Sarah H. Elsea - Departments of Pediatrics and Human and Molecular Genetics Medical College of Virginia, Virginia Commonwealth University

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论文共 253 篇作者统计合作学者相似作者

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P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency

Ameya Walimbe, Emily Waskow, Laura Mackay,Charul Gijavanekar,Marcus Miller,Sarah Elsea,Fernando Scaglia

Genetics in Medicine Open (2024): 100893

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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder

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,

Metabolitesno. 3 (2024): 152

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P396: Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain

Kenyon Agrons, Gracie Hufft,Sarah Elsea,Christopher Ward, Kathleen McDowell-Takahashi

Genetics in Medicine Open (2024): 101290

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Memorial: William E. O’Brien, Ph.D

Sarah H. Elsea, Arthur L. Beaudet

Molecular Genetics and Metabolismno. 1 (2024): 108435

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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Itay Tokatly Latzer,Mariarita Bertoldi,Nenad Blau,Melissa L. DiBacco,Sarah H. Elsea,Àngels García-Cazorla,K. Michael Gibson,Andrea L. Gropman,Ellen Hanson, Carolyn Hoffman,Kathrin Jeltsch,Natalia Juliá-Palacios,

Molecular Genetics and Metabolism（2024）

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Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamine transporter deficiency

Ameya Walimbe, Emily Wasko,Laura Mackay,Marcus Miller,Charul Gijavanekar,Sarah H. Elsea,Fernando Scaglia

Molecular Genetics and Metabolismno. 4 (2024): 108332

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Memorial: William E. O'Brien, Ph.D

Sarah H Elsea, Arthur L Beaudet

Molecular genetics and metabolismno. 1 (2024): 108435-108435

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Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors

Matthew T. Snyder,Joshua Manor,Charul Gijavanekar,Elizabeth Mizerik,Stephen F. Kralik,Sarah H. Elsea,Keren Machol,Lisa Emrick,Fernando Scaglia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2024）

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Expanded clinical phenotype and untargeted metabolomics analysis in RARS2 -related mitochondrial disorder: a case report

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

BMC Neurologyno. 1 (2024): 1-8

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Comprehensive screening of blood-based biomarkers improves diagnosis of gaba catabolism abnormalities and highlights opportunities to reduce health disparities in genetic diagnosis

Charul Gijavanekar,Kevin E. Glinton,Kirt A. Martin,Theresa A. Wilson,Vernon R. Sutton,Sarah H. Elsea

MOLECULAR GENETICS AND METABOLISM（2023）

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