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Rebecca C Spillmann

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Annual Review of Medicine|January 27, 2023

Exome/Genome Sequencing in Undiagnosed SyndromesJennifer A Sullivan, Kelly Schoch, Rebecca C Spillmann, et al.

Journal of Genetic Counseling|April 3, 2023

Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factorsAllyn McConkie-Rosell, Rebecca C Spillmann, Kelly Schoch, et al.

Medrxiv : the Preprint Server for Health Sciences|February 6, 2026

Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associationsIsabelle B Cooperstein, Alistair Ward, Shilpa N Kobren, et al.

Journal of Genetic Counseling|January 4, 2018

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?Allyn McConkie-Rosell, Stephen R Hooper, Loren D M Pena, et al.

Orphanet Journal of Rare Diseases|April 19, 2017

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases NetworkRebecca C Spillmann, Allyn McConkie-Rosell, Loren Pena, et al.

Journal of Genetic Counseling|June 11, 2021

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examplesAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.

Clinical Genetics|October 19, 2023

The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinicJennifer A Sullivan, Rebecca C Spillmann, Kelly Schoch, et al.

American Journal of Medical Genetics. Part A|February 22, 2020

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndromeDustin Baldridge, Rebecca C Spillmann, Daniel J Wegner, et al.

Journal of Genetic Counseling|March 3, 2018

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases NetworkChristina G S Palmer, Allyn McConkie-Rosell, Ingrid A Holm, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases NetworkRebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, et al.

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Search research articles

Showing results (1-10 of 40) with videos related to

Sort By:

Pageof 4

Annual Review of Medicine|January 27, 2023

Exome/Genome Sequencing in Undiagnosed SyndromesJennifer A Sullivan, Kelly Schoch, Rebecca C Spillmann, et al.

Journal of Genetic Counseling|April 3, 2023

Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factorsAllyn McConkie-Rosell, Rebecca C Spillmann, Kelly Schoch, et al.

Medrxiv : the Preprint Server for Health Sciences|February 6, 2026

Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associationsIsabelle B Cooperstein, Alistair Ward, Shilpa N Kobren, et al.

Journal of Genetic Counseling|January 4, 2018

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?Allyn McConkie-Rosell, Stephen R Hooper, Loren D M Pena, et al.

Orphanet Journal of Rare Diseases|April 19, 2017

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases NetworkRebecca C Spillmann, Allyn McConkie-Rosell, Loren Pena, et al.

Journal of Genetic Counseling|June 11, 2021

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examplesAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.

Clinical Genetics|October 19, 2023

The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinicJennifer A Sullivan, Rebecca C Spillmann, Kelly Schoch, et al.

American Journal of Medical Genetics. Part A|February 22, 2020

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndromeDustin Baldridge, Rebecca C Spillmann, Daniel J Wegner, et al.

Journal of Genetic Counseling|March 3, 2018

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases NetworkChristina G S Palmer, Allyn McConkie-Rosell, Ingrid A Holm, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases NetworkRebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, et al.

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