Author details

Full Name

Mark F Bennett

Affiliation

ORCID

Career Start Year

2017

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36658335	Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.		2023
36117209	Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.	Molecular Psychiatry	2023
37733280	Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.		2023
36960686	Pentanucleotide repeat-related disorders: Genetics and bioinformatic discovery and detection.		2023
37267898	An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.	Am J Hum Genet	2023
36493768	An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.	Am J Hum Genet	2023
36808730	Genes4Epilepsy: An epilepsy gene resource.		2023
35137044	Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.	Hum Mol Genet	2022
35907931	Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment.	Scientific Reports	2022
35906014	Clinical impact of whole-genome sequencing in patients with early-onset dementia.	Journal of Neurology, Neurosurgery and Psychiatry	2022
36288729	A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.	Am J Hum Genet	2022
35948990	REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.	Genome Med	2022
35945222	Connecting omics signatures and revealing biological mechanisms with iLINCS.	Nat Commun	2022
36192176	Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes.	Neurology	2022
35786744	Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.	Brain	2022
35034092	Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.	European Journal of Human Genetics	2022
35097204	Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.	Neurology: Genetics	2022
34519595	Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies.	Expert Review of Neurotherapeutics	2021
34002542	Loss-of-function variants in K 11.1 cardiac channels as a biomarker for SUDEP.	Annals of Clinical and Translational Neurology	2021
34038384	Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.	Neurology	2021
33207017	Transcriptome analysis of a ring chromosome 20 patient cohort.	Epilepsia	2021
33144681	NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.	Genet Med	2021
32973343	Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.	Eur J Hum Genet	2021
33421703	Contribution of rare genetic variants to drug response in absence epilepsy.	Epilepsy Research	2021
33058759	Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.	Am J Hum Genet	2020
32203200	Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.	European Journal of Human Genetics	2020
32345345	ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.	Genome Biol	2020
31440733	Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.	Epilepsia Open	2019
31664034	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.	Nat Commun	2019
30541864	encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.	Neurology	2019
29160035	Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.	American Journal of Medical Genetics, Part A	2018
29345059	MicroRNA networks associated with active systemic juvenile idiopathic arthritis regulate CD163 expression and anti-inflammatory functions in macrophages through two distinct mechanisms.	Journal of Leukocyte Biology	2018
29946432	Recent advances in the detection of repeat expansions with short-read next-generation sequencing.	F1000Research	2018
30503517	Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.	American Journal of Human Genetics	2018
28582527	Transcriptional profiles of JIA patient blood with subsequent poor response to methotrexate.	Rheumatology	2017