STEVEN SCHERER to Middle Aged
This is a "connection" page, showing publications STEVEN SCHERER has written about Middle Aged.
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0.440
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Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy. J Peripher Nerv Syst. 2024 Sep; 29(3):363-367.
Score: 0.058
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Optic Neuropathy in Charcot-Marie-Tooth Disease. J Neuroophthalmol. 2021 06 01; 41(2):233-238.
Score: 0.047
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Comparing the clinical utility of pharmacogenomic genotyping and next generation sequencing in a military health system adult medicine clinic. Pharmacogenomics. 2024; 25(16-18):637-645.
Score: 0.015
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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2025 Jan 07; 148(1):238-251.
Score: 0.015
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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain. 2025 Jan 07; 148(1):227-237.
Score: 0.015
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A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. J Peripher Nerv Syst. 2024 Jun; 29(2):202-212.
Score: 0.014
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Vision Loss as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy: A Case Series. J Neuroophthalmol. 2023 03 01; 43(1):48-54.
Score: 0.013
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Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity. J Clin Endocrinol Metab. 2021 10 21; 106(11):e4652-e4665.
Score: 0.012
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Pharmacogenomics of Nicotine Metabolism: Novel CYP2A6 and CYP2B6 Genetic Variation Patterns in Alaska Native and American Indian Populations. Nicotine Tob Res. 2020 May 26; 22(6):910-918.
Score: 0.011
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A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. 2020 03 03; 94(9):e884-e896.
Score: 0.011
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Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol. 2019 03; 85(3):316-330.
Score: 0.010
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Whole-Organ Genomic Characterization of Mucosal Field Effects Initiating Bladder Carcinogenesis. Cell Rep. 2019 02 19; 26(8):2241-2256.e4.
Score: 0.010
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A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscul Disord. 2019 02; 29(2):134-137.
Score: 0.010
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Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide. Pharmacogenet Genomics. 2018 11; 28(11):251-255.
Score: 0.010
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Blood pressure signature genes and blood pressure response to thiazide diuretics: results from the PEAR and PEAR-2 studies. BMC Med Genomics. 2018 Jun 20; 11(1):55.
Score: 0.010
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Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients From the PEAR Study (Pharmacogenomic Evaluation of Antihypertensive Responses). Circ Genom Precis Med. 2018 04; 11(4):e001854.
Score: 0.009
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018 03 01; 102(3):505-514.
Score: 0.009
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Whole Transcriptome Sequencing Analyses Reveal Molecular Markers of Blood Pressure Response to Thiazide Diuretics. Sci Rep. 2017 11 22; 7(1):16068.
Score: 0.009
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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 2017 Aug 29; 89(9):927-935.
Score: 0.009
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Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve. 2018 02; 57(2):255-259.
Score: 0.009
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Assessing the impact of FoxP3 and Vav1 gene polymorphisms on kidney allograft survival. HLA. 2017 08; 90(2):102-105.
Score: 0.009
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Genome-Wide Prioritization and Transcriptomics Reveal Novel Signatures Associated With Thiazide Diuretics Blood Pressure Response. Circ Cardiovasc Genet. 2017 Jan; 10(1).
Score: 0.009
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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016 09 01; 99(3):607-623.
Score: 0.008
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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016 05 10; 86(19):1762-71.
Score: 0.008
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De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain. 2016 06; 139(Pt 6):1649-56.
Score: 0.008
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Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma. Neurology. 1996 Mar; 46(3):822-4.
Score: 0.008
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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain. 2015 Nov; 138(Pt 11):3180-92.
Score: 0.008
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A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 2015 May 19; 84(20):2040-7.
Score: 0.008
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No impact of KIR-ligand mismatch on allograft outcome in HLA-compatible kidney transplantation. Am J Transplant. 2013 Apr; 13(4):1063-1068.
Score: 0.007
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Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hear Res. 2012 Oct; 292(1-2):51-8.
Score: 0.006
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Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010 Mar 12; 86(3):343-52.
Score: 0.005
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Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010 Feb 09; 55(6):587-97.
Score: 0.005
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Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009 May; 84(5):617-27.
Score: 0.005
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Reassessing the impact of donor HLA-C genotype on long-term liver transplant survival. Am J Transplant. 2009 Jul; 9(7):1674-8.
Score: 0.005
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Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009 Feb; 132(Pt 2):426-38.
Score: 0.005
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Understanding the development of human bladder cancer by using a whole-organ genomic mapping strategy. Lab Invest. 2008 Jul; 88(7):694-721.
Score: 0.005
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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet. 2007 Oct 15; 16(20):2453-62.
Score: 0.004
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Evidence for alternative candidate genes near RB1 involved in clonal expansion of in situ urothelial neoplasia. Lab Invest. 2006 Feb; 86(2):175-90.
Score: 0.004
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T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006 Feb; 59(2):358-64.
Score: 0.004
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Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004. Genet Med. 2005 Jul-Aug; 7(6):454-5.
Score: 0.004
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Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 Jul 01; 107(25):3184-90.
Score: 0.003
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Genetic mapping and DNA sequence-based analysis of deleted regions on chromosome 16 involved in progression of bladder cancer from occult preneoplastic conditions to invasive disease. Oncogene. 2001 Aug 16; 20(36):5005-14.
Score: 0.003
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Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression. Lab Invest. 2001 Jul; 81(7):1039-48.
Score: 0.003