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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Kelly Schoch, Cecilia Esteves, Anna Bican, et al.
Blood
|
June 29, 2026
NSD2 Degradation Remediates the Oncogenic Cistrome in t(4;14) Multiple Myeloma
Bo Hu, Jacob Edwards, Hardik Modi, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
Bradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
American Journal of Medical Genetics. Part A
|
May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Caroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
Nature Communications
|
August 8, 2024
Transcriptomic classification of diffuse large B-cell lymphoma identifies a high-risk activated B-cell-like subpopulation with targetable MYC dysregulation
Matthew E Stokes, Kerstin Wenzl, C Chris Huang, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 19, 2023
Multiomic Analysis Identifies a High-Risk Metabolic and TME Depleted Signature that Predicts Early Clinical Failure in DLBCL
Kerstin Wenzl, Matt Stokes, Joseph P Novak, et al.
Blood Cancer Journal
|
June 20, 2024
Multiomic analysis identifies a high-risk signature that predicts early clinical failure in DLBCL
Kerstin Wenzl, Matthew E Stokes, Joseph P Novak, et al.
American Journal of Human Genetics
|
September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
Candace T Myers, Nicholas Stong, Emily I Mountier, et al.
American Journal of Human Genetics
|
October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Vandana Shashi, Loren D M Pena, Katherine Kim, et al.
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of 6
Search research articles
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Showing results (31-40 of 53) with videos related to
Sort By:
Page
of 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Kelly Schoch, Cecilia Esteves, Anna Bican, et al.
Blood
|
June 29, 2026
NSD2 Degradation Remediates the Oncogenic Cistrome in t(4;14) Multiple Myeloma
Bo Hu, Jacob Edwards, Hardik Modi, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
Bradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
American Journal of Medical Genetics. Part A
|
May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Caroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
Nature Communications
|
August 8, 2024
Transcriptomic classification of diffuse large B-cell lymphoma identifies a high-risk activated B-cell-like subpopulation with targetable MYC dysregulation
Matthew E Stokes, Kerstin Wenzl, C Chris Huang, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 19, 2023
Multiomic Analysis Identifies a High-Risk Metabolic and TME Depleted Signature that Predicts Early Clinical Failure in DLBCL
Kerstin Wenzl, Matt Stokes, Joseph P Novak, et al.
Blood Cancer Journal
|
June 20, 2024
Multiomic analysis identifies a high-risk signature that predicts early clinical failure in DLBCL
Kerstin Wenzl, Matthew E Stokes, Joseph P Novak, et al.
American Journal of Human Genetics
|
September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
Candace T Myers, Nicholas Stong, Emily I Mountier, et al.
American Journal of Human Genetics
|
October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Vandana Shashi, Loren D M Pena, Katherine Kim, et al.
Page
of 6