Rebecca D. Ganetzky

ScholarGPS® ID: 14045479423366

Affiliation

Children's Hospital of Philadelphia

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

3,538

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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Manifestations of OXCT1 heterozygosity (journal article) Guzman, Herodes \| Murali, Chaya \| Yudkoff, Marc \| Ficicioglu, Can \| Ganetzky, Rebecca Molecular Genetics and Metabolism, volume 141, issue 4, pages 108343- (2024). 10.1016/j.ymgme.2024.108343 Cite \| Source
Use of dichloroacetate as novel therapy in ECHS1 deficiency (journal article) Jacob, Neil \| Ganesh, Jaya \| LoPiccolo, Mary Kate \| Ganetzky, Rebecca \| Waite, Jessica \| Elsharkawi, Ibrahim Molecular Genetics and Metabolism, volume 141, issue 4, pages 108315- (2024). 10.1016/j.ymgme.2024.108315 Cited by (1) \| Cite \| Source
Development of a semi-quantitative mitochondrial translation assay (journal article) Kong, Christine \| Cahill, Alan \| Ganetzky, Rebecca Molecular Genetics and Metabolism, volume 141, issue 4, pages 108284- (2024). 10.1016/j.ymgme.2024.108284 Cite \| Source
Biochemical diagnosis of fumarate hydratase (FH) deficiency (journal article) Madya, Monica \| Cahill, Alan \| Bloom, Kaitlyn \| Goldstein, Amy \| Fernandez, Luis \| Dobrowolski, Steven \| Vockley, Jerry \| Ganetzky, Rebecca Molecular Genetics and Metabolism, volume 141, issue 4, pages 108285- (2024). 10.1016/j.ymgme.2024.108285 Cite \| Source
Moral distress in liver transplantation: When do we “cure” disease? (journal article) Reinhart, Michaela \| Ganetzky, Rebecca Molecular Genetics and Metabolism, volume 141, issue 4, pages 108249- (2024). 10.1016/j.ymgme.2024.108249 Cited by (1) \| Cite \| Source
Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling (journal article) Fortin, Olivier \| Christoffel, Kelsey \| Schroeder, Jason \| Cilli, Kate \| Shoaib, Abdullah \| Venkatesan, Charu \| Alves, Cesar \| Ganetzky, Rebecca \| Fraser, Jamie Molecular Genetics and Metabolism, volume 141, issue 4, pages 108219- (2024). 10.1016/j.ymgme.2024.108219 Cite \| Source
P870: Racial disparity in the diagnosis of mitochondrial disease (journal article) McGinn, Daniel \| Muraresku, Colleen \| Valverde, Kathleen \| Falk, Marni \| Ganetzky, Rebecca Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101784 Cite \| Source
Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics (journal article) Kemperman, Robin H.J. \| Ganetzky, Rebecca D. \| Master, Stephen R. Journal of Mass Spectrometry and Advances in the Clinical Lab, volume 31 (2024). 10.1016/j.jmsacl.2024.01.004 Cited by (1) \| Cite \| Source
Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia (journal article) Guzman, Herodes \| Yazdani, Sahr \| Harmon, Jennifer L. \| Chapman, Kimberly A. \| Vitola, Bernadette \| Pyle, Louise \| McKnight, Heather \| Sigal, Winnie \| Lord, Katherine \| De Leon, Diva D. \| ... \| Ganetzky, Rebecca Frontiers in Endocrinology, volume 14 (2023). 10.3389/fendo.2023.1268135 Cite \| Source
B-169 Beta-hydroxybutyrate/acetoacetate Ratio as Indicator for Mitochondrial Diseases Utilizing a Novel LC-MS/MS Based Ketone Body Panel (journal article) Kemperman, R H \| Ganetzky, R D \| Master, S R Clinical Chemistry, volume 69, issue Supplement_1 (2023). 10.1093/clinchem/hvad097.501 Cite \| Source
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers (journal article) Wongkittichote, Parith \| Pantano, Cassandra \| Bogush, Emily \| Alves, Cesar Augusto P. \| Hong, Xinying \| He, Miao \| Demczko, Matthew M. \| Ganetzky, Rebecca D. \| Goldstein, Amy Molecular Genetics and Metabolism, volume 140, issue 1-2, pages 107710- (2023). 10.1016/j.ymgme.2023.107710 Cited by (2) \| Cite \| Source
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency (journal article) Wongkittichote, Parith \| Cuddapah, Sanmati R. \| Master, Stephen R. \| Grange, Dorothy K. \| Dietzen, Dennis \| Roper, Stephen M. \| Ganetzky, Rebecca D. JIMD Reports, volume 64, issue 5, pages 367-374 (2023). 10.1002/jmd2.12382 Cited by (5) \| Cite \| Source
Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder (journal article) Gill, Emily L \| Wang, Jing \| Viaene, Angela N \| Master, Stephen R \| Ganetzky, Rebecca D Clinical Chemistry, volume 69, issue 6, pages 564-582 (2023). 10.1093/clinchem/hvad037 Cited by (1) \| Cite \| Source
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations (journal article) Alves, C.A.P.F. \| Zandifar, A. \| Peterson, J.T. \| Tara, S.Z. \| Ganetzky, R. \| Viaene, A.N. \| Andronikou, S. \| Falk, M.J. \| Vossough, A. \| Goldstein, A.C. American Journal of Neuroradiology, volume 44, issue 5, pages 602-610 (2023). 10.3174/ajnr.A7837 Cited by (2) \| Cite \| Source
ARE SOCIAL VARIABLES PREDICTORS OF MORBIDITY AND MORTALITY IN INBORN ERRORS OF METABOLISM? (journal article) Priestley, Jessica \| Ganetzky, Rebecca Molecular Genetics and Metabolism, volume 138, issue 3, pages 107380- (2023). 10.1016/j.ymgme.2023.107380 Cite \| Source
BIOCHEMICAL CHARACTERIZATION OF THE PATIENTS WITH DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (journal article) Wongkittichote, Parith \| Grange, Dorothy K. \| Roper, Stephen \| Master, Stephen \| Ganetzky, Rebecca Molecular Genetics and Metabolism, volume 138, issue 3, pages 107503- (2023). 10.1016/j.ymgme.2023.107503 Cite \| Source
CENTRAL RESPIRATORY FAILURE IN TRMU DEFICIENCY: A COMPLICATING FACTOR (journal article) Reinhart, Michaela \| Ganetzky, Rebecca Molecular Genetics and Metabolism, volume 138, issue 3, pages 107473- (2023). 10.1016/j.ymgme.2023.107473 Cite \| Source
EXPANDING THE PHENOTYPE OF : DIAGNOSIS OF MULTIPLE FAMILY MEMBERS AFTER AN ABNORMAL NEWBORN SCREEN (journal article) Burton, Jennifer \| Richardson, Kate \| Horne, Christine \| Hillman, Paul \| Koenig, Mary Kay \| Arnold, Patricia \| Ganetzky, Rebecca \| Baker, Joshua Molecular Genetics and Metabolism, volume 138, issue 3, pages 107394- (2023). 10.1016/j.ymgme.2023.107394 Cite \| Source
IMPROVING THE DIAGNOSTIC EVALUATION OF CHILDREN WITH INTELLECTUAL DISABILITY AND GLOBAL DEVELOPMENTAL DELAY IN PRIMARY CARE SETTING (journal article) Alharbi, Hana \| Davis, Torrin \| Desrochers, Colette \| Zsolway, Kathleen \| Cuddapah, Vishnu \| Huang, Patty \| Menello, Caitlin \| Huang, Elena \| Ganetzky, Rebecca Molecular Genetics and Metabolism, volume 138, issue 3, pages 107383- (2023). 10.1016/j.ymgme.2023.107383 Cite \| Source
P401: Patients from historically marginalized backgrounds are referred to clinical genetics at lower rates in a large academic health system (journal article) Priestley, Jessica \| Campbell, Ian \| Opio, Paula Roig \| Ganetzky, Rebecca \| Reynoso Santos, Francis Jeshira \| Dalembert, George Genetics in Medicine Open, volume 1, issue 1, pages 100437- (2023). 10.1016/j.gimo.2023.100437 Cite \| Source