Publications by authors named "Mark F Bennett"

14Publications

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Am J Hum Genet 2020 Oct 14. Epub 2020 Oct 14.

Instituto de Investigaciones Biomédicas "Alberto Sols," Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.09.005DOI Listing
October 2020

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.

Eur J Hum Genet 2020 Sep 24. Epub 2020 Sep 24.

Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

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http://dx.doi.org/10.1038/s41431-020-00729-1DOI Listing
September 2020

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

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 01 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

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

Am J Hum Genet 2018 12 29;103(6):858-873. Epub 2018 Nov 29.

Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia; Department of Medical Biology, The University of Melbourne, Melbourne 3010, VIC, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288141PMC
December 2018

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

F1000Res 2018 13;7. Epub 2018 Jun 13.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.12688/f1000research.13980.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008857PMC
June 2018

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

Am J Med Genet A 2018 01 21;176(1):230-234. Epub 2017 Nov 21.

Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38549DOI Listing
January 2018