Russell J Butterfield (Russell Butterfield)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 29

Top Topics

Angiotensin Converting Enzyme

Autism Spectrum Disorder

Muscular Dystrophy

Top Venues

medRxiv : the preprint server for health sciences

International journal of neonatal screening

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

Publications

Namita Patel, Kiera N Berggren, Man Hung, Kameron Bates, Melissa M Dixon, Karen Bax, Heather R Adams, Russell J Butterfield, Craig Campbell, Nicholas E Johnson
Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy. Neurology 102 (5) (2024)
Kristen N Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser, Russell J Butterfield
A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned. International journal of neonatal screening 10 (3) (2024)
Mei Lietsch, Kee Chan, Jennifer L Taylor, Bo Hoon Lee, Emma Ciafaloni, Jennifer M Kwon, Megan A Waldrop, Russell J Butterfield, Geetanjali Rathore, Aravindhan Veerapandiyan, Arya Kapil, Julie A Parsons, Melissa Gibbons, Amy M Brower
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening. International journal of neonatal screening 10 (2) (2024)
Namita Patel, Kiera N Berggren, Man Hung, Kameron Bates, Melissa M Dixon, Karen Bax, Heather R Adams, Russell J Butterfield, Craig Campbell, Nicholas E Johnson
Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy. Neurology 102 (5) (2024)
Mei Lietsch, Kee Chan, Jennifer L Taylor, Bo Hoon Lee, Emma Ciafaloni, Jennifer M Kwon, Megan A Waldrop, Russell J Butterfield, Geetanjali Rathore, Aravindhan Veerapandiyan, Arya Kapil, Julie A Parsons, Melissa Gibbons, Amy M Brower
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening. International journal of neonatal screening 10 (2) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Mei Lietsch, Kee Chan, Jennifer L Taylor, Bo Hoon Lee, Emma Ciafaloni, Jennifer M Kwon, Megan A Waldrop, Russell J Butterfield, Geetanjali Rathore, Aravindhan Veerapandiyan, Arya Kapil, Julie A Parsons, Melissa Gibbons, Amy M Brower
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening. International journal of neonatal screening 10 (2) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Namita Patel, Kiera N Berggren, Man Hung, Kameron Bates, Melissa M Dixon, Karen Bax, Heather R Adams, Russell J Butterfield, Craig Campbell, Nicholas E Johnson
Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy. Neurology 102 (5) (2024)
Namita Patel, Kiera N Berggren, Man Hung, Kameron Bates, Melissa M Dixon, Karen Bax, Heather R Adams, Russell J Butterfield, Craig Campbell, Nicholas E Johnson
Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy. Neurology 102 (5) (2024)
Kristen N Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser, Russell J Butterfield
A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned. International journal of neonatal screening 10 (3) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Russell J Butterfield, Diane M Dunn, Brett Duval, Sarah Moldt, Robert B Weiss
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. Genome research (2023)
Russell J Butterfield, Diane M Dunn, Brett Duval, Sarah Moldt, Robert B Weiss
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. bioRxiv : the preprint server for biology (2023)
Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Silvio Bertini, Paul Wuh-Liang Hwu, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Aledie Navas Nazario, Julie A Parsons, Astrid Pechmann, Monique M Ryan, Russell J Butterfield, Haluk A Topaloglu, Tawfeg Ben-Omran, Valeria Ada Sansone, Yuh-Jyh Jong, Francy Shu, Cong Zhu, Stephanie Raynaud, Tiffany R Lago, Angela D Paradis, Richard Foster, Russell Chin, Zdenek Berger, null null
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle & nerve (2023)
Russell J Butterfield, Diane M Dunn, Brett Duval, Sarah Moldt, Robert B Weiss
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. bioRxiv : the preprint server for biology (2023)
Megan A Waldrop, Steven A Moore, Katherine D Mathews, Benjamin W Darbro, Livja Medne, Richard Finkel, Anne M Connolly, Thomas O Crawford, Daniel Drachman, Nicolas Wein, Ali A Habib, Monika A Krzesniak-Swinarska, Craig M Zaidman, James J Collins, Manu Jokela, Bjarne Udd, John W Day, Gloria Ortiz-Guerrero, Jeff Statland, Russell J Butterfield, Diane M Dunn, Robert B Weiss, Kevin M Flanigan
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy. Human mutation 43 (4) (2022)
Russell J Butterfield, Sergey Kirkov, Kristin M Conway, Nicholas E Johnson, Dennis Matthews, Han Phan, Bo Cai, Pangaja Paramsothy, Shiny Thomas, Marcia L Feldkamp
Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet. Muscle & nerve 66 (1) (2022)
Florian Patrick Thomas, Thomas H Brannagan, Russell J Butterfield, Urvi Desai, Ali A Habib, David N Herrmann, Katy J Eichinger, Nicholas E Johnson-Cl, Chafic Karam, Alan Pestronk, Colin C Quinn, Michael E Shy, Jeffrey M Statland, Sub H Subramony, David Walk, Katherine Stevens-Favorite, Barry Miller, Ashley Leneus, Marcie Fowler, Marc van de Rijn, Kenneth M Attie
Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease. Neurology (2022)
Jeffrey M Statland, Craig Campbell, Urvi Desai, Chafic Karam, Jordi Díaz-Manera, Jeffrey T Guptill, Lawrence Korngut, Angela Genge, Rabi N Tawil, Lauren Elman, Nanette C Joyce, Kathryn R Wagner, Georgios E Manousakis, Anthony A Amato, Russell J Butterfield, Perry B Shieh, Matthew Wicklund, Josep Gamez, Cynthia Bodkin, Alan Pestronk, Conrad C Weihl, Juan J Vilchez-Padilla, Nicholas E Johnson, Katherine D Mathews, Barry Miller, Ashley Leneus, Marcie Fowler, Marc van de Rijn, Kenneth M Attie
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. Muscle & nerve 66 (1) (2022)
Russell J Butterfield, Carina Imburgia, Katie Mayne, Tara Newcomb, Diane M Dunn, Brett Duval, Marcia L Feldkamp, Nicholas E Johnson, Robert B Weiss
High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis. Molecular genetics & genomic medicine 9 (4) (2021)
Nicholas E Johnson, Russell J Butterfield, Katie Mayne, Tara Newcomb, Carina Imburgia, Diane Dunn, Brett Duval, Marcia L Feldkamp, Robert B Weiss
Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program. Neurology 96 (7) (2021)
Kristin M Conway, Amber Gedlinske, Katherine D Mathews, Seth Perlman, Nicholas E Johnson, Russell J Butterfield, Man Hung, Jerry Bounsanga, Dennis Matthews, Joyce Oleszek, Paul A Romitti
A population-based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Muscle & nerve (2021)
Katherine D Mathews, Kristin M Conway, Amber M Gedlinske, Nicholas Johnson, Natalie Street, Russell J Butterfield, Man Hung, Emma Ciafaloni, Paul A Romitti
Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Children (Basel, Switzerland) 8 (10) (2021)
Sarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, Gyula Acsadi, John Brandsema, Emma Ciafaloni, Basil T Darras, Susan T Iannaccone, Chamindra G Konersman, Nancy L Kuntz, Craig M McDonald, Julie A Parsons, Carolina Tesi Rocha, Craig M Zaidman, Russell J Butterfield, Anne M Connolly, Katherine D Mathews
Medical management of muscle weakness in Duchenne muscular dystrophy. PloS one 15 (10) (2020)
Betsy E P Ostrander, Russell J Butterfield, Brent S Pedersen, Andrew J Farrell, Ryan M Layer, Alistair Ward, Chase Miller, Tonya DiSera, Francis M Filloux, Meghan S Candee, Tara Newcomb, Joshua L Bonkowsky, Gabor T Marth, Aaron R Quinlan
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. NPJ genomic medicine 3 (2018)
Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy. PloS one 12 (12) (2017)