Connection

STEVEN SCHERER to Male

This is a "connection" page, showing publications STEVEN SCHERER has written about Male.
Connection Strength

0.424
  1. Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy. J Peripher Nerv Syst. 2024 Sep; 29(3):363-367.
    View in: PubMed
    Score: 0.039
  2. Optic Neuropathy in Charcot-Marie-Tooth Disease. J Neuroophthalmol. 2021 06 01; 41(2):233-238.
    View in: PubMed
    Score: 0.031
  3. A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol. 2009 Dec; 66(6):759-70.
    View in: PubMed
    Score: 0.014
  4. 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.
    View in: PubMed
    Score: 0.010
  5. 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.
    View in: PubMed
    Score: 0.010
  6. Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. J Neurosci. 2005 Feb 09; 25(6):1550-9.
    View in: PubMed
    Score: 0.010
  7. TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2025 Jan 07; 148(1):238-251.
    View in: PubMed
    Score: 0.010
  8. A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain. 2025 Jan 07; 148(1):227-237.
    View in: PubMed
    Score: 0.010
  9. SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights. Brain. 2024 Sep 03; 147(9):3131-3143.
    View in: PubMed
    Score: 0.010
  10. 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.
    View in: PubMed
    Score: 0.009
  11. Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure. Neurology. 2024 Feb 13; 102(3):e207963.
    View in: PubMed
    Score: 0.009
  12. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 10 03; 146(10):4336-4349.
    View in: PubMed
    Score: 0.009
  13. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history. Brain. 2023 09 01; 146(9):3826-3835.
    View in: PubMed
    Score: 0.009
  14. Vision Loss as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy: A Case Series. J Neuroophthalmol. 2023 03 01; 43(1):48-54.
    View in: PubMed
    Score: 0.009
  15. 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.
    View in: PubMed
    Score: 0.008
  16. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain. 2020 12 01; 143(12):3589-3602.
    View in: PubMed
    Score: 0.007
  17. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. 2020 03 03; 94(9):e884-e896.
    View in: PubMed
    Score: 0.007
  18. 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.
    View in: PubMed
    Score: 0.007
  19. Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol. 2019 03; 85(3):316-330.
    View in: PubMed
    Score: 0.007
  20. Whole-Organ Genomic Characterization of Mucosal Field Effects Initiating Bladder Carcinogenesis. Cell Rep. 2019 02 19; 26(8):2241-2256.e4.
    View in: PubMed
    Score: 0.007
  21. 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.
    View in: PubMed
    Score: 0.007
  22. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscul Disord. 2019 02; 29(2):134-137.
    View in: PubMed
    Score: 0.007
  23. Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide. Pharmacogenet Genomics. 2018 11; 28(11):251-255.
    View in: PubMed
    Score: 0.006
  24. 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.
    View in: PubMed
    Score: 0.006
  25. 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.
    View in: PubMed
    Score: 0.006
  26. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018 03 01; 102(3):505-514.
    View in: PubMed
    Score: 0.006
  27. Whole Transcriptome Sequencing Analyses Reveal Molecular Markers of Blood Pressure Response to Thiazide Diuretics. Sci Rep. 2017 11 22; 7(1):16068.
    View in: PubMed
    Score: 0.006
  28. Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 2017 Aug 29; 89(9):927-935.
    View in: PubMed
    Score: 0.006
  29. Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve. 2018 02; 57(2):255-259.
    View in: PubMed
    Score: 0.006
  30. Assessing the impact of FoxP3 and Vav1 gene polymorphisms on kidney allograft survival. HLA. 2017 08; 90(2):102-105.
    View in: PubMed
    Score: 0.006
  31. Genome-Wide Prioritization and Transcriptomics Reveal Novel Signatures Associated With Thiazide Diuretics Blood Pressure Response. Circ Cardiovasc Genet. 2017 Jan; 10(1).
    View in: PubMed
    Score: 0.006
  32. 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.
    View in: PubMed
    Score: 0.006
  33. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain. 2016 06; 139(Pt 6):1649-56.
    View in: PubMed
    Score: 0.005
  34. Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma. Neurology. 1996 Mar; 46(3):822-4.
    View in: PubMed
    Score: 0.005
  35. 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.
    View in: PubMed
    Score: 0.005
  36. The genomes of two key bumblebee species with primitive eusocial organization. Genome Biol. 2015 Apr 24; 16:76.
    View in: PubMed
    Score: 0.005
  37. A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 2015 May 19; 84(20):2040-7.
    View in: PubMed
    Score: 0.005
  38. 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.
    View in: PubMed
    Score: 0.005
  39. 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.
    View in: PubMed
    Score: 0.005
  40. Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Res. 2014 Jul; 24(7):1209-23.
    View in: PubMed
    Score: 0.005
  41. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan; 137(Pt 1):44-56.
    View in: PubMed
    Score: 0.005
  42. 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.
    View in: PubMed
    Score: 0.004
  43. 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.
    View in: PubMed
    Score: 0.004
  44. No impact of KIR-ligand mismatch on allograft outcome in HLA-compatible kidney transplantation. Am J Transplant. 2013 Apr; 13(4):1063-1068.
    View in: PubMed
    Score: 0.004
  45. Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hear Res. 2012 Oct; 292(1-2):51-8.
    View in: PubMed
    Score: 0.004
  46. 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.
    View in: PubMed
    Score: 0.004
  47. 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.
    View in: PubMed
    Score: 0.004
  48. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010 Feb 09; 55(6):587-97.
    View in: PubMed
    Score: 0.004
  49. 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.
    View in: PubMed
    Score: 0.003
  50. Reassessing the impact of donor HLA-C genotype on long-term liver transplant survival. Am J Transplant. 2009 Jul; 9(7):1674-8.
    View in: PubMed
    Score: 0.003
  51. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009 Feb; 132(Pt 2):426-38.
    View in: PubMed
    Score: 0.003
  52. Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008 Oct 23; 455(7216):1069-75.
    View in: PubMed
    Score: 0.003
  53. Understanding the development of human bladder cancer by using a whole-organ genomic mapping strategy. Lab Invest. 2008 Jul; 88(7):694-721.
    View in: PubMed
    Score: 0.003
  54. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 Dec; 39(12):1488-93.
    View in: PubMed
    Score: 0.003
  55. 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.
    View in: PubMed
    Score: 0.003
  56. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006 Feb; 59(2):358-64.
    View in: PubMed
    Score: 0.003
  57. Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004. Genet Med. 2005 Jul-Aug; 7(6):454-5.
    View in: PubMed
    Score: 0.003
  58. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
    View in: PubMed
    Score: 0.003
  59. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 04 01; 428(6982):493-521.
    View in: PubMed
    Score: 0.002
  60. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 Jul 01; 107(25):3184-90.
    View in: PubMed
    Score: 0.002
  61. 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.
    View in: PubMed
    Score: 0.002
  62. Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression. Lab Invest. 2001 Jul; 81(7):1039-48.
    View in: PubMed
    Score: 0.002
  63. A global profile of germline gene expression in C. elegans. Mol Cell. 2000 Sep; 6(3):605-16.
    View in: PubMed
    Score: 0.002
  64. 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.
    View in: PubMed
    Score: 0.002
  65. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999 Aug; 22(4):336-45.
    View in: PubMed
    Score: 0.002
  66. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet. 1998 Dec; 20(4):358-61.
    View in: PubMed
    Score: 0.002
  67. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24; 262(5142):2039-42.
    View in: PubMed
    Score: 0.001
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.