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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
Age-related degenerative and malignant diseases represent major challenges for health care systems. Elucidation of the molecular mechanisms underlying... 
REGULATOR | GENE | REPLICATION-FORK | DNA-DAMAGE | GENETICS & HEREDITY | TRANSLESION SYNTHESIS | SPARTAN/C1ORF124 | CHECKPOINT | DVC1 C1ORF124 | STRESS | CANCER | Liver Neoplasms - genetics | Humans | Molecular Sequence Data | Genes, cdc - genetics | Male | Chromosome Mapping | DNA Primers - genetics | Progeria - genetics | DNA-Binding Proteins - genetics | Germ-Line Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Sequence Analysis, DNA | Zebrafish - genetics | Animals | Flow Cytometry | Pedigree | Base Sequence | Carcinoma, Hepatocellular - genetics | Age of Onset | Cloning, Molecular | Fluorescent Antibody Technique | DNA Replication - genetics | Genomic Instability - genetics | 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 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
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1102 - 1107
We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage... 
HOMOZYGOSITY | VARIABILITY | DEMENTIA | GENE | KUFS-DISEASE | GENETICS & HEREDITY | DISORDERS | FRONTOTEMPORAL LOBAR DEGENERATION | INBREEDING COEFFICIENT | SEQUENCING DATA | NEURONAL CEROID-LIPOFUSCINOSIS | 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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3. 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
We performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psychiatric problems,... 
GENETICS & HEREDITY | 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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4. 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
The development of functionally specialized subtypes of dendritic cells ( DCs) can be modeled through the culture of bone marrow with the ligand for the... 
PROGENITORS | SPLEEN | COLONY-STIMULATING FACTOR | DISTINCT | MONOCYTES | HEMATOPOIETIC PRECURSORS | BONE-MARROW CULTURES | STEADY-STATE | MICE | IMMUNOLOGY | FLT3 LIGAND | 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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5. Full Text Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome
by Riley, Lisa G and Cooper, Sandra and Hickey, Peter and Rudinger-Thirion, Joëlle and McKenzie, Matthew and Compton, Alison and Lim, Sze Chern and Thorburn, David and Ryan, Michael T and Giegé, Richard and Bahlo, Melanie and Christodoulou, John
The American Journal of Human Genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, pp. 52 - 59
Mitochondrial respiratory chain disorders are a heterogeneous group of disorders in which the underlying genetic defect is often unknown. We have identified a... 
TISSUE-SPECIFICITY | MAPS | DISEASE | GENETICS & HEREDITY | DISORDERS | MECHANISMS | DEFICIENCIES | PUS1 GENE | CHILDREN | FEATURES | Mitochondria - enzymology | Acidosis, Lactic - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Electron Transport Complex III - physiology | Young Adult | Adult | Female | Electron Transport Complex I - physiology | Child | Chromosomes, Human, Pair 12 - genetics | Genetic Linkage | Amino Acid Sequence | Genome-Wide Association Study | Genetic Association Studies | Genotype | Tyrosine-tRNA Ligase - genetics | Syndrome | Anemia, Sideroblastic - genetics | Pedigree | Adolescent | Electron Transport Complex IV - physiology | Consanguinity | Muscular Diseases - genetics | Mutation | Enzymes | Mitochondria | Genetic disorders | Protein synthesis | Gene loci | Ribonucleic acid--RNA | Gene expression | Chromosomes | Index Medicus | Tyrosine-tRNA Ligase | Multigene Family | Electron Transport Complex I | Electron Transport Complex IV | Phylogeny | Proteins | Life Sciences | Evolution | Muscular Diseases | Acidosis, Lactic | Biochemistry, Molecular Biology | Anemia, Sideroblastic | Sequence Homology, Amino Acid | Sequence Alignment | Linkage (Genetics) | Chromosomes, Human, Pair 12 | Internet | Electron Transport Complex III
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6. Full Text Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens
by Henden, Lyndal and Lee, Stuart and Mueller, Ivo and Barry, Alyssa and Bahlo, Melanie
PLoS Genetics, ISSN 1553-7390, 05/2018, Volume 14, Issue 5, pp. e1007279 - e1007279
Identification of genomic regions that are identical by descent (IBD) has proven useful for human genetic studies where analyses have led to the discovery of... 
HUMAN GENOME | CHLOROQUINE-RESISTANCE | EVOLUTION | RELATEDNESS | RECENT POSITIVE SELECTION | GENETICS & HEREDITY | PARASITE PLASMODIUM-FALCIPARUM | MALARIA PARASITE | DIVERSITY | LINKAGE | ASSOCIATION | Measurement | Infection | Plasmodium falciparum | Pathogenic microorganisms | Malaria | Analysis | Genomics | Population biology | Genetic aspects | Genomes | Drug resistance | Health aspects | Quantitative trait loci | Microbiological research | Distribution | Genetic research | Research | Haplotypes | Disease | Funding | Positive selection | Infections | Biology | Microorganisms | Genetic analysis | Population | Evolution | Bioinformatics | Supervision | Medical research | Pathogens | Cloning | Population structure | Principal components analysis | Disease control | Algorithms | Software | Gene mapping | Index Medicus
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7. Full Text Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis
by Allen, Katrina J and Gurrin, Lyle C and Constantine, Clare C and Osborne, Nicholas J and Delatycki, Martin B and Nicoll, Amanda J and McLaren, Christine E and Bahlo, Melanie and Nisselle, Amy E and Vulpe, Chris D and Anderson, Gregory J and Southey, Melissa C and Giles, Graham G and English, Dallas R and Hopper, John L and Olynyk, John K and Powell, Lawrie W and Gertig, Dorota M
The New England Journal of Medicine, ISSN 0028-4793, 01/2008, Volume 358, Issue 3, pp. 221 - 230
In this large, prospective study of persons of northern European ancestry living in Australia, 1 in 146 was homozygous for a mutation (C282Y) in the HFE gene... 
FIBROSIS | POPULATION | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | MANAGEMENT | CLINICAL EXPRESSION | MUTATION | AFRICAN-AMERICANS | ASSOCIATION | Iron Overload - mortality | Prospective Studies | Hemochromatosis Protein | Membrane Proteins - genetics | Humans | Middle Aged | Proportional Hazards Models | Male | Penetrance | Histocompatibility Antigens Class I - genetics | Liver Diseases - epidemiology | Homozygote | Iron Overload - complications | Hemochromatosis - complications | Aspartate Aminotransferases - blood | Ferritins - blood | Iron Overload - epidemiology | Liver Diseases - etiology | Adult | Female | Heterozygote | Aged | Hemochromatosis - genetics | Transferrin | Genetic aspects | Hemochromatosis | Health aspects | Risk factors | Ferritin | Liver cancer | Disease | Anemia | Womens health | Older people | Mortality | Iron | Index Medicus | Abridged Index Medicus
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8. Full Text Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens
by Henden, Lyndal and Lee, Stuart and Mueller, Ivo and Barry, Alyssa and Bahlo, Melanie
PLoS genetics, 05/2018, Volume 14, Issue 5, p. e1007279
Identification of genomic regions that are identical by descent (IBD) has proven useful for human genetic studies where analyses have led to the discovery of... 
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9. Full Text A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development
by Eising, Else and Carrion-Castillo, Amaia and Vino, Arianna and Strand, Edythe A and Jakielski, Kathy J and Scerri, Thomas S and Hildebrand, Michael S and Webster, Richard and Ma, Alan and Mazoyer, Bernard and Francks, Clyde and Bahlo, Melanie and Scheffer, Ingrid E and Morgan, Angela T and Shriberg, Lawrence D and Fisher, Simon E
Molecular Psychiatry, ISSN 1359-4184, 07/2019, Volume 24, Issue 7, pp. 1065 - 1078
Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was... 
LANGUAGE | MICRODELETION | AUTISM | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | SEQUENCE VARIANTS | NEUROSCIENCES | FOXP2 | INTELLECTUAL DISABILITY | HAPLOINSUFFICIENCY CAUSES | MUTATIONS | EXPRESSION | CHILDHOOD APRAXIA | Brain | Genes | Parents | Cognitive ability | Genomes | Gene expression | Clustering | Embryogenesis | Foxp2 protein | Language | Speech | Children | Mutation | Deoxyribonucleic acid--DNA
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10. Full Text Comparison of clustering tools in R for medium-sized 10x genomics single-cell RNA-sequencing data [version 1; referees: 1 approved, 2 approved with reservations]
by Freytag, Saskia and Tian, Luyi and Lönnstedt, Ingrid and Ng, Milica and Bahlo, Melanie
F1000Research, ISSN 2046-1402, 2018, Volume 7, p. 1297
Background: The commercially available 10x Genomics protocol to generate droplet-based single-cell RNA-seq (scRNA-seq) data is enjoying growing popularity... 
10x Genomics | Single-Cell RNA-seq | Benchmarking | Clustering | Medical research | Genomics | Genes | Documentation | Leukocytes (mononuclear) | Ribonucleic acid--RNA | Datasets | Silver | Algorithms | Cell lines | Peripheral blood mononuclear cells | Software | Methods
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11. 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
Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify... 
JUXTAFOVEOLAR RETINAL TELANGIECTASIS | VASCULAR DEVELOPMENT | CAPILLARY MALFORMATION | PHOSPHATE SYNTHETASE | SEVERE MENTAL-RETARDATION | MALFORMATION-ARTERIOVENOUS MALFORMATION | GENETICS & HEREDITY | TRANSCRIPTION FACTOR MEF2C | HEREDITARY BENIGN TELANGIECTASIA | PLASMA HOMOCYSTEINE | MONOZYGOTIC TWINS | 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 | Funding | Population | Genetic engineering | Genomes | Diabetes | Data bases | Index Medicus
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12. Full Text Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
by Sim, Joe C and Scerri, Thomas and Fanjul‐Fernández, Miriam and Riseley, Jessica R and Gillies, Greta and Pope, Kate and van Roozendaal, Hanna and Heng, Julian I and Mandelstam, Simone A and McGillivray, George and MacGregor, Duncan and Kannan, Lakshminarayanan and Maixner, Wirginia and Harvey, A. Simon and Amor, David J and Delatycki, Martin B and Crino, Peter B and Bahlo, Melanie and Lockhart, Paul J and Leventer, Richard J
Annals of Neurology, ISSN 0364-5134, 01/2016, Volume 79, Issue 1, pp. 132 - 137
We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole‐exome... 
ACTIVATION | GERMLINE | COMPLEX | TUBERS | SPECTRUM | DEPDC5 | NEUROSCIENCES | SOMATIC MUTATIONS | FOCAL EPILEPSY | BRAIN MALFORMATIONS | MTOR | CLINICAL NEUROLOGY | Signal Transduction | Humans | Child, Preschool | Male | Malformations of Cortical Development, Group I - genetics | Pedigree | Epilepsy - genetics | Female | Epilepsies, Partial - genetics | TOR Serine-Threonine Kinases | GTPase-Activating Proteins - genetics | Mutation | Child | Index Medicus
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13. Full Text Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis
by Berkovic, Samuel F and Dibbens, Leanne M and Oshlack, Alicia and Silver, Jeremy D and Katerelos, Marina and Vears, Danya F and Lüllmann-Rauch, Renate and Blanz, Judith and Zhang, Ke Wei and Stankovich, Jim and Kalnins, Renate M and Dowling, John P and Andermann, Frederick and Andermann, Eva and Faldini, Enrico and D'Hooge, Rudi and Vadlamudi, Lata and Macdonell, Richard A and Hodgson, Bree L and Bayly, Marta A and Savige, Judy and Mulley, John C and Smyth, Gordon K and Power, David A and Saftig, Paul and Bahlo, Melanie
The American Journal of Human Genetics, ISSN 0002-9297, 2008, Volume 82, Issue 3, pp. 673 - 684
Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with... 
MOUSE MODEL | DISEASE | GENETICS & HEREDITY | NEURODEGENERATION | RENAL FAILURE SYNDROME | LINKAGE ANALYSIS | MICE | PLEIOTROPY | AUTOPHAGY | IDENTIFICATION | EXPRESSION | Gene Expression | Oligonucleotide Array Sequence Analysis | Humans | Glomerulonephritis - genetics | Genotype | Chromosome Mapping | Chromosomes, Human, Pair 4 - genetics | Genes, Recessive | Myoclonic Epilepsies, Progressive - pathology | Mice, Knockout | Animals | Receptors, Scavenger - genetics | Cerebellar Cortex - pathology | Glomerulonephritis - pathology | Lysosome-Associated Membrane Glycoproteins - genetics | Myoclonic Epilepsies, Progressive - genetics | Mice | Genetic Linkage | DNA microarrays | Myoclonus | Analysis | Causes of | Genetic research | Genetic aspects | Research | Health aspects | Membrane proteins | Proteins | Kidney diseases | Mutation | Gene expression | Epilepsy | Genes | Index Medicus
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