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The Journal of Molecular Diagnostics : JMD|January 25, 2022
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards InstituteMarco L Leung, Jianling Ji, Samuel Baker, et al.
Carcinogenesis|January 11, 2014
Inhibition of hypoxia-inducible factors limits tumor progression in a mouse model of colorectal cancerJessica E S Shay, Hongxia Z Imtiyaz, Sharanya Sivanand, et al.
Nature Communications|September 22, 2015
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasiaViktor Lukacs, Jayanti Mathur, Rong Mao, et al.
The Journal of Clinical Investigation|March 20, 2012
Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processesNicolas Skuli, Amar J Majmundar, Bryan L Krock, et al.
Human Mutation|July 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classificationMelissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, et al.
European Journal of Human Genetics : EJHG|January 11, 2019
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approachChao Wu, Batsal Devkota, Perry Evans, et al.
Nature Immunology|May 7, 2013
Natural and inducible TH17 cells are regulated differently by Akt and mTOR pathwaysJiyeon S Kim, Tammarah Sklarz, Lauren B Banks, et al.
The Journal of Molecular Diagnostics : JMD|December 23, 2018
Automated Clinical Exome Reanalysis Reveals Novel DiagnosesSamuel W Baker, Jill R Murrell, Addie I Nesbitt, et al.
The Journal of Molecular Diagnostics : JMD|January 22, 2022
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, et al.
American Journal of Human Genetics|May 23, 2020
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and OsteochondromasDara Tolchin, Jessica P Yeager, Priya Prasad, et al.
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