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Mauro Santibanez Koref

Newcastle University
University of Newcastle

183

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7241

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A de novo paradigm for male infertility

2021 bioRxiv
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How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.

2021 Cancers
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Sebaceous tumours: A prototypical class of skin tumour for universal germline genetic testing.

2021 British Journal of Dermatology
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Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1 / SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

2020 Genetics in Medicine
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The human coronavirus receptor ANPEP (CD13) is overexpressed in Parkinson's disease.

2020 Movement Disorders
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A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo.

2020 Nature Genetics
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Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment

2020 Molecular Neurodegeneration
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Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent to child transmission

2019 Journal of The American Academy of Dermatology
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Sequencing‐based microsatellite instability testing using as few as six markers for high throughput clinical diagnostics

2019 Human Mutation
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Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016

2019 PLOS ONE
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