STEVEN SCHERER to Phenotype
This is a "connection" page, showing publications STEVEN SCHERER has written about Phenotype.
Connection Strength
0.588
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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: 0.090
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A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z. J Peripher Nerv Syst. 2021 06; 26(2):184-186.
Score: 0.087
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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: 0.075
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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: 0.029
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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: 0.028
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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: 0.028
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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 06; 29(2):202-212.
Score: 0.027
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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: 0.026
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Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system. Exp Neurol. 2023 02; 360:114277.
Score: 0.024
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POLG mutations presenting as Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2019 06; 24(2):213-218.
Score: 0.019
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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: 0.019
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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: 0.019
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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: 0.018
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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: 0.017
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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: 0.016
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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: 0.015
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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: 0.013
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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: 0.012
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Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009 Feb; 132(Pt 2):426-38.
Score: 0.009
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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: 0.008
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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: 0.005
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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: 0.005