المؤلفون: Maria H Chahrour, Timothy W Yu, Elaine T Lim, Bulent Ataman, Michael E Coulter, R Sean Hill, Christine R Stevens, Christian R Schubert, ARRA Autism Sequencing Collaboration, Michael E Greenberg, Stacey B Gabriel, Christopher A Walsh

المصدر: PLoS Genetics, Vol 8, Iss 4, p e1002635 (2012)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3325173?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/2902585976fa4160a7a77dc60c4d5f5a

المؤلفون: M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh

المصدر: Cell Reports, Vol 8, Iss 3, Pp 647-655 (2014)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124714005233; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/9cd4b10c06d8453cacf637629adde985

المؤلفون: Richard S. Smith, Lina Basel-Salmon, Friedhelm Hildebrandt, Gilad D. Evrony, Aisha M. Al-Shamsi, Jiin Ying Lim, Rachel Straussberg, Indra Ganesan, Diane D. Shao, Christian Beetz, Najim Ameziane, Min Dong, Christopher A. Walsh, Guntram Borck, Saumya Shekhar Jamuar, Lihadh Al-Gazali, Peter Bauer, R. Sean Hill, Edward Yang, Amar J. Majmundar, Iris Hovel, Amal Al Tenaiji, Amjad Khan, Achiya Z. Amir, Hind Ahmed, Muna Al-Saffar, Thorsten M. Schlaeger, Lariza M. Rento, Jennifer E. Neil, A. James Barkovich, Wafaa Eyaid, Songhai Tian, Shirlee Shril

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Developmental Disabilities, Biology, Brief Communication, Genome, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Arachnodactyly, 0302 clinical medicine, Seizures, Intellectual Disability, medicine, Humans, Global developmental delay, Child, Frameshift Mutation, Exome, Genetics (clinical), Genetics, Sanger sequencing, Homozygote, Haplotype, Membrane Proteins, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, symbols, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0412cacce3d49220be4b2d68dd6a0187
https://doi.org/10.1038/s41436-021-01097-x

المؤلفون: Anh Thu N. Lam, Sarah Servattalab, Michael E. Greenberg, R. Sean Hill, Bhaven K. Mehta, Timothy W. Yu, Guzman Sanchez-Schmitz, Kyriacos Markianos, Klaus Schmitz-Abe, Ryan N. Doan, Maria H. Chahrour, Bulent Ataman, Christopher A. Walsh, Eric M. Morrow

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, DNA Copy Number Variations, Autism Spectrum Disorder, lcsh:Medicine, Biology, ENCODE, Article, Epigenesis, Genetic, 03 medical and health sciences, Exon, 0302 clinical medicine, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Epigenetics, lcsh:Science, Epigenomics, Regulation of gene expression, Genetics, Multidisciplinary, Homozygote, lcsh:R, medicine.disease, Gene regulation, 030104 developmental biology, Autism spectrum disorder, Computational neuroscience, Human genome, Female, lcsh:Q, 030217 neurology & neurosurgery, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf03fb399b2b487c72c2bdae3023198
http://link.springer.com/article/10.1038/s41598-020-70656-0

المؤلفون: Richard S, Smith, Marta, Florio, Shyam K, Akula, Jennifer E, Neil, Yidi, Wang, R Sean, Hill, Melissa, Goldman, Christopher D, Mullally, Nora, Reed, Luis, Bello-Espinosa, Laura, Flores-Sarnat, Fabiola Paoli, Monteiro, Casella B, Erasmo, Filippo, Pinto E Vairo, Eva, Morava, A James, Barkovich, Joseph, Gonzalez-Heydrich, Catherine A, Brownstein, Steven A, McCarroll, Christopher A, Walsh

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: Adult, Male, developmental channelopathy, Neocortex, Fetus, Interneurons, Genetics, Humans, RNA, Messenger, polymicrogyria, Child, Neurons, cortex development, cortical malformation, Infant, Newborn, Brain, Gene Expression Regulation, Developmental, Infant, ATP1A3, Biological Sciences, Magnetic Resonance Imaging, Parvalbumins, Phenotype, Mutation, Female, Single-Cell Analysis, Sodium-Potassium-Exchanging ATPase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::af1f9e50c5fbe1aa916dee7cbe8759c7
https://pubmed.ncbi.nlm.nih.gov/34161264

المؤلفون: Melissa Goldman, Steven A. McCarroll, Casella B. Erasmo, Marta Florio, Catherine A. Brownstein, Luis Bello-Espinosa, Nora Reed, Shyam K. Akula, Yidi Wang, R. Sean Hill, Filippo Vairo, Laura Flores-Sarnat, A. James Barkovich, Richard S. Smith, Christopher D. Mullally, Christopher A. Walsh, Eva Morava, Fabiola Paoli Monteiro, Joseph Gonzalez-Heydrich, Jennifer E. Neil

المصدر: Proceedings of the National Academy of Sciences. 118

مصطلحات موضوعية: Multidisciplinary, Neocortex, Biology, Cell biology, Laminar organization, medicine.anatomical_structure, Cerebral cortex, Cortex (anatomy), Subplate, ATP1A3, medicine, biology.protein, Na+/K+-ATPase, Parvalbumin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c6de18d8331d117633975f361d3c7aa2
https://doi.org/10.1073/pnas.2023333118

المؤلفون: Rachel E. Reiff, Bassam R. Ali, Byron Baron, Timothy W. Yu, Salma Ben-salem, Michael E. Coulter, Christian R. Schubert, R. Sean Hill, Nadia A. Akawi, Banan Al-younes, Namik Kaya, Gilad D. Evrony, Muna Al-saffar, Ganeshwaran H. Mochida

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://walshlab.org/uploads/publications/251/2014hummolgenetmettl23reiffalialgazalimochida19feb14.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.658.4934; http://walshlab.org/uploads/publications/251/2014hummolgenetmettl23reiffalialgazalimochida19feb14.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.658.4934
http://walshlab.org/uploads/publications/251/2014hummolgenetmettl23reiffalialgazalimochida19feb14.pdf

المؤلفون: Luis Bello-Espinosa, Jennifer E. Neil, Steven A. McCarroll, Catherine A. Brownstein, Shyam K. Akula, Melissa Goldman, Fabiola Paoli Monteiro, R. Sean Hill, Joseph Gonzalez-Heydrich, Marta Florio, Filippo Vairo, Yidi Wang, Casella B. Erasmo, A. James Barkovich, Eva Morava, Laura Flores-Sarnat, Christopher A. Walsh, Christopher D. Mullally, Nora Reed, Richard S. Smith

مصطلحات موضوعية: Laminar organization, medicine.anatomical_structure, Neocortex, Cerebral cortex, Subplate, medicine, Premovement neuronal activity, ATP1B1, Na+/K+-ATPase, Biology, Cell biology, G alpha subunit

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e1b737098b9724205a87bfa82b43a68
https://doi.org/10.1101/2020.10.03.319137

المؤلفون: Richard S. Smith, Kiely N. James, Ganeshwaran H. Mochida, Matthew P. Harris, R. Sean Hill, Xiaochang Zhang, Christopher A. Walsh, Lihadh Al-Gazali, Lydie Burglen, Nicole E. Hatem, Tipu Sultan, Michael E. Coulter, Ellen M DeGennaro, Anna Rajab, Muna Al-Saffar, A. Stacy Kamumbu, Katrin Henke, Jacqueline Aziza, A. James Barkovich, Jennifer N. Partlow, Damir Musaev, Nicolas Chassaing, Joseph G. Gleeson, Maha S. Zaki

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 6
Genetics in Medicine

مصطلحات موضوعية: Microcephaly, EXOC7, Intellectual and Developmental Disabilities (IDD), 1.1 Normal biological development and functioning, Clinical Sciences, Exocyst, Biology, EXOC8, Neurodegenerative, Article, Mice, Rare Diseases, Clinical Research, Underpinning research, Ciliogenesis, medicine, Genetics, Animals, Humans, 2.1 Biological and endogenous factors, microcephaly, Aetiology, Intellectual and Developmental Disabilities, Zebrafish, Genetics (clinical), Cell Proliferation, Pediatric, Genetics & Heredity, Brain Diseases, Homozygote, Neurosciences, Disease gene identification, medicine.disease, biology.organism_classification, Cell biology, Brain Disorders, developmental delay, medicine.anatomical_structure, exocyst, Mental Health, Cerebral cortex, Neurological, Congenital Structural Anomalies, Cytokinesis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3edcbc7904848c94002ea52e230736c2
https://escholarship.org/uc/item/5tn3w50f

المؤلفون: Maria H. Chahrour, Timothy W. Yu, Elaine T. Lim, Bulent Ataman, Michael E. Coulter, R. Sean Hill, Christine R. Stevens, Christian R. Schubert, Arra Autism Sequencing, Michael E. Greenberg, Stacey B. Gabriel, Christopher A. Walsh

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://walshlab.org/uploads/publications/226/2012pgenwholeexomesequecningchahrouryu.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.657.9019; http://walshlab.org/uploads/publications/226/2012pgenwholeexomesequecningchahrouryu.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.657.9019
http://walshlab.org/uploads/publications/226/2012pgenwholeexomesequecningchahrouryu.pdf

المؤلفون: Stacey Gabriel, Ganeshwaran H. Mochida, Connor J. Kenny, Raida Khalil, Lihadh Al-Gazali, Christopher A. Walsh, Jennifer N. Partlow, R. Sean Hill, Ramzi Nasir, Brenda J. Barry, Christine Stevens, Maria H. Chahrour, Jay W. Ellison, A. James Barkovich, Muna Al-Saffar, Chloe Egan

المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177:736-745

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proteasome Endopeptidase Complex, Adolescent, Autism Spectrum Disorder, Nonsense mutation, Neurogenetics, Haploinsufficiency, Biology, medicine.disease_cause, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Neurodevelopmental disorder, Intellectual Disability, Exome Sequencing, medicine, Humans, Family, Genetic Predisposition to Disease, Autistic Disorder, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, Siblings, medicine.disease, Pedigree, Psychiatry and Mental health, 030104 developmental biology, Neurodevelopmental Disorders, Autism spectrum disorder, Child, Preschool, Female, PSMD12

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5026be0452448ef7aabd3ad61d38f56d
https://doi.org/10.1002/ajmg.b.32688

المؤلفون: M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin-parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel-vanagaite, Mohamed Z. Seidahmed, Mustafa A. M. Salih, William B. Dobyns, Christopher A. Walsh

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.walshlab.org/pdf/ethnically_diverse_causes_of_WWS.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.520.7084; http://www.walshlab.org/pdf/ethnically_diverse_causes_of_WWS.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.520.7084
http://www.walshlab.org/pdf/ethnically_diverse_causes_of_WWS.pdf

المؤلفون: Russell J Ferland, Wafaa Eyaid, Randall V Collura, Laura D Tully, R Sean Hill, Doha Al-Nouri, Ahmed Al-Rumayyan, Meral Topcu, Generoso Gascon, Adria Bodell, Yin Yao Shugart, Maryellen Ruvolo, Christopher A Walsh

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.walshlab.org/uploads/files/AH1FerlandNatureGenetics2004JoubertSynd.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1048.1437; http://www.walshlab.org/uploads/files/AH1FerlandNatureGenetics2004JoubertSynd.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1048.1437
http://www.walshlab.org/uploads/files/AH1FerlandNatureGenetics2004JoubertSynd.pdf

المؤلفون: Jiang Wu, A. James Barkovich, Jiqiang Ling, Tojo Nakayama, Mary R. Andriola, R. Sean Hill, Ganeshwaran H. Mochida, Malak El-Quessny, Brenda J. Barry, Jody Weiss, Dylan J. Vaughan, Patricia Galvin-Parton, Jennifer N. Partlow

المصدر: Human Mutation. 38:1348-1354

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Aminoacylation, Biology, medicine.disease_cause, Compound heterozygosity, Article, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Exome Sequencing, Genetics, medicine, Protein biosynthesis, Humans, Amino Acid Sequence, Genetics (clinical), Exome sequencing, Mutation, Progressive microcephaly, Lennox Gastaut Syndrome, Spastic Paraplegia, Hereditary, Siblings, Alanine-tRNA Ligase, Infant, Electroencephalography, medicine.disease, Molecular biology, 030104 developmental biology, Child, Preschool, Protein Biosynthesis, Transfer RNA, Female, Spasms, Infantile, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dec8d0c4a302c1e06b5d5b29fdacc56
https://doi.org/10.1002/humu.23250

المؤلفون: Rajni Chibbar, Ganeshwaran H. Mochida, A. James Barkovich, Ulrich Tschulena, Jun Shen, R. Sean Hill, Gilad D. Evrony, Antonella Galli, Chloe Santos, Danielle Tierney, Sheldon Wiebe, M. Jocelyne Martel, Christopher A. Walsh, Jillian M. Richardson, Divya Jayaraman, Betty Anne Spooner, Patricia Blakley, Steven C. Ryu, Stefan Wiemann, Dianne Gerrelli, Dana Diudea, Michael E. Coulter, Timothy W. Yu, James Irvine, Edmond G. Lemire, Victoria Morrison, Rebecca D. Folkerth, Princess C. Elhosary, Diana G. Diaz, Anh Thu N. Lam, Rachel E. Rodin, Dwight R. Cordero, Christopher A. Robinson, Jennifer N. Partlow

المصدر: Genome Research. 27:1323-1335

مصطلحات موضوعية: 0301 basic medicine, Genetics, Cancer genome sequencing, Whole genome sequencing, Genome evolution, Genome project, Biology, Bioinformatics, Genome, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, Gene, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0a54f506629ee09ca150b18a609e5925
https://doi.org/10.1101/gr.219899.116

المؤلفون: Alicia B. Byrne, Laura Isacco, R. Sean Hill, Wojciech Wiszniewski, Kristin W. Barañano, A. James Barkovich, Anne O’Donnell, David G. Vossler, Julie S. Cohen, Christopher A. Walsh, Kirsty McWalter, Edward Stronge, Christopher J. Yuskaitis, Andrew Kodani, Mustafa Sahin, Dilenny M. Gonzalez, Gabrielle M. Sejourne, Edward Yang, Pawel Gawlinski, Jennifer N. Partlow, S. Ali Fatemi, Abbe Lai, Connor J. Kenny

المساهمون: Kodani, Andrew, Kenny, Connor, Lai, Abbe, Gonzalez, Dilenny M, Byrne, Alicia B, Walsh, Christopher A

المصدر: Neuron

مصطلحات موضوعية: Male, 0301 basic medicine, Oncogene Proteins, Fusion, Centriole, Cell, Lissencephaly, Neocortex, Nerve Tissue Proteins, Microtubules, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Cell Movement, medicine, Humans, pachygyria, genetics, Child, Centrioles, Neurons, biology, neurodevelopment, General Neuroscience, Cyclin-dependent kinase 5, Cyclin-Dependent Kinase 5, Microtubule cytoskeleton organization, medicine.disease, Cell biology, Cytoskeletal Proteins, 030104 developmental biology, Tubulin, medicine.anatomical_structure, centrosome, LCDK5, nervous system, Centrosome, Child, Preschool, biology.protein, Female, De novo, CEP85, 030217 neurology & neurosurgery, lissencephaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b762aa6ab6011c27bd4262d374ec7a9b
https://hdl.handle.net/11541.2/142192

المؤلفون: Taehwan Shin, Connor J. Kenny, Grazia M.S. Mancini, Carsten G. Bönnemann, R. Sean Hill, Christopher A. Walsh, Eva Andermann, Martina Wilke, Anna-Kaisa Anttonen, Ryan N. Doan, Ritva Paetau, Kiho Im, Anna-Elina Lehesjoki, Marie Claire Y. de Wit, Ahram Jang, László Sztriha, Rebeca Borges-Monroy, A. James Barkovich, Oili Salonen, Dina Amrom, Maria K. Lehtinen, Annapurna Poduri, Livija Medne, Jaakko Ignatius, Jennifer N. Partlow, Jonathan L. Hecht, Allen Y. Chen, Richard S. Smith, Vijay S. Ganesh

المساهمون: Clinical Genetics, Neurology, Anna-Elina Lehesjoki / Principal Investigator, Department of Medical and Clinical Genetics, Neuroscience Center, Medicum, Research Programme for Molecular Neurology, Research Programs Unit, University of Helsinki, Clinicum, Department of Diagnostics and Therapeutics, HUS Medical Imaging Center, Children's Hospital, Lastenneurologian yksikkö

المصدر: Neuron, 99(5), 905-+. Cell Press
Neuron, vol 99, iss 5

مصطلحات موضوعية: Male, 0301 basic medicine, PERISYLVIAN POLYMICROGYRIA, Neurodegenerative, Ion Channels, Sodium Channels, 3124 Neurology and psychiatry, SCN3A, Cell Movement, Cortex (anatomy), NAV1.3 Voltage-Gated Sodium Channel, Polymicrogyria, 2.1 Biological and endogenous factors, Psychology, SCN1A, Aetiology, Child, NEURONS, EPILEPSY, Pediatric, Cerebral Cortex, Cultured, General Neuroscience, Outer Radial Glia, Cortical Development, Middle Aged, Na(V)1.3, Pedigree, Na(V)1.1, medicine.anatomical_structure, Neurological, Female, Cognitive Sciences, ALPHA-SUBUNIT, RADIAL GLIA, Adult, EXPRESSION, REVERSE NA+/CA2+ EXCHANGE, Adolescent, Cells, 1.1 Normal biological development and functioning, Subventricular zone, Biology, Language Development, Article, CONTRIBUTES, 03 medical and health sciences, Channelopathy, Underpinning research, medicine, Animals, Speech, Humans, Preschool, Oromotor, Epilepsy, Neurology & Neurosurgery, Sodium channel, Sodium, Ferrets, Neurosciences, 3112 Neurosciences, Infant, Voltage-Gated Sodium Channel, IN-VITRO, Perinatal Period - Conditions Originating in Perinatal Period, Stem Cell Research, medicine.disease, Perisylvian polymicrogyria, Megalencephaly, ta3124, Brain Disorders, NEURAL PROGENITORS, HEK293 Cells, 030104 developmental biology, NAV1, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6650abc186a9dd259cef77d8521b9cf
https://pure.eur.nl/en/publications/f0512c72-5b9c-43cb-b5a8-7a5a09ef75f5

المؤلفون: Maria Barbara Pasanisi, Reza Azizi Malamiri, Elizabeth A. Sellars, Edmund Cauley, Rebecca Willaert, Laura E. Swan, Jeremy Dejardin, Khaloob Mushref, M. Chiara Manzini, Isabella Moroni, Francesco J. Conti, R. Sean Hill, Daniel P. S. Osborn, Marina Mora, Neda Mazaheri, Hamid Galehdari, Yalda Jamshidi, Reza Maroofian, Christopher J. Munn, Gholamreza Shariati, Jennifer N. Partlow, Thomas Voit, Heather L. Pond, Jaipreet Bharj

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Microcephaly, Glycosylation, Adolescent, Marinesco–Sjögren syndrome, Endoplasmic Reticulum, Microphthalmia, 03 medical and health sciences, Young Adult, Intellectual Disability, Report, medicine, Dystroglycan, Genetics, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Muscular dystrophy, Child, Dystroglycans, Muscle, Skeletal, Endoplasmic Reticulum Chaperone BiP, Genetics (clinical), Growth Disorders, Zebrafish, Spinocerebellar Degenerations, biology, Genetic heterogeneity, Brain, medicine.disease, Phosphoric Monoester Hydrolases, Pedigree, Disease Models, Animal, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, biology.protein, Congenital muscular dystrophy, Female, ITGA7, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e63b7a3c263b7b178152b93a8dfd80
https://openaccess.sgul.ac.uk/id/eprint/108451/13/1-s2.0-S0002929717300198-main.pdf

المؤلفون: Christine Stevens, Michael E. Zwick, Deepthi Rajagopalan, Mara Parellada, David J. Cutler, Li-San Wang, Norio Ozaki, Jinlu Cai, Lauren A. Weiss, Patricia Jiménez González, Jeffrey C. Barrett, Silvia De Rubeis, Helena Kilpinen, Alexander Kolevzon, Timothy W. Yu, Michael John Owen, Geraldine Dawson, Martin Schulte-Rüther, Jeremy R. Parr, Aarno Palotie, Eftichia Duketis, Lambertus Klei, Irene Lee, Bridget A. Fernandez, Aniko Sabo, Matthew W. State, Sarah Curran, Lucy Crooks, Chad M. Schafer, Avi Ma'ayan, Stephen Sanders, Evan T. Geller, Monica Biscaldi, Stephen W. Scherer, Christopher S. Poultney, Mark J. Daly, Patrick Bolton, Kaija Puura, Maria H. Chahrour, Michael Gill, Li Liu, Louise Gallagher, Ryan K. C. Yuen, Jack A. Kosmicki, Abraham Reichenberg, Christine M. Freitag, Shaun Purcell, Andreas G. Chiocchetti, Peter Szatmari, Sabine M. Klauck, Shih-Chen Fu, Christian R. Marshall, Joseph D. Buxbaum, Tarjinder Singh, Bernie Devlin, Chiao-Feng Lin, A. Ercument Cicek, Karola Rehnström, Pamela Sklar, Otto Valladares, Michael Sachse, Terho Lehtimäki, R. Sean Hill, Arthur P. Goldberg, A. Jeremy Willsey, Jing Lei, Branko Aleksic, Menachem Fromer, Yan Kou, Jessica M. Brownfeld, Annette Voran, Kathryn Roeder, Gerard D. Schellenberg, David Skuse, Thomas Lehner, Hilary Coon, Benjamin M. Neale, Iuliana Ionita-Laza, Kristiina Tammimies, Stephen J. Guter, Christopher A. Walsh, James S. Sutcliffe, Xin-Xin He, Alison L. McInnes, Emily L. Crawford, Nicholas G. Campbell, Angel Carracedo, R. Susan Walker, Edwin H. Cook, Kaitlin E. Samocha, Christina M. Hultman

المصدر: Nature

مصطلحات موضوعية: Male, Transcription, Genetic, Molecular Sequence Data, Mutation, Missense, SYNGAP1, Article, 03 medical and health sciences, 0302 clinical medicine, Transcriptional regulation, Odds Ratio, Humans, Exome, Genetic Predisposition to Disease, Amino Acid Sequence, Gene, Exome sequencing, Germ-Line Mutation, 030304 developmental biology, Regulation of gene expression, Genetics, 0303 health sciences, Multidisciplinary, biology, Chromatin Assembly and Disassembly, Chromatin, Histone, Child Development Disorders, Pervasive, Mutation, Synapses, biology.protein, Female, Nerve Net, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2af40051d43c8fefc19ce3594f553e4f
http://europepmc.org/articles/PMC4402723

المؤلفون: Gilad D, Evrony, Dwight R, Cordero, Jun, Shen, Jennifer N, Partlow, Timothy W, Yu, Rachel E, Rodin, R Sean, Hill, Michael E, Coulter, Anh-Thu N, Lam, Divya, Jayaraman, Dianne, Gerrelli, Diana G, Diaz, Chloe, Santos, Victoria, Morrison, Antonella, Galli, Ulrich, Tschulena, Stefan, Wiemann, M Jocelyne, Martel, Betty, Spooner, Steven C, Ryu, Princess C, Elhosary, Jillian M, Richardson, Danielle, Tierney, Christopher A, Robinson, Rajni, Chibbar, Dana, Diudea, Rebecca, Folkerth, Sheldon, Wiebe, A James, Barkovich, Ganeshwaran H, Mochida, James, Irvine, Edmond G, Lemire, Patricia, Blakley, Christopher A, Walsh

المصدر: Genome research. 27(8)

مصطلحات موضوعية: DNA Replication, Male, Mice, Knockout, Whole Genome Sequencing, Genetic Linkage, Sequence Analysis, RNA, RNA Splicing, Research, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Nuclear Proteins, Cell Cycle Proteins, Osteochondrodysplasias, Genomic Instability, Pedigree, Mice, Pregnancy, Mutation, Microcephaly, Animals, Humans, Female, Transcriptome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::029011ff8325456af381c7ebd6ca280b
https://pubmed.ncbi.nlm.nih.gov/28630177