المؤلفون: Willcox, Jon AL, Geiger, Joshua T, Morton, Sarah U, McKean, David, Quiat, Daniel, Gorham, Joshua M, Tai, Angela C, DePalma, Steven, Bernstein, Daniel, Brueckner, Martina, Chung, Wendy K, Giardini, Alessandro, Goldmuntz, Elizabeth, Kaltman, Jonathan R, Kim, Richard, Newburger, Jane W, Shen, Yufeng, Srivastava, Deepak, Tristani-Firouzi, Martin, Gelb, Bruce, Porter, George A, Seidman, JG, Seidman, Christine E

المصدر: American Journal of Human Genetics. 109(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Genetics, Congenital Structural Anomalies, Cardiovascular, Heart Disease, Clinical Research, Pediatric, Aetiology, 2.1 Biological and endogenous factors, DNA Copy Number Variations, DNA, Mitochondrial, Heart Defects, Congenital, Humans, Mitochondria, Mutation, congenital heart disease, genome sequencing, mitochondrial copy number, mitochondrial genome, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8wg5k5vc

المؤلفون: Gonzalez-Teran, Barbara, Pittman, Maureen, Felix, Franco, Thomas, Reuben, Richmond-Buccola, Desmond, Hüttenhain, Ruth, Choudhary, Krishna, Moroni, Elisabetta, Costa, Mauro W, Huang, Yu, Padmanabhan, Arun, Alexanian, Michael, Lee, Clara Youngna, Maven, Bonnie EJ, Samse-Knapp, Kaitlen, Morton, Sarah U, McGregor, Michael, Gifford, Casey A, Seidman, JG, Seidman, Christine E, Gelb, Bruce D, Colombo, Giorgio, Conklin, Bruce R, Black, Brian L, Bruneau, Benoit G, Krogan, Nevan J, Pollard, Katherine S, Srivastava, Deepak

المصدر: Cell. 185(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Cardiovascular Medicine and Haematology, Clinical Sciences, Stem Cell Research, Biotechnology, Heart Disease - Coronary Heart Disease, Pediatric, Cardiovascular, Heart Disease, Congenital Structural Anomalies, Stem Cell Research - Embryonic - Human, Aetiology, 2.1 Biological and endogenous factors, Animals, GATA4 Transcription Factor, Heart Defects, Congenital, Mice, Mutation, Nuclear Proteins, Oxidoreductases, Proteomics, T-Box Domain Proteins, Transcription Factors, GATA4, GLYR1, NPAC, TBX5, congenital heart disease, de novo variants, disease variants, genetics, protein interactome networks, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

URL الوصول: https://escholarship.org/uc/item/00m1b8f0

المؤلفون: Kathiriya, Irfan S, Rao, Kavitha S, Iacono, Giovanni, Devine, W Patrick, Blair, Andrew P, Hota, Swetansu K, Lai, Michael H, Garay, Bayardo I, Thomas, Reuben, Gong, Henry Z, Wasson, Lauren K, Goyal, Piyush, Sukonnik, Tatyana, Hu, Kevin M, Akgun, Gunes A, Bernard, Laure D, Akerberg, Brynn N, Gu, Fei, Li, Kai, Speir, Matthew L, Haeussler, Maximilian, Pu, William T, Stuart, Joshua M, Seidman, Christine E, Seidman, JG, Heyn, Holger, Bruneau, Benoit G

المصدر: Developmental cell. 56(3)

مصطلحات موضوعية: Heart Ventricles, Myocytes, Cardiac, Animals, Humans, Mice, Heart Defects, Congenital, T-Box Domain Proteins, Cell Differentiation, Transcription, Genetic, Body Patterning, Gene Dosage, Mutation, Models, Biological, Gene Regulatory Networks, Haploinsufficiency, MEF2 Transcription Factors, cardiomyocyte differentiation, congenital heart disease, disease modeling, gene dosage, gene regulation, gene regulatory networks, haploinsufficiency, human induced pluripotent stem cells, single cell transcriptomics, transcription factor, Heart Disease - Coronary Heart Disease, Cardiovascular, Genetics, Human Genome, Stem Cell Research, Heart Disease, Congenital Structural Anomalies, Pediatric, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0ws080nc

المؤلفون: Hsieh, Alexander, Morton, Sarah U, Willcox, Jon AL, Gorham, Joshua M, Tai, Angela C, Qi, Hongjian, DePalma, Steven, McKean, David, Griffin, Emily, Manheimer, Kathryn B, Bernstein, Daniel, Kim, Richard W, Newburger, Jane W, Porter, George A, Srivastava, Deepak, Tristani-Firouzi, Martin, Brueckner, Martina, Lifton, Richard P, Goldmuntz, Elizabeth, Gelb, Bruce D, Chung, Wendy K, Seidman, Christine E, Seidman, JG, Shen, Yufeng

المصدر: Genome Medicine. 12(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Cardiovascular, Human Genome, Clinical Research, Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Adolescent, Adult, Child, Child, Preschool, Heart Defects, Congenital, Humans, Infant, Mosaicism, Point Mutation, Software, Young Adult, Mosaic, Somatic, Congenital heart disease, Exome sequencing, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6n9816bk

المؤلفون: Boskovski, Marko T, Homsy, Jason, Nathan, Meena, Sleeper, Lynn A, Morton, Sarah, Manheimer, Kathryn B, Tai, Angela, Gorham, Joshua, Lewis, Matthew, Swartz, Michael, Alfieris, George M, Bacha, Emile A, Karimi, Mohsen, Meyer, David, Nguyen, Khanh, Bernstein, Daniel, Romano-Adesman, Angela, Porter, George A, Goldmuntz, Elizabeth, Chung, Wendy K, Srivastava, Deepak, Kaltman, Jonathan R, Tristani-Firouzi, Martin, Lifton, Richard, Roberts, Amy E, Gaynor, J William, Gelb, Bruce D, Kim, Richard, Seidman, Jonathan G, Brueckner, Martina, Mayer, John E, Newburger, Jane W, Seidman, Christine E

المصدر: Circulation Genomic and Precision Medicine. 13(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Genetics, Patient Safety, Congenital Structural Anomalies, Clinical Research, Human Genome, Transplantation, Heart Disease, Cardiovascular, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 3, DNA Copy Number Variations, Female, Heart Defects, Congenital, Heart Transplantation, Humans, Infant, Kaplan-Meier Estimate, Machine Learning, Male, Odds Ratio, Phenotype, Proportional Hazards Models, Exome Sequencing, genomics, congenital heart disease, heart transplantation, mortality, survival, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7mk6v3w8

المؤلفون: Richter, Felix, Morton, Sarah U, Kim, Seong Won, Kitaygorodsky, Alexander, Wasson, Lauren K, Chen, Kathleen M, Zhou, Jian, Qi, Hongjian, Patel, Nihir, DePalma, Steven R, Parfenov, Michael, Homsy, Jason, Gorham, Joshua M, Manheimer, Kathryn B, Velinder, Matthew, Farrell, Andrew, Marth, Gabor, Schadt, Eric E, Kaltman, Jonathan R, Newburger, Jane W, Giardini, Alessandro, Goldmuntz, Elizabeth, Brueckner, Martina, Kim, Richard, Porter, George A, Bernstein, Daniel, Chung, Wendy K, Srivastava, Deepak, Tristani-Firouzi, Martin, Troyanskaya, Olga G, Dickel, Diane E, Shen, Yufeng, Seidman, Jonathan G, Seidman, Christine E, Gelb, Bruce D

المصدر: Nature Genetics. 52(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Congenital Structural Anomalies, Heart Disease, Pediatric, Human Genome, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Female, Genetic Predisposition to Disease, Genetic Variation, Genomics, Heart, Heart Defects, Congenital, Humans, Male, Mice, Middle Aged, Open Reading Frames, RNA, Untranslated, RNA-Binding Proteins, Transcription, Genetic, Young Adult, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1ps986vj

المؤلفون: Manheimer, Kathryn B, Patel, Nihir, Richter, Felix, Gorham, Joshua, Tai, Angela C, Homsy, Jason, Boskovski, Marko T, Parfenov, Michael, Goldmuntz, Elizabeth, Chung, Wendy K, Brueckner, Martina, Tristani‐Firouzi, Martin, Srivastava, Deepak, Seidman, Jonathan G, Seidman, Christine E, Gelb, Bruce D, Sharp, Andrew J

المصدر: Human Mutation. 39(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Pediatric, Biotechnology, Human Genome, Chromosome Mapping, DNA Copy Number Variations, DNA Mutational Analysis, Exome, Female, Genome, Human, Heart Defects, Congenital, Humans, Male, Sequence Deletion, Exome Sequencing, Whole Genome Sequencing, copy number variant identification, UPD, whole exome sequencing, whole genome sequencing, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0bp306d6

المؤلفون: Jin, Sheng Chih, Homsy, Jason, Zaidi, Samir, Lu, Qiongshi, Morton, Sarah, DePalma, Steven R, Zeng, Xue, Qi, Hongjian, Chang, Weni, Sierant, Michael C, Hung, Wei-Chien, Haider, Shozeb, Zhang, Junhui, Knight, James, Bjornson, Robert D, Castaldi, Christopher, Tikhonoa, Irina R, Bilguvar, Kaya, Mane, Shrikant M, Sanders, Stephan J, Mital, Seema, Russell, Mark W, Gaynor, J William, Deanfield, John, Giardini, Alessandro, Porter, George A, Srivastava, Deepak, Lo, Cecelia W, Shen, Yufeng, Watkins, W Scott, Yandell, Mark, Yost, H Joseph, Tristani-Firouzi, Martin, Newburger, Jane W, Roberts, Amy E, Kim, Richard, Zhao, Hongyu, Kaltman, Jonathan R, Goldmuntz, Elizabeth, Chung, Wendy K, Seidman, Jonathan G, Gelb, Bruce D, Seidman, Christine E, Lifton, Richard P, Brueckner, Martina

المصدر: Nature Genetics. 49(11)

مصطلحات موضوعية: Biological Sciences, Genetics, Cardiovascular, Pediatric, Congenital Structural Anomalies, Brain Disorders, Heart Disease, Heart Disease - Coronary Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Adult, Autistic Disorder, Cardiac Myosins, Case-Control Studies, Child, Exome, Female, Gene Expression, Genetic Predisposition to Disease, Genome-Wide Association Study, Growth Differentiation Factor 1, Heart Defects, Congenital, Heterozygote, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Mutation, Myosin Heavy Chains, Pedigree, Risk, Vascular Endothelial Growth Factor Receptor-3, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/53v407g4

المؤلفون: Homsy, Jason, Zaidi, Samir, Shen, Yufeng, Ware, James S, Samocha, Kaitlin E, Karczewski, Konrad J, DePalma, Steven R, McKean, David, Wakimoto, Hiroko, Gorham, Josh, Jin, Sheng Chih, Deanfield, John, Giardini, Alessandro, Porter, George A, Kim, Richard, Bilguvar, Kaya, López-Giráldez, Francesc, Tikhonova, Irina, Mane, Shrikant, Romano-Adesman, Angela, Qi, Hongjian, Vardarajan, Badri, Ma, Lijiang, Daly, Mark, Roberts, Amy E, Russell, Mark W, Mital, Seema, Newburger, Jane W, Gaynor, J William, Breitbart, Roger E, Iossifov, Ivan, Ronemus, Michael, Sanders, Stephan J, Kaltman, Jonathan R, Seidman, Jonathan G, Brueckner, Martina, Gelb, Bruce D, Goldmuntz, Elizabeth, Lifton, Richard P, Seidman, Christine E, Chung, Wendy K

المصدر: Science. 350(6265)

مصطلحات موضوعية: Congenital Structural Anomalies, Genetics, Pediatric, Heart Disease, Cardiovascular, Brain, Child, Congenital Abnormalities, Exome, Heart Defects, Congenital, Humans, Mutation, Nervous System Malformations, Neurogenesis, Prognosis, RNA Splicing, RNA Splicing Factors, RNA, Messenger, RNA-Binding Proteins, Repressor Proteins, Transcription, Genetic, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5w09w408

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.