المؤلفون: Barak, Tanyeri^{Aff1, Aff2, Aff3, Aff4}, Ristori, Emma^{Aff2, Aff5}, Ercan-Sencicek, A. Gulhan^{Aff1, Aff2, Aff3, Aff4}, Miyagishima, Danielle F.^{Aff1, Aff2, Aff3, Aff4}, Nelson-Williams, Carol, Dong, Weilai^{Aff2, Aff6}, Jin, Sheng Chih^{Aff2, Aff6, Aff7}, Prendergast, Andrew, Armero, William^{Aff2, Aff5}, Henegariu, Octavian^{Aff1, Aff2, Aff3, Aff4}, Erson-Omay, E. Zeynep^{Aff1, Aff2, Aff3, Aff4}, Harmancı, Akdes Serin^{Aff1, Aff2, Aff3, Aff4}, Guy, Mikhael, Gültekin, Batur, Kilic, Deniz, Rai, Devendra K.^{Aff1, Aff2, Aff3, Aff4}, Goc, Nükte, Aguilera, Stephanie Marie, Gülez, Burcu, Altinok, Selin, Ozcan, Kent, Yarman, Yanki, Coskun, Süleyman^{Aff1, Aff2, Aff3, Aff4}, Sempou, Emily, Deniz, Engin, Hintzen, Jared, Cox, Andrew, Fomchenko, Elena, Jung, Su Woong, Ozturk, Ali Kemal, Louvi, Angeliki^{Aff1, Aff4}, Bilgüvar, Kaya^{Aff2, Aff4, Aff12}, Connolly, Jr., E. Sander, Khokha, Mustafa K.^{Aff2, Aff9}, Kahle, Kristopher T.^{Aff1, Aff14, Aff15, Aff16}, Yasuno, Katsuhito^{Aff1, Aff2, Aff3, Aff4}, Lifton, Richard P.^{Aff2, Aff6}, Mishra-Gorur, Ketu^{Aff1, Aff2, Aff3, Aff4, IDs41591021015727_cor38}, Nicoli, Stefania^{Aff2, Aff5, Aff17, IDs41591021015727_cor39}, Günel, Murat^{Aff1, Aff2, Aff3, Aff4, IDs41591021015727_cor40}

المصدر: Nature Medicine. 27(12):2165-2175

المؤلفون: Li, Hongda, Bielas, Stephanie L, Zaki, Maha S, Ismail, Samira, Farfara, Dorit, Um, Kyongmi, Rosti, Rasim O, Scott, Eric C, Tu, Shu, Chi, Neil C, Gabriel, Stacey, Erson-Omay, Emine Z, Ercan-Sencicek, A Gulhan, Yasuno, Katsuhito, Çağlayan, Ahmet Okay, Kaymakçalan, Hande, Ekici, Barış, Bilguvar, Kaya, Gunel, Murat, Gleeson, Joseph G

المصدر: American Journal of Human Genetics. 99(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Genetics, Brain Disorders, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Rare Diseases, Pediatric, Stem Cell Research, Intellectual and Developmental Disabilities (IDD), Stem Cell Research - Induced Pluripotent Stem Cell, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alleles, Apoptosis, Centrosome, Child, Child, Preschool, Cytokinesis, Female, Genes, Recessive, Humans, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Male, Microcephaly, Mitosis, Mutation, Missense, Pedigree, Protein Serine-Threonine Kinases, 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/6p94w25r

المؤلفون: Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora^{Aff5, Aff6}, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid^{Aff17, Aff18, Aff19}, Eslahi, Atieh^{Aff17, Aff20}, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor^{Aff23, Aff24}, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza^{Aff36, Aff37}, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan^{Aff39, Aff40}, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan^Aff1

المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 139(3):415-442

المؤلفون: Sanders, Stephan J, He, Xin, Willsey, A Jeremy, Ercan-Sencicek, A Gulhan, Samocha, Kaitlin E, Cicek, A Ercument, Murtha, Michael T, Bal, Vanessa H, Bishop, Somer L, Dong, Shan, Goldberg, Arthur P, Jinlu, Cai, Keaney, John F, Klei, Lambertus, Mandell, Jeffrey D, Moreno-De-Luca, Daniel, Poultney, Christopher S, Robinson, Elise B, Smith, Louw, Solli-Nowlan, Tor, Su, Mack Y, Teran, Nicole A, Walker, Michael F, Werling, Donna M, Beaudet, Arthur L, Cantor, Rita M, Fombonne, Eric, Geschwind, Daniel H, Grice, Dorothy E, Lord, Catherine, Lowe, Jennifer K, Mane, Shrikant M, Martin, Donna M, Morrow, Eric M, Talkowski, Michael E, Sutcliffe, James S, Walsh, Christopher A, Yu, Timothy W, Consortium, Autism Sequencing, Ledbetter, David H, Martin, Christa Lese, Cook, Edwin H, Buxbaum, Joseph D, Daly, Mark J, Devlin, Bernie, Roeder, Kathryn, State, Matthew W

المصدر: Neuron. 87(6)

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Pediatric, Prevention, Biotechnology, Brain Disorders, Genetics, Mental Health, Intellectual and Developmental Disabilities (IDD), Human Genome, Autism, 2.1 Biological and endogenous factors, Aetiology, Mental health, Autism Spectrum Disorder, Female, Genetic Loci, Genetic Variation, Humans, Male, Protein Interaction Maps, Autism Sequencing Consortium, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/66p4300p

المؤلفون: Ercan-Sencicek, A Gulhan, Jambi, Samira, Franjic, Daniel, Nishimura, Sayoko, Li, Mingfeng, El-Fishawy, Paul, Morgan, Thomas M, Sanders, Stephan J, Bilguvar, Kaya, Suri, Mohnish, Johnson, Michele H, Gupta, Abha R, Yuksel, Zafer, Mane, Shrikant, Grigorenko, Elena, Picciotto, Marina, Alberts, Arthur S, Gunel, Murat, Šestan, Nenad, State, Matthew W

المصدر: European Journal of Human Genetics. 23(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Genetics, Biological Sciences, Pediatric, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Animals, Brain, Carrier Proteins, Cell Line, Child, Child, Preschool, Codon, Nonsense, Female, Formins, Homozygote, Humans, Infant, Male, Mice, Microcephaly, Pedigree, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3ds760kb

المؤلفون: Dong, Shan, Walker, Michael F, Carriero, Nicholas J, DiCola, Michael, Willsey, A Jeremy, Ye, Adam Y, Waqar, Zainulabedin, Gonzalez, Luis E, Overton, John D, Frahm, Stephanie, Keaney, John F, Teran, Nicole A, Dea, Jeanselle, Mandell, Jeffrey D, Bal, Vanessa Hus, Sullivan, Catherine A, DiLullo, Nicholas M, Khalil, Rehab O, Gockley, Jake, Yuksel, Zafer, Sertel, Sinem M, Ercan-Sencicek, A Gulhan, Gupta, Abha R, Mane, Shrikant M, Sheldon, Michael, Brooks, Andrew I, Roeder, Kathryn, Devlin, Bernie, State, Matthew W, Wei, Liping, Sanders, Stephan J

المصدر: Cell Reports. 9(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Autism, Human Genome, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Mental Health, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Mental health, Child, Child Development Disorders, Pervasive, DNA, DNA-Binding Proteins, Female, Fragile X Mental Retardation Protein, Frameshift Mutation, GTP-Binding Proteins, Humans, Male, Nerve Tissue Proteins, Pedigree, Phenotype, Sequence Deletion, Sex Factors, Biochemistry and Cell Biology, Medical Physiology, Biological sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1qh3s2x6

المؤلفون: Baldan, Lissandra Castellan, Williams, Kyle A, Gallezot, Jean-Dominique, Pogorelov, Vladimir, Rapanelli, Maximiliano, Crowley, Michael, Anderson, George M, Loring, Erin, Gorczyca, Roxanne, Billingslea, Eileen, Wasylink, Suzanne, Panza, Kaitlyn E, Ercan-Sencicek, A Gulhan, Krusong, Kuakarun, Leventhal, Bennett L, Ohtsu, Hiroshi, Bloch, Michael H, Hughes, Zoë A, Krystal, John H, Mayes, Linda, de Araujo, Ivan, Ding, Yu-Shin, State, Matthew W, Pittenger, Christopher

المصدر: Neuron. 81(1)

مصطلحات موضوعية: Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Genetics, Neurosciences, Brain Disorders, Neurodegenerative, Tourette Syndrome, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Amphetamine, Animals, Brain, Child, Dopamine Agonists, Dopamine Antagonists, Exploratory Behavior, Female, Histidine Decarboxylase, Humans, Male, Maze Learning, Mice, Mice, Knockout, Middle Aged, Mutation, Oxazines, Raclopride, Radionuclide Imaging, Stereotyped Behavior, Time Factors, Tryptophan, Young Adult, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/02b9x1pf

المؤلفون: Willsey, A Jeremy, Sanders, Stephan J, Li, Mingfeng, Dong, Shan, Tebbenkamp, Andrew T, Muhle, Rebecca A, Reilly, Steven K, Lin, Leon, Fertuzinhos, Sofia, Miller, Jeremy A, Murtha, Michael T, Bichsel, Candace, Niu, Wei, Cotney, Justin, Ercan-Sencicek, A Gulhan, Gockley, Jake, Gupta, Abha R, Han, Wenqi, He, Xin, Hoffman, Ellen J, Klei, Lambertus, Lei, Jing, Liu, Wenzhong, Liu, Li, Lu, Cong, Xu, Xuming, Zhu, Ying, Mane, Shrikant M, Lein, Ed S, Wei, Liping, Noonan, James P, Roeder, Kathryn, Devlin, Bernie, Sestan, Nenad, State, Matthew W

المصدر: Cell. 155(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Neurosciences, Mental Health, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, Clinical Research, Autism, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Mental health, Animals, Brain, Child Development Disorders, Pervasive, Exome, Female, Fetus, Gene Expression Profiling, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Mice, Mutation, Neurons, Prefrontal Cortex, Sequence Analysis, DNA, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8s94z95m

المؤلفون: Novarino, Gaia, El-Fishawy, Paul, Kayserili, Hulya, Meguid, Nagwa A, Scott, Eric M, Schroth, Jana, Silhavy, Jennifer L, Kara, Majdi, Khalil, Rehab O, Ben-Omran, Tawfeg, Ercan-Sencicek, A Gulhan, Hashish, Adel F, Sanders, Stephan J, Gupta, Abha R, Hashem, Hebatalla S, Matern, Dietrich, Gabriel, Stacey, Sweetman, Larry, Rahimi, Yasmeen, Harris, Robert A, State, Matthew W, Gleeson, Joseph G

المصدر: Science. 338(6105)

مصطلحات موضوعية: Autism, Pediatric, Neurodegenerative, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Epilepsy, Genetics, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Neurological, 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide), Adolescent, Amino Acids, Branched-Chain, Animals, Arginine, Autistic Disorder, Base Sequence, Brain, Child, Child, Preschool, Diet, Female, Homozygote, Humans, Intellectual Disability, Male, Mice, Mice, Knockout, Molecular Sequence Data, Mutation, Pedigree, Phosphorylation, Protein Folding, Protein Structure, Tertiary, RNA, Messenger, Young Adult, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5k0515dj

المؤلفون: Negron, Steven G., Ercan-Sencicek, A. Gulhan^{Aff1, Aff2}, Freed, Jessica, Walters, Madeline, Lin, Zhiqiang^Aff1

المصدر: Scientific Reports. 10(1)