Joyce So

Assessing the Utilization of Electronic Consultations in Genetics: Seven-Year Retrospective Study

Sawona Biswas, Joyce So, Robert J. Wallerstein, Ralph Gonzales et autres

Background: Patient and health care provider access to genetic subspecialists is challenging owing to limited number of genetics experts across the United States. The University of California San Francisco (UCSF) Genetics electronic consultation (e-Consult) service was implemented along with the usual referral …

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P601: Assessing patient experience with informed consent for genetic testing in the inpatient setting

M. Katherine Shear, Joyce So

Obtaining informed consent for genetic testing includes several critical components, such as educating patients on the nature of the genetic test, its limitations, benefits, the risk of a variant of uncertain significance (VUS), and the protections and limitations of the Genetic Information …

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P594: The genetic testing USAGE (utility survey in an adult genetics environment) study

Sophia Sussman, Joyce So

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P326: Preliminary findings from the ABCDEFG (adult brain cohort – dissecting efficacy and efficiency of first-line genome-wide sequencing) study

Daniel Benavides, Allison Wheeler, Fion Ma, Soghra Jougheh Doust et autres

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Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants

Monica Penon‐Portmann, Kendyl Naugle, Frank L. Brodie, Julie M. Schallhorn et autres

Heterozygous mutations in the OPA3 gene are associated with autosomal dominant optic atrophy-3 (OPA3), whereas biallelic mutations cause autosomal recessive 3-methylglutaconic aciduria type III. To date, all cases with pathogenic variants in the gene OPA3 have presented with optic atrophy. We report …

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A Seven-Year Retrospective Assessment Evaluating the Effectiveness of Electronic Consultation (e-Consult) Service in Genetics (Preprint)

Sawona Biswas, Joyce So, Robert J. Wallerstein, Ralph Gonzales et autres

UNSTRUCTURED Electronic consultation (e-Consult) programs serve as a conduit between healthcare providers and specialized genetic experts. This retrospective chart review and summary report presents the experience of implementing a Genetics e-Consult Service at the University of California San Francisco (UCSF) from 2016 …

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A Seven-Year Retrospective Assessment Evaluating the Effectiveness of Electronic Consultation (e-Consult) Service in Genetics

Sawona Biswas, Joyce So, Robert J. Wallerstein, Ralph Gonzales et autres

ABSTRACT Electronic consultation (e-Consult) programs serve as a conduit between healthcare providers and specialized genetic experts. This retrospective chart review and summary report presents the experience of implementing a Genetics e-Consult Service at the University of California San Francisco (UCSF) from 2016 …

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When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

Venuja Sriretnakumar, Ricardo Harripaul, James L. Kennedy, Joyce So

Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated. Moreover, despite …

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The Diagnostic Landscape of Adult Neurogenetic Disorders

Maggie W. Waung, Fion Ma, Allison G. Wheeler, Clement C.H. Zai et autres

Neurogenetic diseases affect individuals across the lifespan, but accurate diagnosis remains elusive for many patients. Adults with neurogenetic disorders often undergo a long diagnostic odyssey, with multiple specialist evaluations and countless investigations without a satisfactory diagnostic outcome. Reasons for these diagnostic challenges …

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Delineation of Laminopathies as Progeroid and Neurodevelopmental Disorders Due to Deficient Nuclear Membrane Trafficking

Franciska Baur, Karin Weiss, Khansa Osman, Carol Saunders et autres

Background/Purpose: Autophagy is an essential intracellular pathway involved in the degradation of defective cellular cargo and plays a vital role in the protein quality control of post-mitotic cells such as neurons. Macroautophagy involves bulk or cargo-selective mechanisms, the latter including the specific …

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RARE OR RARELY DIAGNOSED? TREATABLE GENETIC SYNDROMES IN ADULT NEUROPSYCHIATRIC PATIENTS

Joyce So

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Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact

Elizabeth D. Buttermore, Stormy J. Chamberlain, Jannine DeMars Cody, Gregory Costain et autres