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1دورية أكاديمية
المؤلفون: Giulliana Chávez-Pasco, Jeny Bazalar-Montoya, Cecilia Bonilla Suarez, Krista Bluske, Samuel Strom, Alka Malhotra, Becky Milewski, Erin Thorpe, Ryan Taft, Gioconda Manassero-Morales
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101262- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe
المصدر: Cell Genomics, Vol 3, Iss 2, Pp 100258- (2023)
مصطلحات موضوعية: rare disease, RUGD, gene curation, gene-disease relationship, GDR, genome sequencing, Genetics, QH426-470, Internal medicine, RC31-1245
وصف الملف: electronic resource
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المؤلفون: Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
المساهمون: Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera [San Carlos, CA, USA], Children’s Hospital Los Angeles [Los Angeles], Keck School of Medicine [Los Angeles], University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York Medical College (NYMC), University of Illinois [Chicago] (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand [Johannesburg] (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital [Mississauga, ON, Canada] (THP-MH), University of Washington [Seattle], University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children [Toronto] (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California [Los Angeles] (UCLA), University of California (UC), The Jackson Laboratory [Bar Harbor] (JAX), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Heidelberg University Hospital [Heidelberg], This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834., Betancur, Catalina
المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩مصطلحات موضوعية: ClinGen, MESH: Humans, Autism Spectrum Disorder, Autism, MESH: Autism Spectrum Disorder* / genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Intellectual Disability, MESH: Autistic Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, Humans, Autistic Disorder, MESH: Neurodevelopmental Disorders* / genetics, Genetics (clinical), Gene–disease validity
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8
https://doi.org/10.1016/j.gim.2022.05.001 -
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المؤلفون: Prince Makay, Gerrye Mubungu, Aimée Mupuala, Krista Bluske, Carolyn Brown, Sarah A. Schmidt, Mamy Ngole, Patrick Fuanani, Denise L. Perry, Prosper Lukusa, Koenraad Devriendt, Ryan J. Taft, Aimé Lumaka
المصدر: American Journal of Medical Genetics Part A. 188:2825-2831
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Marcia C. Willing, Sonika Dahiya, Jennifer A. Wambach, Krista Bluske, Daniel J. Wegner, Ryan J. Taft, Marwan Shinawi, Frances V. White, William McAllister, F S Cole, Amanda Buchanan, Dustin Baldridge, Robert C. Bucelli, Kristen K Rosano
المصدر: American Journal of Medical Genetics Part A. 185:2190-2197
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Arthrogryposis, Proband, Pathology, medicine.medical_specialty, Arthrogryposis multiplex congenita, business.industry, Spinal muscular atrophy, 030105 genetics & heredity, medicine.disease, Phenotype, 03 medical and health sciences, Pulmonary hypoplasia, 030104 developmental biology, RNA splicing, Genetics, medicine, Congenital contracture, medicine.symptom, business, Genetics (clinical)
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المؤلفون: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler
المساهمون: Clinical Genetics, Developmental Biology, Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P., Boycott, K. M., Barakat, T. S., Graham, J. M., Faivre, L., Banka, S., Wang, T., Eichler, E. E., Priolo, M., Dallapiccola, B., Vissers, L. E. L. M., Sadikovic, B., Scott, D. A., Holder, J. L., Tartaglia, M., MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516مصطلحات موضوعية: 0301 basic medicine, SHARP, Male, obesity, genotype-phenotype correlations, Autism Spectrum Disorder, PROTEIN, Chromosome Disorders, Haploinsufficiency, RNA-Binding Protein, PHENOTYPE CORRELATIONS, 1p36, distal 1p36 deletion syndrome, DNA methylome analysis, episignature, neurodevelopmental disorder, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, X, DNA Methylation, DNA-Binding Proteins, Epigenesis, Genetic, Female, Humans, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, RNA-Binding Proteins, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Neurodevelopmental Disorder, Intellectual disability, MOLECULAR CHARACTERIZATION, Genetics (clinical), Genetics, DNA methylome analysi, SPLIT-ENDS, Hypotonia, Autism spectrum disorder, MONOSOMY 1P36, Pair 1, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, DNA-Binding Protein, Biology, genotype-phenotype correlation, Chromosomes, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Report, REVEALS, medicine, Epigenetics, Preschool, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 1p36 deletion syndrome, IDENTIFICATION, MUTATIONS, medicine.disease, GENE, 030104 developmental biology, Chromosome Disorder, 030217 neurology & neurosurgery, Epigenesis
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184 -
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المؤلفون: Alison J. Coffey, Alka Malhotra, Bryan R. Lajoie, Egor Dolzhenko, Denise L. Perry, Alicia Scocchia, R. Tanner Hagelstrom, Amirah Khouzam, Ryan J. Taft, Vani Rajan, Tina Hambuch, Stephen Tanner, Natasa Dzidic, Shimul Chowdhury, Andrew M. Gross, Trilochan Sahoo, Eric Roller, Subramanian S. Ajay, Erin Thorpe, Nicole J. Burns, Karine Hovanes, Sergii Ivakhno, David R. Bentley, Julia McEachern, Michael A. Eberle, Carolyn Brown, John W Belmont, Aditi Chawla, Krista Bluske
المصدر: Genetics in Medicine
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Microarray, whole genome sequencing (WGS), Computational biology, Disease, 030105 genetics & heredity, Biology, Undiagnosed Diseases, Article, DNA sequencing, Cohort Studies, Young Adult, 03 medical and health sciences, Rare Diseases, medicine, Humans, Genetic Testing, Copy-number variation, Child, Genetics (clinical), Whole Genome Sequencing, Genome, Human, Breakpoint, Chromosome Mapping, Infant, Genomics, medicine.disease, Uniparental disomy, rare and undiagnosed disease, copy number variation (CNV), 030104 developmental biology, Child, Preschool, structural variation (SV), Female, DNA microarray, Trisomy, microarray
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المؤلفون: Anjana Chandrasekhar, Zinayida Schlachetzki, Alison Coffey, Ali Fenstermaker, Richard Wang, Krista Bluske, Marcus Naymik, Sampath Rangasamy, Anna Bonfitto, Wayne Jepsen, Matt Huentelman, Vinodh Narayanan, Keri Ramsey, Akanchha Kesari, Denise Perry, Ryan Taft
المصدر: Genetics in Medicine. 24:S206
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7dfd4628b678b1363098c74545e21881
https://doi.org/10.1016/j.gim.2022.01.364 -
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المؤلفون: Kimberly A. Kripps, Jill A. Rosenfeld, Carlos A. Bacino, Lisa Emrick, John W. Belmont, Mahim Jain, Denise L. Perry, Lindsay C. Burrage, LaDonna Immken, Ryan J. Taft, Brendan Lee, Adeline Vanderver, Krista Bluske, Seema R. Lalani, Austin Larson, Nilesh K. Desai, Honey Nagakura
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Male, leukoencephalopathy, 17p13.3 microdeletion, Lissencephaly, 030105 genetics & heredity, Biology, Article, White matter, Leukoencephalopathy, Cohort Studies, 03 medical and health sciences, PAFAH1B1, Adapter molecule crk, chromosomal microarray, Leukoencephalopathies, medicine, Humans, Child, YWHAE, Genetics (clinical), Genetics, Infant, Newborn, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, medicine.anatomical_structure, 14-3-3 Proteins, Child, Preschool, Chromosomal region, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Female, Chromosome Deletion, Haploinsufficiency, white matter, Microtubule-Associated Proteins, Chromosomes, Human, Pair 17
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10Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease
المؤلفون: Krista Bluske, Carolyn Brown, Trilochan Sahoo, Alison J. Coffey, Andrew M. Gross, Michael A. Eberle, Rajan, Amirah Khouzam, Ryan J. Taft, Egor Dolzhenko, Natasa Dzidic, Erin Thorpe, Alka Malhotra, Denise L. Perry, Aditi Chawla, Julia McEachern, John W Belmont, Eric Roller, Nicole J. Burns, Sergii Ivakhno, David R. Bentley, Karine Hovanes, Bryan R. Lajoie, Tina Hambuch, Stephen Tanner, Subramanian S. Ajay, Alicia Scocchia, R. Tanner Hagelstrom, Shimul Chowdhury
مصطلحات موضوعية: Whole genome sequencing, Microarray, Clinical cohort, Computer science, medicine, Copy-number variation, Disease, Computational biology, DNA microarray, Trisomy, medicine.disease, Uniparental disomy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3952c7a94c271aa8dd0b0d5c309cb1cb