Melanie Bahlo

Melanie Bahlo

UNVERIFIED PROFILE

Are you Melanie Bahlo?   Register this Author

Register author
Melanie Bahlo

Melanie Bahlo

Publications by authors named "Melanie Bahlo"

Are you Melanie Bahlo?   Register this Author

100Publications

3318Reads

34Profile Views

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.

View Article

Download full-text PDF

Source
https://f1000research.com/articles/7-1297/v1
Publisher Site
http://dx.doi.org/10.12688/f1000research.15809.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124389.2PMC
November 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.).

View Article

Download full-text PDF

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

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.

Neuron 2019 Nov 1;104(4):665-679.e8. Epub 2019 Oct 1.

Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Memory and Brain Research Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuron.2019.08.027DOI Listing
November 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.).

View Article

Download full-text PDF

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

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

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

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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

Parkinsonism Relat Disord 2019 Jul 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:

View Article

Download full-text PDF

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

dtangle: accurate and robust cell type deconvolution.

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

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/84/20/2029.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000159
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442098PMC
May 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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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;

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Nat Genet 2012 Nov 21;44(11):1188-90. Epub 2012 Oct 21.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2440DOI Listing
November 2012

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

Brain 2012 Jun;135(Pt 6):1714-23

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales, 2145, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aws108DOI Listing
June 2012

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.

Arch Neurol 2012 Apr;69(4):474-81

Institute of Genetic Medicine, Faculty of Medical Sciences and Newcastle Biomedicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2011.584DOI Listing
April 2012

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

Ann Neurol 2011 Dec;70(6):897-912

Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Department of Neurology, Brigham and Women's Hospital, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ana.22609
Publisher Site
http://dx.doi.org/10.1002/ana.22609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3247076PMC
December 2011

X chromosome association testing in genome wide association studies.

Genet Epidemiol 2011 Nov 4;35(7):664-70. Epub 2011 Aug 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/gepi.20616DOI Listing
November 2011

Analysis of genome-wide association study data using the protein knowledge base.

BMC Genet 2011 Nov 13;12:98. Epub 2011 Nov 13.

Structural and Computational Biology Division, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2156-12-98DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261104PMC
November 2011

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Genome Biol 2011 Sep 14;12(9):R85. Epub 2011 Sep 14.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2011-12-9-r85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308048PMC
September 2011

An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.

Am J Pathol 2011 Aug 2;179(2):903-14. Epub 2011 Jun 2.

Genetic Hearing Research Laboratory, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029440110040
Publisher Site
http://dx.doi.org/10.1016/j.ajpath.2011.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157152PMC
August 2011

A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.

PLoS One 2011 Mar 15;6(3):e17607. Epub 2011 Mar 15.

Genetic Hearing Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0017607PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3057978PMC
March 2011