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1. Full Text Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
by Lessel, Davor and Vaz, Bruno and Halder, Swagata and Lockhart, Paul J and Marinovic-Terzic, Ivana and Lopez-Mosqueda, Jaime and Philipp, Melanie and Sim, Joe C. H and Smith, Katherine R and Oehler, Judith and Cabrera, Elisa and Freire, Raimundo and Pope, Kate and Nahid, Amsha and Norris, Fiona and Leventer, Richard J and Delatycki, Martin B and Barbi, Gotthold and von Ameln, Simon and Högel, Josef and Degoricija, Marina and Fertig, Regina and Burkhalter, Martin D and Hofmann, Kay and Thiele, Holger and Altmüller, Janine and Nürnberg, Guun and Nürnberg, Peter and Bahlo, Melanie and Martin, George M and Aalfs, Cora M and Oshima, Junko and Terzic, Janos and Amor, David J and Dikic, Ivan and Ramadan, Kristijan and Kubisch, Christian
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 11, pp. 1239 - 1244
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene mutations | Genomics | Development and progression | Genetics | Genetic aspects | Hepatoma | Research | Health aspects | Proteins | Liver cancer | Councils | Biopsy | Genes | Colleges & universities | Aging | Mutation | Grants | Patients | Age | Deoxyribonucleic acid--DNA | Index Medicus
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2. Full Text The Genetics of Epilepsy
by Perucca, Piero and Bahlo, Melanie and Berkovic, Samuel F
Annual review of genomics and human genetics, ISSN 1527-8204, 8/2020, Volume 21, Issue 1, pp. 205 - 230
epilepsy | oligogenic models | genetics | GWAS | genome-wide association study | epilepsy genes | repeat expansions | polygenic risk scores | Family studies | Genetics | Computational neuroscience | Epilepsy | Index Medicus
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3. Full Text High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA
by Chandrananda, Dineika and Thorne, Natalie P and Bahlo, Melanie
BMC medical genomics, ISSN 1755-8794, 06/2015, Volume 8, Issue 1, pp. 29 - 29
necrosis | biomarkers | fragmentation motifs | nucleosomes | Cell-free DNA | apoptosis | extracellular DNA | higher-order chromatin packaging | fragment lengths | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | DNA - genetics | Pregnancy | Cell-Free System | Chromosomes, Human - genetics | Genomics | Humans | Female | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | DNA Cleavage | DNA - blood | Medical research | Chromatin | Pregnant women | Transplantation of organs, tissues, etc | Medicine, Experimental | Mitochondrial DNA | Research | Nucleotide sequencing | Chromosomes | DNA sequencing | Index Medicus
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4. Full Text Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
by Heron, Sarah E and Smith, Katherine R and Bahlo, Melanie and Nobili, Lino and Kahana, Esther and Licchetta, Laura and Oliver, Karen L and Mazarib, Aziz and Afawi, Zaid and Korczyn, Amos and Plazzi, Giuseppe and Petrou, Steven and Berkovic, Samuel F and Scheffer, Ingrid E and Dibbens, Leanne M
Nature genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1188 - 1190
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Cell membranes. Ionic channels. Membrane pores | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell structures and functions | Nervous system (semeiology, syndromes) | Exome | Epilepsy, Frontal Lobe - genetics | Intermediate-Conductance Calcium-Activated Potassium Channels - genetics | Pedigree | Humans | Sequence Analysis, DNA | Mutation, Missense - genetics | Gene mutations | Epilepsy | Physiological aspects | Genetic aspects | Research | Potassium channels | Health aspects | Risk factors | Genealogy | Pathogenesis | Families & family life | Kinases | State government | Proteins | Genotype & phenotype | Genetic counseling | Sodium | Councils | Infrastructure | Mutation | Age | Index Medicus
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5. Full Text Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
by Smith, Katherine R and Damiano, John and Franceschetti, Silvana and Carpenter, Stirling and Canafoglia, Laura and Morbin, Michela and Rossi, Giacomina and Pareyson, Davide and Mole, Sara E and Staropoli, John F and Sims, Katherine B and Lewis, Jada and Lin, Wen-Lang and Dickson, Dennis W and Dahl, Hans-Henrik and Bahlo, Melanie and Berkovic, Samuel F
American journal of human genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1102 - 1107
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Humans | Intercellular Signaling Peptides and Proteins - genetics | Family Health | Male | Chromosome Mapping | Dementia - genetics | Lod Score | Homozygote | Phenotype | Animals | DNA Mutational Analysis | Pedigree | Female | Heterozygote | Mice | Mutation | Genetic Linkage | Usage | Neuronal ceroid-lipofuscinosis | Gene mutations | Genetic susceptibility | Exome sequencing | Causes of | Genetic aspects | Research | Diagnosis | Nervous system diseases | Neurosciences | Analysis | Epilepsy | Genetic research | Chromosomes | Cells | Dementia | Neurodegeneration | Neurological disorders | Genetic linkage | Siblings | Index Medicus | chromosome 7 | Neuropathology | Dementia disorders | Neural stem cells | Neuronal ceroid lipofuscinosis | Frontotemporal dementia | Age | granulin | Linkage analysis | Report
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6. Full Text Dating rare mutations from small samples with dense marker data
by Gandolfo, Luke C and Bahlo, Melanie and Speed, Terence P
Genetics (Austin), ISSN 0016-6731, 2014, Volume 197, Issue 4, pp. 1315 - 1327
Mutation dating | Small samples | Linkage disequilibrium | High-density SNP data | Allele age | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | DNA Mutational Analysis | Computer Simulation | Humans | Chromosome Mapping | Models, Genetic | Polymorphism, Single Nucleotide | Genetic Loci | Genetic Markers | Mutation | Evolution, Molecular | Linkage Disequilibrium | Gene mutations | Research | Genetics | Vertical markets | Index Medicus | allele age | high-density SNP data | mutation dating | Investigations | small samples | linkage disequilibrium
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7. Full Text Development of plasmacytoid and conventional dendritic cell subtypes from single precursor cells derived in vitro and in vivo
by Shortman, Ken and Bahlo, Melanie and Kwak, Jong-Young and Park, Hae-Young and Papenfuss, Anthony and Proietto, Anna I and Dakic, Aleksander and Metcalf, Donald and Sathe, Priyanka and O'Keeffe, Meredith and Wu, Li and Carotta, Sebastian and Naik, Shalin H
Nature immunology, ISSN 1529-2908, 11/2007, Volume 8, Issue 11, pp. 1217 - 1226
Life Sciences & Biomedicine | Immunology | Science & Technology | Bone Marrow Cells - cytology | Dendritic Cells - immunology | Mice, Inbred C57BL | Cells, Cultured | Cell Differentiation - immunology | Hematopoietic Stem Cells - immunology | Animals | Flow Cytometry | Bone Marrow Cells - immunology | Hematopoietic Stem Cells - cytology | Dendritic Cells - cytology | Membrane Proteins - metabolism | Mice | In Vitro Techniques | Cell Lineage - immunology | Physiological aspects | Research | Dendritic cells | Cell differentiation | Index Medicus
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8. Full Text A cross-platform approach identifies genetic regulators of human metabolism and health
by Lotta, Luca A and Pietzner, Maik and Stewart, Isobel D and Wittemans, Laura B L and Li, Chen and Bonelli, Roberto and Raffler, Johannes and Biggs, Emma K and Oliver-Williams, Clare and Auyeung, Victoria P W and Luan, Jian'an and Wheeler, Eleanor and Paige, Ellie and Surendran, Praveen and Michelotti, Gregory A and Scott, Robert A and Burgess, Stephen and Zuber, Verena and Sanderson, Eleanor and Koulman, Albert and Imamura, Fumiaki and Forouhi, Nita G and Khaw, Kay-Tee and Griffin, Julian L and Wood, Angela M and Kastenmüller, Gabi and Danesh, John and Butterworth, Adam S and Gribble, Fiona M and Reimann, Frank and Bahlo, Melanie and Fauman, Eric and Wareham, Nicholas J and Langenberg, Claudia and MacTel Consortium
Nature genetics, ISSN 1061-4036, 01/2021, Volume 53, Issue 1, pp. 54 - 3
Regulators | Serine | Diabetes mellitus | Principal components analysis | Arrestin | Genomes | Citrulline | Metabolism | Heterogeneity | Body mass index | Pleiotropy | Body mass | Metabolites | Body size | Gene loci | Diabetes mellitus (non-insulin dependent) | Index Medicus
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9. Full Text Genome-wide analyses identify common variants associated with macular telangiectasia type 2
by Scerri, Thomas S and Quaglieri, Anna and Cai, Carolyn and Zernant, Jana and Matsunami, Nori and Baird, Lisa and Scheppke, Lea and Bonelli, Roberto and Yannuzzi, Lawrence A and Friedlander, Martin and Egan, Catherine A and Fruttiger, Marcus and Leppert, Mark and Allikmets, Rando and Bahlo, Melanie and MacTel Project Consortium
Nature genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 559 - 567
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Genetic Loci - genetics | Child, Preschool | Male | Retinal Telangiectasis - genetics | Young Adult | Adolescent | Aged, 80 and over | Polymorphism, Single Nucleotide - genetics | Adult | Female | Aged | Genome-Wide Association Study - methods | Child | Quantitative trait loci | Telangiectasis | Care and treatment | Genetic variation | Development and progression | Genetic aspects | Health aspects | Retinal diseases | Studies | Design | Databases | Funding | Population | Genetic engineering | Genomes | Diabetes | Index Medicus
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10. Full Text Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease
by Bonelli, Roberto and Woods, Sasha M and Ansell, Brendan R. E and Heeren, Tjebo F. C and Egan, Catherine A and Khan, Kamron N and Guymer, Robyn and Trombley, Jennifer and Friedlander, Martin and Bahlo, Melanie and Fruttiger, Marcus
Scientific reports, ISSN 2045-2322, 07/2020, Volume 10, Issue 1, pp. 12165 - 12165
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Glycine - metabolism | Humans | Middle Aged | Phosphatidylethanolamines - blood | Male | Retinal Diseases - metabolism | Case-Control Studies | Genetic Variation | Retinal Diseases - pathology | Diabetes Mellitus, Type 2 - etiology | Female | Carbamoyl-Phosphate Synthase (Ammonia) - genetics | Phosphoric Monoester Hydrolases - genetics | Sphingomyelins - metabolism | Phosphoglycerate Dehydrogenase - metabolism | Retinal Diseases - complications | Risk Factors | Metabolome | Metabolomics - methods | Serine - metabolism | Phosphoglycerate Dehydrogenase - genetics | Metabolic Networks and Pathways - genetics | Carbamoyl-Phosphate Synthase (Ammonia) - metabolism | Sphingomyelins - blood | Aged | Phosphatidylethanolamines - metabolism | Phosphoric Monoester Hydrolases - metabolism | Metabolomics | Neurodegenerative diseases | Computational neuroscience | Serine | Retina | Lipids | Metabolism | Glycine | Risk factors | Metabolites | Neurodegeneration | Retinal degeneration | Sphingomyelin | Metabolic pathways | Lipid metabolism | Index Medicus
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