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Melanie Bahlo
Melanie Bahlo
Theme Leader, Healthy Development and Ageing, The Walter and Eliza Hall Institute of
Zweryfikowany adres z wehi.edu.au - Strona główna
Tytuł
Cytowane przez
Cytowane przez
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IL28B is associated with response to chronic hepatitis C interferon-α and ribavirin therapy
V Suppiah, M Moldovan, G Ahlenstiel, T Berg, M Weltman, ML Abate, ...
Nature genetics 41 (10), 1100-1104, 2009
23902009
Development of plasmacytoid and conventional dendritic cell subtypes from single precursor cells derived in vitro and in vivo
SH Naik, P Sathe, HY Park, D Metcalf, AI Proietto, A Dakic, S Carotta, ...
Nature immunology 8 (11), 1217-1226, 2007
10412007
Iron-overload–related disease in HFE hereditary hemochromatosis
KJ Allen, LC Gurrin, CC Constantine, NJ Osborne, MB Delatycki, AJ Nicoll, ...
New England Journal of Medicine 358 (3), 221-230, 2008
8862008
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
Data analysis: Bahlo Melanie 2 Brown Matthew A 6 7 Browning Brian L 20 ...
Nature genetics 41 (7), 824-828, 2009
5452009
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage
KR Smith, J Damiano, S Franceschetti, S Carpenter, L Canafoglia, ...
The American Journal of Human Genetics 90 (6), 1102-1107, 2012
5152012
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, ...
Nature genetics 44 (11), 1188-1190, 2012
4212012
Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci
NA Patsopoulos, ...
Annals of neurology 70 (6), 897-912, 2011
3672011
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
SF Berkovic, LM Dibbens, A Oshlack, JD Silver, M Katerelos, DF Vears, ...
The American Journal of Human Genetics 82 (3), 673-684, 2008
3102008
Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26
SA Treloar, J Wicks, DR Nyholt, GW Montgomery, M Bahlo, V Smith, ...
The American Journal of Human Genetics 77 (3), 365-376, 2005
3052005
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia—MLASA syndrome
LG Riley, S Cooper, P Hickey, J Rudinger-Thirion, M McKenzie, ...
The American Journal of Human Genetics 87 (1), 52-59, 2010
2842010
The Tasmanian devil transcriptome reveals Schwann cell origins of a clonally transmissible cancer
EP Murchison, C Tovar, A Hsu, HS Bender, P Kheradpour, CA Rebbeck, ...
Science 327 (5961), 84-87, 2010
2832010
Inference from gene trees in a subdivided population
M Bahlo, RC Griffiths
Theoretical Population Biology 57 (2), 79-95, 2000
2562000
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2522019
An α‐E‐catenin (CTNNA1) mutation in hereditary diffuse gastric cancer
IJ Majewski, I Kluijt, A Cats, TS Scerri, D de Jong, RJC Kluin, S Hansford, ...
The Journal of pathology 229 (4), 621-629, 2013
2482013
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology
GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ...
The American Journal of Human Genetics 95 (6), 729-735, 2014
2422014
Identification and analysis of error types in high-throughput genotyping
KR Ewen, M Bahlo, SA Treloar, DF Levinson, B Mowry, JW Barlow, ...
The American Journal of Human Genetics 67 (3), 727-736, 2000
2342000
Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS
H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ...
The American Journal of Human Genetics 105 (1), 151-165, 2019
2232019
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ...
Nature genetics 46 (11), 1239-1244, 2014
2232014
Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data
S Freytag, L Tian, I Lönnstedt, M Ng, M Bahlo
F1000Research 7, 2018
2212018
A Cav3. 2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy
KL Powell, SM Cain, C Ng, S Sirdesai, LS David, M Kyi, E Garcia, ...
Journal of Neuroscience 29 (2), 371-380, 2009
2062009
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