Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Anthony W. Zoghbi"'
Publikováno v:
Molecular Psychiatry. 28:168-190
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07701e63ec28952f8c6e6bce6c68ba85
https://doi.org/10.1038/s41380-022-01718-0
https://doi.org/10.1038/s41380-022-01718-0
Autor:
Abhishek Nag, Ryan S. Dhindsa, Jonathan Mitchell, Chirag Vasavda, Andrew R. Harper, Dimitrios Vitsios, Andrea Ahnmark, Bilada Bilican, Katja Madeyski-Bengtson, Bader Zarrouki, Anthony W. Zoghbi, Quanli Wang, Katherine R. Smith, Jesus Alegre-Díaz, Pablo Kuri-Morales, Jaime Berumen, Roberto Tapia-Conyer, Jonathan Emberson, Jason M. Torres, Rory Collins, David M. Smith, Benjamin Challis, Dirk S. Paul, Mohammad Bohlooly-Y, Mike Snowden, David Baker, Regina Fritsche-Danielson, Menelas N. Pangalos, Slavé Petrovski
We performed collapsing analyses on 454,796 UK Biobank (UKB) exomes to detect gene-level associations with diabetes. Recessive carriers of nonsynonymous variants in MAP3K15 were 30% less likely to develop diabetes ( P = 5.7 × 10 −10 ) and had lowe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a682c76a1eca49d8219fc25c810730
https://doi.org/10.1126/sciadv.add5430
https://doi.org/10.1126/sciadv.add5430
Autor:
Anna R. Docherty, Vimla Aggarwal, James M. McNamara, Ayan Malakar, Daniel Hughes, Andrey A. Shabalin, Anat Grossman-Jonish, Lior Greenbaum, Gundula Povysil, Shannon Delaney, Hann-Shyan Hwang, Evan H. Baugh, David Goldstein, Anna Alkelai, Emma P. Peabody, Matthew B. Harms, Sahar Gelfman, Bernard Lerer, Vaidehi Jobanputra, Ann E. Pulver, Anthony W. Zoghbi, Erin L. Heinzen
Publikováno v:
Molecular Psychiatry. 27:1435-1447
Schizophrenia has a multifactorial etiology, involving a polygenic architecture. The potential benefit of whole genome sequencing (WGS) in schizophrenia and other psychotic disorders is not well studied. We investigated the yield of clinical WGS anal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::272b15da584e5c9c1345b62e95aaea0b
https://doi.org/10.1038/s41380-021-01383-9
https://doi.org/10.1038/s41380-021-01383-9
Autor:
Ryan S. Dhindsa, Blake Weido, Justin S. Dhindsa, Arya J. Shetty, Chloe Sands, Slavé Petrovski, Dimitrios Vitsios, Anthony W. Zoghbi
Despite great progress in the identification of neurodevelopmental disorder (NDD) risk genes, there are thousands that remain to be discovered. Computational tools that provide accurate gene-level predictions of NDD risk can significantly reduce the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b598b09a50696375e27f7f0c446290d0
https://doi.org/10.1101/2022.11.21.517436
https://doi.org/10.1101/2022.11.21.517436
Autor:
Abhishek, Nag, Ryan S, Dhindsa, Jonathan, Mitchell, Chirag, Vasavda, Andrew R, Harper, Dimitrios, Vitsios, Andrea, Ahnmark, Bilada, Bilican, Katja, Madeyski-Bengtson, Bader, Zarrouki, Anthony W, Zoghbi, Quanli, Wang, Katherine R, Smith, Jesus, Alegre-Díaz, Pablo, Kuri-Morales, Jaime, Berumen, Roberto, Tapia-Conyer, Jonathan, Emberson, Jason M, Torres, Rory, Collins, David M, Smith, Benjamin, Challis, Dirk S, Paul, Mohammad, Bohlooly-Y, Mike, Snowden, David, Baker, Regina, Fritsche-Danielson, Menelas N, Pangalos, Slavé, Petrovski
Publikováno v:
Science advances. 8(46)
We performed collapsing analyses on 454,796 UK Biobank (UKB) exomes to detect gene-level associations with diabetes. Recessive carriers of nonsynonymous variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c4253917523cf928c5c5687ddd04079e
https://pubmed.ncbi.nlm.nih.gov/36383675
https://pubmed.ncbi.nlm.nih.gov/36383675
Autor:
Jack Samuels, Anthony W. Zoghbi, Benjamin D. Greenberg, O. Joseph Bienvenu, James T. McCracken, Ying Wang, Marco A. Grados, Mark A. Riddle, Fernando S. Goes, Tess D. Pottinger, James A. Knowles, Brion S. Maher, Abby J. Fyer, Daniel A. Geller, Janice Krasnow, Mathew Halvorsen, Gerald Nestadt, David Goldstein, Paul S. Nestadt
Publikováno v:
Nature Neuroscience. 24:1071-1076
Obsessive–compulsive disorder (OCD) affects 1–2% of the population, and, as with other complex neuropsychiatric disorders, it is thought that rare variation contributes to its genetic risk. In this study, we performed exome sequencing in the larg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8733d3d713e35ea3120c28a009c401e
https://doi.org/10.1038/s41593-021-00876-8
https://doi.org/10.1038/s41593-021-00876-8
Publikováno v:
Ann Neurol
Advances in genetic discoveries have created substantial opportunities for precision medicine in neurodevelopmental disorders. Many of the genes implicated in these diseases encode proteins that regulate gene expression, such as chromatin-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855978affc4f38060c52454e29471193
https://doi.org/10.1002/ana.25950
https://doi.org/10.1002/ana.25950
Publikováno v:
Molecular psychiatry.
Duration of untreated psychosis (DUP) is defined as the time from the onset of psychotic symptoms until the first treatment. Studies have shown that longer DUP is associated with poorer response rates to antipsychotic medications and impaired cogniti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8b33697e0046970240470d2f5567f7b0
https://pubmed.ncbi.nlm.nih.gov/35931757
https://pubmed.ncbi.nlm.nih.gov/35931757
Autor:
Cheryl Corcoran, Michael D. Masucci, Allegra Califano, Justin Segovia, Anthony W. Zoghbi, Julia Gleichman, Tiziano Colibazzi, Michael B. First, Joel Bernanke, Gary Brucato, Ragy R. Girgis
Publikováno v:
J Psychiatr Res
The Attenuated Psychosis Syndrome (APS), proposed as a condition warranting further study in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), is a controversial diagnostic construct originally developed to ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa522699e4de3b2db076723f4fd0b08b
https://doi.org/10.1016/j.jpsychires.2019.04.018
https://doi.org/10.1016/j.jpsychires.2019.04.018
Advances in genetic discoveries have created substantial opportunities for precision medicine in neurodevelopmental disorders. Many of the genes implicated in these diseases encode proteins that regulate gene expression, such as chromatin associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3aa683512f2f69367849a5965c000c62
https://doi.org/10.1101/2020.05.13.093468
https://doi.org/10.1101/2020.05.13.093468