Zobrazeno 1 - 10
of 501
pro vyhledávání: '"Sarah H. Elsea"'
Autor:
Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the mitochondrial arginyl-transfer RNA synthetase 2 (RARS2, MIM *611524, NM_0
Externí odkaz:
https://doaj.org/article/c1565656a57247c794a00bb588623cd0
Autor:
Kevin E. Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P. Mackay, Kirt A. Martin, Phillip L. Pearl, K. Michael Gibson, Theresa A. Wilson, V. Reid Sutton, Sarah H. Elsea
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence o
Externí odkaz:
https://doaj.org/article/29eec710b9ad4cdf9ea448935aba96f4
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101857- (2024)
Purpose: Discrepancies exist between the need to lock food away and satiety scores in the Smith-Magenis syndrome (SMS) population. This study sought to uncover food-related behaviors within this unique group of individuals. Methods: Caregivers (N = 2
Externí odkaz:
https://doaj.org/article/195ead78606c460da5d0a1656f7c6455
Autor:
Rulan Shaath, Aljazi Al-Maraghi, Haytham Ali, Jehan AlRayahi, Adam D. Kennedy, Karen L. DeBalsi, Sura Hussein, Najwa Elbashir, Sujitha S. Padmajeya, Sasirekha Palaniswamy, Sarah H. Elsea, Ammira A. Akil, Noha A. Yousri, Khalid A. Fakhro
Publikováno v:
Metabolites, Vol 14, Iss 3, p 152 (2024)
Multi-omics approaches, which integrate genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools in the diagnosis of rare diseases. We used untargeted metabolomics and whole-genome sequencing (WGS) to gain a more compre
Externí odkaz:
https://doaj.org/article/363621f47bd04b7991f4b0b899d83913
Autor:
Aayushi Gandhi, Sarah H. Elsea
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/3352290c35ca495db90536c51854ce97
Autor:
Eran Tallis, Cecile L. Karsenty, Amanda B. Grimes, Lina B. Karam, Sarah H. Elsea, Vernon Reed Sutton, Brandy L. Rawls‐Castillo, Ning Liu, Claudia Soler‐Alfonso
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 309-315 (2022)
Abstract Glycogen storage disease type Ib (GSD‐Ib) is a rare inborn error of glycogen metabolism uniquely associated with neutropenia and neutrophil dysfunction, causing severe infections, inflammatory bowel disease (IBD), and impaired wound healin
Externí odkaz:
https://doaj.org/article/50ae9cea9a614d9b90f369eee6453daa
Autor:
Lillian R. Thistlethwaite, Xiqi Li, Lindsay C. Burrage, Kevin Riehle, Joseph G. Hacia, Nancy Braverman, Michael F. Wangler, Marcus J. Miller, Sarah H. Elsea, Aleksandar Milosavljevic
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
Abstract Untargeted metabolomics is a global molecular profiling technology that can be used to screen for inborn errors of metabolism (IEMs). Metabolite perturbations are evaluated based on current knowledge of specific metabolic pathway deficiencie
Externí odkaz:
https://doaj.org/article/310f472f536f4ec6800d411142c0cff3
Autor:
Sureni V. Mullegama, Steven D. Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad Haldeman-Englert, Julian A. Martinez-Agosto, Ying Yang, Yuchen Tian, Sarah H. Elsea, Toshihiko Ezashi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract MBD5-associated neurodevelopmental disorder (MAND) is an autism spectrum disorder (ASD) characterized by intellectual disability, motor delay, speech impairment and behavioral problems; however, the biological role of methyl-CpG-binding doma
Externí odkaz:
https://doaj.org/article/e6d18d28ad8c4705b934f15392ca5b20
Autor:
Giavanna Verdi, Dong Li, Sarah H. Elsea, Beverly Nelson, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine R. Yearwood, Sharmila Upadhya, Sarah Gluschitz, Janice L. Smith, Andrew K. Sobering
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations may cause congenital malformations and intellectual disability of varying severit
Externí odkaz:
https://doaj.org/article/50cc2808f9d749c4adc6877f09aa25b5
Autor:
Lillian R. Thistlethwaite, Varduhi Petrosyan, Xiqi Li, Marcus J. Miller, Sarah H. Elsea, Aleksandar Milosavljevic
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 10 (2021)
Externí odkaz:
https://doaj.org/article/e61518c26c7a407298f8c345d2100a61