Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Rebecca M. Pollak"'
Autor:
Rebecca M. Pollak, Jordan E. Pincus, T. Lindsey Burrell, Joseph F. Cubells, Cheryl Klaiman, Melissa M. Murphy, Celine A. Saulnier, Elaine F. Walker, Stormi Pulver White, Jennifer G. Mulle
Publikováno v:
Molecular Autism, Vol 13, Iss 1, Pp 1-14 (2022)
Abstract Background The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability
Externí odkaz:
https://doaj.org/article/0ca839503387432397a107323f7c784f
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:
Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman, Anna S. Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Alexander Kolevzon, Joseph D. Buxbaum, Simon K. Warfield, Benoit Scherrer, Rajna Filip-Dhima, Kira Dies, Paige Siper, Ellen Hanson, Jennifer M. Phillips
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100145- (2023)
Summary: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused at least in part by haploinsufficiency of the SHANK3 gene, due to sequence variants in SHANK3 or subtelomeric 22q13.3 deletions. Phenotypic differences have been rep
Externí odkaz:
https://doaj.org/article/3468f77f03d1418b9e1044467e8fe3e3
Autor:
Rebecca M. Pollak, Melissa M. Murphy, Michael P. Epstein, Michael E. Zwick, Cheryl Klaiman, Celine A. Saulnier, the Emory 3q29 Project, Jennifer G. Mulle
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-15 (2019)
Abstract Background The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic s
Externí odkaz:
https://doaj.org/article/e810089320424ea9b9e8897155820db0
Autor:
Rebecca M Pollak, Jacob C Tilmon, Melissa M Murphy, Michael J Gambello, Rossana Sanchez Russo, John P Dormans, Jennifer G Mulle
3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000–197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::437f5e6ec02607ad85ffcae9c0df86fc
https://doi.org/10.1101/2023.04.03.23288084
https://doi.org/10.1101/2023.04.03.23288084
Autor:
Rebecca M Pollak, T Lindsey Burrell, Joseph F Cubells, Cheryl Klaiman, Melissa M Murphy, Celine A Saulnier, Elaine F Walker, Stormi Pulver White, Jennifer G Mulle
Background3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric phenotypes. Mild to moderate intellectual disability (ID) is common in this population, and previous work by our
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::064ab2dcd1d145e3fd7a1be86cdd9367
https://doi.org/10.1101/2023.03.31.23288022
https://doi.org/10.1101/2023.03.31.23288022
Autor:
Rebecca M Pollak, Jordan E Pincus, T Lindsey Burrell, Joseph F Cubells, Cheryl Klaiman, Melissa M Murphy, Celine A Saulnier, Elaine F Walker, Stormi Pulver White, Jennifer G Mulle
BackgroundThe 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6cb16ce7c4c246b3bbbb67c35baafee
https://doi.org/10.1101/2022.11.01.22281767
https://doi.org/10.1101/2022.11.01.22281767
Autor:
Jennifer G. Mulle, Scott Gillespie, Addam J. Wawrzonek, Rebecca M Pollak, Emory q, Teresa Lindsey Burrell, Melissa M. Murphy, William G. Sharp
Publikováno v:
Journal of Developmental & Behavioral Pediatrics. 43:e170-e178
OBJECTIVE The goal of this study was to evaluate symptoms of pediatric feeding disorder in a sample of individuals with 3q29 deletion syndrome (3q29Del). Previous research has found that individuals with 3q29Del may experience elevated feeding concer
Autor:
Rebecca M Pollak, T Lindsey Burrell, Joseph F Cubells, Cheryl Klaiman, Melissa M Murphy, Celine A Saulnier, Elaine F Walker, Stormi Pulver White, Jennifer G Mulle
Purpose3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. We previously reported that graphomotor weakness is present in up to 78% of individuals with 3q29del. We have now explored nuances of the g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e7d356a7293096a227c2ccf65b7cc4c
https://doi.org/10.1101/2022.09.15.508134
https://doi.org/10.1101/2022.09.15.508134
Autor:
Rebecca M Pollak, Emory q, Michael E. Zwick, Michael C Zinsmeister, Jennifer G. Mulle, Melissa M. Murphy
Publikováno v:
Am J Med Genet A
3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000-197,623,000). Case reports indicate the 3q29dup is likely to be pathogenic, but the full range of manifestations is not well unders