STEVEN SCHERER to Adult
This is a "connection" page, showing publications STEVEN SCHERER has written about Adult.
Connection Strength
0.394
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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: 0.055
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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: 0.014
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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2025 Jan 07; 148(1):238-251.
Score: 0.014
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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: 0.014
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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: 0.013
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Disparities in Genetic Testing for Neurologic Disorders. Neurology. 2024 Mar 26; 102(6):e209161.
Score: 0.013
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Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure. Neurology. 2024 Feb 13; 102(3):e207963.
Score: 0.013
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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: 0.012
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Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Ann Neurol. 2023 03; 93(3):563-576.
Score: 0.012
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Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain. 2020 12 01; 143(12):3589-3602.
Score: 0.011
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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: 0.010
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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: 0.010
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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: 0.009
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Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. Clin Genet. 2019 04; 95(4):534-536.
Score: 0.009
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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: 0.009
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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: 0.009
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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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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 2017 Aug 29; 89(9):927-935.
Score: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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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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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 09; 26(9):1170-7.
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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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: 0.007
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A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 2015 May 19; 84(20):2040-7.
Score: 0.007
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A new mutation in GJC2 associated with subclinical leukodystrophy. J Neurol. 2014 Oct; 261(10):1929-38.
Score: 0.007
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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: 0.006
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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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Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. BMC Med Genomics. 2012 Feb 21; 5:7.
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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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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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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Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999 Aug; 22(4):336-45.
Score: 0.002