المؤلفون: Ours, Christopher A.^{Aff1, IDs13023023030139_cor1}, Buser, Anna, Hodges, Mia B., Chen, Marcus Y., Sapp, Julie C., Gochuico, Bernadette R., Biesecker, Leslie G.

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Ours, Christopher A.^{Aff1, IDs13023022023256_cor1}, Hodges, Mia B., Oden, Neal, Sapp, Julie C., Biesecker, Leslie G.

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Johnston, Jennifer J, Williamson, Kathleen A, Chou, Christopher M, Sapp, Julie C, Ansari, Morad, Chapman, Heather M, Cooper, David N, Dabir, Tabib, Dudley, Jeffrey N, Holt, Richard J, Ragge, Nicola K, Schäffer, Alejandro A, Sen, Shurjo K, Slavotinek, Anne M, FitzPatrick, David R, Glaser, Thomas M, Stewart, Fiona, Black, Graeme Cm, Biesecker, Leslie G

المصدر: Journal of Medical Genetics. 56(7)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, 3' Untranslated Regions, Alleles, Anophthalmos, Female, Genes, X-Linked, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Lod Score, Male, Microphthalmos, N-Terminal Acetyltransferase A, N-Terminal Acetyltransferase E, Pedigree, Poly A, Sequence Analysis, DNA, X Chromosome Inactivation, Naa10, polyadenylation signal, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/86f7p7hr

المؤلفون: Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R, Sanders, Stephan J, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H, Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T, Humberson, Jennifer B, Robak, Laurie, Scott, Daryl A, Sutton, Vernon R, Skraban, Cara M, Johnston, Jennifer J, Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H, Bongers, Ernie MHF, Gilissen, Christian, Zarate, Yuri A, Kvarnung, Malin, Lally, Kevin P, Kulch, Peggy A, Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M, Klee, Eric W, Sapp, Julie C, Zyskind, Jacob, Holla, Øystein L, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N, Dewan, Tammie, Coban Akdemir, Zeynep H, Telegrafi, Aida, Zackai, Elaine H, Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M, Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, CAUSES Study, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I, Pichurin, Pavel N, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G, Lowenstein, Dan, Posey, Jennifer E, Denommé-Pichon, Anne-Sophie

المصدر: American journal of human genetics. 104(3)

مصطلحات موضوعية: CAUSES Study, Deciphering Developmental Disorders study, Humans, Syndrome, Adaptor Proteins, Signal Transducing, Nuclear Proteins, Prognosis, Autistic Disorder, Amino Acid Sequence, Sequence Homology, Mutation, Missense, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Association Studies, Intellectual Disability, TRRAP, autism spectrum disorder, congenital malformations, de novo variants, histone acetylation, intellectual disability, neurodevelopmental disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Neurosciences, Mental Health, Autism, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Mental health, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4cf0w8wv

المؤلفون: Sapp, Julie C.^{Aff1, Aff2, IDs41436021012957_cor1}, Facio, Flavia M., Cooper, Diane, Lewis, Katie L., Modlin, Emily, van der Wees, Philip^{Aff2, Aff4}, Biesecker, Leslie G.

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(12):2260-2269

المؤلفون: Pithadia, Deeti J., Roman, John W., Sapp, Julie C., Biesecker, Leslie G., Darling, Thomas N.

المصدر: In Journal of the American Academy of Dermatology February 2021 84(2):415-424

المؤلفون: Mirmomen, S. Mojdeh, Arai, Andrew E., Turkbey, Evrim B., Bradley, Andrew J., Sapp, Julie C., Biesecker, Leslie G., Sirajuddin, Arlene^{Aff1, IDs41598021860290_cor7}

المصدر: Scientific Reports. 11(1)

المؤلفون: Parker, Victoria E. R., Keppler-Noreuil, Kim M., Faivre, Laurence, Luu, Maxime, Oden, Neal L., De Silva, Leena, Sapp, Julie C., Andrews, Katrina, Bardou, Marc, Chen, Kong Y., Darling, Thomas N., Gautier, Elodie, Goldspiel, Barry R., Hadj-Rabia, Smail, Harris, Julie, Kounidas, Georgios, Kumar, Parag, Lindhurst, Marjorie J., Loffroy, Romaric, Martin, Ludovic, Phan, Alice, Rother, Kristina I., Widemann, Brigitte C., Wolters, Pamela L., Coubes, Christine, Pinson, Lucile, Willems, Marjolaine, Vincent-Delorme, Catherine, PROMISE Working Group, Vabres, Pierre, Semple, Robert K.^{Aff1, Aff16}, Biesecker, Leslie G.

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(5):1189-1198

المؤلفون: Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B, van Gassen, Koen L, Gulsuner, Suleyman, Harr, Margaret H, Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A, McDonald-McGinn, Donna M, Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R, Rogers, R Curtis, Sagi-Dain, Lena, Sapp, Julie C, Schäffer, Alejandro A, Schanze, Denny, Stewart, Helen, Taylor, Jenny C, Verbeek, Nienke E, Walkiewicz, Magdalena A, Zackai, Elaine H, Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G^{Aff1, IDgim2017249_cor38}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(10):1175-1185

المؤلفون: Biderman Waberski, Marta^Aff1, Lindhurst, Marjorie, Keppler-Noreuil, Kim M, Sapp, Julie C, Baker, Laura, Gripp, Karen W, Adams, Denise M, Biesecker, Leslie G

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(9):1077-1081