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Biography
Dr. Jacinda Sampson received her MD and a PhD in biochemistry from University of Alabama at Birmingham, and completed her neurology residency and neurogenetics fellowship at the University of Utah. She served at Columbia University Medical Center prior to joining Stanford University Medical Center in 2015. Her areas of interest include myotonic dystrophies, Duchenne muscular dystrophy, and neurogenetic disorders such as neurofibromatosis, hereditary spastic paraparesis, spinocerebellar ataxia, among others. She is interested in clinical trials for treatment of neurogenetic disorders, and in the clinical application of next-generation genomic sequencing to genetic testing.
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Professional Summary
Education & Certifications
- Fellowship: University of Utah School of Medicine (2006) UT
- Board Certification: American Board of Psychiatry and Neurology, Neurology (2005)
- Residency: University of Utah School of Medicine (2004) UT
- Internship: University of Utah School of Medicine (2001) UT
- Medical Education: University of Alabama at Birmingham (2000) AL
- Fellowship, University of Utah School of Medicine, Neurogenetics (2006)
- Residency, University of Utah School of Medicine, Neurology (2004)
- Internship, University of Utah School of Medicine, Internal Medicine (2001)
- PhD, University of Alabama, Biochemistry (1999)
- MD, University of Alabama School of Medicine, Medical Degree (2000)
Honors & Awards
- Stephen Q. Shafer Award for Humanism in Neurology, Columbia University Neurology Residents (2014)
Publications
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Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort
Flanigan, K. M., Dunn, D. M., von Niederhausern, A., Soltanzadeh, P., Gappmaier, E., Howard, M. T., … Weiss, R. B. (2009). Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort. HUMAN MUTATION, 30(12), 1657–1666. -
Human Dermal Fibroblasts Derived from Oculodentodigital Dysplasia Patients Suggest That Patients May Have Wound-Healing Defects
Churko, J. M., Shao, Q., Gong, X.-Q., Swoboda, K. J., Bai, D., Sampson, J., & Laird, D. W. (2011). Human Dermal Fibroblasts Derived from Oculodentodigital Dysplasia Patients Suggest That Patients May Have Wound-Healing Defects. HUMAN MUTATION, 32(4), 456–466. -
Nonsense Mutation-Associated Becker Muscular Dystrophy: Interplay Between Exon Definition and Splicing Regulatory Elements within the DMD Gene
Flanigan, K. M., Dunn, D. M., von Niederhausern, A., Soltanzadeh, P., Howard, M. T., Sampson, J. B., … Weiss, R. B. (2011). Nonsense Mutation-Associated Becker Muscular Dystrophy: Interplay Between Exon Definition and Splicing Regulatory Elements within the DMD Gene. HUMAN MUTATION, 32(3), 299–308. -
The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation
Churko, J. M., Kelly, J. J., Macdonald, A., Lee, J., Sampson, J., Bai, D., & Laird, D. W. (2012). The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation. EXPERIMENTAL DERMATOLOGY, 21(8), 612–618. -
ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY
Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G. P., … McDonald, C. M. (2014). ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY. MUSCLE & NERVE, 50(4), 477–487. -
Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS
Kariya, S., Sampson, J. B., Northrop, L. E., Lucarelli, C. M., Naini, A. B., Re, D. B., … Mitsumoto, H. (2014). Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS. AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 15(7-8), 581–587. -
Clinical and genetic characterization of manifesting carriers of DMD mutations
Soltanzadeh, P., Friez, M. J., Dunn, D., von Niederhausern, A., Gurvich, O. L., Swoboda, K. J., … Flanigan, K. M. (2010). Clinical and genetic characterization of manifesting carriers of DMD mutations. NEUROMUSCULAR DISORDERS, 20(8), 499–504. -
Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS
Zhang, F., Potocki, L., Sampson, J. B., Liu, P., Sanchez-Valle, A., Robbins-Furman, P., … Lupski, J. R. (2010). Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS. AMERICAN JOURNAL OF HUMAN GENETICS, 86(3), 462–470. -
Paraneoplastic myopathy: response to intravenous immunoglobulin
Sampson, J. B., Smith, S. M., Smith, A. G., Singleton, J. R., Chin, S., Pestronk, A., & Flanigan, K. M. (2007). Paraneoplastic myopathy: response to intravenous immunoglobulin. NEUROMUSCULAR DISORDERS, 17(5), 404–408. -
Inhibition of human surfactant protein a function by oxidation intermediates of nitrite
Davis, I. C., Zhu, S., Sampson, J. B., Crow, J. P., & Matalon, S. (2002). Inhibition of human surfactant protein a function by oxidation intermediates of nitrite. FREE RADICAL BIOLOGY AND MEDICINE, 33(12), 1703–1713. -
Liposome-delivered superoxide dismutase prevents nitric oxide-dependent motor neuron death induced by trophic factor withdrawal
Estevez, A. G., Sampson, J. B., Zhuang, Y. X., Spear, N., Richardson, G. J., Crow, J. P., … Beckman, J. S. (2000). Liposome-delivered superoxide dismutase prevents nitric oxide-dependent motor neuron death induced by trophic factor withdrawal. FREE RADICAL BIOLOGY AND MEDICINE, 28(3), 437–446. -
Myeloperoxidase and horseradish peroxidase catalyze tyrosine nitration in proteins from nitrite and hydrogen peroxide
Sampson, J. B., Ye, Y. Z., Rosen, H., & Beckman, J. S. (1998). Myeloperoxidase and horseradish peroxidase catalyze tyrosine nitration in proteins from nitrite and hydrogen peroxide. ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 356(2), 207–213. -
DIFFERENTIAL MODULATION OF ASTROCYTE CYTOKINE GENE-EXPRESSION BY TGF-BETA
Benveniste, E. N., Kwon, J. B., Chung, W. J., Sampson, J., Pandya, K., & Tang, L. P. (1994). DIFFERENTIAL MODULATION OF ASTROCYTE CYTOKINE GENE-EXPRESSION BY TGF-BETA. JOURNAL OF IMMUNOLOGY, 153(11), 5210–5221. -
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
Esseltine, J. L., Shao, Q., Huang, T., Kelly, J. J., Sampson, J., & Laird, D. W. (2015). Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients. Biochemical Journal, 472(1), 55–69. -
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
Kelly, J. J., Esseltine, J. L., Shao, Q., Jabs, E. W., Sampson, J., Auranen, M., … Laird, D. W. (2016). Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. Molecular Biology of the Cell, 27(14), 2172–85. -
A 31-Year-Old Man With a Ring-Enhancing Brain Lesion.
Riley, C. S., Roth, L. A., Sampson, J. B., Radhakrishnan, J., Herlitz, L. C., Blitz, A. M., & Moazami, G. (2017). A 31-Year-Old Man With a Ring-Enhancing Brain Lesion. Journal of Neuro-Ophthalmology . -
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
Xue, S., Maluenda, J., Marguet, F., Shboul, M., Quevarec, L., Bonnard, C., … Melki, J. (2017). Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. AMERICAN JOURNAL OF HUMAN GENETICS, 100(4), 659–65. -
Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1.
Cheung, J., Ruoff, C., Moore, H., Hagerman, K. A., Perez, J., Sakamuri, S., … Sampson, J. (2018). Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1. Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine, 14(2), 229–35. -
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., … Finkel, R. S. (2018). Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. NEW ENGLAND JOURNAL OF MEDICINE, 378(7), 625–35. -
Minimally Invasive Thymectomy and Lung Volume Reduction in a Patient with Myasthenia Gravis.
Salna, M., Kidambi, S., Sampson, J., & Shrager, J. B. (2018). Minimally Invasive Thymectomy and Lung Volume Reduction in a Patient with Myasthenia Gravis. The Annals of Thoracic Surgery. -
FGFR3 Antibodies in Neuropathy: What to Do With Them?
Samara, V., Sampson, J., & Muppidi, S. (2018). FGFR3 Antibodies in Neuropathy: What to Do With Them? Journal of Clinical Neuromuscular Disease, 20(1), 35–40. -
Modeling Cx43-linked pathologies in the human context
Esseltine, J. L., Shao, Q., Brooks, C., Sampson, J., Betts, D. H., & Seguin, C. (2015). Modeling Cx43-linked pathologies in the human context. MOLECULAR BIOLOGY OF THE CELL, 26. -
Basal Ganglia Gliosis in a Case of Rapid-Onset Dystonia-Parkinsonism (DYT12) with a Novel Mutation in ATPase 1A3 (ATP1A3)
Sampson, J. B., Michaeli, T. H., Wright, B. A., Goldman, J. E., Vonsattel, J.-P., & Fahn, S. (2016). Basal Ganglia Gliosis in a Case of Rapid-Onset Dystonia-Parkinsonism (DYT12) with a Novel Mutation in ATPase 1A3 (ATP1A3). MOVEMENT DISORDERS CLINICAL PRACTICE, 3(6), 618–20. -
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity
Khare, S., Galeano, K., Zhang, Y., Nick, J. A., Nick, H. S., Subramony, S. H., … Waters, M. F. (2018). C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity. CEREBELLUM, 17(5), 692–97. -
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. -
Experience using Spinraza to treat adults with spinal muscular atrophy
Day, J., Wolford, C., Macpherson, C., Hagerman, K., Paulose, S., Zeineh, M., … Duong, T. (2018). Experience using Spinraza to treat adults with spinal muscular atrophy. NEUROMUSCULAR DISORDERS, 28, S81. -
Nusinersen Efficacy in Adults with Spinal Muscular Atrophy
Day, J., Wolford, C., MacPherson, C., Martens, W., McDermott, M., Darras, B., … Duong, T. (2018). Nusinersen Efficacy in Adults with Spinal Muscular Atrophy. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS. -
FGFR3 Antibodies in Neuropathy. What to do with them?
Samara, V., Sampson, J., & Muppidi, S. (2018). FGFR3 Antibodies in Neuropathy. What to do with them? NEUROLOGY, 90. -
Consensus-based care recommendations for adults with myotonic dystrophy type 1
Ashizawa, T., Gagnon, C., Groh, W. J., Gutmann, L., Johnson, N. E., Meola, G., … Winblad, S. (2018). Consensus-based care recommendations for adults with myotonic dystrophy type 1. NEUROLOGY-CLINICAL PRACTICE, 8(6), 507–20. -
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. -
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. -
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.
Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., … Jarecki, J. (2018). Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. Journal of Neuromuscular Diseases, 5(2), 145–58. -
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. -
Basal Ganglia Gliosis in a Case of Rapid-Onset Dystonia-Parkinsonism (DYT12) with a Novel Mutation in ATPase 1A3 (ATP1A3).
Sampson, J. B., Michaeli, T. H., Wright, B. A., Goldman, J. E., Vonsattel, J.-P. P., & Fahn, S. (2016). Basal Ganglia Gliosis in a Case of Rapid-Onset Dystonia-Parkinsonism (DYT12) with a Novel Mutation in ATPase 1A3 (ATP1A3). Movement Disorders Clinical Practice, 3(6), 618–620. -
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., … Zheng, A. (2019). A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. JOURNAL OF GENETIC COUNSELING, 28(2), 213–28. -
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. NEW ENGLAND JOURNAL OF MEDICINE, 379(22), 2131–39. -
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, 28(2), 466–76. -
Minimally Invasive Thymectomy and Lung Volume Reduction in a Patient With Myasthenia Gravis
Salna, M., Kidambi, S., Sampson, J., & Shrager, J. B. (2018). Minimally Invasive Thymectomy and Lung Volume Reduction in a Patient With Myasthenia Gravis. ANNALS OF THORACIC SURGERY, 106(6), E313–E315. -
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. -
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. Z., Grove, M. E., … Zheng, A. (2019). Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179(6), 966–77. -
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, 34(6), 1058–62. -
Nusinersen Efficacy in Adults with Spinal Muscular Atrophy
Day, J., Wolford, C., MacPherson, C., Martens, W., McDermott, M., Darras, B., … Duong, T. (2019). Nusinersen Efficacy in Adults with Spinal Muscular Atrophy. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS. -
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy Through Newborn Screening
Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., … Jarecki, J. (2019). Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy Through Newborn Screening. NEUROLOGY, 92(15). -
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. -
Connexin43 is Dispensable for Early Stage Human Mesenchymal Stem Cell Adipogenic Differentiation But is Protective against Cell Senescence.
Shao, Q., Esseltine, J. L., Huang, T., Novielli-Kuntz, N., Ching, J. E., Sampson, J., & Laird, D. W. (2019). Connexin43 is Dispensable for Early Stage Human Mesenchymal Stem Cell Adipogenic Differentiation But is Protective against Cell Senescence. Biomolecules, 9(9). -
Multiomics Approach to Diagnosing Undiagnosed Patients
Wheeler, M. T., Kohler, J. N., Bonner, D. E., Zastrow, D. B., Reuter, C., Majcherska, M., … Bernstein, J. A. (2019). Multiomics Approach to Diagnosing Undiagnosed Patients. EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1163–64. -
Dynamic regulation of connexins in stem cell pluripotency.
Esseltine, J. L., Brooks, C. R., Edwards, N. A., Subasri, M., Sampson, J., Séguin, C., … Laird, D. W. (2019). Dynamic regulation of connexins in stem cell pluripotency. Stem Cells (Dayton, Ohio). -
Explaining RLS families using risk SNPs from GWAS
Tilch, E., Zhao, C., Salminen, A., Antic, A., Schormair, B., Oexle, K., … Winkelmann, J. (2019). Explaining RLS families using risk SNPs from GWAS. EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 658–59. -
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2.
Glascock, J., Sampson, J., Connolly, A. M., Darras, B. T., Day, J. W., Finkel, R., … Jarecki, J. (2020). Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. Journal of Neuromuscular Diseases. -
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kripps, K. A., Nakayuenyongsuk, W., Shayota, B. J., Berquist, W., Gomez-Ospina, N., Esquivel, C. O., … Larson, A. A. (2020). Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Molecular Genetics and Metabolism. -
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Mao, D., Reuter, C. M., Ruzhnikov, M. R., Beck, A. E., Farrow, E. G., Emrick, L. T., … Chao, H.-T. T. (2020). De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. American Journal of Human Genetics. -
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.
Campbell, C., Barohn, R. J., Bertini, E., Chabrol, B., Comi, G. P., Darras, B. T., … Muntoni, F. (2020). Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. Journal of Comparative Effectiveness Research. -
Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks.
Kamali, T., Hagerman, K. A., Day, J. W., Sampson, J., Lim, K. O., Mueller, B. A., & Wozniak, J. (2020). Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2020, 1714–17. -
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch, K., Esteves, C., Bican, A., Spillmann, R., Cope, H., McConkie-Rosell, A., … Shashi, V. (2020). Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
Increased EEG theta spectral power in polysomnography of myotonic dystrophy type 1 compared to matched controls.
Ruoff, C., Cheung, J., Perez, J., Sakamuri, S., Mignot, E., Day, J., & Sampson, J. (2017). Increased EEG theta spectral power in polysomnography of myotonic dystrophy type 1 compared to matched controls. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS. -
Transcriptome alterations in myotonic dystrophy frontal cortex.
Otero, B. A., Poukalov, K., Hildebrandt, R. P., Thornton, C. A., Jinnai, K., Fujimura, H., … Wang, E. T. (2021). Transcriptome alterations in myotonic dystrophy frontal cortex. Cell Reports, 34(3), 108634. -
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., … Kohane, I. S. (2021). Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks
Kamali, T., Hagerman, K. A., Day, J. W., Sampson, J., Lim, K. O., Mueller, B. A., & Wozniak, J. (2020). Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks. 42ND ANNUAL INTERNATIONAL CONFERENCES OF THE IEEE ENGINEERING IN MEDICINE AND BIOLOGY SOCIETY: ENABLING INNOVATIVE TECHNOLOGIES FOR GLOBAL HEALTHCARE EMBC'20. IEEE. -
Exome testing most useful for people with recessive CMT
Siskind, C., Sampson, J., Goyal, N., Rocha, A. C. T., & Day, J. (2021). Exome testing most useful for people with recessive CMT. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. WILEY. -
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Marbach, F., Stoyanov, G., Erger, F., Stratakis, C. A., Settas, N., London, E., … Schaaf, C. P. (2021). Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. GENETICS IN MEDICINE. -
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
Kyle, J. E., Stratton, K. G., Zink, E. M., Kim, Y.-M., Bloodsworth, K. J., Monroe, M. E., … Metz, T. O. (2021). A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases. SCIENTIFIC DATA, 8(1), 114. -
Dominant and Recessive Congenital Myasthenic Syndromes Caused by SYT2 Mutations.
Maselli, R. A., Wei, D. T., Hodgson, T. S., Sampson, J., Vazquez, J., Smith, H. L., … Ferns, M. (2021). Dominant and Recessive Congenital Myasthenic Syndromes Caused by SYT2 Mutations. Muscle & Nerve. -
Advances in the therapy of Spinal Muscular Atrophy.
Klotz, J., Rocha, C. T., Young, S. D., Duong, T., Buu, M. M., Sampson, J., & Day, J. W. (2021). Advances in the therapy of Spinal Muscular Atrophy. The Journal of Pediatrics. -
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Beijer, D., Kim, H. J., Guo, L., O'Donovan, K., Mademan, I., Deconinck, T., … Baets, J. (2021). Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation. JCI Insight, 6(14). -
A variant of uncertain significance in SDHAF1, the succinate dehydrogenase chaperone protein, in an adult patient with spastic paraparesis and leukoencephalopathy.
Vlahovic, L., Lock, C. B., Han, M. H., Van Haren, K., & Sampson, J. B. (2021). A variant of uncertain significance in SDHAF1, the succinate dehydrogenase chaperone protein, in an adult patient with spastic paraparesis and leukoencephalopathy. Multiple Sclerosis and Related Disorders, 54, 103132. -
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
Kohler, J. N., Kelley, E. G., Boyd, B. M., Sillari, C. H., Marwaha, S., & Wheeler, M. T. (2021). Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. Journal of Genetic Counseling. -
Nusinersen Treatment in Adults With Spinal Muscular Atrophy.
Duong, T., Wolford, C., McDermott, M. P., Macpherson, C. E., Pasternak, A., Glanzman, A. M., … Day, J. W. (2021). Nusinersen Treatment in Adults With Spinal Muscular Atrophy. Neurology. Clinical Practice, 11(3), e317–e327. -
Leriglitazone Reduces Cerebral Lesions and Improves Biomarkers Related to Axonal Degeneration, Inflammation and Compromised Blood-Brain-Barrier in Patients with Adrenomyeloneuropathy
Mochel, F., Eichler, F., Engelen, M., Lachman, R., Fatemi, A., Sampson, J., … Kohler, W. (2021). Leriglitazone Reduces Cerebral Lesions and Improves Biomarkers Related to Axonal Degeneration, Inflammation and Compromised Blood-Brain-Barrier in Patients with Adrenomyeloneuropathy. ANNALS OF NEUROLOGY. WILEY. -
Results of Double-blind, Placebo-controlled, Dose Range Finding, Crossover Study of Single Day Administration of ERX-963 (IV Flumazenil) in Adults with Myotonic Dystrophy Type 1
Sampson, J., Wang, E., Day, J., Gutmann, L., Mezerhane, E., Seto, A., & Ehrich, E. (2021). Results of Double-blind, Placebo-controlled, Dose Range Finding, Crossover Study of Single Day Administration of ERX-963 (IV Flumazenil) in Adults with Myotonic Dystrophy Type 1. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS. -
Toward Developing Robust Myotonic Dystrophy Brain Biomarkers using White Matter Tract Profiles Sub-Band Energy and A Framework of Ensemble Predictive Learning.
Kamali, T., Parker, D., Day, J. W., Sampson, J., Deutsch, G. K., & Wozniak, J. R. (2021). Toward Developing Robust Myotonic Dystrophy Brain Biomarkers using White Matter Tract Profiles Sub-Band Energy and A Framework of Ensemble Predictive Learning. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2021, 3838–3841. -
Brief assessment of cognitive function in myotonic dystrophy: multicenter longitudinal study using computer-assisted evaluation.
Deutsch, G. K., Hagerman, K. A., Sampson, J., Dent, G., Dekdebrun, J., Parker, D. M., … Day, J. W. (2022). Brief assessment of cognitive function in myotonic dystrophy: multicenter longitudinal study using computer-assisted evaluation. Muscle & Nerve. -
Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019.
Howe, S. J., Ladipus, D., Hull, M., Yeaw, J., Stevenson, T., & Sampson, J. B. (2022). Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019. Orphanet Journal of Rare Diseases, 17(1), 79. -
Correction: Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019.
Howe, S. J., Lapidus, D., Hull, M., Yeaw, J., Stevenson, T., & Sampson, J. B. (2022). Correction: Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019. Orphanet Journal of Rare Diseases, 17(1), 260. -
Cognitive Impairment Analysis of Myotonic Dystrophy via Weakly Supervised Classification of Neuropsychological Features.
Kamali, T., Deutsch, G. K., Hagerman, K. A., Parker, D., Day, J. W., Sampson, J. B., & Wozniak, J. R. (2022). Cognitive Impairment Analysis of Myotonic Dystrophy via Weakly Supervised Classification of Neuropsychological Features. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2022, 4377–4382. -
Multimodal fusion of neuroimaging and neuropsych data: A machine learning approach to study brain alterations linked with cognitive domains in DM1
Kamali, T., Parker, D., Deutsch, G., Sampson, J., Day, J., & Wozniak, J. (2022). Multimodal fusion of neuroimaging and neuropsych data: A machine learning approach to study brain alterations linked with cognitive domains in DM1. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD. -
Evaluating 2-3 year responses to disease modifying treatment in adults with spinal muscular atrophy
Duong, T., Tang, W., Young, S. D., Parker, D., Wolford, C., Sampson, J., & Day, J. (2022). Evaluating 2-3 year responses to disease modifying treatment in adults with spinal muscular atrophy. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD. -
A concurrent dual analysis of genomic data augments diagnoses: experiences of two clinical sites in the Undiagnosed Diseases Network.
Spillmann, R. C., Tan, Q. K.-G., Reuter, C., Schoch, K., Kohler, J., Bonner, D., … Shashi, V. (2022). A concurrent dual analysis of genomic data augments diagnoses: experiences of two clinical sites in the Undiagnosed Diseases Network. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Kohler, W., Engelen, M., Eichler, F., Lachmann, R., Fatemi, A., Sampson, J., … Mochel, F. (2023). Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial. The Lancet. Neurology, 22(2), 127–136. -
Exploring Protein Changes in Cerebrospinal Fluid of Spinal Muscular Atrophy Patients Pre-Nusinersen vs. Post-Nusinersen Treatment using Bayesian Machine Learning Algorithms
Kamali, T., Hagerman, K., Duong, T., Parker, D., Young, S., Tang, W., … Day, J. (2022). Exploring Protein Changes in Cerebrospinal Fluid of Spinal Muscular Atrophy Patients Pre-Nusinersen vs. Post-Nusinersen Treatment using Bayesian Machine Learning Algorithms. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS. -
Mesial Temporal Enlargement in Adult-Onset Myotonic Dystrophy Type 1
Fecto, F., Parker, D., Sampson, J., Mueller, B., Lim, K., Wozniak, J., … Day, J. (2022). Mesial Temporal Enlargement in Adult-Onset Myotonic Dystrophy Type 1. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS. -
Mesial Temporal Enlargement in Adult-Onset Myotonic Dystrophy Type 1
Fecto, F., Parker, D., Sampson, J., Mueller, B., Lim, K., Wozniak, J., … Day, J. (2022). Mesial Temporal Enlargement in Adult-Onset Myotonic Dystrophy Type 1. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS. -
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial
Koehler, W., Engelen, M., Eichler, F., Lachmann, R., Fatemi, A., Sampson, J., … Adv Study Grp. (2023). Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial. LANCET NEUROLOGY, 22(2), 127–136. -
Participation in a national diagnostic research study: assessing the patient experience.
Rosenfeld, L. E., LeBlanc, K., Nagy, A., Ego, B. K., & McCray, A. T. (2023). Participation in a national diagnostic research study: assessing the patient experience. Orphanet Journal of Rare Diseases, 18(1), 73. -
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
Nutter, C. A., Kidd, B. M., Carter, H. A., Hamel, J. I., Mackie, P. M., Kumbkarni, N., … Swanson, M. S. (2023). Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1. Brain : a Journal of Neurology. -
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
Halley, M. C., Young, J. L., Tang, C., Mintz, K. T., Lucas-Griffin, S., Maghiro, A. S., … Tabor, H. K. (2023). Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. The Journal of Pediatrics, 113537. -
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
Halley, M. C., Young, J. L., Tang, C., Mintz, K. T., Lucas-Griffin, S., Maghiro, A. S., … Undiagnosed Diseases Network. (2023). Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. JOURNAL OF PEDIATRICS, 261. -
Correction: Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes.
Berndt, S. I., Vijai, J., Benavente, Y., Camp, N. J., Nieters, A., Wang, Z., … Rothman, N. (2023). Correction: Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes. Leukemia. -
A Multimodal Neuroimaging Feature Extraction Framework for Biomarker Discovery in Myotonic Dystrophies
Kamali, T., Day, J., Sampson, J., Murad, A., & Chaufty, J. (2023). A Multimodal Neuroimaging Feature Extraction Framework for Biomarker Discovery in Myotonic Dystrophies. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS. -
Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy.
Beaudin, M., Kamali, T., Tang, W., Hagerman, K. A., Dunaway Young, S., Ghiglieri, L., … Day, J. W. (2023). Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy. Journal of Clinical Medicine, 12(20). -
A Phase 3 Clinical Trial of Leriglitazone with Adaptive Placebo-Controlled Treatment Duration in Adults with Cerebral Adrenoleukodystrophy
Fatemi, A., Koehler, W., Eichler, F., Mochel, F., Sadjadi, R., Lund, T., … Martinell, M. (2023). A Phase 3 Clinical Trial of Leriglitazone with Adaptive Placebo-Controlled Treatment Duration in Adults with Cerebral Adrenoleukodystrophy. ANNALS OF NEUROLOGY. WILEY. -
Learning Spectral Fractional Anisotropy and Mean Diffusivity Features as Neuroimaging Biomarkers for Tracking White Matter Integrity Changes in Myotonic Dystrophy Type 1 Patients using Deep Convolutional Neural Networks.
Kamali, T., Day, J. W., Deutsch, G. K., Sampson, J. B., Murad, A., Chaufty, J., … Wozniak, J. R. (2023). Learning Spectral Fractional Anisotropy and Mean Diffusivity Features as Neuroimaging Biomarkers for Tracking White Matter Integrity Changes in Myotonic Dystrophy Type 1 Patients using Deep Convolutional Neural Networks. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2023, 1–4. -
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort, S., Mohassel, P., O'Leary, M., Bonner, D. E., Hartley, T., Acquaye, N., … Bönnemann, C. G. (2024). Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of Clinical and Translational Neurology.
Practice Locations
Neuromuscular Program at the Neuroscience Health Center Palo Alto, CA
Palo Alto, CA
Neuromuscular Program at the Neuroscience Health Center
213 Quarry Road
Palo Alto , CA 94304
Make An Appointment More Clinic Information » Getting Here »Stanford Neuroscience Health Center Palo Alto, CA
Palo Alto, CA
Stanford Neuroscience Health Center
213 Quarry Road
Palo Alto , CA 94304
Make An Appointment More Clinic Information » Getting Here »Neurogenetic Cancer Palo Alto, CA
Palo Alto, CA
Neurogenetic Cancer
213 Quarry Road
Palo Alto , CA 94304
Make An Appointment More Clinic Information » Getting Here »Important Information about Our Organizations and Physician Affiliation
Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners are each independent nonprofit organizations that are affiliated with but separate from each other and from Stanford University. The physicians who provide care at facilities operated by Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners are faculty, foundation, or community physicians who are not employees, representatives, or agents of Stanford Health Care, Stanford Health Care Tri- Valley, or Stanford Medicine Partners. Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners do not exercise control over the care provided by such faculty, foundation, and community physicians and are not responsible for their actions.
Patient Reviews
(208 reviews)
Dr. Jacinda Sampson is very thorough. She had very good suggestions for very difficult situations. She not only suggests solutions but also offers to make phone calls, send prescriptions, and anything she can help with on her end. Her visits have been very helpful to keep us thinking what we need to do for a progressive condition. She is kind and gentle and easy to talk to. I really appreciate her input.
Jacinda the best very responsible and professional
She was very attentive and welcomed my questions and comments. We covered a lot of territory about my recent experience, which I appreciated.
I am so deeply grateful for the expertise and information Dr. Sampson gave me during this appointment. It's been more than a year that I've had symptoms that have become increasingly alarming. I now feel that I have someone I can count on to help me sort out what is happening, and address it with kindness, intelligence, and foresight, no matter the severity. Please give Dr. Sampson my deepest thanks and regards. I look forward to our next visit to know the results of our ongoing investigation, even though the news may not be what I want to hear.
Dr. Sampson is always so thoughtful and kind, and very knowledgeable. I am so grateful she is my doctor.
My Neuro geneticist was very knowledgeable and helpful and answered my questions
took the time to listen to my concerns
My wife, older daughter and I were very impressed.
I like her. the is very good to point of the issue
Dr Sampson is always punctual, kind, caring and informative. She listens to what we are experiencing-asks questions and then helps us with what we need. I appreciate that she reiterates what has been discussed, and what is expected. Helps to keep us all in on the same page.
She did a great job.
Not only is Dr. Sampson distinctively knowledgeable and experienced, she also listen to the patients. A rare combination.
The service is great
Dr. Sampson is very kind and helpful doctor. She answered all my questions. When reviewing my test results she fully explained everything.
I will recommend her to family and friends that might need a Neurologist.
Thank you very much.
WE LOVE YOU!!! THANK YOU!
Dr. Sampson took a lot of time to hear our story and concerns.
Dr. Sampson is amazing!
Excellent Dr. Explains everything very well and takes her time.
Dr. Sampson provided excellent information regarding my daughter's condition. She spoke to us in very professional caring way, she explained things that we understood and answered the many questions we had. She took the time to really listen.. Our heartfelt appreciation Dr. Sampson.
Jacinda is excellent at listening to the patient and following up with targeted questions.
Excellent question and answer session
She is helpful and suggests further testing when necessary.
Dr. Sampson listened carefully, asked pertinent questions, answered my questions clearly, showed interest in my case, and set up a plan to address the issues. She could not have done a better job. I was impressed and grateful.
Great Dr
She is an excellent listener and always seems interested in my comments and questions. I would definitely recommend her to other patients with a neuromuscular disease.
very nice and helpful
She's a wonderful neurologist, I have a lot of confidence in her.
Excellent
Dr Sampson is amazing!!!! She is so brilliant, thoughtful, and I’m grateful to have her head up the team taking care of care my health care needs.
I thought Dr Sampson was personable, thorough, and provided professional help.
She was very focused on my recent changes, asked questions and modified my prescriptions which I appreciate.
Take time to explain things well.
The staff was very efficient and nice
Excellent care provided by Stanford Health Care.
Definitely I will recommend to others.
She understood well my situation and explained me well. Answered all my questions well
Friendly, thorough, helpful.
Excellent explanations. Made me feel at ease.
Excellent doctors and staff. Friendly and knowledgeable. Always enjoy my visit.
Amazed that the expertise spent on me was so high!!
Dr. Sampson is a wonderful doctor. She listens carefully to all my questions & concerns. Dr. Sampson is very knowledgeable about my daughters medical condition. Anytime i’ve left a message her staff gets back to us in a timely matter. There’s been several occasions Dr. Sampson has called us directly. On behalf of our daughter she is appreciated very much.
Distinct in every way.
Very respectful and professional.
Dr. Sampson was very kind, compassionate, and informative. All the staff was professional and caring.
Jacinda Sampson was great and spent the necessary time with me.
She’s so nice and explained everything about my sickness
Dr. Sampson is exceptional!
I like Dr. Sampson, She is very personable.
Thank you to the team of doctors that evaluted me. They took their time to evaluate many aspects and explained everything.
She listened, did some testing in the office & ordered immediate labwork I could go get done right after my appt. I appreciate the efficiency of Stanford!
She is an excellent Doctor.
La doctora Jacinda Sampson, a sido muy excelente, atenta, compasiva, se a esforzado en ayudarme en mis problemas de salud. Le agradezco a Dios por su vida. Que Dios la bendiga y le siga dando la sabidurÃa y la compasión para ayudar a muchos enfermos más. MuchÃsimas gracias!!!
Dr Sampson is an extraordinary physician, working to understand the whole person to better treat the patient.
She is Very knowledgeable and caring. She always makes sure all my questions are addressed and she is very professional. Great Doctor!
Dr Sampson is awesome.
Always a nice visit. Staff is wonderful
Very thorough and explained things in detail.
The team were superb, thank you
Dr. Sampson was particularly helpful in answering my questions and is working more than any other doctor to follow through on my problems. I sincerely appreciate all her efforts. Thanks.
I felt my doctor was very concerned about my health and trying to get on track what was going on with my body. Thank you so much
She was very thorough
Dr. Sampson is very pleasant to communicate with and is genuinely concerned for my well being. I would recommend anyone in need of a neurologist to seek her health care.
Excellent and understanding dr
Thank you for understanding my needs.
everyone seems friendly and like they genuinely want to be of help
Exceptional service
She is amazing! So happy to have found her!
She was very good, took her time, explained things well, seemed focus on our conversation and not distracted, answered all of my questions, was thoughtful.
We couldn't have been more olease and reassured with our visit at the Neuromuscular Clinic!
Dr Sampson is amazing!
I felt at ease after some apprehension once I began the video visit. Dr. Sampson was very thorough during her assessment of me. She was articulate, compassionate, and genuinely interested in a diagnosis and a direction leading to a positive prognosis.
Very professional and personable ..
Everyone was very helpful and friendly
She takes the time to review symptoms and validates them with compassion. She looks for ways to help and is willing to complete testing yo get the bottom of symptoms.
I was Comfortable with the video chat visit. I felt like Dr. Sampson was concerned. And hope I was able to answer everything she needed to know.
She is very patient and knowledgeable and very compassionate.
Dr. Sampson is very thorough and knowledgeable. She has such a great personable attitude towards patient care and following through with diagnosing as well as managing symptoms.
Excellent Doctor and coordinates everything very well. Highly recommend her to the DM community
Appointment went smoothly, very skilled health practitioners.
I feel very fortunate to have Dr. Sampson caring for my daughter. She’s very knowledgeable. She can usually answer all my questions. If not she will check and get back with me.
She is an excellent doctor. Very thorough, professional and easy to talk to. She answered all my questions and was very knowledgeable.
But all in all Dr Sampson is winderful in explaining my daughters test result and very attentive with her needs. I am so grateful with her.
i really appreciate the time Dr. Jacinta takes, listening and discussing care options.
I am very pleased with Dr. Simpson's proposed plan for what we will do next.
Listens, delineates alternatives, empathizes
Lucky to have her in my corner.
Wonderful staff and especially Dr. Yaworski and Dr.Sampson
Listens! Thorough! Communicates! Integrates neurological with other health problems
I highly recommend Stanford.
The providers were very thorough in gathering details and listening to my concerns. They clearly explained what they would like to do for plan of care, and took my areas of concerns seriously.
Dr. Sampson was extremely knowledgeable about manifest ALD carriers. She offered a lot of therapy ideas. Was very positive about my future and possible challenges.
She listens - she acts - she seeks advice - she cares - she is knowledgeable
good help
Very thorough exam and discussion.
Dr. Jacinda Sampson was professional and very intrigued of my LZTR1 diagnosis.
Dr. Sampson is truly one of the very greatest gifts of my life. She is the best doctor I’ve ever had, and I’ve seen well over 100 doctors. She’s brilliant, creative, down-to-earth, personable, listens, genuinely cares about her patients, and never gives up on an elusive diagnosis. I can’t adequately express in words my extreme gratitude for her!
The nurses and doctors were great. Very knowledgeable and very friendly.
Very collaborative and knowledgeable
She definitely gets an A+++
She is extremely knowledgeable about Myotonic Dystrophy. I feel I can ask her any question. She treats me like a person and concerned about health issues.
Thank you for ruling out some major possible medical problems. Good Job !
Dr Sampson cares with her heart ! Makes everything clear !
VERY PROFESSIONAL AND KNOWLEDGEABLE DOCTOR ALSO SHE IS VERY KIND AND CONCERNING ABOUT MY HEALTH PROBLEMS AND WHAT I NEED TO DO TO FEEL BETTER.
Again A+++
She is knowledgeable, thorough, and compassionate. We are very grateful.
As usual, I trust her implicitly and she listens well.
It was an honor getting to know Dr Sampson !!
Wonderful!!!
Love her as my dr. Feel very comfortable with her as well as her staff.
Excellent service
Compassionate very good Doctor..
Dr. Sampson was pleasant, knowledgeable, thorough, and helpful. I will schedule another appointment if I need her expertise.
She's very clear and explains everything--excellent.
Fantastic doctor. She thoroughly explained everything in an understandable way and had clear steps for me to take.
Very professional and thorough.
Dr. Sampson is such a great provider, the care I have been receiving from her is excellent
Dr. Sampson is outstanding
Everything was fine with Jacinda Sampson
She is wonderful! I greatly appreciate her expertise, knowledge, and care.
She is thorough and makes me feel as though she cares about helping me. I appreciate her concern for my well being.
She did not rush me and I felt confident about my care.
Thank you.
Excellent care
I can tell that she cares about my health and my sadness of the loss of our daughter Amber to a Mitochondrial disorder. She is hoping the research into my muscle biopsy gives some more answers to which mitochondrial disorder I carry. With all the hardships in my family of diseases and many deaths I find it hard to trust doctors. Dr. Sampson hows she cares and would like to ease my fears.
Dr Sampson was very accommodating and professional
Dr. Jacinda Sampson is thorough and professional. She took the time to listen to my concerns and is providing excellent care and follow-up.
Very good.
Excellent communication with nurse and doctors. Easy, approachable to ask questions about disorder.
Dr. Sampson is the best!
Good help & answered all questions.
Dr. Sampson was personable and Dr. Beth was as well. The time allotted for my interview was very adequate. All the usual physical tests instructed well and I executed them to the best of my ability.
Great.
Doc took my cue and although was willing to shake my hand, stated that she would honor my request and wave goodbye (with smile).
Dr. Sampson is exceptional in all ways - can't say enough good about her. What a blessing she is in my life!
I very seldom rate any experience this high, but my treatment definitely deserved this rating.
Wonderful Fellow, Dr., and others.
Fantastic visit with Dr. Sampson!
good
Dr. Sampson has a great way of interacting with me. She spent plenty of time with me without feeling rushed and answered all my questions.
Dr. Sampson and her resident were friendly, thorough and explained things so I understood.
grumpy and sometimes dirty appeareance
Dr. Sampson is fantastic. She explains things thoroughly and has a warm bearing. She is very easy to talk to -
Unlike many doctors I have seen in the past, Dr. Sampson was truly interested in seeing me and helping.
Excellent, outstanding care has always been provided to our daughter/patient.
Dr. Sampson & Dr. Lu were both fantastic. They were both good listeners, very professional, warm, caring & compassionate!
Dr. Sampson is the best doctor I have ever had...and I've seen a lot of them. I think EXTREMELY highly of her, and am EXTREMELY grateful for her.
We just think the world of Dr. Sampson! Our son Robert has neurofibromatosis and there are lots of issues going on- headaches, backaches, blindness, stomach aches. Dr. Sampson always spends lots of time with Robert, asking questions and suggesting ideas to make things better. She is so kind and caring and I always feel better when have been in to see her. We feel so lucky to have her overseeing Robert's care.
Dr Sampson was great. Very happy to have her.
I appreciate all that Dr. Sampson is doing to try to help me.
Dr. Sampson bedside manner are simply the best. She is so concern and seems to enjoy explaining anything I could not understand.
Dr. Sampson is awesome! She is very caring and explains things very well.
Dr. Sampson is very knowledgeable, thorough, kind. I wanted to see if she agreed with another doctors diagnosis. She had a different diagnosis and thoroughly explained why. Appreciate her.
I was impressed with how much time my provider spent with me.
Dr. Sampson is excellent at explaining complex things in ways I can understand easily.
Dr. Sampson was great.
Dr. Jacinda Sampson is one of the very best, if not the best, doctor I have ever had!
Dr. Sampson was very good good about explaining my condition so I could understand.
Dr. Sampson was very good. She took the time to do a complete exam and look at my complete medical history.
Dr. Sampson is an incredible provider; her concern, her ability to explain, her involvement, all are excellent.
Dr. Sampson was amazing!! I was extremely pleased with the visit. She answered all our questions and did not rush through the visit.
Dr. Sampson is very great doctor.
Provider very thorough.
Thank you very much! God bless you. Very kind.
Dr Sampson is a caring, motiveded physician.
Very courteous & thorough. Took the time to answer all questions & was very empathetic.
I appreciate the doctor a lot, for her love & help, thank you very much is a very good doctor. God bless you always.
Dr. Sampson is an excellent representative of Stanford = professional yet kind - A good combination!
Dr. Sampson was very caring with me and my family.
I wish I had found this provider sooner. Excellent care. She has brought back my trust in medical professionals.
Dr. Sampson is legitimately one of the best physicians I have ever encountered and feel very fortunate to be under her care. I did not even know neuromuscular genetics existed as a discipline, and Dr. Sampson is clearly an outstanding practitioner in the field with a global medical and scientific mind.
Dr. Jacinda Sampson is wonderful, she was very informative and thorough with her assessment. I appreciated her follow up on MyHealth app. Her nurse has also given me prompt follow up to email questions.
I'm very happy with the care and time the dr. take with me. I give a 10+.
Dr. was very knowledgeable of my condition and her explanations & discussion were greatly appreciated. I & my wife feel very confident in Dr. Sampson's care.
NO exaggeration - Dr. Sampson is the best doctor I've ever had, and that says a lot because I've been fortunate to have very good ones. She gives me hope and I'm deeply grateful to her!
She took the time to make sure I understood my situation completely.
Very good.
very good explanation of reasons for initial diagnosis, purpose of each test done, revised diagnosis based on results of tests. Positive recommendations for improving conditions which directed me to neurology clinic.
I was highly impressed with the amount of time the doctor spent w me together my family history, provided me information about the medical condition, and allowed me to make an informed decision.
My care provider help me to understand my problem and... health needed with very good understanding and health care.
I LOVE Dr. Sampson! She is always so kind & thorough. She was able to provide me with the answers & resources I needed. I'm doing SO much better!
Dr. Sampson is amazing. She was attentive & very thorough. She listened to all of my concerns & was genuine in her care. Love her!
Extremely pleased with time given to me on my first visit. Very thorough exam & questions. Also, excellent prompt response to follow up inquiries on the portal.
Dr. Sampson was very thorough in her evaluation. she was very respectful to me and very thoughtful regarding my questions.
Doctor Sampson. is very good. She explained every thing very clear to me. she is very helpful Thank you very much
Dr. Sampson is wonderful! A kind and caring expert!! She really listens and knows her stuff.
Excellent care, kind, thorough, capable, but long wait.
Everything was great.
Dr. Sampson was wonderful! She could really explain what was going on and answered my many questions.
Dr. Sampson was excellent!
I've got the best in Dr Sampson and Dr Cao
Dr Sampson is a wonderful Doctor and a credit to Stanford.
some of the recommended follow up test I am not familiar with. Maybe I should have asked more questions.
Only a good experience.
Dr. Sampson is an impressive doctor with excellent listening skills, genuine interest in my concerns, and obvious compassion.
Dr. Sampson is absolutely amazing! She is so thorough, genuine and incredibly sincere in truly wanting to help solve my problems. Her explanations and way of communicating is what all doctors should drive for. she has great respect for me as a patient and explains thoroughly to the best of her knowledge. She is incredibly knowledgable and very patient to fully listen to my concerns. She goes above and beyond. I am so impressed with her, my perception and respect for Standord has significantly for the better.
Dr. Sampson was great and I am so happy she was the one I was assigned -- I couldn't have asked for a better doctor to help me deal with the problems I'm having. She prescribed a number of tests which are now completed and I'm very anxious to hear the results, so my feedback is limited to the first interaction at this point. I am so grateful she spent the time with me that I needed, and have high confidence my follow-up will be productive.
I am so pleased and thankful to have Dr. Sampson
I really appreciated the time & effort Dr. Sampson had with me.
Felt a real connection.
I like her very much.
Truly outstanding.
I was told to stop taking one of the medications a previous provider had prescribed (not Stanford) and the alleviated one of my symptoms enough that I noticed a difference. Thank you!
Felt listened to and taken seriously.
Dr. Sampson was amazing! Incredibly thorough and explained in a language easily understandable. We have already recommended her to friends. Very down to earth and real. Loved her!!
Dr. Sampson is attentive and takes time with me, even when she doesn't have much of it.
Dr. Sampson was highly professional as well as appropriate. Very thorough in her examination and diagnosis.
The dr spent nearly 2 hours with me and gave a very thorough exam. No neurologist has ever given me so much attention.
Very good, thanks!
Excellent.
Dr. Sampson, very thorough & nailed our issues - got us referral & would definitely recommend her -
I felt heard & understood. The doctor was approachable & knowledgeable.
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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 and lab orders
- View referral status
- Access medical records