Martin Breuss

2015-2020 School of Medicine University of Colorado Anschutz Medical Campus, Denver, Aurora, CO 
"Martin Breuss"
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Breuss MW, Yang X, Gleeson JG. (2021) Sperm mosaicism: implications for genomic diversity and disease. Trends in Genetics : Tig
Ghosh SG, Breuss MW, Schlachetzki Z, et al. (2021) Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. European Journal of Human Genetics : Ejhg
Chai G, Webb A, Li C, et al. (2020) Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron
Ghosh SG, Scala M, Beetz C, et al. (2020) A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European Journal of Human Genetics : Ejhg
Garcia CAB, Carvalho SCS, Yang X, et al. (2020) mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. Epilepsia Open. 5: 97-106
Breuss MW, Antaki D, George RD, et al. (2019) Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nature Medicine
Ghosh SG, Wang L, Breuss MW, et al. (2019) Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly. Journal of Medical Genetics
Breuss MW, Nguyen A, Song Q, et al. (2018) Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. American Journal of Human Genetics
Schaffer AE, Breuss MW, Caglayan AO, et al. (2018) Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics
Breuss MW, Nguyen T, Srivatsan A, et al. (2016) Uner Tan Syndrome Caused by a Homozygous TUBB2B Mutation Affecting Microtubule Stability. Human Molecular Genetics
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