المؤلفون: Evrony, Gilad D, Hinch, Anjali Gupta, Luo, Chongyuan

المصدر: Annual Review of Genomics and Human Genetics. 22(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Cancer, Biotechnology, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, DNA, Genome, Genomics, Humans, RNA, Sequence Analysis, DNA, single-cell DNA sequencing, single-cell genomics, lineage tracing, germ cells, organismal development, DNA modifications, Evolutionary Biology, Law, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5s88h5j2Test

المؤلفون: Bae, Jin H., Liu, Ruolin, Roberts, Eugenia, Nguyen, Erica, Tabrizi, Shervin, Rhoades, Justin, Blewett, Timothy, Xiong, Kan, Gydush, Gregory, Shea, Douglas, An, Zhenyi, Patel, Sahil, Cheng, Ju, Sridhar, Sainetra, Liu, Mei Hong, Lassen, Emilie, Skytte, Anne-Bine, Grońska-Pęski, Marta, Shoag, Jonathan E., Evrony, Gilad D., Parsons, Heather A., Mayer, Erica L., Makrigiorgos, G. Mike, Golub, Todd R., Adalsteinsson, Viktor A.

المساهمون: Gerstner Family Foundation, Conquer Cancer Foundation, Prostate Cancer Foundation, U.S. Department of Health & Human Services | National Institutes of Health, Damon Runyon Cancer Research Foundation, Sontag Foundation, Breast Cancer Research Foundation, Susan G. Komen

المصدر: Nature Genetics ; volume 55, issue 5, page 871-879 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/s41588-023-01376-0Test
https://www.nature.com/articles/s41588-023-01376-0.pdfTest
https://www.nature.com/articles/s41588-023-01376-0Test

المؤلفون: Liu, Mei Hong, Costa, Benjamin M, Bianchini, Emilia C, Choi, Una, Bandler, Rachel C, Lassen, Emilie, Grońska-Pęski, Marta, Schwing, Adam, Murphy, Zachary R, Rosenkjær, Daniel, Picciotto, Shany, Bianchi, Vanessa, Stengs, Lucie, Edwards, Melissa, Nunes, Nuno Miguel, Loh, Caitlin A, Truong, Tina K, Brand, Randall E, Pastinen, Tomi, Wagner, J Richard, Skytte, Anne-Bine, Tabori, Uri, Shoag, Jonathan E, Evrony, Gilad D

المصدر: Nature ; ISSN:1476-4687

العلاقة: https://doi.org/10.1038/s41586-024-07532-8Test; https://pubmed.ncbi.nlm.nih.gov/38867045Test

الإتاحة: https://doi.org/10.1038/s41586-024-07532-8Test
https://pubmed.ncbi.nlm.nih.gov/38867045Test

المؤلفون: Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P, Bjornsson, Hans T, Harris, Jacqueline, Dyment, David A, Graham, Gail E, Nezarati, Marjan M, Aul, Ritu B, Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S, Alsaif, Hessa S, Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C, Shashi, Vandana, Sanchez-Lara, Pedro A, Graham, John M, Roberts, Amy, Chorin, Odelia, Evrony, Gilad D, Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A, Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A Micheil, Kline, Antonie D, Au, PY Billie, Weksberg, Rosanna

مصطلحات موضوعية: Au-Kline syndrome, DNA methylation signature, HNRNPK, Kabuki syndrome, Okamoto syndrome, RNA processing gene, epigenetics, episignature, neurodevelopmental disorder, Abnormalities, Multiple, Chromatin, DNA Methylation, Epigenesis, Genetic, Face, Hematologic Diseases, Heterogeneous-Nuclear Ribonucleoprotein K, Humans, Intellectual Disability, Phenotype, Vestibular Diseases

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/361022Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/361022Test

المؤلفون: Chorin, Odelia, Yachelevich, Naomi, Mohamed, Khaled, Moscatelli, Ilana, Pappas, John, Henriksen, Kim, Evrony, Gilad D.

المصدر: Molecular Genetics and Genomic Medicine StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 8(10)

مصطلحات موضوعية: CLCN7, osteopetrosis, RNA-sequencing, transcriptomics, undiagnosed diseases, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/d3368027-9d73-43e5-b838-6abf31935090Test
http://dx.doi.org/10.1002/mgg3.1405Test

المؤلفون: Murphy, Zachary R, Bianchini, Emilia C, Smith, Andrew, Körner, Lisa I, Russell, Teresa, Reinecke, David, Wang, Yuxiu, Snuderl, Matija, Orringer, Daniel A, Evrony, Gilad D

المصدر: medRxiv

العلاقة: https://doi.org/10.1101/2024.05.29.24308126Test; https://pubmed.ncbi.nlm.nih.gov/38854127Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11160868Test/

الإتاحة: https://doi.org/10.1101/2024.05.29.24308126Test
https://pubmed.ncbi.nlm.nih.gov/38854127Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11160868Test/

المؤلفون: Bae, Byoung-Il, Tietjen, Ian, Atabay, Kutay D, Evrony, Gilad D, Johnson, Matthew B, Asare, Ebenezer, Wang, Peter P, Murayama, Ayako Y, Im, Kiho, Lisgo, Steven N, Overman, Lynne, Šestan, Nenad, Chang, Bernard S, Barkovich, A James, Grant, P Ellen, Topçu, Meral, Politsky, Jeffrey, Okano, Hideyuki, Piao, Xianhua, Walsh, Christopher A

المصدر: Science. 343(6172)

مصطلحات موضوعية: Stem Cell Research, Genetics, Stem Cell Research - Nonembryonic - Non-Human, Neurosciences, 1.1 Normal biological development and functioning, Underpinning research, Alternative Splicing, Animals, Base Sequence, Biological Evolution, Body Patterning, Cats, Cell Proliferation, Cerebral Cortex, Codon, Nonsense, Frontal Lobe, Genetic Variation, Haplotypes, Humans, Mice, Molecular Sequence Data, Neural Stem Cells, Pedigree, Promoter Regions, Genetic, Receptors, G-Protein-Coupled, Sequence Deletion, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1n04w7zjTest

المؤلفون: Yang, Yawei J, Baltus, Andrew E, Mathew, Rebecca S, Murphy, Elisabeth A, Evrony, Gilad D, Gonzalez, Dilenny M, Wang, Estee P, Marshall-Walker, Christine A, Barry, Brenda J, Murn, Jernej, Tatarakis, Antonis, Mahajan, Muktar A, Samuels, Herbert H, Shi, Yang, Golden, Jeffrey A, Mahajnah, Muhammad, Shenhav, Ruthie, Walsh, Christopher A

المصدر: Cell. 151(5)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Neurosciences, Genetics, Stem Cell Research - Nonembryonic - Non-Human, Regenerative Medicine, Congenital Structural Anomalies, Brain Disorders, Pediatric, Biotechnology, Rare Diseases, Stem Cell Research, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Animals, Carrier Proteins, Cell Differentiation, Cell Proliferation, DNA-Binding Proteins, Female, Gene Knockdown Techniques, Genes, Lethal, Histone-Lysine N-Methyltransferase, Humans, Intracellular Signaling Peptides and Proteins, Male, Mice, Mice, Knockout, Microcephaly, Multiprotein Complexes, Myeloid-Lymphoid Leukemia Protein, Neural Stem Cells, Neurogenesis, Nuclear Proteins, Repressor Proteins, Transcription Factors, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5q50x5tdTest

المؤلفون: Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A.L., Plasencia, Guillem, Gelb, Bruce D., Grinberg Vaisman, Daniel Raúl, Brinkmann, Ulrich, Webb, Bryn D., Balcells Comas, Susana

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Proteïnes, Malalties neurodegeneratives, Proteins, Neurodegenerative Diseases

وصف الملف: 12 p.; application/pdf

العلاقة: Versió postprint del document publicat a: https://doi.org/10.1038/s41431-019-0374-9Test; European Journal of Human Genetics, 2020, vol. 28, num. 1, p. 64-75; https://doi.org/10.1038/s41431-019-0374-9Test; http://hdl.handle.net/2445/195034Test; 687509

الإتاحة: https://doi.org/10.1038/s41431-019-0374-9Test
http://hdl.handle.net/2445/195034Test

المؤلفون: Evrony, Gilad D.

المصدر: Science, 2016 Nov 01. 354(6312), 557-558.

الوصول الحر: https://www.jstor.org/stable/44710920Test