المؤلفون: Heinl, Elena-Sofia, Lorenz, Sebastian, Schmidt, Barbara, Laqtom, Nouf Nasser M, Mazzulli, Joseph R, Francelle, Laetitia, Yu, Timothy W, Greenberg, Benjamin, Storch, Stephan, Tegtmeier, Ines, Othmen, Helga, Maurer, Katja, Steinfurth, Malin, Witzgall, Ralph, Milenkovic, Vladimir, Wetzel, Christian H, Reichold, Markus

المصدر: iScience. 25(10)

مصطلحات موضوعية: Medical Microbiology, Biomedical and Clinical Sciences, Biological Sciences, Biodefense, Infectious Diseases, Prevention, Vaccine Related, Emerging Infectious Diseases, Aetiology, 2.1 Biological and endogenous factors, Infection, Good Health and Well Being, Cell biology, Virology

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URL الوصول: https://escholarship.org/uc/item/93c1d6h3

المؤلفون: Kim, Jinkuk^{Aff1, Aff2, Aff3, Aff4, IDs41586023062770_cor1}, Woo, Sijae, de Gusmao, Claudio M.^{Aff5, Aff6}, Zhao, Boxun^{Aff7, Aff8, Aff9, Aff10, Aff11}, Chin, Diana H., DiDonato, Renata L., Nguyen, Minh A., Nakayama, Tojo^{Aff7, Aff11}, Hu, Chunguang April, Soucy, Aubrie, Kuniholm, Ashley, Thornton, Jennifer Karlin, Riccardi, Olivia, Friedman, Danielle A.^{Aff5, Aff7}, El Achkar, Christelle Moufawad^{Aff5, Aff11}, Dash, Zane, Cornelissen, Laura, Donado, Carolina, Faour, Kamli N. W., Bush, Lynn W.^{Aff7, Aff9, Aff15}, Suslovitch, Victoria, Lentucci, Claudia, Park, Peter J., Lee, Eunjung Alice^{Aff7, Aff9, Aff10, Aff11}, Patterson, Al^{Aff11, Aff17}, Philippakis, Anthony A., Margus, Brad, Berde, Charles B.^{Aff11, Aff14}, Yu, Timothy W.^{Aff7, Aff8, Aff9, Aff10, Aff11, IDs41586023062770_cor29}

المصدر: Nature: International weekly journal of science. 619(7971):828-836

المؤلفون: Lai, Jenny, Demirbas, Didem, Kim, Junho, Jeffries, Ailsa M., Tolles, Allie, Park, Junseok, Chittenden, Thomas W., Buckley, Patrick G., Yu, Timothy W., Lodato, Michael A., Lee, Eunjung Alice

المصدر: In Cell Reports 23 January 2024 43(1)

المؤلفون: Agrawal, Pankaj, Allcroft, Tyler, Bhandari, Vineet, Brownstein, Catherine, Cantu, Luis, Jr., D’Gama, Alissa M., Douglas, Jessica, Feldman, Henry A., Genetti, Casie A., Hills, Sonia, Honrubia, Dynio, Kritzer, Amy, Li, Qifei, Parker, Margaret, Rhein, Lawrence, Rothstein, Robert, Salinas, Odalys, Santana, Andres, Schmitz-Abe, Klaus, Serna, Anyssa, Shapiro, Faye, Shenoy, Anjana Bhami, Simoncini, Lindsey, Sinha, Bharati, Verran, Aubrie Soucy, Sousa, Anéya, Tamase Newsam, Marione, Wojcik, Monica H., Young, Vanessa, Yu, Timothy, Yu, Timothy W., Agrawal, Pankaj B., Parker, Margaret G.

المصدر: In Genetics in Medicine June 2024

المؤلفون: Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, Arboleda, Valerie A

المصدر: Molecular Genetics & Genomic Medicine. 9(10)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Blepharophimosis, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, Facies, Genetic Association Studies, Genetic Counseling, Genetic Loci, Genetic Predisposition to Disease, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Urogenital Abnormalities, CRISPR, Genitopatellar syndrome, KAT6B-related disorders, phenotypic spectrum, Say-Barber-Biesecker-Young-Simpson syndrome, variable expressivity, rare genetic diagnosis, variable expressivity, rare genetic diagnosis, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

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URL الوصول: https://escholarship.org/uc/item/9ct9z1sm

المؤلفون: Mackay, Zoë P, Dukhovny, Dmitry, Phillips, Kathryn A, Beggs, Alan H, Green, Robert C, Parad, Richard B, Christensen, Kurt D, Team, BabySeq Project, Agrawal, Pankaj B, Ceyhan-Birsoy, Ozge, Fayer, Shawn, Frankel, Leslie A, Genetti, Casie A, Gutierrez, Amanda M, Harden, Maegan, Holm, Ingrid A, Krier, Joel B, Lebo, Matthew S, Machini, Kalotina, McGuire, Amy L, Naik, Medha, Nguyen, Tiffany T, Pereira, Stacey, Ramanathan, Vivek, Rehm, Heidi L, Roberts, Amy, Robinson, Jill O, Roumiantsev, Sergei, Schwartz, Talia S, Truong, Tina K, VanNoy, Grace E, Waisbren, Susan E, Yu, Timothy W

المصدر: Value in Health. 23(5)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Clinical Research, Human Genome, Health Services, Genetics, Patient Safety, Health and social care services research, 8.1 Organisation and delivery of services, Good Health and Well Being, Female, Genetic Testing, Genomics, Humans, Infant, Longitudinal Studies, Male, Parents, Patient Acceptance of Health Care, Risk Factors, Surveys and Questionnaires, Telephone, genetic testing, genomics, healthcare utilization, health services, humans, infant, newborn, medical records, risk factors, surveys and questionnaires, whole exome sequencing, BabySeq Project Team, Public Health and Health Services, Applied Economics, Health Policy & Services, Applied economics, Health services and systems, Policy and administration

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URL الوصول: https://escholarship.org/uc/item/8b3826xr

المؤلفون: Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, Malicdan, May Christine V

المصدر: American journal of human genetics. 105(2)

مصطلحات موضوعية: Undiagnosed Diseases Network, Cerebellum, Animals, Humans, Drosophila melanogaster, Epilepsy, Nervous System Malformations, Coloboma, Microfilament Proteins, Developmental Disabilities, Amino Acid Sequence, Sequence Homology, Phenotype, Mutation, Adult, Child, Infant, Infant, Newborn, Female, Male, Young Adult, Body Dysmorphic Disorders, Intellectual Disability, WD40 Repeats, CG12333, Drosophila, WD40 repeats, WDR37 domains, bang sensitivity, wdr37, Genetics, Pediatric, Rare Diseases, Congenital Structural Anomalies, Neurodegenerative, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

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URL الوصول: https://escholarship.org/uc/item/8wx8g9p6

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المؤلفون: D’Gama, Alissa M.^{Aff1, Aff2, Aff3, Aff4, Aff5, Aff6}, Del Rosario, Maya C., Bresnahan, Mairead A., Yu, Timothy W.^{Aff3, Aff4, Aff5, Aff6}, Wojcik, Monica H.^{Aff1, Aff3, Aff4, Aff5, Aff6, IDs41525022003269_cor5}, Agrawal, Pankaj B.^{Aff1, Aff3, Aff4, Aff5, Aff6, IDs41525022003269_cor6}

المصدر: npj Genomic Medicine. 7(1)

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