STEVEN SCHERER to Phenotype
This is a "connection" page, showing publications STEVEN SCHERER has written about Phenotype.
Connection Strength
0.242
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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: 0.088
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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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Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system. Exp Neurol. 2023 02; 360:114277.
Score: 0.025
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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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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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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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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