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Clinical Genetics
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October 19, 2023
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic
Jennifer A Sullivan, Rebecca C Spillmann, Kelly Schoch, et al.
Cold Spring Harbor Molecular Case Studies
|
July 21, 2018
Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease
Julia Wattacheril, Patrick R Shea, Saeed Mohammad, et al.
Blood
|
October 12, 2022
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma
Naser Ansari-Pour, Mehmet Samur, Erin Flynt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 17, 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
Vandana Shashi, Kelly Schoch, Rebecca Spillmann, et al.
The EMBO Journal
|
December 15, 2015
Subtelomeric p53 binding prevents accumulation of DNA damage at human telomeres
Stephen Tutton, Greggory A Azzam, Nicholas Stong, et al.
Genetics
|
April 6, 2022
Ancestry adjustment improves genome-wide estimates of regional intolerance
Tristan J Hayeck, Nicholas Stong, Evan Baugh, et al.
British Journal of Haematology
|
July 16, 2025
Distinct patient, tumour and chimeric antigen receptor T-cell characteristics are associated with initiating versus sustaining responses to idecabtagene vicleucel in relapsed and refractory multiple myeloma
Nathan Martin, Ethan Thompson, Nicholas Stong, et al.
Cell Reports. Medicine
|
May 22, 2024
Pharmacodynamic changes in tumor and immune cells drive iberdomide's clinical mechanisms of activity in relapsed and refractory multiple myeloma
Michael Amatangelo, Erin Flynt, Nicholas Stong, et al.
Genome Research
|
March 29, 2014
Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline
Nicholas Stong, Zhong Deng, Ravi Gupta, et al.
Human Mutation
|
July 3, 2019
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
Vandana Shashi, Janelle Geist, Youngha Lee, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 53) with videos related to
Sort By:
Page
of 6
Clinical Genetics
|
October 19, 2023
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic
Jennifer A Sullivan, Rebecca C Spillmann, Kelly Schoch, et al.
Cold Spring Harbor Molecular Case Studies
|
July 21, 2018
Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease
Julia Wattacheril, Patrick R Shea, Saeed Mohammad, et al.
Blood
|
October 12, 2022
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma
Naser Ansari-Pour, Mehmet Samur, Erin Flynt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 17, 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
Vandana Shashi, Kelly Schoch, Rebecca Spillmann, et al.
The EMBO Journal
|
December 15, 2015
Subtelomeric p53 binding prevents accumulation of DNA damage at human telomeres
Stephen Tutton, Greggory A Azzam, Nicholas Stong, et al.
Genetics
|
April 6, 2022
Ancestry adjustment improves genome-wide estimates of regional intolerance
Tristan J Hayeck, Nicholas Stong, Evan Baugh, et al.
British Journal of Haematology
|
July 16, 2025
Distinct patient, tumour and chimeric antigen receptor T-cell characteristics are associated with initiating versus sustaining responses to idecabtagene vicleucel in relapsed and refractory multiple myeloma
Nathan Martin, Ethan Thompson, Nicholas Stong, et al.
Cell Reports. Medicine
|
May 22, 2024
Pharmacodynamic changes in tumor and immune cells drive iberdomide's clinical mechanisms of activity in relapsed and refractory multiple myeloma
Michael Amatangelo, Erin Flynt, Nicholas Stong, et al.
Genome Research
|
March 29, 2014
Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline
Nicholas Stong, Zhong Deng, Ravi Gupta, et al.
Human Mutation
|
July 3, 2019
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
Vandana Shashi, Janelle Geist, Youngha Lee, et al.
Page
of 6