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1دورية أكاديمية
المؤلفون: Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven Ojavee, Charlie J. Clark, Reedik Mägi, Alexandre Reymond, Zoltán Kutalik
مصطلحات موضوعية: Genetics, Structural variation, CNV, GWAS, Time-to-event analysis, Common diseases, Pleiotropy, 16p13.11, 16p11.2, Genomic disorders
الإتاحة: https://doi.org/10.6084/m9.figshare.24955993.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Rare_copy-number_variants_as_modulators_of_common_disease_susceptibility/24955993Test -
2دورية أكاديمية
المؤلفون: Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J, Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H, Shaikh, Tamim H, Zwick, Michael E, Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G
المصدر: Genome Medicine, vol 15, iss 1
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Humans, Segmental Duplications, Genomic, Chromosome Mapping, Genomics, Syndrome, Haplotypes, DNA Copy Number Variations, 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Clinical Sciences
وصف الملف: application/pdf
العلاقة: qt6cv3233c; https://escholarship.org/uc/item/6cv3233cTest
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3دورية أكاديمية
المؤلفون: Variants, Commission on Novel Technologies for Neurodevelopmental Copy Number, Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Palma, Eduardo Perez, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony
المصدر: American Journal of Human Genetics, vol 109, iss 8
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, DNA Copy Number Variations, Genome, Humans, Neurodevelopmental Disorders, Patient Advocacy, Phenotype, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, CNVs, biobank, community engagement, copy-number variants, genomic disorders, iPSCs, inclusion, infrastructure, long-read sequencing, neurodevelopment, neurological, patient centered, patient led, structural variants, systematic phenotyping, team science
الوقت: 1353 - 1365
وصف الملف: application/pdf
العلاقة: qt3tc3h13f; https://escholarship.org/uc/item/3tc3h13fTest
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4دورية أكاديمية
المؤلفون: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi JL, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H
المساهمون: Shendure, J
المصدر: Genetics, vol 217, iss 2
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Chromosome Breakpoints, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Pair 16, Craniofacial Abnormalities, Developmental Disabilities, Genomic Structural Variation, Heart Defects, Congenital, Humans, Intellectual Disability, Mental Disorders, Segmental Duplications, Genomic, Seizures, Williams Syndrome, genome mapping, structural variation, genomic disorders, Developmental Biology, Biochemistry and cell biology
وصف الملف: application/pdf
العلاقة: qt15562671; https://escholarship.org/uc/item/15562671Test
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5
المؤلفون: A. Kaitlyn Victor (11622469), Martin Donaldson (4802511), Daniel Johnson (316576), Winston Miller (11622472), Lawrence T. Reiter (6855113)
مصطلحات موضوعية: Molecular Biology, Neuroscience, Structural Biology, Central Nervous System, Molecular Evolution, Molecular Medicine, autism (ASD), mitochondria, Prader-Willi syndrome (PWS), neurodevelopment, dental pulp stem cell (DPSC), mRNA seq, genomic disorders, neurogenetic syndrome
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6صورة
المؤلفون: Feyza Yilmaz (9636782)
مصطلحات موضوعية: Genetics, Genome Structure and Regulation, Genomics, genomic disorders, 3q29
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7
مصطلحات موضوعية: Molecular Biology, Neuroscience, Structural Biology, Central Nervous System, Molecular Evolution, Molecular Medicine, autism (ASD), mitochondria, Prader-Willi syndrome (PWS), neurodevelopment, dental pulp stem cell (DPSC), mRNA seq, genomic disorders, neurogenetic syndrome
الإتاحة: https://doi.org/10.3389/fnmol.2021.747855.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Molecular_Changes_in_Prader-Willi_Syndrome_Neurons_Reveals_Clues_About_Increased_Autism_Susceptibility_pdf/16902040Test -
8
المؤلفون: Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Jiadi Wen, Maurice Mahoney, Allen Bale, James McGrath, Michele Spencer-Manzon, Peining Li, Hui Zhang
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, prenatal and pediatric diagnosis, chromosomal abnormalities, recurrent genomic disorders, microdeletions and microduplications, pathogenic copy number variants, abnormality detection rate, relative frequency, diagnostic accuracy and efficacy
الإتاحة: https://doi.org/10.3389/fgene.2019.01162.s003Test
https://figshare.com/articles/dataset/Table_3_A_Retrospective_Analysis_of_10-Year_Data_Assessed_the_Diagnostic_Accuracy_and_Efficacy_of_Cytogenomic_Abnormalities_in_Current_Prenatal_and_Pediatric_Settings_xlsx/10453457Test -
9
المؤلفون: Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Jiadi Wen, Maurice Mahoney, Allen Bale, James McGrath, Michele Spencer-Manzon, Peining Li, Hui Zhang
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, prenatal and pediatric diagnosis, chromosomal abnormalities, recurrent genomic disorders, microdeletions and microduplications, pathogenic copy number variants, abnormality detection rate, relative frequency, diagnostic accuracy and efficacy
الإتاحة: https://doi.org/10.3389/fgene.2019.01162.s002Test
https://figshare.com/articles/dataset/Table_2_A_Retrospective_Analysis_of_10-Year_Data_Assessed_the_Diagnostic_Accuracy_and_Efficacy_of_Cytogenomic_Abnormalities_in_Current_Prenatal_and_Pediatric_Settings_xlsx/10453448Test -
10
المؤلفون: Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Jiadi Wen, Maurice Mahoney, Allen Bale, James McGrath, Michele Spencer-Manzon, Peining Li, Hui Zhang
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, prenatal and pediatric diagnosis, chromosomal abnormalities, recurrent genomic disorders, microdeletions and microduplications, pathogenic copy number variants, abnormality detection rate, relative frequency, diagnostic accuracy and efficacy
الإتاحة: https://doi.org/10.3389/fgene.2019.01162.s001Test
https://figshare.com/articles/dataset/Table_1_A_Retrospective_Analysis_of_10-Year_Data_Assessed_the_Diagnostic_Accuracy_and_Efficacy_of_Cytogenomic_Abnormalities_in_Current_Prenatal_and_Pediatric_Settings_xlsx/10453439Test
