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1. Full Text Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
by Milne, Roger L and Kuchenbaecker, Karoline B and Michailidou, Kyriaki and Beesley, Jonathan and Kar, Siddhartha and Lindström, Sara and Hui, Shirley and Lemaçon, Auey and Soucy, Penny and Dennis, Joe and Jiang, Xia and Rostamianfar, Asha and Finucane, Hilary and Bolla, Manjeet K and McGuffog, Lesley and Wang, Qin and Aalfs, Cora M and Adams, Marcia and Adlard, Julian and Agata, Simona and Ahmed, Shahana and Ahsan, Habibul and Aittomäki, Kristiina and Al-Ejeh, Fares and Allen, Jamie and Ambrosone, Christine B and Amos, Christopher I and Anulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia N and Arndt, Volker and Arnold, Norbert and Aronson, Kristan J and Auber, Bernd and Auer, Paul L and Ausems, Margreet G. E. M and Azzollini, Jacopo and Bacot, François and Balmaña, Judith and Barile, Monica and Barjhoux, Laure and Barkardottir, Rosa B and Barrdahl, Myrto and Barnes, Daniel and Barrowdale, Daniel and Baynes, Caroline and Beckmann, Matthias W and Benitez, Javier and Bermisheva, Marina and Bernstein, Leslie and Bignon, Yves-Jean and Blazer, Kathleen R and Blok, Marinus J and Blomqvist, Carl and Blot, William and Bobolis, Kristie and Boeckx, Bram and Bogdanova, Natalia V and Bojesen, Anders and Bojesen, Stig E and Bonanni, Bernardo and Børresen-Dale, Anne-Lise and Bozsik, Aniko and Bradbury, Angela R and Brand, Judith S and Brauch, Hiltrud and Brenner, Hermann and Bressac-de Paillerets, Brigitte and Brewer, Carole and Brinton, Louise and Broberg, Per and Brooks-Wilson, Angela and Brunet, Joan and Brüning, Thomas and Burwinkel, Barbara and Buys, Sauna S and Byun, Jinyoung and Cai, Qiuyin and Caldés, Trinidad and Caligo, Maria A and Campbell, Ian and Canzian, Federico and Caron, Olivier and Carracedo, Angel and Carter, Brian D and Castelao, J. Esteban and Castera, Laurent and Caux-Moncoutier, Virginie and Chan, Salina B and Chang-Claude, Jenny and Chanock, Stephen J and Chen, Xiaoqing and Cheng, Ting-Yuan David and Chiquette, Jocelyne and Christiansen, Hans and Claes, Kathleen B. M and Clarke, Christine L and Conner, Thomas and Conroy, Don M and Cook, Jackie and ... and ABCTB Investigators and HEBON and EMBRACE and GEMO Study Collaborators and kConFab AOCS Investigators and NBSC Collaborators and kConFab/AOCS Investigators and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinsk genetik och genomik and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 12, pp. 1767 - 1778
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor... 
FUNCTIONAL VARIANTS | COMMON VARIANTS | MODIFIERS | MUTATION CARRIERS | OVARIAN CANCERS | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | ENHANCER | CONFER SUSCEPTIBILITY | GENOME-WIDE ASSOCIATION | REVEALS | Breast cancer | Genetic aspects | Genetic variation | Health aspects | Risk factors | Disease | BRCA1 protein | Genes | Estrogens | Health risks | Estrogen receptors | Risk | Genomes | Carriers | Consortia | Cell cycle | Breast | Hormone replacement therapy | Mutation | Gene mapping | Health risk assessment | Bioinformatics | Cancer | Medical and Health Sciences | Medicin och hälsovetenskap
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2. Full Text Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
by Tsoi, L.C and Spain, S.L and Knight, J and Ellinghaus, E and Stuart, P.E and Capon, F and Ding, J and Li, J and Tejasvi, T and Gudjonsson, J.E and Kang, H and Allen, M.H and McManus, R and Novelli, G and Samuelsson, L and Schalkwijk, J and Stahle, M and Burden, A.D and Smith, C.H and Cork, M.J and Estivill, X and Bowcock, A and Krueger, G.G and Weger, W and Worthington, J and Tazi-Ahnini, R and Nestle, F.O and Hayday, A and Hoffmann, P and Winkelmann, J and Wijmenga, C and Langford, C and Edkins, S and Anews, R and Blackburn, H and Strange, A and Band, G and Pearson, R and Vukcevic, D and Spencer, C.C and Deloukas, P and Mrowietz, U and Schreiber, S and Weidinger, S and Koks, S and Kingo, K and Esko, T and Metspalu, A and Lim, H.W and Voorhees, J.J and Weichenthal, M and Wichmann, H.E and Chanan, V and Rosen, C.F and Rahman, P and Gladman, D.D and Griffiths, C.E and Reis, A and Kere, J and Duffin, K.C and Helms, C and Goldgar, D and Li, Y and Paschall, J and Malloy, M.J and Pullinger, C.R and Kane, J.P and Gardner, J and Perlmutter, A and Miner, A and Feng, B.J and Hiremagalore, R and Ike, R.W and Christophers, E and Henseler, T and Ruether, A and Schrodi, S.J and Prahalad, S and Guthery, S.L and Hiregalore, R and Donnelly, P and Collaborative Assoc Study Psoriasi and Psoriasis Assoc Genetics Extension and Genetic Anal Psoriasis Consortium and Wellcome Trust Case Control Consor and Psoriasis Association Genetics Extension and Genetic Analysis of Psoriasis Consortium and Collaborative Association Study of Psoriasis (CASP) and Wellcome Trust Case Control Consortium 2 and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 12, pp. 1341 - 1348
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent... 
COMMON VARIANTS | SIGNALING PATHWAYS | MULTIPLE COMMON | INTERFERON-GAMMA | TH17 DIFFERENTIATION | GENETICS & HEREDITY | GENE-EXPRESSION | T-CELL DEVELOPMENT | GENOME-WIDE ASSOCIATION | CELIAC-DISEASE | NEGATIVE REGULATOR | Oligonucleotide Array Sequence Analysis | Humans | Immunity, Innate - genetics | Genetic Loci | CARD Signaling Adaptor Proteins - genetics | Psoriasis - genetics | Core Binding Factor Alpha 3 Subunit - immunology | STAT3 Transcription Factor - genetics | Skin - immunology | Psoriasis - immunology | CARD Signaling Adaptor Proteins - immunology | DEAD Box Protein 58 | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Guanylate Cyclase - immunology | Membrane Proteins - genetics | Membrane Proteins - immunology | GTPase-Activating Proteins - immunology | DEAD-box RNA Helicases - genetics | Core Binding Factor Alpha 3 Subunit - genetics | DEAD-box RNA Helicases - immunology | Guanylate Cyclase - genetics | T-Lymphocytes - immunology | Polymorphism, Single Nucleotide | GTPase-Activating Proteins - genetics | STAT3 Transcription Factor - immunology | Psoriasis | Physiological aspects | Disease susceptibility | Genetic aspects | Research | Autoimmune diseases | Gene expression | Chromosomes | Risk factors | genetic analysis | innate immunity | Dermatologi och venereologi | Dermatology and Venereal Diseases | psoriasis
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3. Full Text Functional impact of global rare copy number variation in autism spectrum disorders
by Gillberg, Christopher and Kolevzon, Alexander and Nelson, Stanley F and Sansom, Katherine and Casallo, Guillermo and Miller, Judith and Brennan, Sean and Leboyer, Marion and Bacchelli, Elena and Delorme, Richard and Fombonne, Eric and Hallmayer, Joachim and Green, Jonathan and Pickles, Andrew and Heron, Elizabeth A and Salt, Jeff and Battaglia, Agatino and Klauck, Sabine M and McDougle, Christopher J and Mahoney, William and Noor, Abdul and Cytrynbaum, Cheryl and Sato, Daisuke and Almeida, Joana and Korvatska, Olena and Dawson, Geraldine and Bierut, Laura J and Coon, Hilary and Rickaby, Jessica and Freitag, Christine M and Roeder, Kathryn and Bader, Gary D and Wijsman, Ellen M and Vincent, John B and Hakonarson, Hakon and Segurado, Ricardo and Paton, Tara and Roge, Bernadette and Ennis, Sean and Kim, Cecilia and Monaco, Anthony P and Paterson, Andrew D and Crossett, Andrew and McGrath, Jane and Carson, Andrew R and Le Couteur, Ann and Cook, Edwin H and Chung, Brian H.Y and Cuccaro, Michael L and Van Engeland, Herman and Conroy, Judith and Holt, Richard and Strawbridge, Christina and Kustanovich, Vlad and Migita, Ohsuke and Stoppioni, Vera and Igliozzi, Roberta and Poustka, Fritz and Stein, Olaf and Posey, David J and Sheffield, Val C and Duque, Frederico and Parrini, Barbara and Berney, Tom and Hus, Vanessa and Baird, Gillian and Duketis, Eftichia and Soorya, Latha and Corsello, Christina and Drmic, Irene and Sousa, Inês and Abrahams, Brett S and Thomson, Susanne and Lajonchere, Clara M and Tsiantis, John and Pinto, Dalila and Green, Andrew and Hughes, Gillian and Mantoulan, Carine and Betancur, Catalina and Volkmar, Fred and Poustka, Annemarie and Shah, Naisha and Bryson, Susan E and Munson, Jeff and Tancredi, Raffaella and Nygren, Gudrun and Wittemeyer, Kerstin and Merikangas, Alison and Oliveira, Guiomar and Farrar, Penny and Maestrini, Elena and Liu, Xiao-Qing and Gallagher, Louise and McConachie, Helen and Zurawiecki, Danielle and Schellenberg, Gerard D and Glessner, Joseph T and Lord, Catherine and Piven, Joseph and ... and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Nature, ISSN 0028-0836, 07/2010, Volume 466, Issue 7304, pp. 368 - 372
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the... 
COMPLEX | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | LOCI | GENETIC DISORDER | MUTATIONS | LINKAGE | ASSOCIATION | ANCESTRY | REVEALS | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Signal Transduction | Child Development Disorders, Pervasive - pathology | Humans | Child Development Disorders, Pervasive - physiopathology | DNA Copy Number Variations - genetics | Case-Control Studies | Europe - ethnology | Child Development Disorders, Pervasive - genetics | Social Behavior | Child | Cell Movement | Cytoprotection | Confidence intervals | Autism | Genetics | Genes | Quality control | Reproduction | Disorders | Disabilities | Arrays | Loci | Genetic Predisposition to Disease | Europe | Gene Dosage | DNA Copy Number Variations | Life Sciences | Child Development Disorders, Pervasive | Pervasive | Child Development Disorders | Ethnology | Physiopathology | Pathology | Psykiatri | Psychiatry
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4. Full Text A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
by Casey, Jillian P and Magalhaes, Tiago and Conroy, Judith M and Regan, Regina and Shah, Naisha and Anney, Richard and Shields, Denis C and Abrahams, Brett S and Almeida, Joana and Bacchelli, Elena and Bailey, Anthony J and Baird, Gillian and Battaglia, Agatino and Berney, Tom and Bolshakova, Nadia and Bolton, Patrick F and Bourgeron, Thomas and Brennan, Sean and Cali, Phil and Correia, Catarina and Corsello, Christina and Coutanche, Marc and Dawson, Geraldine and de Jonge, Maretha and Delorme, Richard and Duketis, Eftichia and Duque, Frederico and Estes, Annette and Farrar, Penny and Fernandez, Bridget A and Folstein, Susan E and Foley, Suzanne and Fombonne, Eric and Freitag, Christine M and Gilbert, John and Gillberg, Christopher and Glessner, Joseph T and Green, Jonathan and Guter, Stephen J and Hakonarson, Hakon and Holt, Richard and Hughes, Gillian and Hus, Vanessa and Igliozzi, Roberta and Kim, Cecilia and Klauck, Sabine M and Kolevzon, Alexander and Lamb, Janine A and Leboyer, Marion and Le Couteur, Ann and Leventhal, Bennett L and Lord, Catherine and Lund, Sabata C and Maestrini, Elena and Mantoulan, Carine and Marshall, Christian R and McConachie, Helen and McDougle, Christopher J and McGrath, Jane and McMahon, William M and Merikangas, Alison and Miller, Judith and Minopoli, Fiorella and Mirza, Ghazala K and Munson, Jeff and Nelson, Stanley F and Nygren, Gudrun and Oliveira, Guiomar and Pagnamenta, Alistair T and Papanikolaou, Katerina and Parr, Jeremy R and Parrini, Barbara and Pickles, Andrew and Pinto, Dalila and Piven, Joseph and Posey, David J and Poustka, Annemarie and Poustka, Fritz and Ragoussis, Jiannis and Roge, Bernadette and Rutter, Michael L and Sequeira, Ana F and Soorya, Latha and Sousa, Inês and Sykes, Nuala and Stoppioni, Vera and Tancredi, Raffaella and Tauber, Maïté and Thompson, Ann P and Thomson, Susanne and Tsiantis, John and Van Engeland, Herman and Vincent, John B and Volkmar, Fred and Vorstman, Jacob A. S and Wallace, Simon and Wang, Kai and Wassink, Thomas H and White, Kathy and Wing, Kirsty and ... and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Human Genetics, ISSN 0340-6717, 4/2012, Volume 131, Issue 4, pp. 565 - 579
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive... 
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | GLUTAMATE-RECEPTOR-6 GENE | POLYMORPHISMS | DISRUPTION | COPY NUMBER | GENETICS & HEREDITY | SCHIZOPHRENIA | LINKAGE | ASSOCIATION | EXPRESSION | RUNS | STRATIFICATION | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Nuclear Family | Genotype | Male | DNA Copy Number Variations | Linkage Disequilibrium | Haplotypes - genetics | Homozygote | Child Development Disorders, Pervasive - genetics | Adult | Female | Polymorphism, Single Nucleotide | Genome-Wide Association Study - methods | Child | Cluster Analysis | Cohort Studies | Autism | Genetic aspects | Genes | Genomics | Genetic polymorphisms | Haplotypes | Fibroblast growth factor 10 | Cognitive ability | Data processing | Genomes | Single-nucleotide polymorphism | Foxp2 protein | Language | genomics | Heritability | Gene mapping | copy number | Communication | Genetic Predisposition to Disease | Genome-Wide Association Study | Neurons and Cognition | Life Sciences | Child Development Disorders, Pervasive | Original Investigation | Pervasive | Child Development Disorders | Single Nucleotide | Psykiatri | Genetics | Psychiatry | Methods | Polymorphism
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5. Full Text Working with gardeners to identify potential invasive ornamental garden plants: testing a citizen science approach
by Dehnen-Schmutz, Katharina and Conroy, Judith
Biological Invasions, ISSN 1387-3547, 11/2018, Volume 20, Issue 11, pp. 3069 - 3077
The introduction and use of ornamental plants in gardens is the main pathway for plant invasions globally. High numbers of ornamental plants in gardens may not... 
Life Sciences | Garden | Great Britain | Citizen science | Horticulture | Freshwater & Marine Ecology | Non-native plants | Ornamental plants | Ecology | Plant invasion | Developmental Biology | Plant Sciences | PATHWAYS | SOUTH-AFRICA | TRADE | BIOLOGICAL INVASIONS | FLORA | RISK | EUROPE | ALIEN PLANTS | ECOLOGY | BIODIVERSITY CONSERVATION | Usage | Plants | Cultivation | Invasive plants | Risk | Indigenous species | Gardens | Risk management | Invasions | Gardens & gardening
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6. Full Text A genome-wide linkage and association scan reveals novel loci for autism
by Weiss, Lauren A and Arking, Dan E and Daly, Mark J and Chakravarti, Aravinda and Brune, Camille W and West, Kristen and O'Connor, Ashley and Hilton, Gina and Tomlinson, Rebecca L and West, Andrew B and Cook Jr, Edwin H and Green, Todd and Chang, Shun-Chiao and Gabriel, Stacey and Gates, Casey and Hanson, Ellen M and Kirby, Andrew and Korn, Joshua and Kuruvilla, Finny and McCarroll, Steven and Morrow, Eric M and Neale, Benjamin and Purcell, Shaun and Sasanfar, Roksana and Sougnez, Carrie and Stevens, Christine and Altshuler, David and Gusella, James and Santangelo, Susan L and Sklar, Pamela and Tanzi, Rudolph and Anney, Richard and Bailey, Anthony J and Baird, Gillian and Battaglia, Agatino and Berney, Tom and Betancur, Catalina and Bölte, Sven and Bolton, Patrick F and Brian, Jessica and Bryson, Susan E and Buxbaum, Joseph D and Cabrito, Ines and Cai, Guiqing and Cantor, Rita M and Coon, Hilary and Conroy, Judith and Correia, Catarina and Corsello, Christina and Crawford, Emily L and Cuccaro, Michael L and Dawson, Geraldine and De Jonge, Maretha and Devlin, Bernie and Duketis, Eftichia and Ennis, Sean and Estes, Annette and Farrar, Penny and Fombonne, Eric and Freitag, Christine M and Gallagher, Louise and Geschwind, Daniel H and Gilbert, John and Gill, Michael and Gillberg, Christopher and Goldberg, Jeremy and Green, Andrew and Green, Jonathan and Guter, Stephen J and Haines, Jonathan L and Hallmayer, Joachim F and Hus, Vanessa and Klauck, Sabine M and Korvatska, Olena and Lamb, Janine A and Laskawiec, Magdalena and Leboyer, Marion and Le Couteur, Ann and Leventha, Bennett L and Liu, Xiao-Qing and Lord, Catherine and Lotspeich, Linda J and Maestrini, Elena and Magalhaes, Tiago and Mahoney, William and Mantoulan, Carine and McConachie, Helen and McDougle, Christopher J and McMahon, William M and Marshall, Christian R and Miller, Judith and Minshew, Nancy J and Monaco, Anthony P and Munson, Jeff and Nurnberger Jr, John I and Oliveira, Guiomar and Pagnamenta, Alistair and Papanikolaou, Katerina and Parr, Jeremy R and Paterson, Andrew D and ... and Johns Hopkins & Autism Consortium and Gene Discovery Project of Johns Hopkins & the Autism Consortium and The Gene Discovery Project of Johns Hopkins & the Autism Consortium
Nature, ISSN 0028-0836, 10/2009, Volume 461, Issue 7265, pp. 802 - 808
Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited... 
CNTNAP2 | CORTEX | MULTIDISCIPLINARY SCIENCES | COMMON DISEASES | SPECTRUM DISORDERS | MARKERS | GTF2IRD1 | GENETIC VARIANT | DEFICITS | EXPRESSION | WILLIAMS-SYNDROME | Autistic Disorder - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Autistic Disorder - metabolism | Membrane Proteins - genetics | Humans | Chromosome Mapping | Nerve Tissue Proteins - genetics | Brain - metabolism | Nerve Tissue Proteins - metabolism | Sample Size | Internationality | Polymorphism, Single Nucleotide - genetics | Membrane Proteins - metabolism | Genetic Linkage - genetics | Chromosomes, Human, Pair 5 - genetics | Quantitative trait loci | Autism | Genetic aspects | Research | Genotype & phenotype | Genetics | Genomics | Quality control
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7. Full Text Voreloxin is an anticancer quinolone derivative that intercalates DNA and poisons topoisomerase II
by Hawtin, Rachael E and Stockett, David E and Byl, Jo Ann W and McDowell, Robert S and Tan, Nguyen and Arkin, Michelle R and Conroy, Andrew and Yang, Wenjin and Osheroff, Neil and Fox, Judith A
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 4, p. e10186
Background: Topoisomerase II is critical for DNA replication, transcription and chromosome segregation and is a well validated target of anti-neoplastic drugs... 
7-SUBSTITUTED 1,4-DIHYDRO-4-OXO-1-(2-THIAZOLYL)-1,8-NAPHTHYRIDINE-3-CARBOXYLIC ACIDS | CELLS | IN-VITRO | CANCER-CHEMOTHERAPY | DOXORUBICIN | BIOLOGY | ANTHRACYCLINE ANTITUMOR DRUGS | CARDIOTOXICITY | AGENTS | CLEAVAGE | DAUNORUBICIN | Humans | Etoposide - pharmacology | Intercalating Agents | Quinolones - pharmacology | DNA - metabolism | Thiazoles - therapeutic use | Drug Delivery Systems | Quinolones - chemistry | DNA Topoisomerases, Type II - drug effects | Naphthyridines - therapeutic use | Cell Line, Tumor | G2 Phase | Antineoplastic Agents - pharmacology | Thiazoles - pharmacology | DNA Damage | DNA Fragmentation - drug effects | Naphthyridines - pharmacology | Apoptosis | Enzymes | Care and treatment | DNA replication | Anthracyclines | Oncology, Experimental | Etoposide | Research | Genetic transcription | Ovarian cancer | DNA | Genetic research | Genetic aspects | Drug therapy | Cancer | Drugs | Intercalating agents | Yeast | Ovarian carcinoma | Transcription | Toxicity | Leukemia | DNA damage | Clinical trials | Cytotoxicity | Drug delivery | Biochemistry | Structure-activity relationships | Intercalation | Drug resistance | Cancer therapies | Doxorubicin | Fragmentation | Poisons | Platinum | Interrogation | DNA fragmentation | Cell cycle | Drug dosages | Deoxyribonucleic acid--DNA | Medical research | DNA topoisomerase (ATP-hydrolysing) | Prokaryotes | Myeloid leukemia | Medicine | DNA biosynthesis | Side effects | Anthracycline | Poisoning | Acute myeloid leukemia | Pharmaceuticals | Deoxyribonucleic acid
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