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Genome Medicine
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February 28, 2022
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Shruti Marwaha, Joshua W Knowles, Euan A Ashley
The Journal of Nursing Administration
|
February 19, 2020
Impact of Single Sign-on Adoption in an Assessment Triage Unit: A Hospital's Journey to Higher Efficiency
Neely James, Shruti Marwaha, Stacie Brough, et al.
Plos One
|
November 4, 2014
Crosstalks between cytokines and Sonic Hedgehog in Helicobacter pylori infection: a mathematical model
Shruti Marwaha, Michael A Schumacher, Yana Zavros, et al.
Journal of Genetic Counseling
|
August 10, 2021
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation
Jennefer N Kohler, Emily Glanton, Brenna M Boyd, et al.
Genome Medicine
|
October 22, 2025
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Isabelle B Cooperstein, Shruti Marwaha, Alistair Ward, et al.
NPJ Schizophrenia
|
September 14, 2017
Abnormalities of signal transduction networks in chronic schizophrenia
Jennifer L McGuire, Erica A Depasquale, Adam J Funk, et al.
Genome Biology
|
January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
Sarah Fazal, Matt C Danzi, Isaac Xu, 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 Network
Rebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, et al.
Journal of General Internal Medicine
|
March 20, 2019
A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis
Jason Hom, Shruti Marwaha, Anna Postolova, et al.
ACR Open Rheumatology
|
July 3, 2026
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
Annel Andrea Leon Tenorio, Takeshi Sugio, Jordan Cheng, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 28) with videos related to
Sort By:
Page
of 3
Genome Medicine
|
February 28, 2022
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Shruti Marwaha, Joshua W Knowles, Euan A Ashley
The Journal of Nursing Administration
|
February 19, 2020
Impact of Single Sign-on Adoption in an Assessment Triage Unit: A Hospital's Journey to Higher Efficiency
Neely James, Shruti Marwaha, Stacie Brough, et al.
Plos One
|
November 4, 2014
Crosstalks between cytokines and Sonic Hedgehog in Helicobacter pylori infection: a mathematical model
Shruti Marwaha, Michael A Schumacher, Yana Zavros, et al.
Journal of Genetic Counseling
|
August 10, 2021
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation
Jennefer N Kohler, Emily Glanton, Brenna M Boyd, et al.
Genome Medicine
|
October 22, 2025
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Isabelle B Cooperstein, Shruti Marwaha, Alistair Ward, et al.
NPJ Schizophrenia
|
September 14, 2017
Abnormalities of signal transduction networks in chronic schizophrenia
Jennifer L McGuire, Erica A Depasquale, Adam J Funk, et al.
Genome Biology
|
January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
Sarah Fazal, Matt C Danzi, Isaac Xu, 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 Network
Rebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, et al.
Journal of General Internal Medicine
|
March 20, 2019
A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis
Jason Hom, Shruti Marwaha, Anna Postolova, et al.
ACR Open Rheumatology
|
July 3, 2026
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
Annel Andrea Leon Tenorio, Takeshi Sugio, Jordan Cheng, et al.
Page
of 3