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Rebecca Ganetzky

children's hospital of philadelphia

24H-index
181Paper Count
3.7KCitation Count
Published Papers 69
Publication Date
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NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment
errJournal of Inherited Metabolic Disease
IF3.8
err2026-08-20
err0
errOAAI
errNajmesadat Seyedkatouli; Liana N. Semcesen; Lucia Gallucci; Tim Sikora; Jean-François Conrotte; Mei R. M. Du; Marat Kasakin; Gezime Seferi; Licia Corona; Martin Jakubec; Brunda Nijagal; Sajel Lala; Rebecca D. Ganetzky; Ana Maria Rodriguez Barreto; Marina Szlago; Melanie Wong; Margit Shah; James Nurse; Nicola Foulds; Shankar Sadagopan; Ha Nguyen Thu; Dung Vu Chi; Khanh Nguyen Ngoc; Michelle G. de Silva; Mirana Ramialison; Fernando Rossello; MitoMDT Diagnostic Network for Genomics and Omics; David R. Thorburn; Matthew Lynch; Pauline McGrath; David A. Stroud; John Christodoulou; Carole L. Linster; Nicole J. Van Bergen
errShare
errSave
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
errScience Advances
IF12.5
err2026-04-15
err0
errOAAI
errRobert Wang; Feng Wang; Nicole DeBruyne; Xinjun Ji; Nicole M. Engelhardt; Joseph Jee-Hwan Park; Amber Notaro; Samantha Gaerlan; Ryan Park; Matthew J. Schultz; Sheila Clever; Elizabeth M. McCormick; Kelsey Keith; Bobby G. Ng; Kathryn E. Kadash-Edmondson; Hudson H. Freeze; Christina T. Lam; Eva Morava; Ingo Helbig; Marni J. Falk; Rebecca D. Ganetzky; Andrew C. Edmondson; Lan Lin; Yi Xing
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errSave
Retrospective Case Series of Fulminant Metabolic Crisis in GSDIA: Persistent Lactic Acidosis Despite Correction of Hypoglycemia May Reflect Secondary Mitochondrial Dysfunction
errJIMD Reports
IF1.8
err2025-12-25
err0
errOAAI
errGuzman, Herodes; Stewart, Nicole; Mitteer, Lauren; Sanders, Victoria; Ganetzky, Rebecca; De Leon, Diva D.
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errSave
Clinical and biochemical footprints of primary mitochondrial disorders: Proposed Nosology
errMolecular Genetics and Metabolism
IF3.5
err2025-12-11
err0
errOAAI
errMartina Messina; Rebecca Ganetzky; Carlos R. Ferreira; Nenad Blau; Shamima Rahman
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errSave
Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape
errPediatric Neurology
IF2.1
err2025-11-27
err0
PREAI
errIbrahim Elsharkawi; Amy Goldstein; Rebecca D. Ganetzky; Eva Morava
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errSave
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
errNature Communications
IF15.7
err2025-11-26
err0
errOAAI
errSébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
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Evaluating Clinical Biochemical Diagnostic Approaches for Mitochondrial Diseases
errCLINICAL CHEMISTRY
IF6.3
err2025-10-01
err0
errOAAI
errKemperman, Robin; Peterson, Jamie; Master, Stephen; Ganetzky, Rebecca
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errSave
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
erramerican journal of human genetics
IF0
err2025-06-10
err0
PREAI
errHana Antonicka; Woranontee Weraarpachai; Katherine M. Szigety; Robert Kopajtich; James B. Gibson; Johan L.K. Van Hove; Marisa W. Friederich; Piervito Lopriore; Christiane Neuhofer; Roxanne A. Van Hove; Michel A. Cole; Richard Reisdorph; James T. Peterson; Katherine J. Dempsey; Rebecca D. Ganetzky; Michelangelo Mancuso; Holger Prokisch; Eric A. Shoubridge
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errSave
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients
errAMERICAN JOURNAL OF NEURORADIOLOGY
IF3.7
err2025-04-10
err0
PREAI
errAlves, CAPF; Rossi-Espagnet, MC; Perez, F; Manteghinejad, A; Peterson, JT; Ganetzky, R; Napolitano, A; Grassi, F; George-Sankoh, I; Yildiz, H; Muraresku, C; Falk, MJ; Martinelli, D; Longo, D; Vanderver, A; Gandolfo, C; Saneto, RP; Goldstein, A; Vossough, A
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errSave
Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-04-01
err0
PREAI
errDemczko, Matthew M.; Ganetzky, Rebecca D.; Tormey, Cassandra; Ku, Brandon C.; Blowey, Bridget; Lavelle, Jane; Goldstein, Amy
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errSave
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errCheung, Anthony C. T.; Di Pietro, Erminia; Argyriou, Catherine; Bareke, Eric; D'Souza, Yasmin; Puri, Ratna Dua; Shabeer, P. Muhammed; Ganetzky, Rebecca; Goldstein, Amy; Vanderver, Adeline; Mohan, Shruthi; Majewski, Jacek; Yergeau, Christine; Braverman, Nancy
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errSave
A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2025-01-01
err0
errOAAI
errChristian, Thomas; Maharjan, Sunita; Yin, Sitao; Yamaki, Yuka; Masuda, Isao; Li, Fenglin; Muraresku, Colleen; Clever, Sheila; Ganetzky, Rebecca D.; Hou, Ya-Ming
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errSave
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum
errPEDIATRIC NEUROLOGY
IF2.1
err2025-01-01
err0
PREAI
errSen, Kuntal; Vera, Alonso Zea; Puronurmi, Anna; Gropman, Andrea; Wongkittichote, Parith; Ganetzky, Rebecca; Autio, Kaija; Kastaniotis, Alexander
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errSave
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err0
errOAAI
errZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.
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Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency
errNEUROLOGY
IF8.5
err2024-08-27
err0
PREAI
errFortin, Olivier; Christoffel, Kelsey; Shoaib, Abdullah B.; Venkatesan, Charu; Cilli, Kate; Schroeder, Jason W.; Alves, Cesar; Ganetzky, Rebecca D.; Fraser, Jamie L.
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errSave
The future of mitochondrial medicine requires both lumping and splitting
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-08-01
err0
PREAI
errGanetzky, Rebecca D.
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errSave
Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics (vol 31, pg 49, 2024)
errJOURNAL OF MASS SPECTROMETRY AND ADVANCES IN THE CLINICAL LAB
IF3.4
err2024-08-01
err0
errOAAI
errKemperman, Robin H. J.; Ganetzky, Rebecca D.; Master, Stephen R.
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errSave
Development of a semi-quantitative mitochondrial translation assay
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errKong, Christine; Cahill, Alan; Ganetzky, Rebecca
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errSave
Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errFortin, Olivier; Christoffel, Kelsey; Schroeder, Jason; Cilli, Kate; Shoaib, Abdullah; Venkatesan, Charu; Alves, Cesar; Ganetzky, Rebecca; Fraser, Jamie
errShare
errSave
Use of dichloroacetate as novel therapy in ECHS1 deficiency
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errJacob, Neil; Ganesh, Jaya; LoPiccolo, Mary Kate; Ganetzky, Rebecca; Waite, Jessica; Elsharkawi, Ibrahim
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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
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Kāri Stefánsson
H-index: 219 · Papers: 1.2K
E
Evan E. Eichler
H-index: 191 · Papers: 864
H
Håkon Håkonarson
H-index: 177 · Papers: 1.5K
J
Jay Shendure
H-index: 167 · Papers: 662
D
Douglas C. Wallace
H-index: 134 · Papers: 605
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