Zobrazeno 1 - 10
of 158
pro vyhledávání: '"G. Bradley Schaefer"'
P354: An apparently new brain MRI finding in Sotos syndrome: Extensively dilated perivascular spaces
Autor:
Leah Wibecan, Angela Lin, Karen Buch, Otto Rapalino, Frances High, Ashley Wong, Dorit Koren, G. Bradley Schaefer, Danielle Pier
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100382- (2023)
Externí odkaz:
https://doaj.org/article/41f471931cf14006a3b77caaf749a163
Autor:
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chloe Mighton, Hillary M. Porter, Amy Siemon, Josh Silver, Shayna Svihovec, Chin-To Fong, Christina L. Grant, Jordan Lerner-Ellis, Kandamurugu Manickam, Suneeta Madan-Khetarpal, Shawn E. McCandless, Chantal F. Morel, G. Bradley Schaefer, Elizabeth M. Berry-Kravis, Ryan Gates, Natalia Gomez-Ospina, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Linyan Meng, Pengfei Liu, Daryl A. Scott, James R. Lupski, Christine M. Eng, Nan Wu, Bo Yuan
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract The histone H3 variant H3.3, encoded by two genes H3-3A and H3-3B, can replace canonical isoforms H3.1 and H3.2. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment. The role of H3.3 in somatic canc
Externí odkaz:
https://doaj.org/article/29cca276969242bdad121202e7d7f164
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Sidharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
Abstract TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation
Externí odkaz:
https://doaj.org/article/b671baf57f4d42619acfe5843fbbb345
Autor:
Jennifer C. Wong, Kameryn M. Butler, Lindsey Shapiro, Jacquelyn T. Thelin, Kari A. Mattison, Kathryn B. Garber, Paula C. Goldenberg, Shobana Kubendran, G. Bradley Schaefer, Andrew Escayg
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Numerous SCN8A mutations have been identified, of which, the majority are de novo missense variants. Most mutations result in epileptic encephalopathy; however, some are associated with less severe phenotypes. Mouse models generated by knock-in of hu
Externí odkaz:
https://doaj.org/article/f765ae8f391a48a3a868a1a5685cd432
Autor:
Jeffery L. Clothier, Amy N. Grooms, Patricia A. Porter-Gill, Pritmohinder S. Gill, G. Bradley Schaefer
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 6, p 886 (2022)
Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders and occurs in all racial, ethnic, and socioeconomic groups. Cutting-edge technologies are contributing to understanding genetic underpinnings in ASD. The r
Externí odkaz:
https://doaj.org/article/80440db301d746b1b4dd925afa825926
Autor:
Pritmohinder S. Gill, Amanda L. Elchynski, Patricia A. Porter-Gill, Bradley G. Goodson, Mary Ann Scott, Damon Lipinski, Amy Seay, Christina Kehn, Tonya Balmakund, G. Bradley Schaefer
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 4, p 599 (2022)
Neurodevelopmental disorders have steadily increased in incidence in the United States. Over the past decade, there have been significant changes in clinical diagnoses and treatments some of which are due to the increasing adoption of pharmacogenomic
Externí odkaz:
https://doaj.org/article/ebb8281eff514335a3d43fa1501502f6
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/9827b109ef8940f7bf82494873e7341a
Autor:
Pritmohinder S. Gill, Jeffery L. Clothier, Aravindhan Veerapandiyan, Harsh Dweep, Patricia A. Porter-Gill, G. Bradley Schaefer
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 9, p 848 (2021)
Autism Spectrum Disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders with a strong heritable genetic component. At present, ASD is diagnosed solely by behavioral criteria. Advances in genomic analysis have contributed to num
Externí odkaz:
https://doaj.org/article/cbc9a9190e0d43e898cf5515bba913cc
Autor:
Pritmohinder S. Gill, Feliciano B. Yu, Patricia A. Porter-Gill, Bobby L. Boyanton, Judy C. Allen, Jason E. Farrar, Aravindhan Veerapandiyan, Parthak Prodhan, Kevin J. Bielamowicz, Elizabeth Sellars, Andrew Burrow, Joshua L. Kennedy, Jeffery L. Clothier, David L. Becton, Don Rule, G. Bradley Schaefer
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 5, p 394 (2021)
Pharmacogenomics (PGx) is a growing field within precision medicine. Testing can help predict adverse events and sub-therapeutic response risks of certain medications. To date, the US FDA lists over 280 drugs which provide biomarker-based dosing guid
Externí odkaz:
https://doaj.org/article/3551a7c110ff4a06abf9d617ff2686c9
Autor:
G. Bradley Schaefer
Publikováno v:
International Journal of Molecular Sciences, Vol 17, Iss 9, p 1572 (2016)
The author wishes to make a change to the published paper [1].[...]
Externí odkaz:
https://doaj.org/article/366e74806ced48b6b8b91aec46331c31