STEVEN SCHERER to Humans
This is a "connection" page, showing publications STEVEN SCHERER has written about Humans.
Connection Strength
0.482
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Experiences in providing a community educational resource for the All of Us Researcher Workbench. J Am Med Inform Assoc. 2024 Dec 01; 31(12):2952-2957.
Score: 0.026
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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: 0.025
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Optic Neuropathy in Charcot-Marie-Tooth Disease. J Neuroophthalmol. 2021 06 01; 41(2):233-238.
Score: 0.020
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A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes. Neuron Glia Biol. 2010 Nov; 6(4):213-23.
Score: 0.010
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A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol. 2009 Dec; 66(6):759-70.
Score: 0.009
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Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct. J Neurosci Res. 2008 Apr; 86(5):992-1006.
Score: 0.008
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Pannexin1 is expressed by neurons and glia but does not form functional gap junctions. Glia. 2007 Jan 01; 55(1):46-56.
Score: 0.007
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The finished DNA sequence of human chromosome 12. Nature. 2006 03 16; 440(7082):346-51.
Score: 0.007
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Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells. J Neurosci. 2005 Aug 03; 25(31):7111-20.
Score: 0.007
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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: 0.006
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Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. J Neurosci. 2005 Feb 09; 25(6):1550-9.
Score: 0.006
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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2025 Jan 07; 148(1):238-251.
Score: 0.006
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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: 0.006
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The GENESIS database and tools: A decade of discovery in Mendelian genomics. Exp Neurol. 2024 Dec; 382:114978.
Score: 0.006
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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: 0.006
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Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample. Sci Rep. 2024 03 16; 14(1):6385.
Score: 0.006
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Disparities in Genetic Testing for Neurologic Disorders. Neurology. 2024 Mar 26; 102(6):e209161.
Score: 0.006
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The genomic and evolutionary landscapes of anaplastic thyroid carcinoma. Cell Rep. 2024 03 26; 43(3):113826.
Score: 0.006
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Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure. Neurology. 2024 Feb 13; 102(3):e207963.
Score: 0.006
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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 10 03; 146(10):4336-4349.
Score: 0.006
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Genomic analysis of two phlebotomine sand fly vectors of Leishmania from the New and Old World. PLoS Negl Trop Dis. 2023 04; 17(4):e0010862.
Score: 0.006
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An efficient genotyper and star-allele caller for pharmacogenomics. Genome Res. 2023 01; 33(1):61-70.
Score: 0.006
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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: 0.006
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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: 0.006
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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. J Med Genet. 2023 06; 60(6):547-556.
Score: 0.005
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Variants in genes coding for collagen type IV a-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 03; 38(3):687-695.
Score: 0.005
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Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genet Med. 2022 05; 24(5):1062-1072.
Score: 0.005
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Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes. Pharmacogenet Genomics. 2022 06 01; 32(4):159-172.
Score: 0.005
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CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. J Mol Diagn. 2022 04; 24(4):337-350.
Score: 0.005
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Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing? J Mol Diagn. 2022 03; 24(3):253-261.
Score: 0.005
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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: 0.005
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A High-throughput Approach to Identify Effective Systemic Agents for the Treatment of Anaplastic Thyroid Carcinoma. J Clin Endocrinol Metab. 2021 09 27; 106(10):2962-2978.
Score: 0.005
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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: 0.005
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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: 0.005
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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: 0.005
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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: 0.005
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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: 0.004
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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: 0.004
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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: 0.004
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Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. J Neuromuscul Dis. 2019; 6(2):201-211.
Score: 0.004
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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: 0.004
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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: 0.004
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Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. Genome Res. 1998 Oct; 8(10):1060-73.
Score: 0.004
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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: 0.004
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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: 0.004
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Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. Hum Mutat. 2018 05; 39(5):635-642.
Score: 0.004
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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: 0.004
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Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes. Nat Commun. 2018 02 26; 9(1):828.
Score: 0.004
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Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. Pharmacogenet Genomics. 2018 Jan; 28(1):7-16.
Score: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations. Sci Rep. 2017 01 10; 7:40166.
Score: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9.
Score: 0.004
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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016 05 10; 86(19):1762-71.
Score: 0.004
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Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy. Proc Natl Acad Sci U S A. 2016 Apr 26; 113(17):E2421-9.
Score: 0.004
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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: 0.004
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Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma. Neurology. 1996 Mar; 46(3):822-4.
Score: 0.003
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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: 0.003
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A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 2015 May 19; 84(20):2040-7.
Score: 0.003
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Stability of karyotype in serial isolates of Candida albicans from neutropenic patients. J Clin Microbiol. 1995 Apr; 33(4):794-6.
Score: 0.003
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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: 0.003
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A new mutation in GJC2 associated with subclinical leukodystrophy. J Neurol. 2014 Oct; 261(10):1929-38.
Score: 0.003
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Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Res. 2014 Jul; 24(7):1209-23.
Score: 0.003
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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan; 137(Pt 1):44-56.
Score: 0.003
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Modality-based organization of ascending somatosensory axons in the direct dorsal column pathway. J Neurosci. 2013 Nov 06; 33(45):17691-709.
Score: 0.003
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Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor. Gastroenterology. 2013 Nov; 145(5):1098-1109.e1.
Score: 0.003
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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: 0.003
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Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy. J Lipid Res. 2013 Jul; 54(7):1980-7.
Score: 0.003
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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: 0.003
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Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer. Genome Res. 2012 Nov; 22(11):2120-9.
Score: 0.003
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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: 0.003
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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: 0.003
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High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability. Cancer Discov. 2011 Jul; 1(2):170-85.
Score: 0.003
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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A. 2010 Dec 07; 107(49):21104-9.
Score: 0.002
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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: 0.002
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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: 0.002
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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: 0.002
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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: 0.002
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Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009 Feb; 132(Pt 2):426-38.
Score: 0.002
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A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. Genome Res. 2009 Feb; 19(2):167-77.
Score: 0.002
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Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008 Oct 23; 455(7216):1069-75.
Score: 0.002
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Identification of two novel HLA alleles, HLA-A*02010103 and HLA-B*4455, and characterization of the complete genomic sequence of HLA-A*290201. Tissue Antigens. 2008 Oct; 72(4):397-400.
Score: 0.002
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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: 0.002
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The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 Apr 24; 452(7190):949-55.
Score: 0.002
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Role of minor histocompatibility antigens in renal transplantation. Am J Transplant. 2008 Jan; 8(1):95-102.
Score: 0.002
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Identification and characterization of three novel HLA alleles, HLA-A*240214, HLA-A*3215 and HLA-DQB1*060302. Tissue Antigens. 2007 Dec; 70(6):511-4.
Score: 0.002
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Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 Dec; 39(12):1488-93.
Score: 0.002
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Characterization of a new HLA-B allele, HLA-B*5312, and re-evaluation of the published sequences of the untranslated regions of HLA-B*35 and HLA-B*53. Tissue Antigens. 2007 Oct; 70(4):319-23.
Score: 0.002
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Forerunner genes contiguous to RB1 contribute to the development of in situ neoplasia. Proc Natl Acad Sci U S A. 2007 Aug 21; 104(34):13732-7.
Score: 0.002
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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: 0.002
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Recurrent duplication-driven transposition of DNA during hominoid evolution. Proc Natl Acad Sci U S A. 2006 Nov 21; 103(47):17626-31.
Score: 0.002
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Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006 Sep 15; 99(6):646-55.
Score: 0.002
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The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27; 440(7088):1194-8.
Score: 0.002
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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: 0.002
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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: 0.002
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Description and characterization of two new HLA alleles, B*4051 and DRB1*1364, identified by sequence-based typing. Tissue Antigens. 2005 Aug; 66(2):151-5.
Score: 0.002
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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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Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 Jul 01; 107(25):3184-90.
Score: 0.001
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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: 0.001
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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: 0.001
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Experimental annotation of the human genome using microarray technology. Nature. 2001 Feb 15; 409(6822):922-7.
Score: 0.001
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A physical map of the human genome. Nature. 2001 Feb 15; 409(6822):934-41.
Score: 0.001
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A high-resolution map of human chromosome 12. Nature. 2001 Feb 15; 409(6822):945-6.
Score: 0.001
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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: 0.001
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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: 0.001
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A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet. 1998 Dec; 20(4):358-61.
Score: 0.001
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Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24; 262(5142):2039-42.
Score: 0.001