STEVEN SCHERER to Male
This is a "connection" page, showing publications STEVEN SCHERER has written about Male.
Connection Strength
0.236
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Yield of next-generation neuropathy gene panels in axonal neuropathies. J Peripher Nerv Syst. 2019 12; 24(4):324-329.
Score: 0.026
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Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E. Exp Neurol. 2018 10; 308:13-25.
Score: 0.024
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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: 0.009
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Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13. Eur J Neurol. 2025 Feb; 32(2):e70084.
Score: 0.009
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Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study. J Peripher Nerv Syst. 2024 Dec; 29(4):487-493.
Score: 0.009
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SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights. Brain. 2024 Sep 03; 147(9):3131-3143.
Score: 0.009
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Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure. Neurology. 2024 02 13; 102(3):e207963.
Score: 0.009
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Reliability of the Charcot-Marie-Tooth functional outcome measure. J Peripher Nerv Syst. 2020 09; 25(3):288-291.
Score: 0.007
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Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol). Int J Epidemiol. 2020 02 01; 49(1):23-24k.
Score: 0.007
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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: 0.006
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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: 0.006
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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: 0.006
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A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. J Peripher Nerv Syst. 2018 03; 23(1):36-39.
Score: 0.006
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PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. J Clin Invest. 2018 01 02; 128(1):359-368.
Score: 0.006
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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: 0.006
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Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve. 2018 03; 57(3):388-394.
Score: 0.006
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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: 0.006
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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: 0.005
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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: 0.005
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Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma. Neurology. 1996 Mar; 46(3):822-4.
Score: 0.005
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Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy. J Neurol. 2016 Mar; 263(3):467-76.
Score: 0.005
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Differentially expressed gene transcripts using RNA sequencing from the blood of immunosuppressed kidney allograft recipients. PLoS One. 2015; 10(5):e0125045.
Score: 0.005
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The genomes of two key bumblebee species with primitive eusocial organization. Genome Biol. 2015 Apr 24; 16:76.
Score: 0.005
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A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 2015 May 19; 84(20):2040-7.
Score: 0.005
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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2015 Aug; 86(8):873-8.
Score: 0.005
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The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima. PLoS Biol. 2014 Nov; 12(11):e1002005.
Score: 0.005
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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan; 137(Pt 1):44-56.
Score: 0.004
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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet. 2013 Nov 01; 22(21):4329-38.
Score: 0.004
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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: 0.004
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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: 0.003
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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: 0.003
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Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008 Oct 23; 455(7216):1069-75.
Score: 0.003
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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: 0.003
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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: 0.003
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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: 0.002
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The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.002
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Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 04 01; 428(6982):493-521.
Score: 0.002
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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: 0.002
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Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes. Genomics. 2000 Jul 15; 67(2):109-27.
Score: 0.002