Fernando Scaglia

ScholarGPS® ID: 43527021175250

Highly Ranked Scholar - Lifetime:

#60

Molecular genetics

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Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

187

Predicted Citations

11,553

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation (journal article) Zemet, Roni \| Hope, Kyle D. \| Edmondson, Andrew C. \| Shah, Rameen \| Patino, Maria \| Yesso, Abigail M. \| Berger, Justin H. \| Sarafoglou, Kyriakie \| Larson, Austin \| Lam, Christina \| ... \| Scaglia, Fernando Molecular Genetics and Metabolism, volume 142, issue 4, pages 108513- (2024). 10.1016/j.ymgme.2024.108513 Cite \| Source
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2 ‐related mitochondrial disease (journal article) Gerard, Amanda \| Mizerik, Elizabeth \| Mohila, Carrie A. \| AlAwami, Sarah \| Hunter, Jill V. \| Kearney, Debra L. \| Lalani, Seema R. \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 194, issue 7 (2024). 10.1002/ajmg.a.63589 Cite \| Source
Hyperkinetic Movement Disorder Caused by the Recurrent c. 892C >T NACC1 Variant (journal article) Komulainen‐Ebrahim, Jonna \| Kangas, Salla M. \| López‐Martín, Estrella \| Feyma, Timothy \| Scaglia, Fernando \| Martínez‐Delgado, Beatriz \| Kuismin, Outi \| Suo‐Palosaari, Maria \| Carr, Lucinda \| Hinttala, Reetta \| ... \| Uusimaa, Johanna Movement Disorders Clinical Practice, volume 11, issue 6, pages 708-715 (2024). 10.1002/mdc3.14051 Cite \| Source
Expanded Clinical Phenotype and Untargeted Metabolomics Analysis in RARS2-related Mitochondrial Disorder (P2-8.003) (journal article) Walimbe, Ameya \| Machol, Keren \| Kralik, Stephen \| Mizerik, Elizabeth \| Gofin, Yoel \| Bekheirnia, Mir Reza \| Gijavanekar, Charul \| Elsea, Sarah \| Emrick, Lisa \| Scaglia, Fernando Neurology, volume 102, issue 17_supplement_1 (2024). 10.1212/WNL.0000000000205423 Cite \| Source
Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamine transporter deficiency (journal article) Walimbe, Ameya \| Wasko, Emily \| Mackay, Laura \| Miller, Marcus \| Gijavanekar, Charul \| Elsea, Sarah H. \| Scaglia, Fernando Molecular Genetics and Metabolism, volume 141, issue 4, pages 108332- (2024). 10.1016/j.ymgme.2024.108332 Cite \| Source
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report (journal article) Walimbe, Ameya S. \| Machol, Keren \| Kralik, Stephen F. \| Mizerik, Elizabeth A. \| Gofin, Yoel \| Bekheirnia, Mir Reza \| Gijavanekar, Charul \| Elsea, Sarah H. \| Emrick, Lisa T. \| Scaglia, Fernando BMC Neurology, volume 24, issue 1 (2024). 10.1186/s12883-024-03571-w Cited by (1) \| Cite \| Source
Heteroplasmic pathogenic m. 12315G >A variant in MT‐TL2 presenting with MELAS syndrome and depletion of nitric oxide donors (journal article) Snyder, Matthew T. \| Manor, Joshua \| Gijavanekar, Charul \| Mizerik, Elizabeth \| Kralik, Stephen F. \| Elsea, Sarah H. \| Machol, Keren \| Emrick, Lisa \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 194, issue 3 (2024). 10.1002/ajmg.a.63461 Cite \| Source
P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure (journal article) Rossi, Vittoria \| Brooks, Dan \| Dai, Hongzheng \| Mizerik, Elizabeth \| Ben-Moshe, Yishay \| Lalani, Seema \| Scott, Daryl \| Scaglia, Fernando \| Machol, Keren \| Bekheirnia, Mir Reza Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.100927 Cite \| Source
P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency (journal article) Walimbe, Ameya \| Waskow, Emily \| Mackay, Laura \| Gijavanekar, Charul \| Miller, Marcus \| Elsea, Sarah \| Scaglia, Fernando Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.100893 Cite \| Source
Novel phenotype of aortic root dilatation and late‐onset metabolic decompensation in a patient with TMEM70 deficiency (journal article) Mackay, Laura \| Gijavanekar, Charul \| Streff, Haley \| Price, Jack F. \| Elsea, Sarah H. \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 191, issue 5, pages 1366-1372 (2023). 10.1002/ajmg.a.63131 Cited by (3) \| Cite \| Source
SUCCESSFUL OUTPATIENT TRANSITION TO EXTENDED-RELEASE CORNSTARCH IN PATIENTS WITH GLYCOGEN STORAGE DISEASE (journal article) Snyder, Matthew \| Rawls-Castillo, Brandy \| Aquino, Nathaly \| Al-shwaf, Sarah \| Craigen, William \| Scaglia, Fernando \| Sutton, V. Reid \| Soler-Alfonso, Claudia Molecular Genetics and Metabolism, volume 138, issue 3, pages 107491- (2023). 10.1016/j.ymgme.2023.107491 Cite \| Source
Expansion of the clinical and molecular spectrum of WWOX ‐related epileptic encephalopathy (journal article) Chong, Shuk Ching \| Cao, Ye \| Fung, Eva L. W. \| Kleppe, Soledad \| Gripp, Karen W. \| Hertecant, Jozef \| El‐Hattab, Ayman W. \| Suleiman, Jehan \| Clark, Gary \| von Allmen, Gretchen \| ... \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 191, issue 3, pages 776-785 (2023). 10.1002/ajmg.a.63074 Cited by (3) \| Cite \| Source
Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia (journal article) Gofin, Yoel \| Zhao, Xiaonan \| Gerard, Amanda \| Scaglia, Fernando \| Wangler, Michael F. \| Schrier Vergano, Samantha A. \| Scott, Daryl A. American Journal of Medical Genetics Part A, volume 188, issue 9, pages 2718-2723 (2022). 10.1002/ajmg.a.62889 Cited by (4) \| Cite \| Source
Mitochondrial DNA maintenance defects: potential therapeutic strategies (journal article) Almannai, Mohammed \| El-Hattab, Ayman W. \| Azamian, Mahshid S. \| Ali, May \| Scaglia, Fernando Molecular Genetics and Metabolism, volume 137, issue 1-2, pages 40-48 (2022). 10.1016/j.ymgme.2022.07.003 Cited by (4) \| Cite \| Source
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient (journal article) Manor, Joshua \| Calame, Daniel G. \| Gijavanekar, Charul \| Tran, Alyssa \| Fatih, Jawid M. \| Lalani, Seema R. \| Mizerik, Elizabeth \| Parnes, Mered \| Mehta, Vidya P. \| Adesina, Adekunle M. \| ... \| Elsea, Sarah H. Brain, volume 145, issue 5, pages e36-e40 (2022). 10.1093/brain/awac065 Cited by (7) \| Cite \| Source
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC) (journal article) Emmanuele, Valentina \| Ganesh, Jaya \| Vladutiu, Georgirene \| Haas, Richard \| Kerr, Douglas \| Saneto, Russell P. \| Cohen, Bruce H. \| Van Hove, Johan L.K. \| Scaglia, Fernando \| Hoppel, Charles \| ... \| Hirano, Michio Molecular Genetics and Metabolism, volume 136, issue 2, pages 125-131 (2022). 10.1016/j.ymgme.2022.05.001 Cited by (9) \| Cite \| Source
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction (journal article) Manor, Joshua \| Calame, Daniel \| Gijavanekar, Charul \| Fisher, Kristen \| Hunter, Jill \| Mizerik, Elizabeth \| Bacino, Carlos \| Scaglia, Fernando \| Elsea, Sarah H. Molecular Genetics and Metabolism, volume 136, issue 2, pages 101-110 (2022). 10.1016/j.ymgme.2022.04.003 Cited by (8) \| Cite \| Source
eP025: Novel phenotype of aortic root dilatation and late onset of metabolic decompensation in patient with TMEM70 deficiency (journal article) Mackay, Laura \| Scaglia, Fernando \| Streff, Haley Genetics in Medicine, volume 24, issue 3, pages S17- (2022). 10.1016/j.gim.2022.01.063 Cite \| Source
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease (journal article) Karaa, Amel \| MacMullen, Laura E. \| Campbell, John C. \| Christodoulou, John \| Cohen, Bruce H. \| Klopstock, Thomas \| Koga, Yasutoshi \| Lamperti, Costanza \| van Maanen, Rob \| McFarland, Robert \| ... \| Falk, Marni J. Advanced Genetics, volume 3, issue 1 (2022). 10.1002/ggn2.202100047 Cited by (2) \| Cite \| Source
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay (journal article) Odom, John \| Amin, Hitha \| Gijavanekar, Charul \| Elsea, Sarah H. \| Kralik, Stephen \| Chinen, Javier \| Lin, Yuezhen \| Yates, Amber Meshell Mayfield \| Mizerik, Elizabeth \| Potocki, Lorraine \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 188, issue 1, pages 259-268 (2022). 10.1002/ajmg.a.62482 Cited by (5) \| Cite \| Source

Title	Investigators	Year	Cost	Agency
ARGININE FLUX AND NITRIC OXIDE PRODUCTION IN SUBJECTS WITH MELAS SYNDROME	Scaglia, Fernando	2011	$98,149	NATIONAL CENTER FOR RESEARCH RESOURCES
ARGININE FLUX AND NITRIC OXIDE PRODUCTION IN SUBJECTS WITH MELAS SYNDROME	Scaglia, Fernando	2010	$27,850	NATIONAL CENTER FOR RESEARCH RESOURCES