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![Jon Bernstein](/content/dam/SHC/doctors-medicalstaff/b/bernstein-jon-md.jpg/_jcr_content/renditions/original.transform/280x280-q76/image.jpg)
Professional Summary
Education & Certifications
- Medical Education: Stanford University School of Medicine Registrar (2003) CA
- Board Certification: Clinical Genetics, American Board of Medical Genetics and Genomics (2009)
- Board Certification: Pediatrics, American Board of Pediatrics (2006)
- Fellowship: Lucile Packard Children's Hospital (2008) CA
- Residency: Lucile Packard Children's Hospital (2006) CA
- PhD, Stanford University, Genetics (2003)
Administrative Appointments
- Associate Director, Medical Genetics Residency Program (2016 - Present)
- Director, Stanford Medical Genetics Residency Program (2013 - 2016)
Publications
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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), 1445–56. -
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. -
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. -
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. -
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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-? -
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. -
Index of suspicion.
Zadeh, N., Bernstein, J. A., Stiasny, D., Callaghan, M. U., Flores, C. E., Tytko, J. M., … Moore, J. (2010). Index of suspicion. Pediatrics in Review , 31(4), 167–172. -
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., Abdenur, J., … 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. -
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. -
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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. -
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. -
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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., Saloranta, C., … 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. -
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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. -
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SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
Shcheglovitov, A., Shcheglovitova, O., Yazawa, M., Portmann, T., Shu, R., Sebastiano, V., … Dolmetsch, R. E. (2013). SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature, 503(7475), 267–271. -
Clinical whole-exome sequencing: are we there yet?
Atwal, P. S., Brennan, M.-L., Cox, R., Niaki, M., Platt, J., Homeyer, M., … Hudgins, L. (2014). Clinical whole-exome sequencing: are we there yet? Genetics in Medicine , 16(9), 717–19. -
Clinical interpretation and implications of whole-genome sequencing.
Dewey, F. E., Grove, M. E., Pan, C., Goldstein, B. A., Bernstein, J. A., Chaib, H., … Quertermous, T. (2014). Clinical interpretation and implications of whole-genome sequencing. JAMA, 311(10), 1035–45. -
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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., Johnson, T. M., … Attardi, L. D. (2014). Inappropriate p53 activation during development induces features of CHARGE syndrome. Nature, 514(7521), 228–232. -
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Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.
Brennan, M.-L., Adam, M. P., Seaver, L. H., Myers, A., Schelley, S., Zadeh, N., … Bernstein, J. A. (2015). Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects. American Journal of Medical Genetics. Part A, 167A(1), 142–146. -
Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy.
Khouzam, A., Kwan, A., Baxter, S., & Bernstein, J. A. (2015). Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy. Journal of Genetic Counseling, 24(5), 797–809. -
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
Ji, J., Lee, H., Argiropoulos, B., Dorrani, N., Mann, J., Martinez-Agosto, J. A., … Quintero-Rivera, F. (2015). DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. EUROPEAN JOURNAL OF HUMAN GENETICS, 23(11), 1473–81. -
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.
Avila, M., Dyment, D. A., Sagen, J. V., St-Onge, J., Moog, U., Chung, B. H., … Thauvin-Robinet, C. (2015). Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. Clinical Genetics. -
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.
Leipold, E., Hanson-Kahn, A., Frick, M., Gong, P., Bernstein, J. A., Voigt, M., … Kurth, I. (2015). Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant. Nature Communications, 6, 10049-? -
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Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
Atwal, P. S., Blease, S., Braxton, A., Graves, J., He, W., Person, R., … Hudgins, L. (2016). Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. American Journal of Medical Genetics. Part A, 170(4), 891–895. -
Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.
Gomez-Ospina, N., & Bernstein, J. A. (2016). Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies. American Journal of Medical Genetics. Part A, 170(4), 870–880. -
Clinical Delineation of the PACS1-Related Syndrome-Report on 19 Patients
Schuurs-Hoeijmakers, J. H. M., Landsverk, M. L., Foulds, N., Kukolich, M. K., Gavrilova, R. H., Greville-Heygate, S., … Brunner, H. G. (2016). Clinical Delineation of the PACS1-Related Syndrome-Report on 19 Patients. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 170(3), 670–675. -
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
Macmurdo, C. F., Wooderchak-Donahue, W., Bayrak-Toydemir, P., Le, J., Wallenstein, M. B., Milla, C., … Stevenson, D. A. (2016). RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. American Journal of Medical Genetics. Part A, 170(6), 1450–54. -
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder
Ananth, A. L., Robichaux-Viehoever, A., Kim, Y.-M., Hanson-Kahn, A., Cox, R., Enns, G. M., … Bernstein, J. A. (2016). Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. PEDIATRIC NEUROLOGY, 59, 81–84. -
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., … Goldstein, D. B. (2016). Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. AMERICAN JOURNAL OF HUMAN GENETICS, 98(5), 1001–1010. -
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
Mirzaa, G. M., Campbell, C. D., Solovieff, N., Goold, C. P., Jansen, L. A., Menon, S., … Dobyns, W. B. (2016). Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA NEUROLOGY, 73(7), 836–45. -
Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period.
Blumenfeld, Y. J., Davis, A. S., Hintz, S. R., Milan, K., Messner, A. H., Barth, R. A., … Manning, M. (2016). Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period. Journal of Ultrasound in Medicine , 35(6), 1353–58. -
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Krakow, D., Cohn, D. H., Wilcox, W. R., Noh, G. J., Raffel, L. J., Sarukhanov, A., … Lachman, R. S. (2016). Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges. American Journal of Medical Genetics. Part A, 170(10), 2652–2661. -
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Wenger, A. M., Guturu, H., Bernstein, J. A., & Bejerano, G. (2016). Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genetics in Medicine . -
A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.
Sun, Y., Pasca, S. P., Portmann, T., Goold, C., Worringer, K. A., Guan, W., … Dolmetsch, R. E. (2016). A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients. ELife, 5. -
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Weiss, K., Terhal, P. A., Cohen, L., Bruccoleri, M., Irving, M., Martinez, A. F., … Muenke, M. (2016). De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. AMERICAN JOURNAL OF HUMAN GENETICS, 99(4), 934–941. -
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Balasubramanian, M., Lord, H., Levesque, S., Guturu, H., Thuriot, F., Sillon, G., … Chitayat, D. (2016). Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics. -
A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome.
Sureka, D., Stheneur, C., Odent, S., Arno, G., Murphy, D., & Bernstein, J. A. (2014). A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome. Journal of Pediatric Genetics, 3(3), 157–162. -
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.
Jagadeesh, K. A., Wenger, A. M., Berger, M. J., Guturu, H., Stenson, P. D., Cooper, D. N., … Bejerano, G. (2016). M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nature Genetics. -
Tumor-induced Osteomalacia in a 3-Year-Old With Unresectable Central Giant Cell Lesions.
Crossen, S. S., Zambrano, E., Newman, B., Bernstein, J. A., Messner, A. H., Bachrach, L. K., & Twist, C. J. (2016). Tumor-induced Osteomalacia in a 3-Year-Old With Unresectable Central Giant Cell Lesions. Journal of Pediatric Hematology/Oncology, -? -
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., … Talkowski, M. E. (2017). The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature Genetics, 49(1), 36–45. -
in a patient with a complex connective tissue phenotype.
Zastrow, D. B., Zornio, P. A., Dries, A., Kohler, J., Fernandez, L., Waggott, D., … Wheeler, M. T. (2017). in a patient with a complex connective tissue phenotype. Cold Spring Harbor Molecular Case Studies, 3(1). -
Association of AHSG with alopecia and mental retardation (APMR) syndrome.
Reza Sailani, M., Jahanbani, F., Nasiri, J., Behnam, M., Salehi, M., Sedghi, M., … Snyder, M. P. (2017). Association of AHSG with alopecia and mental retardation (APMR) syndrome. Human Genetics, 136(3), 287–96. -
De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease
Takahashi, S., Andreoletti, G., Chen, R., Munehira, Y., Batra, A., Afzal, N. A., … Snyder, M. (2017). De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. GENOME MEDICINE, 9. -
Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning
Bro, D., O'Hara, R., Primeau, M., Hanson-Kahn, A., Hallmayer, J., & Bernstein, J. A. (2017). Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning. SLEEP, 40(2). -
Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).
Reierson, G., Bernstein, J., Froehlich-Santino, W., Urban, A., Purmann, C., Berquist, S., … Hallmayer, J. (2017). Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome). Journal of Psychiatric Research, 91, 139–44. -
Assembly of functionally integrated human forebrain spheroids
Birey, F., Andersen, J., Makinson, C. D., Islam, S., Wei, W., Huber, N., … Pasca, S. P. (2017). Assembly of functionally integrated human forebrain spheroids. NATURE, 545(7652), 54-? -
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Ramoni, R. B., Mulvihill, J. J., Adams, D. R., Allard, P., Ashley, E. A., Bernstein, J. A., … Wise, A. L. (2017). The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. AMERICAN JOURNAL OF HUMAN GENETICS, 100(2), 185–92. -
Isolated Congenital Anosmia and CNGA2 Mutation.
Sailani, M. R., Jingga, I., MirMazlomi, S. H., Bitarafan, F., Bernstein, J. A., Snyder, M. P., & Garshasbi, M. (2017). Isolated Congenital Anosmia and CNGA2 Mutation. Scientific Reports, 7(1), 2667-? -
Identification of a novel mutation in APTX gene associated with Ataxia-oculomotor apraxia.
Inlora, J., Sailani, M. R., Khodadadi, H., Teymurinezhad, A., Takahashi, S., Bernstein, J. A., … Snyder, M. P. (2017). Identification of a novel mutation in APTX gene associated with Ataxia-oculomotor apraxia. Cold Spring Harbor Molecular Case Studies. -
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Leduc, M. S., Chao, H.-T. T., Qu, C., Walkiewicz, M., Xiao, R., Magoulas, P., … Yang, Y. (2017). Clinical and molecular characterization of de novo loss of function variants in HNRNPU. American Journal of Medical Genetics. Part A. -
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Chen, L., Jensik, P. J., Alaimo, J. T., Walkiewicz, M., Berger, S., Roeder, E., … Elsea, S. H. (2017). Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Human Mutation. -
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Stankiewicz, P., Khan, T. N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., … Yang, Y. (2017). Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American Journal of Human Genetics. -
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara, D., Timms, A. E., Gripp, K., Baker, L., Park, K., Collins, S., … Mirzaa, G. M. (2017). Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain : a Journal of Neurology, 140(10), 2610–22. -
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Le Tourneau, T., Le Scouarnec, S., Cueff, C., Bernstein, D., Aalberts, J. J., Lecointe, S., … Schott, J.-J. J. (2017). New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study. European Heart Journal. -
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., … Mercier, S. (2017). De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. American Journal of Human Genetics, 101(5), 768–88. -
WISP3 mutation associated with Pseudorheumatoid Dysplasia.
Sailani, M. R., Chappell, J., Inlora, J., Lynch, L., Narasimha, A., Mazroui, S., … Snyder, M. P. (2017). WISP3 mutation associated with Pseudorheumatoid Dysplasia. Cold Spring Harbor Molecular Case Studies. -
Teaching Biochemistry and Genetics to Students of Dentistry, Medicine, and Pharmacy 6th International Conference of the Association of Biochemistry Educators (ABE) Clearwater Beach, FL, USA, May 7-11, 2017.
Niederhoffer, E. C., Cline, S. D., Osheroff, N., Simmons, J. M., Diekman, A. B., Franklin, D. S., … Dasgupta, S. (2017). Teaching Biochemistry and Genetics to Students of Dentistry, Medicine, and Pharmacy 6th International Conference of the Association of Biochemistry Educators (ABE) Clearwater Beach, FL, USA, May 7-11, 2017. Medical Science Educator, 27(4), 855–59. -
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
Reuter, C. M., Brimble, E., DeFilippo, C., Dries, A. M., Enns, G. M., Ashley, E. A., … Wheeler, M. T. (2018). A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network. The Journal of Pediatrics. -
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., Balci, T. B., … Scott, D. A. (2018). Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human Mutation. -
Prenatal treatment of ornithine transcarbamylase deficiency.
Wilnai, Y., Blumenfeld, Y. J., Cusmano, K., Hintz, S. R., Alcorn, D., Benitz, W. E., … Enns, G. M. (2018). Prenatal treatment of ornithine transcarbamylase deficiency. Molecular Genetics and Metabolism. -
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Olahova, M., Yoon, W. H., Thompson, K., Jangam, S., Fernandez, L., Davidson, J. M., … Wheeler, M. T. (2018). Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. AMERICAN JOURNAL OF HUMAN GENETICS, 102(3), 494–504. -
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita, M. J., Chen, C.-A. A., Chitayat, D., Macnamara, E., Rosenfeld, J. A., Hanchard, N., … Wang, X. (2018). De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. American Journal of Human Genetics. -
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Change in Prevalence of Orofacial Clefts in California between 1987 and 2010.
Andrew, T., Yang, W., Bernstein, J. A., & Shaw, G. M. (2018). Change in Prevalence of Orofacial Clefts in California between 1987 and 2010. American Journal of Medical Genetics. Part A. -
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., … Ashley, E. A. (2018). Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. The New England Journal of Medicine. -
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Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
Srivastava, S., Scherrer, B., Prohl, A. K., Filip-Dhima, R., Kapur, K., Kolevzon, A., … Sahin, M. (2018). Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatric Neurology. -
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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Deisseroth, C. A., Birgmeier, J., Bodle, E. E., Kohler, J. N., Matalon, D. R., Nazarenko, Y., … Bejerano, G. (2018). ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
Grove, M. E., White, S., Fisk, D. G., Rego, S., Dagan-Rosenfeld, O., Kohler, J. N., … Hanson-Kahn, A. K. (2019). Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students. Journal of Genetic Counseling. -
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A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis.
Hom, J., Marwaha, S., Postolova, A., Kittle, J., Vasquez, R., Davidson, J., … Wheeler, M. (2019). A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis. Journal of General Internal Medicine. -
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Kumar, A., Zastrow, D. B., Kravets, E. J., Beleford, D., Ruzhnikov, M. R., Grove, M. E., … Bernstein, J. A. (2019). Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. American Journal of Medical Genetics. Part A. -
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Zastrow, D. B., Kohler, J. N., Bonner, D., Reuter, C. M., Fernandez, L., Grove, M. E., … Wheeler, M. T. (2019). A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. Journal of Genetic Counseling, 28(2), 213–28. -
Mutation update for the SATB2 gene.
Zarate, Y. A., Bosanko, K. A., Caffrey, A. R., Bernstein, J. A., Martin, D. M., Williams, M. S., … Fish, J. L. (2019). Mutation update for the SATB2 gene. Human Mutation. -
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard, L., Smail, C., Ferraro, N. M., Teran, N. A., Li, X., Smith, K. S., … Montgomery, S. B. (2019). Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nature Medicine. -
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Genomics in medicine: a novel elective rotation for internal medicine residents.
Geng, L. N., Kohler, J. N., Levonian, P., Bernstein, J. A., Ford, J. M., Ahuja, N., … Wheeler, M. (2019). Genomics in medicine: a novel elective rotation for internal medicine residents. Postgraduate Medical Journal.
Clinical Trials
Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. As a Stanford Health Care patient, you may have access to the latest, advanced clinical trials.
Open trials refer to studies currently accepting participants. Closed trials are not currently enrolling, but may open in the future.
Practice Locations
730 Welch Rd 2A Palo Alto, CA
Palo Alto, CAReferring Physicians
PHYSICIAN HELPLINE
Phone: 1-866-742-4811
Fax: 650-320-9443
Monday–Friday, 8 a.m.–5 p.m.
Fax: 650-320-9443
Monday–Friday, 8 a.m.–5 p.m.
Stanford Health Care provides comprehensive services to refer and track patients, as well as the latest information and news for physicians and office staff. For help with all referral needs and questions, visit Referral Information.
You may also submit a web referral or complete a referral form and fax it to 650-320-9443 or email the Referral Center at ReferralCenter@stanfordhealthcare.org.
- Send referrals online
- Place radiology orders
- View referral status
- Access medical records