المؤلفون: Timour Baslan, John P. Morris, Zhen Zhao, Jose Reyes, Yu-Jui Ho, Kaloyan M. Tsanov, Jonathan Bermeo, Sha Tian, Sean Zhang, Gokce Askan, Aslihan Yavas, Nicolas Lecomte, Amanda Erakky, Anna M. Varghese, Amy Zhang, Jude Kendall, Elena Ghiban, Lubomir Chorbadjiev, Jie Wu, Nevenka Dimitrova, Kalyani Chadalavada, Gouri J. Nanjangud, Chaitanya Bandlamudi, Yixiao Gong, Mark T. A. Donoghue, Nicholas D. Socci, Alex Krasnitz, Faiyaz Notta, Steve D. Leach, Christine A. Iacobuzio-Donahue, Scott W. Lowe

المصدر: Nature. 608:795-802

مصطلحات موضوعية: Genome, Multidisciplinary, Models, Genetic, Carcinogenesis, Loss of Heterozygosity, Adenocarcinoma, Genes, p53, Evolution, Molecular, Pancreatic Neoplasms, Mice, Disease Progression, Animals, Tumor Suppressor Protein p53, Gene Deletion, Carcinoma, Pancreatic Ductal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d92e4faced4f3453550dbf42fecb004
https://doi.org/10.1038/s41586-022-05082-5

المؤلفون: Niamh M, Ryan, Jayon, Lihm, Melissa, Kramer, Shane, McCarthy, Stewart W, Morris, Aleix, Arnau-Soler, Gail, Davies, Barbara, Duff, Elena, Ghiban, Caroline, Hayward, Ian J, Deary, Douglas H R, Blackwood, Stephen M, Lawrie, Andrew M, McIntosh, Kathryn L, Evans, David J, Porteous, W Richard, McCombie, Pippa A, Thomson

المصدر: Molecular Psychiatry

مصطلحات موضوعية: Adult, Male, Multifactorial Inheritance, Genotype, Genetic Linkage, Receptor, Metabotropic Glutamate 5, Recombinant Fusion Proteins, Nerve Tissue Proteins, Translocation, Genetic, Gene Frequency, Contactins, Humans, Family, Genetic Predisposition to Disease, Genetic Testing, RNA, Messenger, Alleles, Mood Disorders, Mental Disorders, Genomics, Sequence Analysis, DNA, Middle Aged, Cyclic Nucleotide Phosphodiesterases, Type 4, Pedigree, Phenotype, Female, RNA, Long Noncoding, Lod Score, Immediate Communication, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a2ae036c51b2f86d1f10829e0e605599
https://pubmed.ncbi.nlm.nih.gov/29880880

المؤلفون: Jayon Lihm, Shane McCarthy, Eric Kelleher, Elena Ghiban, Carol O'Brien, Aiden Corvin, Jesse Gillis, Melissa Kramer, Rebecca Solomon, Seungtai Yoon, Paul Pavlidis, Meeta Mistry, Michael Gill, Derek W. Morris, Eric Antoniou, W R McCombie, Berstein Y, Gary Donohoe

المصدر: Molecular psychiatry

مصطلحات موضوعية: Adult, Male, Adolescent, Autism, DNA Mutational Analysis, Haploinsufficiency, Biology, Article, MECP2, De novo Mutations, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, CHD8, Intellectual Disability, Genetic variation, Intellectual disability, medicine, Humans, Exome, Family, Genetic Predisposition to Disease, Epigenetics, Autistic Disorder, Molecular Biology, Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, Middle Aged, Chromatin Assembly and Disassembly, medicine.disease, 3. Good health, Psychiatry and Mental health, Codon, Nonsense, Mutation, Schizophrenia, Female, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e542b0affc714f9d731d443b3e40b591
https://doi.org/10.1038/mp.2014.29

المؤلفون: David J. Porteous, J. Kirsty Millar, Stephen M. Lawrie, Pippa A. Thomson, Kathryn L. Evans, Jayon Lihm, W. Richard McCombie, Andrew M. McIntosh, Douglas Blackwood, Elena Ghiban, Melissa Kramer, Niamh M. Ryan, Generation Scotland, Shane McCarthy

المصدر: European Neuropsychopharmacology. 29:S890

مصطلحات موضوعية: Pharmacology, Genetics, education.field_of_study, biology, Genetic heterogeneity, Population, medicine.disease, Penetrance, Psychiatry and Mental health, DISC1, DISC2, Neurology, Schizophrenia, medicine, biology.protein, Major depressive disorder, Pharmacology (medical), Neurology (clinical), Bipolar disorder, education, Biological Psychiatry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ca77b1d104d2a9b80736238f52db739a
https://doi.org/10.1016/j.euroneuro.2017.08.196

المؤلفون: Anthony Leotta, Steven Marks, Ivan Iossifov, Lucinda Fulton, Kith Pradhan, Peter Andrews, Linda Rodgers, Michael Wigler, Beicong Ma, Richard W. McCombie, Jennifer Troge, Elena Ghiban, Ryan Demeter, Robert S. Fulton, Julie Rosenbaum, Asya Stepansky, Vincent Magrini, Yoon-ha Lee, Kenny Ye, Jennifer Parla, Richard K. Wilson, Robert B. Darnell, Boris Yamrom, Inessa Hakker, Jennifer C. Darnell, Michael Ronemus, Michael C. Schatz, Dan Levy, Elaine R. Mardis, Zihua Wang, Giuseppe Narzisi, Melissa Kramer, Jude Kendall, Mitchell A. Bekritsky, Ewa A. Grabowska

المصدر: Neuron. 74(2):285-299

مصطلحات موضوعية: Male, Models, Molecular, Parents, Neuroscience(all), Gene Dosage, SYNGAP1, Biology, medicine.disease_cause, Gene dosage, Fragile X Mental Retardation Protein, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Child, Gene, Genetic Association Studies, Exome sequencing, 030304 developmental biology, Family Health, Genetics, 0303 health sciences, Mutation, General Neuroscience, medicine.disease, Phenotype, Child Development Disorders, Pervasive, Child, Preschool, Autism, Female, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::436dac00dfb388b306cc1884918b76cf

المؤلفون: Douglas Blackwood, Melissa Kramer, Shane McCarthy, S. W. Morris, Ian J. Deary, David J. Porteous, Jianchao Yao, Jennifer Parla, James D. Watson, S Cass, Dinesh C. Soares, J. K. Millar, Andrew M. McIntosh, D Rebolini, W. R. McCombie, John M. Starr, Kathryn L. Evans, Peter M. Visscher, Donald J. MacIntyre, Sarah E. Harris, L Cardone, Pippa A. Thomson, Elena Ghiban, Allan F. McRae, William Hennah, K Ramakrishnan

المصدر: Thomson, P A, Parla, J S, McRae, A F, Kramer, M, Ramakrishnan, K, Yao, J, Soares, D C, McCarthy, S, Morris, S W, Cardone, L, Cass, S, Ghiban, E, Hennah, W, Evans, K L, Rebolini, D, Millar, J K, Harris, S E, Starr, J M, MacIntyre, D J, McIntosh, A M, Watson, J D, Deary, I J, Visscher, P M, Blackwood, D H & McCombie, W R & Porteous, D J 2014, ' 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects : analysis for association with psychiatric disorder and cognitive traits ', Molecular Psychiatry, vol. 19, no. 6, pp. 668-675 . https://doi.org/10.1038/mp.2013.68
Molecular Psychiatry

مصطلحات موضوعية: Candidate gene, medicine.medical_specialty, Bipolar Disorder, DNA Mutational Analysis, Nerve Tissue Proteins, Single-nucleotide polymorphism, Biology, Bioinformatics, Polymorphism, Single Nucleotide, White People, DISC1, recurrent major depressive disorder, sequencing, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cognition, 0302 clinical medicine, Gene Frequency, medicine, Humans, Family, Genetic Predisposition to Disease, Bipolar disorder, 1000 Genomes Project, Psychiatry, DISC1, Molecular Biology, Allele frequency, Exome sequencing, 030304 developmental biology, Genetic association, Genetics, Depressive Disorder, Major, 0303 health sciences, recurrent major depressive disorder, Mental Disorders, Exons, sequencing, medicine.disease, Pedigree, Minor allele frequency, Psychiatry and Mental health, Scotland, Schizophrenia, Original Article, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f1092d8430871bc8d1d9a22fbb74f8d
https://www.pure.ed.ac.uk/ws/files/8303454/708_Common_and_2010_rare_DISC1_locus_variants_identified_in_1542_subjects_analysis_for_association_with_psychiatric_disorder_and_cognitive_traits.pdf

المؤلفون: Mark Wright, Jer Ming Chia, Elena Ghiban, Joshua C. Stein, Eric Antonio, James Gurtowski, Doreen Ware, Lyza G. Maron, Alejandro Hernandez Wences, W. Richard McCombie, Hayan Lee, Susan R. McCouch, Eric Biggers, Michael C. Schatz, Melissa Kramer

مصطلحات موضوعية: 0106 biological sciences, 2. Zero hunger, 0303 health sciences, Sequence assembly, Genomics, Computational biology, Biology, 01 natural sciences, Genome, Phenotype, Structural variation, 03 medical and health sciences, Gene, Organism, 030304 developmental biology, 010606 plant biology & botany, Reference genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1592922a37d093ef217a569763fa93f9
https://doi.org/10.1101/003764

المؤلفون: Eric Antoniou, Lyza G. Maron, Melissa Kramer, Elena Ghiban, Eric Biggers, Alejandro Hernandez Wences, Hayan Lee, Susan R. McCouch, Doreen Ware, Mark Wright, James Gurtowski, Jer Ming Chia, Michael C. Schatz, W. Richard McCombie, Joshua C. Stein

المصدر: Genome Biology

مصطلحات موضوعية: 0106 biological sciences, Quantitative Trait Loci, Sequence assembly, Locus (genetics), Computational biology, Biology, Breeding, Genome, 01 natural sciences, DNA sequencing, Structural variation, 03 medical and health sciences, Gene, 030304 developmental biology, Genetics, Whole genome sequencing, 2. Zero hunger, 0303 health sciences, Research, Chromosome Mapping, Genetic Variation, High-Throughput Nucleotide Sequencing, Oryza, Phenotype, Sequence Alignment, Genome, Plant, Reference genome, 010606 plant biology & botany

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fcd4da662c7c6e6471b0e491431f7d1