2009). Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism. JOURNAL OF PEDIATRICS, 154(4), 551-556.

GENOMIC ANALYSIS OF MRNA DECAY IN E. COLI WITH DNA MICROARRAYS
Lin, P.-H., Singh, D., Bernstein, J. A., & Lin-Chao, S. (2008). GENOMIC ANALYSIS OF MRNA DECAY IN E. COLI WITH DNA MICROARRAYS. RNA TURNOVER IN BACTERIA, ARCHAEA AND ORGANELLES, 447, 47-?.

Global analysis of Escherichia coli RNA degradosome function using DNA microarrays
Bernstein, J. A., Lin, P. H., Cohen, S. N., & Lin-Chao, S. (2004). Global analysis of Escherichia coli RNA degradosome function using DNA microarrays. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 101(9), 2758-2763.

Life after transcription - revisiting the fate of messenger RNA
Khodursky, A. B., & Bernstein, J. A. (2003). Life after transcription - revisiting the fate of messenger RNA. TRENDS IN GENETICS, 19(3), 113-115.

Escherichia coli spotted double-strand DNA microarrays: RNA extraction, labeling, hybridization, quality control, and data management.
Khodursky, A. B., Bernstein, J. A., Peter, B. J., Rhodius, V., Wendisch, V. F., & Zimmer, D. P. (2003). Escherichia coli spotted double-strand DNA microarrays: RNA extraction, labeling, hybridization, quality control, and data management. Methods in molecular biology (Clifton, N.J.), 224, 61-78.

Global analysis of mRNA decay and abundance in Escherichia coli at single-gene resolution using two-color fluorescent DNA microarrays
Bernstein, J. A., Khodursky, A. B., Lin, P. H., Lin-Chao, S., & Cohen, S. N. (2002). 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 OF THE UNITED STATES OF AMERICA, 99(15), 9697-9702.

RNase G complementation of me null mutation identifies functional interrelationships with RNase E in Escherichia coli
Lee, K., Bernstein, J. A., & Cohen, S. N. (2002). RNase G complementation of me null mutation identifies functional interrelationships with RNase E in Escherichia coli. MOLECULAR MICROBIOLOGY, 43(6), 1445-1456.

Use of traditional medicine in Mongolia: a survey
Bernstein, J. A., Stibich, M. A., & LeBaron, S. (2002). Use of traditional medicine in Mongolia: a survey. COMPLEMENTARY THERAPIES IN MEDICINE, 10(1), 42-45.