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Lista de obras de Mark F Bennett

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

scientific article published on 20 June 2019

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

artículo científico publicado en 2020

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

article by Rick M Tankard et al published 6 December 2018 in American Journal of Human Genetics

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

artículo científico publicado en 2020

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

artículo científico publicado en 2023

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

artículo científico publicado en 2024

MicroRNA networks associated with active systemic juvenile idiopathic arthritis regulate CD163 expression and anti-inflammatory functions in macrophages through two distinct mechanisms

artículo científico publicado en 2017

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

artículo científico publicado en 2017

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

artículo científico publicado en 2020

Recent advances in the detection of repeat expansions with short-read next-generation sequencing

artículo científico publicado en 2018

Transcriptional profiles of JIA patient blood with subsequent poor response to methotrexate.

artículo científico publicado en 2017

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

artículo científico publicado en 2018

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