المؤلفون: Makova, Kateryna D.^{Aff1, IDs41586024074732_cor1}, Pickett, Brandon D., Harris, Robert S., Hartley, Gabrielle A., Cechova, Monika, Pal, Karol, Nurk, Sergey, Yoo, DongAhn, Li, Qiuhui, Hebbar, Prajna, McGrath, Barbara C., Antonacci, Francesca, Aubel, Margaux, Biddanda, Arjun, Borchers, Matthew, Bornberg-Bauer, Erich^{Aff8, Aff10}, Bouffard, Gerard G., Brooks, Shelise Y., Carbone, Lucia^{Aff11, Aff12}, Carrel, Laura, Carroll, Andrew, Chang, Pi-Chuan, Chin, Chen-Shan, Cook, Daniel E., Craig, Sarah J. C., de Gennaro, Luciana, Diekhans, Mark, Dutra, Amalia, Garcia, Gage H., Grady, Patrick G. S., Green, Richard E., Haddad, Diana, Hallast, Pille, Harvey, William T., Hickey, Glenn, Hillis, David A., Hoyt, Savannah J., Jeong, Hyeonsoo, Kamali, Kaivan, Pond, Sergei L. Kosakovsky, LaPolice, Troy M., Lee, Charles, Lewis, Alexandra P., Loh, Yong-Hwee E., Masterson, Patrick, McGarvey, Kelly M., McCoy, Rajiv C., Medvedev, Paul, Miga, Karen H., Munson, Katherine M., Pak, Evgenia, Paten, Benedict, Pinto, Brendan J., Potapova, Tamara, Rhie, Arang, Rocha, Joana L., Ryabov, Fedor, Ryder, Oliver A., Sacco, Samuel, Shafin, Kishwar, Shepelev, Valery A., Slon, Viviane, Solar, Steven J., Storer, Jessica M., Sudmant, Peter H., Sweetalana, Sweeten, Alex^{Aff2, Aff6}, Tassia, Michael G., Thibaud-Nissen, Françoise, Ventura, Mario, Wilson, Melissa A., Young, Alice C., Zeng, Huiqing, Zhang, Xinru, Szpiech, Zachary A., Huber, Christian D., Gerton, Jennifer L., Yi, Soojin V., Schatz, Michael C., Alexandrov, Ivan A., Koren, Sergey, O’Neill, Rachel J., Eichler, Evan E.^{Aff5, Aff26, IDs41586024074732_cor83}, Phillippy, Adam M.^{Aff2, IDs41586024074732_cor84}

المصدر: Nature: International weekly journal of science. 630(8016):401-411

المؤلفون: Hudac, Caitlin M.^{Aff1, Aff3, Aff9, IDs10803023058979_cor1}, Friedman, Nicole R.^{Aff2, Aff3}, Ward, Victoria R.^{Aff2, Aff3}, Estreicher, Rachel E.^{Aff2, Aff3}, Dorsey, Grace C.^{Aff2, Aff3}, Bernier, Raphael A., Kurtz-Nelson, Evangeline C., Earl, Rachel K., Eichler, Evan E.^{Aff6, Aff7}, Neuhaus, Emily^{Aff4, Aff8}

المصدر: Journal of Autism and Developmental Disorders. 54(6):2386-2401

المؤلفون: Benavidez, Hannah R., Johansson, Margaret, Jones, Elizabeth, Rea, Hannah^{Aff2, Aff3}, Kurtz-Nelson, Evangeline C., Miles, Conor, Whiting, Alana, Eayrs, Curtis, Earl, Rachel, Bernier, Raphael A., Eichler, Evan E.^{Aff5, Aff6}, Neuhaus, Emily^{Aff2, Aff3, IDs10803024064142_cor12}

المصدر: Journal of Autism and Developmental Disorders. :1-10

المؤلفون: Logsdon, Glennis A.^{Aff1, Aff14}, Rozanski, Allison N., Ryabov, Fedor, Potapova, Tamara, Shepelev, Valery A., Catacchio, Claudia R., Porubsky, David, Mao, Yafei, Yoo, DongAhn, Rautiainen, Mikko^{Aff7, Aff15}, Koren, Sergey, Nurk, Sergey^{Aff7, Aff16}, Lucas, Julian K.^{Aff8, Aff9}, Hoekzema, Kendra, Munson, Katherine M., Gerton, Jennifer L., Phillippy, Adam M., Ventura, Mario, Alexandrov, Ivan A.^{Aff10, Aff11, Aff12}, Eichler, Evan E.^{Aff1, Aff13, IDs41586024072783_cor20}

المصدر: Nature: International weekly journal of science. 629(8010):136-145

المؤلفون: Courchesne, Eric, Taluja, Vani, Nazari, Sanaz, Aamodt, Caitlin M, Pierce, Karen, Duan, Kuaikuai, Stophaeros, Sunny, Lopez, Linda, Barnes, Cynthia Carter, Troxel, Jaden, Campbell, Kathleen, Wang, Tianyun, Hoekzema, Kendra, Eichler, Evan E, Nani, Joao V, Pontes, Wirla, Sanchez, Sandra Sanchez, Lombardo, Michael V, de Souza, Janaina S, Hayashi, Mirian AF, Muotri, Alysson R

المصدر: Molecular Autism. 15(1)

مصطلحات موضوعية: Cognitive and Computational Psychology, Psychology, Neurosciences, Mental Health, Pediatric, Autism, Intellectual and Developmental Disabilities (IDD), Clinical Research, Brain Disorders, Stem Cell Research, Neurological, Mental health, Humans, Autism Spectrum Disorder, Organoids, Male, Female, Child, Preschool, Cerebral Cortex, Social Behavior, Organ Size, Infant, Severity of Illness Index, Brain, Clinical Sciences, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4q83z0wz
https://escholarship.org/content/qt4q83z0wz/qt4q83z0wz.pdf

المؤلفون: Miga, Karen H, Eichler, Evan E

المصدر: American Journal of Human Genetics. 110(11)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, Humans, Genomics, Sequence Analysis, DNA, High-Throughput Nucleotide Sequencing, Genome, Human, Telomere, 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/05v1f423

المؤلفون: Vollger, Mitchell R, Dishuck, Philip C, Harvey, William T, DeWitt, William S, Guitart, Xavi, Goldberg, Michael E, Rozanski, Allison N, Lucas, Julian, Asri, Mobin, Munson, Katherine M, Lewis, Alexandra P, Hoekzema, Kendra, Logsdon, Glennis A, Porubsky, David, Paten, Benedict, Harris, Kelley, Hsieh, PingHsun, Eichler, Evan E

المصدر: Nature. 617(7960)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Humans, Gene Conversion, Genome, Human, Mutation, Segmental Duplications, Genomic, Polymorphism, Single Nucleotide, Haplotypes, Exons, Cytosine, Guanine, CpG Islands, Human Pangenome Reference Consortium, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9rq1z7r1

المؤلفون: Garza, Raquel, Atacho, Diahann A M, Adami, Anita, Gerdes, Patricia, Vinod, Meghna, Hsieh, PingHsun, Karlsson, Ofelia, Horvath, Vivien, Johansson, Pia A, Pandiloski, Ninoslav, Matas-Fuentes, Jon, Quaegebeur, Annelies, Kouli, Antonina, Sharma, Yogita, Jönsson, Marie E, Monni, Emanuela, Englund, Elisabet, Eichler, Evan E, Gale Hammell, Molly, Barker, Roger A, Kokaia, Zaal, Douse, Christopher H, Jakobsson, Johan

المصدر: Science Advances MultiPark: Multidisciplinary research focused on Parkinson´s disease StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 9(44)

مصطلحات موضوعية: Animals, Humans, Retroelements/genetics, Transcriptome, Long Interspersed Nucleotide Elements/genetics, Neurons, Primates/genetics, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medical and Health Sciences, Basic Medicine, Neurosciences

URL الوصول: https://lup.lub.lu.se/record/67291f8f-9975-41f0-8a5f-8478a6798ea1
http://dx.doi.org/10.1126/sciadv.adh9543

المؤلفون: Porubsky, David, Vollger, Mitchell R, Harvey, William T, Rozanski, Allison N, Ebert, Peter, Hickey, Glenn, Hasenfeld, Patrick, Sanders, Ashley D, Stober, Catherine, Consortium, Human Pangenome Reference, Korbel, Jan O, Paten, Benedict, Marschall, Tobias, Eichler, Evan E, Abel, Haley J, Antonacci-Fulton, Lucinda L, Asri, Mobin, Baid, Gunjan, Baker, Carl A, Belyaeva, Anastasiya, Billis, Konstantinos, Bourque, Guillaume, Buonaiuto, Silvia, Carroll, Andrew, Chaisson, Mark JP, Chang, Pi-Chuan, Chang, Xian H, Cheng, Haoyu, Chu, Justin, Cody, Sarah, Colonna, Vincenza, Cook, Daniel E, Cook-Deegan, Robert M, Cornejo, Omar E, Diekhans, Mark, Doerr, Daniel, Ebler, Jana, Eizenga, Jordan M, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L, Feng, Xiaowen, Fischer, Christian, Flicek, Paul, Formenti, Giulio, Frankish, Adam, Fulton, Robert S, Gao, Yan, Garg, Shilpa, Garrison, Erik, Garrison, Nanibaa’ A, Giron, Carlos Garcia, Green, Richard E, Groza, Cristian, Guarracino, Andrea, Haggerty, Leanne, Hall, Ira M, Haukness, Marina, Haussler, David, Heumos, Simon, Hoekzema, Kendra, Hourlier, Thibaut, Howe, Kerstin, Jain, Miten, Jarvis, Erich D, Ji, Hanlee P, Kenny, Eimear E, Koenig, Barbara A, Kolesnikov, Alexey, Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Lewis, Alexandra P, Li, Heng, Liao, Wen-Wei, Lu, Shuangjia, Lu, Tsung-Yu, Lucas, Julian K, Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, Markello, Charles, Martin, Fergal J, McCartney, Ann, McDaniel, Jennifer, Miga, Karen H, Mitchell, Matthew W, Monlong, Jean, Mountcastle, Jacquelyn, Munson, Katherine M, Mwaniki, Moses Njagi, Nattestad, Maria, Novak, Adam M, Nurk, Sergey

المصدر: Genome Research. 33(4)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Humans, DNA, Satellite, Polymorphism, Genetic, Haplotypes, Segmental Duplications, Genomic, Sequence Analysis, DNA, Human Pangenome Reference Consortium, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8k2708m7

المؤلفون: Bao, Bokan, Zahiri, Javad, Gazestani, Vahid H, Lopez, Linda, Xiao, Yaqiong, Kim, Raphael, Wen, Teresa H, Chiang, Austin WT, Nalabolu, Srinivasa, Pierce, Karen, Robasky, Kimberly, Wang, Tianyun, Hoekzema, Kendra, Eichler, Evan E, Lewis, Nathan E, Courchesne, Eric

المصدر: Molecular psychiatry. 28(2)

مصطلحات موضوعية: Humans, Bayes Theorem, Immunity, Gene Expression, Child, Preschool, Infant, Phosphatidylinositol 3-Kinases, Autism Spectrum Disorder, Genetics, Pediatric, Biotechnology, Genetic Testing, Brain Disorders, Autism, Mental Health, Prevention, Intellectual and Developmental Disabilities (IDD), Detection, screening and diagnosis, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5n12s3bq