Mark Bennett

Genes4Epilepsy: An epilepsy gene resource.

Karen L Oliver, Ingrid E Scheffer, Mark F Bennett, Bronwyn E Grinton, Melanie Bahlo, Samuel F Berkovic

Journal article  |  2023  |  Epilepsia

OBJECTIVE: "How many epilepsy genes are there?" is a frequently asked question. We sought to (1) provide a curated list of genes t..

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development(jan, 10.1038/s41380022-01764-8, 2023)

Antony Kaspi, Michael S Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, et al.

Journal article  |  2023  |  MOLECULAR PSYCHIATRY

Wording was altered for the discussion. Only two probands (11%) with genetic diagnoses (SETD1B (ID10), ERF (ID18)) had CAS without..

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Haloom Rafehi, Justin Read, David J Szmulewicz, Kayli C Davies, Penny Snell, Liam G Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F Bennett, Jacob E Munro, Kathie J Ngo, Luke Chen, Mathew J Wallis, Ernest G Butler, Kishore R Kumar, Kathy Hc Wu, Susan E Tomlinson, Stephen Tisch, et al.

Journal article  |  2023  |  Am J Hum Genet

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular dia..

A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

Bronwyn E Grinton, Erandee Robertson, Liam G Fearnley, Ingrid E Scheffer, Anthony G Marson, Terence J O'Brien, W Owen Pickrell, Mark Rees, Sanjay M Sisodiya, David J Balding, Mark F Bennett, Melanie Bahlo, Samuel F Berkovic, Karen L Oliver

Journal article  |  2022  |  AMERICAN JOURNAL OF HUMAN GENETICS

Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant familial epilepsy syndrome characterized by distincti..

Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes.

Zimeng Ye, Mark F Bennett, Andrew Neal, Joshua A Laing, Martin K Hunn, Thanomporn Wittayacharoenpong, Marian Todaro, Sheila K Patel, Melanie Bahlo, Patrick Kwan, Terence J O'Brien, Ingrid E Scheffer, Samuel F Berkovic, Piero Perucca, Michael S Hildebrand

Journal article  |  2022  |  Neurology

BACKGROUND AND OBJECTIVES: Mosaic pathogenic variants restricted to brain are increasingly recognized as a cause of focal epilepsi..

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Antony Kaspi, Michael S Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, et al.

Journal article  |  2022  |  MOLECULAR PSYCHIATRY

Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and plan..

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Zimeng Ye, Sufang Lin, Xia Zhao, Mark F Bennett, Natasha J Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, et al.

Journal article  |  2022  |  HUMAN MUTATION

Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10..

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

Egor Dolzhenko, Ben Weisburd, Kristina Ibanez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A Richmond, Christopher T Saunders, Konrad Scheffler, Joke JFA van Vugt, et al.

Journal article  |  2022  |  GENOME MEDICINE

BACKGROUND: Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral..

Connecting omics signatures and revealing biological mechanisms with iLINCS.

Marcin Pilarczyk, Mehdi Fazel-Najafabadi, Michal Kouril, Behrouz Shamsaei, Juozas Vasiliauskas, Wen Niu, Naim Mahi, Lixia Zhang, Nicholas A Clark, Yan Ren, Shana White, Rashid Karim, Huan Xu, Jacek Biesiada, Mark F Bennett, Sarah E Davidson, John F Reichard, Kurt Roberts, Vasileios Stathias, Amar Koleti, et al.

Journal article  |  2022  |  Nat Commun

There are only a few platforms that integrate multiple omics data types, bioinformatics tools, and interfaces for integrative anal..

Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment

LG Fearnley, MF Bennett, M Bahlo

Journal article  |  2022  |  SCIENTIFIC REPORTS

Bioinformatic methods for detecting short tandem repeat expansions in short-read sequencing have identified new repeat expansions ..