Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Ryan H. Purcell"'
Autor:
Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background High sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous recombination (NAHR). These CNVs are one of the fundamental causes of genomic disorders such as the
Externí odkaz:
https://doaj.org/article/e1441505fb324218b0dd9286ccd86457
Autor:
Rebecca M. Pollak, Ryan H. Purcell, Timothy P. Rutkowski, Tamika Malone, Kimberly J. Pachura, Gary J. Bassell, Michael P. Epstein, Paul A. Dawson, Matthew R. Smith, Dean P. Jones, Michael E. Zwick, Stephen T. Warren, Tamara Caspary, David Weinshenker, Jennifer G. Mulle
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes, including a 40-fold increased risk for schizophrenia. Reduced birth weight and a high prevalence of feeding disorders in patients suggest underlying metabo
Externí odkaz:
https://doaj.org/article/45761d0ab5754763bcdb5445206f521b
Autor:
Esra Sefik, Ryan H. Purcell, The Emory 3q29 Project, Elaine F. Walker, Gary J. Bassell, Jennifer G. Mulle
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other neurodevelopmental and psychiatric disorders. However, no single gene in this interval is definitively associated with disease, prompting the hypothesis that neuropsyc
Externí odkaz:
https://doaj.org/article/6a57f308932e48f480cafc16e8693925
Autor:
Ryan H. Purcell, Esra Sefik, Erica Werner, Alexia T. King, Trenell J. Mosley, Megan E. Merritt-Garza, Pankaj Chopra, Zachary T. McEachin, Sridhar Karne, Nisha Raj, Brandon J. Vaglio, Dylan Sullivan, Bonnie L. Firestein, Kedamawit Tilahun, Maxine I. Robinette, Stephen T. Warren, Zhexing Wen, Victor Faundez, Steven A. Sloan, Gary J. Bassell, Jennifer G. Mulle
Publikováno v:
bioRxiv
Recent advances in the genetics of schizophrenia (SCZ) have identified rare variants that confer high disease risk, including a 1.6 Mb deletion at chromosome 3q29 with a staggeringly large effect size (O.R. > 40). Understanding the impact of the 3q29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7bfeb2ef48fe4d6982c802522e1c6ed
https://europepmc.org/articles/PMC9901184/
https://europepmc.org/articles/PMC9901184/
Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: 'We Can't Just Wish This Thing Away'
Autor:
Gary J. Bassell, Ryan H. Purcell, Melissa M. Murphy, Jennifer G. Mulle, Emory q, Megan R Glassford, Sarah Pass
Publikováno v:
J Dev Behav Pediatr
Objective Genetic diagnoses are increasingly common in cases of intellectual disability and developmental delay. Although ascertainment of a relatively common, well-studied variant may provide guidance related to treatments and developmental expectat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336249feea29f6498eb69d949bd468a2
https://doi.org/10.1097/dbp.0000000000000977
https://doi.org/10.1097/dbp.0000000000000977
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-14 (2021)
Translational Psychiatry
Translational Psychiatry
The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other neurodevelopmental and psychiatric disorders. However, no single gene in this interval is definitively associated with disease, prompting the hypothesis that neuropsychiatric s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8e36cdb5f308f40fb3fcff231cddf15
https://doaj.org/article/6a57f308932e48f480cafc16e8693925
https://doaj.org/article/6a57f308932e48f480cafc16e8693925
Autor:
Ryan H. Purcell, Stephen Sanders, Audrey Thurm, Jennifer Cable, Mustafa Sahin, Jacob A. S. Vorstman, Christa Lese Martin, Bina Maniar Shah, Elise B. Robinson, Jennifer G. Mulle, Carrie E. Bearden, Wendy K. Chung, John N. Constantino, Ricardo E. Dolmetsch
Publikováno v:
Annals of the New York Academy of Sciences, vol 1506, iss 1
Ann N Y Acad Sci
Ann N Y Acad Sci
Neurodevelopmental and neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia, have strong genetic risk components, but the underlying mechanisms have proven difficult to decipher. Rare, high-risk variants may offer an opportu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e7c8cbd0eb1cc9b44eeae84ff28a883
https://escholarship.org/uc/item/0gx8f83g
https://escholarship.org/uc/item/0gx8f83g
Autor:
Ryan H. Purcell, Timothy P Rutkowski, Stephen T. Warren, David Weinshenker, Michael P. Epstein, Jason P. Schroeder, Uswa A. Khan, Georgette M. Gafford, Tamara Caspary, Stephanie M. Grewenow, Rebecca M Pollak, Jennifer G. Mulle, Tamika Malone, Gary J. Bassell
Publikováno v:
Molecular psychiatry
The 3q29 deletion confers increased risk for neuropsychiatric phenotypes including intellectual disability, autism spectrum disorder, generalized anxiety disorder, and a >40-fold increased risk for schizophrenia. To investigate consequences of the 3q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eed358b24286dad7338a7c19bda4c24
https://doi.org/10.1038/s41380-019-0413-5
https://doi.org/10.1038/s41380-019-0413-5
Autor:
Rebecca M, Pollak, Ryan H, Purcell, Timothy P, Rutkowski, Tamika, Malone, Kimberly J, Pachura, Gary J, Bassell, Michael P, Epstein, Paul A, Dawson, Matthew R, Smith, Dean P, Jones, Michael E, Zwick, Stephen T, Warren, Tamara, Caspary, David, Weinshenker, Jennifer G, Mulle
Publikováno v:
Translational psychiatry. 12(1)
The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes, including a 40-fold increased risk for schizophrenia. Reduced birth weight and a high prevalence of feeding disorders in patients suggest underlying metabolic dysre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97bf9793a0652258e84604e3ed201b97
https://pubmed.ncbi.nlm.nih.gov/35177588
https://pubmed.ncbi.nlm.nih.gov/35177588
Autor:
Fu Hung Shiu, Jennifer C. Wong, Takahiro Yamamoto, Trisha Lala, Ryan H. Purcell, Sharon Owino, Dan Zhu, Erwin G. Van Meir, Randy A. Hall, Andrew Escayg
Publikováno v:
Exp Neurol
The adhesion G protein-coupled receptor BAI1/ADGRB1 plays an important role in suppressing angiogenesis, mediating phagocytosis, and acting as a brain tumor suppressor. BAI1 is also a critical regulator of dendritic spine and excitatory synapse devel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2afa399d29861f947d4900e1faa68822
https://doi.org/10.1016/j.expneurol.2022.113994
https://doi.org/10.1016/j.expneurol.2022.113994