Rebecca D Ganetzky (Rebecca Ganetzky, R Ganetzky)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 16

Top Topics

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Clinical liver disease

Clinical chemistry

This page only lists publications with an associated author ORCID identifier.

Publications

Olivier Fortin, Kelsey Christoffel, Abdullah B Shoaib, Charu Venkatesan, Kate Cilli, Jason W Schroeder, César Augusto Pinheiro Ferreira Alves, Rebecca D Ganetzky, Jamie L Fraser
Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency. Neurology 103 (4) (2024)
Olivier Fortin, Kelsey Christoffel, Abdullah B Shoaib, Charu Venkatesan, Kate Cilli, Jason W Schroeder, César Augusto Pinheiro Ferreira Alves, Rebecca D Ganetzky, Jamie L Fraser
Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency. Neurology 103 (4) (2024)
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Tzung-Chien Hsieh, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel, Sophie Möller, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Ingrid Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill Anne Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, C M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam 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 Swanson, Carrie Costin, Rebekah K Jobling, John G 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 Muraresku, Davit Babikyan, Zdenek Sedlacek, Miroslava Hancarova, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Genevieve, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Hussain Sabir, Derek Lim, Mark Hamilton, Lisa Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna Maria Cueto-González, Eduardo Fidel Tizzano, David Gomez Andres, Marta Codina Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati, Julien Marcoux, Marie-Pierre Bousquet, Jeremie Poschmann, Frederic Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Arnaud Droit, Ype Elgersma, Andreas Martin Grabrucker, Francois V Bolduc, Stephane Bezieau, Frédéric Ebstein, Elke Krüger
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv : the preprint server for health sciences (2024)
Parith Wongkittichote, Sanmati R Cuddapah, Stephen R Master, Dorothy K Grange, Dennis Dietzen, Stephen M Roper, Rebecca D Ganetzky
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency. JIMD reports 64 (5) (2023)
Parith Wongkittichote, Edward B Cook, Francis Jeshira Reynoso Santos, Rebecca C Ahrens-Nicklas, Xinying Hong, Rebecca D Ganetzky
Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy. The journal of applied laboratory medicine (2023)
Parith Wongkittichote, Rebecca D Ganetzky, Matthew M Demczko, Xinying Hong, Miao He, Stephen R Master
Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder. Clinical chemistry 69 (6) (2023)
César Augusto Pinheiro Ferreira Alves, Alireza Zandifar, James T Peterson, S Z Tara, Rebecca D Ganetzky, Angela N Viaene, Savvas Andronikou, Marni J Falk, Arastoo Vossough, A C Goldstein
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations. AJNR. American journal of neuroradiology (2023)
Emily L Gill, Jing Wang, Angela N Viaene, Stephen R Master, Rebecca D Ganetzky
Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder. Clinical chemistry (2023)
Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli-Dipple, Cécile Voisset, Melissa A Walker, Lauren C Briere, Amélie Bourhis, Marc Blondel, Charles A LeDuc, Jacob Hagen, Cathleen Cooper, Colleen Muraresku, Claude Ferec, Armelle Garenne, Servane Lelez-Soquet, Cassandra A Rogers, Yufeng Shen, Dana K Strode, Peyman Bizargity, Alejandro Iglesias, Amy Goldstein, Frances A High, Undiagnosed Diseases Network, David A Sweetser, Rebecca D Ganetzky, Johan L K Van Hove, Vincent Procaccio, Cedric Le Marechal, Wendy K Chung
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Journal of inherited metabolic disease 45 (5) (2022)
Hayley A Ron, Rebecca Scobell, Amy Strong, Elizabeth G Salazar, Rebecca D Ganetzky
Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature. American journal of medical genetics. Part A 188 (11) (2022)
Alanna Strong, Rebecca D Ganetzky, Daniel J Rader
Hepatic Manifestations of Mendelian Disorders of Cholesterol Biosynthesis and Cellular Metabolism. Clinical liver disease 18 (6) (2021)
Hind Alsharhan, Colleen Muraresku, Rebecca D Ganetzky
COXPD9 in an individual from Puerto Rico and literature review. American journal of medical genetics. Part A 185 (8) (2021)
Hana Alharbi, Jessica R C Priestley, Benjamin J Wilkins, Rebecca D Ganetzky
Mitochondrial Hepatopathies. Clinical liver disease 18 (5) (2021)
Sarah E Sheppard, Brett Barrett, Colleen Muraresku, Heather McKnight, Diva D De León, Katherine Lord, Rebecca D Ganetzky
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas. American journal of medical genetics. Part A 185 (2) (2020)
Emanuele G Coci, Vytautas Gapsys, Natasha Shur, Yoon Shin-Podskarbi, Bert L de Groot, Kathryn Miller, Jerry Vockley, Neal Sondheimer, Rebecca D Ganetzky, Peter Freisinger
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation. Human mutation 40 (6) (2019)
Rebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Amy C Goldstein, Thomas Klopstock, Marni J Falk
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Human mutation 40 (5) (2019)