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R

Russell P. Saneto

university of washington

44H-index
197Paper Count
7.9KCitation Count
Published Papers 60
Publication Date
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
errNature Genetics
IF29
err2026-03-30
err0
errOAAI
errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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Pancreatic involvement in EPG5-related disorders
errMOLECULAR GENETICS AND METABOLISM REPORTS
IF1.9
err2025-11-01
err0
errOAAI
errFamili, Dennis T.; Elghazali, Gehad; Argili, Emanuela; Saneto, Russell P.; Harris, Michael; Gerasimenko, Oleg; Gerasimenko, Julia; Fanto, Manolis; Dafsari, Hormos Salimi; Jungbluth, Heinz
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Phase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE)
errEpilepsia
IF6.6
err2025-07-19
err0
PREAI
errKoko Hall; Russell Saneto; Stephanie Randle; Mark S. Wainwright; Patricia Berry; Sarah Leary; Ghayda Mirzaa; Jason Lockrow; Hannah Goldstein; Jeffrey Ojemann
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Selective Small-Molecule Activator of Patient-Derived GPX4 Variant
errACS CHEMICAL BIOLOGY
IF3.8
err2025-05-06
err0
PREAI
errLiu, HR; Forouhar, F; Saneto, R; Stockwell, BR
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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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Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease
errANNALS OF NEUROLOGY
IF7.7
err2024-09-04
err1
errOAAI
errHidalgo-Gutierrez, Agustin; Shintaku, Jonathan; Ramon, Javier; Barriocanal-Casado, Eliana; Pesini, Alba; Saneto, Russell P.; Garrabou, Gloria; Milisenda, Jose Cesar; Matas-Garcia, Ana; Gort, Laura; Ugarteburu, Olatz; Gu, Yue; Koganti, Lahari; Wang, Tian; Tadesse, Saba; Meneri, Megi; Sciacco, Monica; Wang, Shuang; Tanji, Kurenai; Horwitz, Marshall S.; Dorschner, Michael O.; Mansukhani, Mahesh; Comi, Giacomo Pietro; Ronchi, Dario; Marti, Ramon; Ribes, Antonia; Tort, Frederic; Hirano, Michio
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Mitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome
errNATURE METABOLISM
IF20.8
err2024-09-02
err3
PREAI
errNakai, Ritsuko; Varnum, Stella; Field, Rachael L.; Shi, Henyun; Giwa, Rocky; Jia, Wentong; Krysa, Samantha J.; Cohen, Eva F.; Borcherding, Nicholas; Saneto, Russell P.; Tsai, Rick C.; Suganuma, Masashi; Ohta, Hisashi; Yokota, Takafumi; Brestoff, Jonathan R.
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Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
errEPILEPSIA
IF6.6
err2024-07-02
err1
PREAI
errCuccurullo, Claudia; Irelli, Emanuele Cerulli; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjorg; Moller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Dafsari, Hormos Salimi; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta
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Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?
errNEUROTHERAPEUTICS
IF6.9
err2023-10-01
err0
errOAAI
errSaneto, Russell P.; Karaa, Amel
errShare
errSave
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial
errNEUROLOGY
IF8.5
err2023-07-18
err20
errOAAI
errKaraa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Brown, David A.; Shiffer, James A.; Mancuso, Michelango
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Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels(vol 17, 423, 2022)
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-03-13
err0
errOAAI
errShelkowitz, Emily; Saneto, Russell P.; Al-Hertani, Walla; Lubout, Charlotte M. A.; Stence, Nicholas V.; Brown, Mark S.; Long, Patrick; Walleigh, Diana; Nelson, Julie A.; Perez, Francisco E.; Shaw, Dennis W. W.; Michl, Emma J.; Van Hove, Johan L. K.
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023)
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-03-01
err2
errOAAI
errPaul, Maimuna S.; Duncan, Anna R.; Genetti, Casie A.; Pan, Hongling; Jackson, Adam; Grant, Patricia E.; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P.; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Haack, B. Ulrike Blumlein Tobias B.; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V.; Palculict, Timothy Blake; Calame, Daniel G.; Schwan, Katharina; Aycinena, Alicia R. P.; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B.
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-01-01
err12
errOAAI
errPaul, Maimuna S.; Duncan, Anna R.; Genetti, Casie A.; Pan, Hongling; Jackson, Adam; Grant, Patricia E.; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P.; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Bluemlein, Ulrike; Haack, Tobias B.; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni, V; Palculict, Timothy Blake; Calame, Daniel G.; Schwan, Katharina; Aycinena, Alicia R. P.; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B.
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errSave
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2022-12-05
err7
errOAAI
errShelkowitz, Emily; Saneto, Russell P. P.; Al-Hertani, Walla; Lubout, Charlotte M. A.; Stence, Nicholas V. V.; Brown, Mark S. S.; Long, Patrick; Walleigh, Diana; Nelson, Julie A. A.; Perez, Francisco E. E.; Shaw, Dennis W. W.; Michl, Emma J. J.; Van Hove, Johan L. K.
errShare
errSave
Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study
errPEDIATRIC NEUROLOGY
IF2.1
err2022-11-01
err3
errOAAI
errWang, Jia-Der Ju; Chen, Maida; Zhang, Cristian; Parker, Jessica; Saneto, Russell; Ramirez, Jan-Marino
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errSave
Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies
errJOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
IF11.8
err2022-07-01
err9
errOAAI
errDavies, Olivia M. T.; Garzon, Maria C.; Frieden, Ilona J.; Cottrell, Catherine E.; Gripp, Karen W.; Saneto, Russell P.; Shwayder, Tor; Mizaa, Ghayda M.; Drolet, Beth A.
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Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease
errFRONTIERS IN MOLECULAR BIOSCIENCES
IF4
err2022-06-14
err3
errOAAI
errSaneto, Russell P.; Perez, Francisco A.
errShare
errSave
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-06-01
err13
errOAAI
errEmmanuele, Valentina; Ganesh, Jaya; Vladutiu, Georgirene; Haas, Richard; Kerr, Douglas; Saneto, Russell P.; Cohen, Bruce H.; Van Hove, Johan L. K.; Scaglia, Fernando; Hoppel, Charles; Rosales, Xiomara Q.; Barca, Emanuele; Buchsbaumm, Richard; Thompson, John L.; DiMauro, Salvatore; Hirano, Michio
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A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome
errEPILEPSIA
IF6.6
err2022-05-21
err17
errOAAI
errStriano, Pasquale; Auvin, Stephane; Collins, Abigail; Horvath, Rita; Scheffer, Ingrid E.; Tzadok, Michal; Miller, Ian; Koenig, Mary Kay; Lacy, Adrian; Davis, Ronald; Garcia-Cazorla, Angela; Saneto, Russell P.; Brandabur, Melanie; Blair, Susan; Koutsoukos, Tony; De Vivo, Darryl
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Disruption of cellular iron homeostasis by IREB2 missense variants causes severe neurodevelopmental delay, dystonia and seizures
errBRAIN COMMUNICATIONS
IF4.5
err2022-04-19
err10
errOAAI
errMaio, Nunziata; Saneto, Russell P.; Steet, Richard; de Menezes, Marcio A. Sotero; Skinner, Cindy; Rouault, Tracey A.
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Research Directions

No research directions
Co-authors
Cooperation Journals
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H-index: 160 · Papers: 903
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Ingrid E. Scheffer
H-index: 141 · Papers: 1.0K
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Mark A. Tarnopolsky
H-index: 129 · Papers: 889
P
Patrick F. Chinnery
H-index: 128 · Papers: 937
W
William B. Dobyns
H-index: 127 · Papers: 600
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