Mark Bennett

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, Brett Trost, Sai Chen, Joke JFA van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G Gainullin, Andrew M Gross, Bryan R Lajoie, Ryan J Taft, Wyeth W Wasserman, Stephen W Scherer, Jan H Veldink, David R Bentley, Ryan KC Yuen, Melanie Bahlo, Michael A Eberle

Journal article  |  2020  |  Genome Biology

Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be ..

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

Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo

Journal article  |  2020  |  European Journal of Human Genetics

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

Carol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey MG Ragagnin, Zac Chatterton, Francine Carew-Jones, Claire E Shepherd, Holly Stefen, Esmeralda Paric, Thomas Fath, Elizabeth M Thompson, Peter Blumbergs, Cathy L Short, Colin D Field, Peter K Panegyres, Jane Hecker, Garth Nicholson, Alex D Shaw, Janice M Fullerton, Agnes A Luty, et al.

Journal article  |  2020  |  Brain

Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically overlapping disorders with shared gene..

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

Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, et al.

Journal article  |  2019  |  Nature Communications

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and ..

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

Rahel T Florian, Florian Kraft, Elsa Leitao, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kuehnel, Christopher Schroeder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, AnaiDe lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, et al.

Journal article  |  2019  |  Nature Communications

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. In..

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, et al.

Journal article  |  2019  |  Epilepsia Open

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..

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

Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara LM Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle, Maria Garcia Barcina, David P Breen, Andrew M Chancellor, Phillip D Cremer, Martin B Delatycki, Brent L Fogel, Anna Hackett, G Michael Halmagyi, Solange Kapetanovic, Anthony Lang, et al.

Journal article  |  2019  |  The American Journal of Human Genetics

SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy

Danique RM Vlaskamp, Benjamin J Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T Myers, Mark F Bennett, Wenshu XiangWei, Danielle Williams, Saskia M Maas, Alice S Brooks, Grazia MS Mancini, Ingrid MBH van de Laar, Johanna M van Hagen, Tyson L Ware, Richard I Webster, Stephen Malone, Samuel F Berkovic, Renate M Kalnins, et al.

Journal article  |  2019  |  Neurology

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

Rick M Tankard, Mark E Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo

Journal article  |  2018  |  The American Journal of Human Genetics

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

Do Thuy, Rachel Tan, Mark Bennett, Mario Medvedovic, Alexei A Grom, Nan Shen, Sherry Thornton, Grant S Schulert

Journal article  |  2018  |  Journal of Leukocyte Biology

Systemic juvenile idiopathic arthritis (SJIA) is a severe childhood arthropathy with features of autoinflammation. Monocytes and m..

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer

Journal article  |  2018  |  American Journal of Medical Genetics Part A

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

Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart

Journal article  |  2018  |  F1000Research

Short tandem repeats (STRs), also known as microsatellites, are commonly defined as consisting of tandemly repeated nucleotide mot..

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

Halima Moncrieffe, Mark F Bennett, Monica Tsoras, Lorie K Luyrink, Anne L Johnson, Huan Xu, Jason Dare, Mara L Becker, Sampath Prahalad, Margalit Rosenkranz, Kathleen M O'Neil, Peter A Nigrovic, Thomas A Griffin, Daniel J Lovell, Alexei A Grom, Mario Medvedovic, Susan D Thompson

Journal article  |  2017  |  Rheumatology

Objective: The mechanisms that determine the efficacy or inefficacy of MTX in JIA are ill-defined. The objective of this study was..

STOCHASTIC MICROHERTZ GRAVITATIONAL RADIATION FROM STELLAR CONVECTION

MF Bennett, A Melatos

Journal article  |  2014  |  Astrophysical Journal

REANALYSIS OF F-STATISTIC GRAVITATIONAL-WAVE SEARCHES WITH THE HIGHER CRITICISM STATISTIC

MF Bennett, A Melatos, A Delaigle, P Hall

Journal article  |  2013  |  Astrophysical Journal

Stochastic gravitational wave background from hydrodynamic turbulence in differentially rotating neutron stars

Paul D Lasky, Mark F Bennett, Andrew Melatos

Journal article  |  2013  |  Physical Review D

Search for gravitational waves associated with the August 2006 timing glitch of the Vela pulsar

J Abadie, BP Abbott, R Abbott, R Adhikari, P Ajith, B Allen, G Allen, E Amador Ceron, RS Amin, SB Anderson, WG Anderson, MA Arain, M Araya, Y Aso, S Aston, P Aufmuth, C Aulbert, S Babak, P Baker, S Ballmer, et al.

Journal article  |  2011  |  Phys.Rev.D

Continuous-wave gravitational radiation from pulsar glitch recovery

MF Bennett, CA van Eysden, A Melatos

Journal article  |  2010  |  Monthly Notices of the Royal Astronomical Society

ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data

Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, Brett Trost, Sai Chen, Joke JFA van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G Gainullin, Andrew Gross, Bryan Lajoie, Ryan J Taft, Wyeth W Wasserman, Stephen W Scherer, Jan H Veldink, David R Bentley, RKC Yuen, Melanie Bahlo, Michael A Eberle

Journal article

AbstractExpansions of short tandem repeats are responsible for over 40 monogenic disorders, and undoubtedly many more pathogenic r..

Connecting omics signatures of diseases, drugs, and mechanisms of actions with iLINCS

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

Journal article

AbstractiLINCS (http://ilincs.org) is an integrative web-based platform for analysis of omics data and signatures of cellular pert..