Hope Twede

Scientist

Publications

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- AI-Enhanced Sensemaking: Exploring the Design of a Generative AI-Based Assistant to Support Genetic Professionals
  
  Angela Mastrianni, Hope Twede, Aleksandra Sarcevic, Jeremiah (Miah) Wander, C. Austin-Tse, Scott Saponas, Heidi L. Rehm, Ashley Conard, Amanda K. Hall
  
  December 2024
  
  DOI Preprint
- A Comparison of Wearable Tonometry, Photoplethysmography, and Electrocardiography for Cuffless Measurement of Blood Pressure in an Ambulatory Setting
  
  Becky Mieloszyk, Hope Twede, Jonathan Lester, Jeremiah (Miah) Wander, Sumit Basu, Gabe Cohn, Greg Smith, Sidhant Gupta, Desney Tan, Nicolas Villar, Moni Wolf, Sailaja Malladi, Ron Paulsen, Scott Saponas
  
  IEEE Journal of Biomedical and Health Informatics | July 2022, Vol 26(7): pp. 2864-2875
  
  Publication
- Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.
  
  Hope Twede
  
  Neurology Genetics | November 2019, Vol 5(6)
  
  DOI Publication
- Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
  
  Hope Twede
  
  Scientific Reports | October 2019, Vol 9(1): pp. 15315
  
  DOI Publication
- Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
  
  Hope Twede
  
  Journal of Neurodevelopmental Disorders | February 2019, Vol 11(1): pp. 3-3
  
  DOI Publication
- Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.
  
  Hope Twede
  
  European Journal of Medical Genetics | December 2018, Vol 62(1): pp. 15-20
  
  DOI Publication
- A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf–Hirschhorn syndrome
  
  Hope Twede
  
  Epilepsy & Behavior | March 2018, Vol 81: pp. 55-61
  
  DOI Publication
- Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
  
  Hope Twede
  
  International Journal of Molecular Sciences | December 2016, Vol 17(12): pp. 2070
  
  DOI Publication
- Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
  
  Hope Twede
  
  BioMed Research International | November 2016, Vol 2016: pp. 3284534-3284534
  
  DOI Publication

- AI-Enhanced Sensemaking: Exploring the Design of a Generative AI-Based Assistant to Support Genetic Professionals
  
  Angela Mastrianni, Hope Twede, Aleksandra Sarcevic, Jeremiah (Miah) Wander, C. Austin-Tse, Scott Saponas, Heidi L. Rehm, Ashley Conard, Amanda K. Hall
  
  December 2024
  
  DOI Preprint
- AI-Enhanced Sensemaking: Exploring the Design of a Generative AI-Based Assistant to Support Genetic Professionals
  
  Angela Mastrianni, Hope Twede, Aleksandra Sarcevic, Jeremiah (Miah) Wander, C. Austin-Tse, Scott Saponas, Heidi L. Rehm, Ashley Conard, Amanda K. Hall
  
  December 2024
  
  DOI Preprint
- AI-Enhanced Sensemaking: Exploring the Design of a Generative AI-Based Assistant to Support Genetic Professionals
  
  Angela Mastrianni, Hope Twede, Aleksandra Sarcevic, Jeremiah (Miah) Wander, C. Austin-Tse, Scott Saponas, Heidi L. Rehm, Ashley Conard, Amanda K. Hall
  
  December 2024
  
  DOI Preprint
- A Comparison of Wearable Tonometry, Photoplethysmography, and Electrocardiography for Cuffless Measurement of Blood Pressure in an Ambulatory Setting
  
  Becky Mieloszyk, Hope Twede, Jonathan Lester, Jeremiah (Miah) Wander, Sumit Basu, Gabe Cohn, Greg Smith, Sidhant Gupta, Desney Tan, Nicolas Villar, Moni Wolf, Sailaja Malladi, Ron Paulsen, Scott Saponas
  
  IEEE Journal of Biomedical and Health Informatics | July 2022, Vol 26(7): pp. 2864-2875
  
  Publication
- Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.
  
  Hope Twede
  
  Neurology Genetics | November 2019, Vol 5(6)
  
  DOI Publication
- Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
  
  Hope Twede
  
  Scientific Reports | October 2019, Vol 9(1): pp. 15315
  
  DOI Publication
- Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
  
  Hope Twede
  
  Journal of Neurodevelopmental Disorders | February 2019, Vol 11(1): pp. 3-3
  
  DOI Publication
- Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.
  
  Hope Twede
  
  European Journal of Medical Genetics | December 2018, Vol 62(1): pp. 15-20
  
  DOI Publication
- A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf–Hirschhorn syndrome
  
  Hope Twede
  
  Epilepsy & Behavior | March 2018, Vol 81: pp. 55-61
  
  DOI Publication
- Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
  
  Hope Twede
  
  International Journal of Molecular Sciences | December 2016, Vol 17(12): pp. 2070
  
  DOI Publication
- Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
  
  Hope Twede
  
  BioMed Research International | November 2016, Vol 2016: pp. 3284534-3284534
  
  DOI Publication
- A Comparison of Wearable Tonometry, Photoplethysmography, and Electrocardiography for Cuffless Measurement of Blood Pressure in an Ambulatory Setting
  
  Becky Mieloszyk, Hope Twede, Jonathan Lester, Jeremiah (Miah) Wander, Sumit Basu, Gabe Cohn, Greg Smith, Sidhant Gupta, Desney Tan, Nicolas Villar, Moni Wolf, Sailaja Malladi, Ron Paulsen, Scott Saponas
  
  IEEE Journal of Biomedical and Health Informatics | July 2022, Vol 26(7): pp. 2864-2875
  
  Publication

- AI-Enhanced Sensemaking: Exploring the Design of a Generative AI-Based Assistant to Support Genetic Professionals
  
  Angela Mastrianni, Hope Twede, Aleksandra Sarcevic, Jeremiah (Miah) Wander, C. Austin-Tse, Scott Saponas, Heidi L. Rehm, Ashley Conard, Amanda K. Hall
  
  December 2024
  
  DOI Preprint
- A Comparison of Wearable Tonometry, Photoplethysmography, and Electrocardiography for Cuffless Measurement of Blood Pressure in an Ambulatory Setting
  
  Becky Mieloszyk, Hope Twede, Jonathan Lester, Jeremiah (Miah) Wander, Sumit Basu, Gabe Cohn, Greg Smith, Sidhant Gupta, Desney Tan, Nicolas Villar, Moni Wolf, Sailaja Malladi, Ron Paulsen, Scott Saponas
  
  IEEE Journal of Biomedical and Health Informatics | July 2022, Vol 26(7): pp. 2864-2875
  
  Publication
- Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.
  
  Hope Twede
  
  Neurology Genetics | November 2019, Vol 5(6)
  
  DOI Publication
- Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
  
  Hope Twede
  
  Scientific Reports | October 2019, Vol 9(1): pp. 15315
  
  DOI Publication
- Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
  
  Hope Twede
  
  Journal of Neurodevelopmental Disorders | February 2019, Vol 11(1): pp. 3-3
  
  DOI Publication
- Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.
  
  Hope Twede
  
  European Journal of Medical Genetics | December 2018, Vol 62(1): pp. 15-20
  
  DOI Publication
- A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf–Hirschhorn syndrome
  
  Hope Twede
  
  Epilepsy & Behavior | March 2018, Vol 81: pp. 55-61
  
  DOI Publication
- Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
  
  Hope Twede
  
  International Journal of Molecular Sciences | December 2016, Vol 17(12): pp. 2070
  
  DOI Publication
- Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
  
  Hope Twede
  
  BioMed Research International | November 2016, Vol 2016: pp. 3284534-3284534
  
  DOI Publication