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JAMA, ISSN 0098-7484, 11/2014, Volume 312, Issue 18, pp. 1870 - 1879
Journal Article
by Stray-Pedersen, Asbjørg, MD, PhD and Sorte, Hanne Sørmo, MS and Samarakoon, Pubudu, MS and Gambin, Tomasz, PhD and Chinn, Ivan K., MD and Coban Akdemir, Zeynep H., PhD and Erichsen, Hans Christian, MD, PhD and Forbes, Lisa R., MD and Gu, Shen, PhD and Yuan, Bo, PhD and Jhangiani, Shalini N., MS and Muzny, Donna M., MS and Rødningen, Olaug Kristin, PhD and Sheng, Ying, PhD and Nicholas, Sarah K., MD, PhD and Noroski, Lenora M., MD, MPH and Seeborg, Filiz O., MD, MPH and Davis, Carla M., MD and Canter, Debra L., MS and Mace, Emily M., PhD and Vece, Timothy J., MD and Allen, Carl E., MD, PhD and Abhyankar, Harshal A., MS and Boone, Philip M., MD, PhD and Beck, Christine R., PhD and Wiszniewski, Wojciech, MD, PhD and Fevang, Børre, MD, PhD and Aukrust, Pål, MD, PhD and Tjønnfjord, Geir E., MD, PhD and Gedde-Dahl, Tobias, MD, PhD and Hjorth-Hansen, Henrik, MD, PhD and Dybedal, Ingunn, MD, PhD and Nordøy, Ingvild, MD, PhD and Jørgensen, Silje F., MD and Abrahamsen, Tore G., MD, PhD and Øverland, Torstein, MD and Bechensteen, Anne Grete, MD, PhD and Skogen, Vegard, MD, PhD and Osnes, Liv T.N., MD, PhD and Kulseth, Mari Ann, PhD and Prescott, Trine E., MD and Rustad, Cecilie F., MD and Heimdal, Ketil R., MD, PhD and Belmont, John W., MD, PhD and Rider, Nicholas L., DO and Chinen, Javier, MD, PhD and Cao, Tram N., MS and Smith, Eric A., BSc and Caldirola, Maria Soledad, BSc and Bezrodnik, Liliana, MD and Lugo Reyes, Saul Oswaldo, MD and Espinosa Rosales, Francisco J., MD and Guerrero-Cursaru, Nina Denisse, BSc and Pedroza, Luis Alberto, PhD and Poli, Cecilia M., MD and Franco, Jose L., MD, PhD and Trujillo Vargas, Claudia M., PhD and Aldave Becerra, Juan Carlos, MD and Wright, Nicola, MD and Issekutz, Thomas B., MD and Issekutz, Andrew C., MD and Abbott, Jordan, MD and Caldwell, Jason W., DO and Bayer, Diana K., DO and Chan, Alice Y., MD, PhD and Aiuti, Alessandro, MD, PhD and Cancrini, Caterina, MD, PhD and Holmberg, Eva, MD and West, Christina, MD, PhD and Burstedt, Magnus, MD, PhD and Karaca, Ender, MD and Yesil, Gözde, MD and Artac, Hasibe, MD and Bayram, Yavuz, MD and Atik, Mehmed Musa, BSc and Eldomery, Mohammad K., MD and Ehlayel, Mohammad S., MD, PhD and Jolles, Stephen, MD, PhD and Flatø, Berit, MD, PhD and Bertuch, Alison A., MD, PhD and Hanson, I. Celine, MD and Zhang, Victor W., PhD and Wong, Lee-Jun, PhD and Hu, Jianhong, PhD and Walkiewicz, Magdalena, PhD and Yang, Yaping, PhD and Eng, Christine M., MD and Boerwinkle, Eric, PhD and Gibbs, Richard A., PhD and Shearer, William T., MD, PhD and Lyle, Robert, PhD and Orange, Jordan S., MD, PhD and Lupski, James R., MD, PhD, DSc (Hon) and Medicinska fakulteten and Institutionen för klinisk vetenskap and Pediatrik and Umeå universitet
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 232 - 245
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1774 - 1785
Deformed epidermal autoregulatory factor‐1 (DEAF1), a transcription factor essential for central nervous system and early embryonic development, has recently... 
deformed epidermal autoregulatory factor‐1 (DEAF1)‐associated neurodevelopmental disorder (DAND) | SAND | intellectual disability (ID) | clinical exome sequencing (CES) | nuclear localization signal (NLS) | deformed epidermal autoregulatory factor-1 (DEAF1)-associated neurodevelopmental disorder (DAND) | DIAGNOSIS | SAND DOMAIN | PROTEIN | SPEECH IMPAIRMENT | FACTOR-I DEAF-1 | INTELLECTUAL DISABILITY | deformed epidermal autoregulatory factor-1 (DEAF1) | associated neurodevelopmental disorder (DAND) | RECEPTOR GENE POLYMORPHISM | BEHAVIORAL-PROBLEMS | GENETICS & HEREDITY | WHITE-MATTER DISEASE | MUTATIONS | Amino Acid Sequence | Humans | Nuclear Proteins - metabolism | Neurodevelopmental Disorders - genetics | Transcription Factors - genetics | Promoter Regions, Genetic - genetics | Intellectual Disability - genetics | Whole Genome Sequencing | Transcription Factors - metabolism | Exome - genetics | Phenotype | Sequence Alignment | Mutation | Nuclear Proteins - genetics | Cohort Studies | Medicine, Experimental | Embryonic development | Medical research | Genetic aspects | Genetic transcription | Genomics | Gene silencing | Embryogenesis | Sand | Nucleotide sequence | Clonal deletion | Electrophoretic mobility | Central nervous system | Neurodevelopmental disorders | Immunofluorescence | Cytoplasm | Deoxyribonucleic acid--DNA | deformed epidermal autoregulatory factor-1 (DEAF1) associated neurodevelopmental disorder (DAND)
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2017, Volume 19, Issue 1, pp. 45 - 52
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 613 - 617
Journal Article