Michael J. Friez

Affiliations: 
Genetics and Biochemistry Clemson University, Clemson, SC, United States 
Area:
Genetics, Bioinformatics Biology
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"Michael Friez"
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Publications

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Cooley Coleman JA, Fee T, Bend R, et al. (2022) Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. American Journal of Medical Genetics. Part A
Fang X, Butler KM, Abidi F, et al. (2022) Analysis of X-inactivation status in a Rett syndrome natural history study cohort. Molecular Genetics & Genomic Medicine. e1917
Wang J, Foroutan A, Richardson E, et al. (2022) Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European Journal of Human Genetics : Ejhg
Mikhael S, Dugar S, Morton M, et al. (2021) Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome. Human Genetics
Fang X, Butler K, Abidi F, et al. (2021) Analysis of X-inactivation status in a Rett syndrome natural history study cohort Molecular Genetics and Metabolism. 132: S239
Mohrien C, Schwartz C, Friez M, et al. (2021) KDM5C gene variant and non-syndromic X-linked intellectual disability: an updated case report Molecular Genetics and Metabolism. 132: S195
Ziats CA, Patterson WG, Friez M. (2020) Syndromic Autism Revisited: Review of the Literature and Lessons Learned. Pediatric Neurology. 114: 21-25
Louie RJ, Collins DL, Friez MJ, et al. (2020) Schimke XLID syndrome results from a deletion in BCAP31. American Journal of Medical Genetics. Part A
Aref-Eshghi E, Kerkhof J, Pedro VP, et al. (2020) Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. American Journal of Human Genetics
Louie RJ, Friez MJ, Skinner C, et al. (2019) Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12. American Journal of Medical Genetics. Part A
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