Publications by authors named "Melanie Bahlo"

100Publications

Transcriptome analysis of a ring chromosome 20 patient cohort.

Epilepsia 2020 Nov 18. Epub 2020 Nov 18.

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

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http://dx.doi.org/10.1111/epi.16766DOI Listing
November 2020

SNP barcodes provide higher resolution than microsatellite markers to measure Plasmodium vivax population genetics.

Malar J 2020 Oct 20;19(1):375. Epub 2020 Oct 20.

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1186/s12936-020-03440-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576724PMC
October 2020

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

Am J Hum Genet 2020 Nov 14;107(5):977-988. 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
November 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

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

Nat Commun 2020 06 19;11(1):3150. Epub 2020 Jun 19.

The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.

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http://dx.doi.org/10.1038/s41467-020-16819-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305203PMC
June 2020

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Neurology 2020 05 28;94(20):e2148-e2167. Epub 2020 Apr 28.

From the Department of Medicine (M.S.H., M.C., K.A.R., I.E.S.), The University of Melbourne, Austin Health, Heidelberg; Population Health and Immunity Division (V.E.J., T.S.S., M.B.), The Walter and Eliza Hall Institute of Medical Research; Departments of Medical Biology (V.E.J., T.S.S., M.B.) and Audiology and Speech Pathology (R.O.B., A.T.M.) and Department of Paediatrics, The Royal Children's Hospital (B.P.-F., G.P., M.H., D.J.A., I.E.S.), The University of Melbourne; Speech and Language (O.V.R., R.O.B., S.T., S.B., S.R., A.T.M.), Murdoch Children's Research Institute (M.S.H., D.J.A., I.E.S.); Victorian Clinical Genetics Services (A. Boys, M.D.), Parkville, Victoria; Department of Neurology (R.W.) and Clinical Genetics (A.M.), The Children's Hospital Westmead; Department of Paediatrics (M.F., K.S.), Monash University; Monash Children's Hospital (K.S.), Clayton, Victoria; The Wesley Hospital (D.C.), Auchenflower, Queensland; Hunter Genetics (H.G., A. Baxter), John Hunter Hospital, New Lambton Heights; Melbourne Children's Clinic (N.D.), Victoria; Griffith University (S.R.), Mount Gravatt, Queensland, Australia; UCL Great Ormond Street Institute of Child Health (F.J.L.), London, UK; Florey Institute of Neuroscience and Mental Health (A.C., I.E.S.), Parkville, Victoria; South Australian Health and Medical Research Institute (J.G.), Robinson Research Institute and Adelaide Medical School, University of Adelaide, South Australia; Language and Genetics Department (S.E.F.), Max Planck Institute for Psycholinguistics; and Donders Institute for Brain, Cognition and Behaviour (S.E.F.), Radboud University, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000009441DOI Listing
May 2020

The Genetics of Epilepsy.

Annu Rev Genomics Hum Genet 2020 Aug 27;21:205-230. Epub 2020 Apr 27.

Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Melbourne, Victoria 3084, Australia; email:

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http://dx.doi.org/10.1146/annurev-genom-120219-074937DOI Listing
August 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

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.

N Engl J Med 2019 10 11;381(15):1422-1433. Epub 2019 Sep 11.

From the Lowy Medical Research Institute (M.L.G., K.E., R.F., J.T., S.G., S.H.-P., Y.I., L. Scheppke, M.I.D., M.K., M. Friedlander), University of California, San Diego (M.W., M.K.H., M. Baldini, M.G.B., C.M.M.), Scripps Research Institute (S.H.-P., Y.I., M.K., M. Friedlander), and Scripps Clinic Medical Group (M. Friedlander), La Jolla, and Point Loma Nazarene University, San Diego (M.I.D.) - all in California; Moran Eye Center, University of Utah, Salt Lake City (L. Sauer, B.J.H., P.S.B.); Moorfields Eye Hospital (T.F.C.H., C.E.) and University College London Institute of Ophthalmology (S.M.W., M. Fruttiger), London; Columbia University, New York (C.C., T.N., R.A.); Walter and Eliza Hall Institute of Medical Research, Parkville, VIC (R.B., M. Bahlo), Royal Victorian Eye and Ear Hospital (M.O.) and University of Melbourne Centre for Eye Research (R.G.), Melbourne, VIC, and the Save Sight Institute, University of Sydney, Sydney (M.G.) - all in Australia; and Massachusetts General Hospital, Boston (F.E.).

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http://www.nejm.org/doi/10.1056/NEJMoa1815111
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http://dx.doi.org/10.1056/NEJMoa1815111DOI Listing
October 2019

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.

Stem Cell Res 2019 08 1;39:101516. Epub 2019 Aug 1.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101516DOI Listing
August 2019

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia.

Anesthesiology 2019 11;131(5):974-982

From Department of Anaesthesiology, Waikato Clinical Campus, University of Auckland, Hamilton, New Zealand (J.W.S.) Department of Anaesthesia and Pain Management, Royal Melbourne Hospital, Melbourne, Australia (K.L.) Centre for Integrated Critical Care (K.L.) Department of Pharmacology and Therapeutics (K.L.) Department of Paediatrics (A.J.D., D.J.A., P.J.L.) Department of Medical Biology (M.B.), The University of Melbourne, Melbourne, Australia Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia (K.L.) Department of Anaesthesia, Royal Children's Hospital, Melbourne, Australia (A.J.D.) Murdoch Children's Research Institute, Melbourne, Australia (A.J.D., D.J.A.) Royal Children's Hospital, Melbourne, Australia (D.J.A.) Population Health and Immunity Division (P.D., M.B.) Bioinformatics Division (V.L.), The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Australia (P.J.L.).

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http://dx.doi.org/10.1097/ALN.0000000000002877DOI Listing
November 2019

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.

Parkinsonism Relat Disord 2019 07 22;64:308-311. Epub 2019 Mar 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, 3052, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.013DOI Listing
July 2019

Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data.

F1000Res 2018 15;7:1297. Epub 2018 Aug 15.

Population Health and Immunity, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.

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https://f1000research.com/articles/7-1297/v1
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http://dx.doi.org/10.12688/f1000research.15809.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124389PMC
November 2019

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.

BMC Med Genomics 2018 Dec 18;11(1):121. Epub 2018 Dec 18.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9054, New Zealand.

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https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s1
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http://dx.doi.org/10.1186/s12920-018-0440-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299523PMC
December 2018

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

dtangle: accurate and robust cell type deconvolution.

Bioinformatics 2019 06;35(12):2093-2099

Department of Statistics, University of Michigan, Ann Arbor, MI, USA.

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https://academic.oup.com/bioinformatics/advance-article/doi/
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http://dx.doi.org/10.1093/bioinformatics/bty926DOI Listing
June 2019

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.

Epilepsia 2018 08 4;59(8):e125-e129. Epub 2018 Jul 4.

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

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http://dx.doi.org/10.1111/epi.14506DOI Listing
August 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

Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens.

PLoS Genet 2018 05 23;14(5):e1007279. Epub 2018 May 23.

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1007279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988311PMC
May 2018

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of .

Ann Clin Transl Neurol 2017 12 7;4(12):859-864. Epub 2017 Nov 7.

Bruce Lefroy Centre for Genetic Health Research Murdoch Childrens Research Institute Parkville Victoria 3052 Australia.

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http://dx.doi.org/10.1002/acn3.487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740235PMC
December 2017

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

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

Eur J Med Genet 2017 Aug 8;60(8):437-443. Epub 2017 Jun 8.

Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.06.002DOI Listing
August 2017

brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets.

Genome Med 2017 06 8;9(1):55. Epub 2017 Jun 8.

Population Health and Immunity Divison, The Walter and Eliza Hall Institute of Medical Research, 1G Royale Parade, 3052, Parkville, Australia.

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http://dx.doi.org/10.1186/s13073-017-0444-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465565PMC
June 2017

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.

Epilepsy Res 2017 03 4;131:9-14. Epub 2017 Feb 4.

Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.01.012DOI Listing
March 2017

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

J Inherit Metab Dis 2017 03 19;40(2):261-269. Epub 2016 Dec 19.

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, KRI, Level 3, Locked Bag 4001, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s10545-016-0010-6DOI Listing
March 2017

Heterozygous mutations in cause juvenile peroxisomal D-bifunctional protein deficiency.

Neurol Genet 2016 Dec 18;2(6):e114. Epub 2016 Oct 18.

Murdoch Childrens Research Institute (D.J.A., A.P.L.M., G.G., M.B.D., K.P., R.J.L., P.J.L.), Royal Children's Hospital (D.J.A., M.B.D., R.J.L.), Parkville; Department of Paediatrics (D.J.A., A.P.L.M., M.B.D., C.B., R.J.L., P.J.L.), Department of Medical Biology (R.T., M.B.), The University of Melbourne; Department of Medicine (Neuroscience) (E.S.), Central Clinical School, Monash University; and Population Health and Immunity Division (R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413PMC
December 2016

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Neurology 2016 Nov 12;87(19):1975-1984. Epub 2016 Oct 12.

From the School of Medicine and Robinson Research Institute (M.A.C., R.C., J.G.) and School of Biological Sciences (J.G.), The University of Adelaide; Epilepsy Research Centre, Department of Medicine (S.T.B., S. Micallef, S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg; Florey Institute of Neuroscience and Mental Health (M.L., S. Maljevic, E.V.G., S.P., I.E.S.), Melbourne; Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.T.M., H.C.M.), University of Washington, Seattle; Department of Neurology (K.B.H., I.E.S.), Royal Children's Hospital; Neurosciences Group (K.B.H.), Murdoch Childrens Research Institute, Melbourne; Department of Paediatrics (K.B.H.), University of Melbourne, Royal Children's Hospital, Parkville, Australia; Department of Neurology and Epileptology (S. Maljevic, H.L.), Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; The Walter and Eliza Hall Institute of Medical Research (M.B.); Department of Medical Biology (M.B.), The University of Melbourne, Parkville; and Department of Medicine, Royal Melbourne Hospital (S.P.), The University of Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109949PMC
November 2016

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Neurology 2016 Aug 13;87(6):579-84. Epub 2016 Jul 13.

From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia; Biogen, Inc. (J.F.S.), Cambridge, MA; Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal; Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague; General University Hospital in Prague (S.K.), Czech Republic; Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK; Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston; Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research; Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada; and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977374PMC
August 2016

Evaluation of non-coding variation in GLUT1 deficiency.

Dev Med Child Neurol 2016 Dec 6;58(12):1295-1302. Epub 2016 Jun 6.

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

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http://dx.doi.org/10.1111/dmcn.13163DOI Listing
December 2016

XIBD: software for inferring pairwise identity by descent on the X chromosome.

Bioinformatics 2016 08 21;32(15):2389-91. Epub 2016 Mar 21.

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia Department of Medical Biology School of Mathematics and Statistics, University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1093/bioinformatics/btw124DOI Listing
August 2016

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

Eur Heart J 2016 Sep 22;37(33):2586-90. Epub 2016 Apr 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville 3052, Victoria, Australia Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville 3052, Victoria, Australia

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http://dx.doi.org/10.1093/eurheartj/ehw160DOI Listing
September 2016

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Neurol Genet 2016 Feb 14;2(1):e51. Epub 2016 Jan 14.

Epilepsy Research Centre (K.L.O., I.E.S., S.F.B.), Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Australia; Population Health and Immunity Division (V.L., S.F., M.B.), The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Florey Institute (I.E.S.), Melbourne, Australia; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (M.B.), University of Melbourne, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817907PMC
February 2016

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Neurol Genet 2015 Aug 16;1(2):e16. Epub 2015 Jul 16.

Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911PMC
August 2015

Mitochondrial Genome Sequence of the Scabies Mite Provides Insight into the Genetic Diversity of Individual Scabies Infections.

PLoS Negl Trop Dis 2016 Feb 12;10(2):e0004384. Epub 2016 Feb 12.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pntd.0004384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752359PMC
February 2016

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Neurology 2016 Feb 22;86(8):713-22. Epub 2016 Jan 22.

From the Sackler School of Medicine (Z.A., I.B., M.Y.N., T.L.-S., A.D.K.), Tel Aviv University, Ramat Aviv, Israel; Epilepsy Research Centre (K.L.O., K.L.H., I.E.S., S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; Epilepsy Unit (S.K., H.G.-S., R.S.), Schneider Children's Medical Center of Israel, Petach Tikvah; Department of Neurology (A.M., M.Y.N.), Tel Aviv Sourasky Medical Center; Department of Neurology (I.B.), The Chaim Sheba Medical Center, Tel Hashomer; Shaare Zedek Medical Center (A.J.M.), Jerusalem; Department of Neurology (S.W.), Western Galilee Hospital, Nahariya; Pediatric Neurology and Child Development Center (M. Mahajnah), Hillel Yaffe Medical Center, Hadera; Ruth and Bruce Rappaport Faculty of Medicine (M. Mahajnah), Technion, Haifa; Pediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon; The Edmond and Lily Safra Children's Hospital (B.B.-Z.), Sheba Medical Center, Ramat Gan; Department of Neurology (E.K.), Barzilai Medical Center, Ashkelon; Faculty of Health Sciences (E.K., R.M., Z.S.), Ben-Gurion University of the Negev, Beer-Sheva; Department of Neurology (R.M.) and Pediatric Neurology Unit (Z.S.), Soroka University Medical Center, Beer-Sheva; Pediatric Neurology Unit (U.K.), Dana Children's Hospital, Tel Aviv; Department of Neurology (D.E.), Agnes Ginges Center of Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; School of Biomedical Sciences (R.H.W.), Charles Sturt University, NSW; Queensland Brain Institute (M. Mangelsdorf), University of Queensland, Brisbane, Australia; Wessex Regional Genetics Laboratory (J.N.M.), Salisbury NHS Foundation Trust, Salisbury, UK; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Florey Institute (G.D.J., I.E.S.), Melbourne; Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute o

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http://dx.doi.org/10.1212/WNL.0000000000002404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763801PMC
February 2016

Structurally conserved erythrocyte-binding domain in Plasmodium provides a versatile scaffold for alternate receptor engagement.

Proc Natl Acad Sci U S A 2016 Jan 29;113(2):E191-200. Epub 2015 Dec 29.

The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, The University of Melbourne, Melbourne, VIC 3010, Australia;

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http://dx.doi.org/10.1073/pnas.1516512113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720341PMC
January 2016

Systematic noise degrades gene co-expression signals but can be corrected.

BMC Bioinformatics 2015 Sep 24;16:309. Epub 2015 Sep 24.

Bioinformatics Division, Walter + Eliza Hall Institute, 1G Royal Parade, Melbourne, 3050, Australia.

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http://dx.doi.org/10.1186/s12859-015-0745-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583191PMC
September 2015

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

Neuromuscul Disord 2015 Sep 13;25(9):713-8. Epub 2015 Jul 13.

Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2015.07.004DOI Listing
September 2015

Cpipe: a shared variant detection pipeline designed for diagnostic settings.

Genome Med 2015 10;7(1):68. Epub 2015 Jul 10.

Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Department of Medical Biology, The University of Melbourne, Melbourne, VIC 3010 Australia ; Melbourne Genomics Health Alliance, Melbourne, Australia ; Walter and Eliza Hall Institute, Parkville, VIC 3052 Australia.

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http://dx.doi.org/10.1186/s13073-015-0191-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515933PMC
July 2015

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.

Epilepsy Res 2015 Aug 5;114:98-105. Epub 2015 May 5.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia; Florey Institute, University of Melbourne, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2015.04.014DOI Listing
August 2015

High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA.

BMC Med Genomics 2015 Jun 17;8:29. Epub 2015 Jun 17.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Melbourne, VIC, 3052, Australia.

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http://dx.doi.org/10.1186/s12920-015-0107-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469119PMC
June 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Ann Clin Transl Neurol 2015 May 12;2(5):575-80. Epub 2015 Mar 12.

Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia.

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http://dx.doi.org/10.1002/acn3.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435711PMC
May 2015

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Eur J Med Genet 2015 Jun-Jul;58(6-7):364-8. Epub 2015 Apr 28.

Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.04.004DOI Listing
March 2016

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Neurology 2015 May 15;84(20):2029-32. Epub 2015 Apr 15.

From the Departments of Neurology (R.J.L., A.S.H.), Neurosurgery (W.M.), and Anatomical Pathology (D.M.), The Royal Children's Hospital, Melbourne; Department of Pediatrics (R.J.L., A.S.H., M.B.D., D.J.A., P.J.L.), The University of Melbourne; Bioinformatics Division (T.S., M.B.), The Walter and Eliza Hall Institute of Medical Research, Melbourne; Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., G.G., M.B.D., D.J.A., P.J.L.), Murdoch Childrens Research Institute (R.J.L., A.S.H.), Melbourne; Clinical Genetics (M.B.D.), Austin Health, Melbourne, Australia; and Shriners Hospital Pediatric Research Center (P.C.), Temple University, Philadelphia, PA.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000159
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http://dx.doi.org/10.1212/WNL.0000000000001594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442098PMC
May 2015

Plasmodium vivax populations are more genetically diverse and less structured than sympatric Plasmodium falciparum populations.

PLoS Negl Trop Dis 2015 Apr 15;9(4):e0003634. Epub 2015 Apr 15.

Division of Infection and Immunity, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pntd.0003634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398418PMC
April 2015

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
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April 2015

Using familial information for variant filtering in high-throughput sequencing studies.

Hum Genet 2014 Nov 17;133(11):1331-41. Epub 2014 Aug 17.

The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia,

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http://link.springer.com/10.1007/s00439-014-1479-4
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http://dx.doi.org/10.1007/s00439-014-1479-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185103PMC
November 2014

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.

Eur J Hum Genet 2015 Apr 6;23(4):486-93. Epub 2014 Aug 6.

1] Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/ejhg.2014.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666572PMC
April 2015

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.

Int J Stroke 2014 Aug;9(6):E26-7

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Vic., Australia; Department of Medical Biology, The University of Melbourne, Parkville, Vic., Australia.

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http://dx.doi.org/10.1111/ijs.12306DOI Listing
August 2014

Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.

PLoS One 2014 9;9(7):e102079. Epub 2014 Jul 9.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0102079PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090166PMC
December 2015

Use of copy number deletion polymorphisms to assess DNA chimerism.

Clin Chem 2014 Aug 4;60(8):1105-14. Epub 2014 Jun 4.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia;

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http://dx.doi.org/10.1373/clinchem.2013.216077DOI Listing
August 2014

Dating rare mutations from small samples with dense marker data.

Genetics 2014 Aug 30;197(4):1315-27. Epub 2014 May 30.

Department of Mathematics and Statistics, University of Melbourne, Melbourne, Victoria, 3010 Australia Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, 3052 Australia Department of Statistics, University of California, Berkeley, California 94720-3860.

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http://dx.doi.org/10.1534/genetics.114.164616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4125402PMC
August 2014

Candidate disease gene prediction using Gentrepid: application to a genome-wide association study on coronary artery disease.

Mol Genet Genomic Med 2014 Jan 13;2(1):44-57. Epub 2013 Nov 13.

School of Medicine, Deakin University Geelong, VIC, 3217, Australia ; School of Life and Environmental Sciences, Deakin University Geelong, VIC, 3217, Australia.

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http://dx.doi.org/10.1002/mgg3.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907915PMC
January 2014

Challenges of diagnostic exome sequencing in an inbred founder population.

Mol Genet Genomic Med 2013 Jul 22;1(2):71-6. Epub 2013 Apr 22.

Laboratory for Molecular Genetics, Centre for Medical Research/Western Australian Institute for Medical Research, The University of Western Australia Perth, WA, Australia.

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http://dx.doi.org/10.1002/mgg3.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865571PMC
July 2013

Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery.

PLoS One 2014 29;9(1):e86993. Epub 2014 Jan 29.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia ; Department of Mathematics and Statistics, University of Melbourne, Melbourne, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086993PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906086PMC
September 2014

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Am J Hum Genet 2014 Feb 23;94(2):209-22. Epub 2014 Jan 23.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928654PMC
February 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Eur J Hum Genet 2014 Jun 9;22(6):741-7. Epub 2013 Oct 9.

1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/ejhg.2013.229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023207PMC
June 2014

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

Am J Med Genet A 2013 Sep 5;161A(9):2321-6. Epub 2013 Aug 5.

Department of Paediatrics, The Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36055DOI Listing
September 2013