Joshua Leith Bonkowsky (Joshua L Bonkowsky, Joshua Bonkowsky, Josh L Bonkowsky)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 37

Top Venues

Neurology. Genetics

Journal of child neurology

Clinical case reports

Neurology. Clinical practice

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

Publications

Hung-Yu Shih, Quentin Raas, Joshua Leith Bonkowsky
Progress in leukodystrophies with zebrafish. Development, growth & differentiation (2024)
Hung-Yu Shih, Quentin Raas, Joshua Leith Bonkowsky
Progress in leukodystrophies with zebrafish. Development, growth & differentiation 66 (1) (2024)
Amanda G Sandoval Karamian, Monika Baker, Rachel Palmquist, Jacob Wilkes, Caleb Porter, Jaxon Olsen, LeeAnn Dempsey, Timothy J Tidwell, Matthew Sweney, Joshua Leith Bonkowsky
Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom. Journal of child neurology (2024)
Hung-Yu Shih, Quentin Raas, Joshua Leith Bonkowsky
Progress in leukodystrophies with zebrafish. Development, growth & differentiation 66 (1) (2024)
Holly J Thorpe, Brent S Pedersen, Miranda Dietze, Nichole L Link, Aaron R Quinlan, Joshua Leith Bonkowsky, Ashley Thomas, Clement Y Chow
Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila . bioRxiv : the preprint server for biology (2024)
Dana R Tower, Ronald W Day, Tighe Marrone, Rachel Palmquist, Lincoln D Nadauld, Joshua Leith Bonkowsky, Sabrina Malone Jenkins
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure. Cold Spring Harbor molecular case studies (2023)
Ezzat Hashemi, Isha Narain Srivastava, Alejandro Aguirre, Ezra Tilahan Yoseph, Esha Kaushal, Avni Awani, Jae Kyu Ryu, Katerina Akassoglou, Shahrzad Talebian, Pauline Chu, Laura Pisani, Patricia L Musolino, Lawrence Steinman, Kristian P Doyle, William H Robinson, Orr Sharpe, Romain Cayrol, Paul J Orchard, Troy C Lund, Hannes Vogel, Max Lenail, May Htwe Han, Joshua Leith Bonkowsky, Keith P Van Haren
A novel mouse model of cerebral adrenoleukodystrophy highlights NLRP3 activity in lesion pathogenesis. bioRxiv : the preprint server for biology (2023)
Trevor Slater, Jacob Zimmerli, Gary R Nelson, Joshua Leith Bonkowsky
Rapid Access Scheduler: A Web-Based System for Direct Provider Scheduling to Pediatric Neurology. Neurology. Clinical practice 14 (1) (2023)
Shelby Geilmann, Rachel Solstad, Rachel Palmquist, Josue A Flores-Daboub, Lorenzo D Botto, Peter H Grubb, Joshua Leith Bonkowsky, Nicola Longo, Sabrina Malone Jenkins
A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies. Clinical case reports 11 (1) (2023)
Trevor Slater, Jacob Zimmerli, Gary R Nelson, Joshua Leith Bonkowsky
Rapid Access Scheduler: A Web-Based System for Direct Provider Scheduling to Pediatric Neurology. Neurology. Clinical practice 14 (1) (2023)
Kristen N Wong, Lorenzo D Botto, Miao He, Peter R Baker, Adeline L Vanderver, Joshua Leith Bonkowsky
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review. Neurology. Genetics 9 (6) (2023)
Kristen N Wong, Lorenzo D Botto, Miao He, Peter R Baker, Adeline L Vanderver, Joshua Leith Bonkowsky
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review. Neurology. Genetics 9 (6) (2023)
Kristen N Wong, Lorenzo D Botto, Miao He, Peter R Baker, Adeline L Vanderver, Joshua Leith Bonkowsky
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review. Neurology. Genetics 9 (6) (2023)
Shanna M Swartwood, Ana Morales, Kathryn E Hatchell, Chad Moretz, Dianalee McKnight, Laurie Demmer, Sarah Chagnon, Swaroop Aradhya, Edward D Esplin, Joshua Leith Bonkowsky
Early Genetic Testing in Pediatric Epilepsy: Diagnostic and Cost Implications. Epilepsia open (2023)
Shelby Geilmann, Rachel Solstad, Rachel Palmquist, Josue A Flores-Daboub, Lorenzo D Botto, Peter H Grubb, Joshua Leith Bonkowsky, Nicola Longo, Sabrina Malone Jenkins
A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies. Clinical case reports 11 (1) (2023)
Trevor Slater, Jacob Zimmerli, Gary R Nelson, Joshua Leith Bonkowsky
Rapid Access Scheduler: A Web-Based System for Direct Provider Scheduling to Pediatric Neurology. Neurology. Clinical practice 14 (1) (2023)
Joshua Leith Bonkowsky, Tomi Pastinen, Peter White
The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century. Pediatric research (2022)
Joshua Leith Bonkowsky, Jacob Wilkes
Time to Transplant in X-Linked Adrenoleukodystrophy. Journal of child neurology 37 (5) (2022)
Guy Helman, Parand Zarekiani, Samantha A M Tromp, Ashley Andrews, Lorenzo D Botto, Joshua Leith Bonkowsky, Anna Chassevent, Elisa Giorgio, Tommaso Pippucci, Shen Wei, Constance Smith-Hicks, Giovanna Vaula, Michel A A P Willemsen, Mareike Schimmel, Kurt Vollert, Fumitaka Shimizu, Takashi Kanda, Matthew Lynch, Tony Roscioli, Ryan J Taft, Cas Simons, Marianna Bugiani, Taco W Kuijpers, Marjo S van der Knaap
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy. Annals of neurology 92 (5) (2022)
Hailey Mclean, Rachel Palmquist, Lincoln D Nadauld, Sabrina Malone Jenkins, Joshua Leith Bonkowsky, Francis Filloux
On the edge-A diagnostic odyssey. Clinical case reports 10 (4) (2022)
Nephi A Walton, Brent Hafen, Sara Graceffo, Nykole Sutherland, Melanie Emmerson, Rachel Palmquist, Christine M Formea, Maricel Purcell, Bret Heale, Matthew A Brown, Christopher J Danford, Sumathi I Rachamadugu, Thomas N Person, Katherine A Shortt, G Bryce Christensen, Jared M Evans, Sharanya Raghunath, Christopher P Johnson, Stacey Knight, Viet T Le, Jeffrey L Anderson, Margaret Van Meter, Teresa Reading, Derrick S Haslem, Ivy C Hansen, Betsey Batcher, Tyler Barker, Travis J Sheffield, Bhaskara Yandava, David P Taylor, Pallavi Ranade-Kharkar, Christopher C Giauque, Kenneth R Eyring, Jesse W Breinholt, Mickey R Miller, Payton R Carter, Jason L Gillman, Andrew W Gunn, Kirk U Knowlton, Joshua Leith Bonkowsky, Kari Stefansson, Lincoln D Nadauld, Howard L McLeod
The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health. Journal of personalized medicine 12 (11) (2022)
Nephi A Walton, Brent Hafen, Sara Graceffo, Nykole Sutherland, Melanie Emmerson, Rachel Palmquist, Christine M Formea, Maricel Purcell, Bret Heale, Matthew A Brown, Christopher J Danford, Sumathi I Rachamadugu, Thomas N Person, Katherine A Shortt, G Bryce Christensen, Jared M Evans, Sharanya Raghunath, Christopher P Johnson, Stacey Knight, Viet T Le, Jeffrey L Anderson, Margaret Van Meter, Teresa Reading, Derrick S Haslem, Ivy C Hansen, Betsey Batcher, Tyler Barker, Travis J Sheffield, Bhaskara Yandava, David P Taylor, Pallavi Ranade-Kharkar, Christopher C Giauque, Kenneth R Eyring, Jesse W Breinholt, Mickey R Miller, Payton R Carter, Jason L Gillman, Andrew W Gunn, Kirk U Knowlton, Joshua Leith Bonkowsky, Kari Stefansson, Lincoln D Nadauld, Howard L McLeod
The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health. Journal of personalized medicine 12 (11) (2022)
Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak-Toydemir, Christine E Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J Hernandez, Michael J Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua Leith Bonkowsky, Martin Tristani-Firouzi, Mark Yandell, Gabor Marth, Aaron R Quinlan, Luca Brunelli, Reha M Toydemir, Brian J Shayota, John C Carey, Steven E Boyden, Sabrina Malone Jenkins
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. Molecular genetics & genomic medicine 10 (4) (2022)
Hayley M Reynolds, Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E Boyden, Pinar Bayrak-Toydemir, Thomas J Nicholas, Shawn Rynearson, Carson Holt, Christine Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua Leith Bonkowsky, Brian J Shayota, Sabrina Malone Jenkins
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome. Cold Spring Harbor molecular case studies (2022)
Marjo S van der Knaap, Joshua Leith Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Silvio Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter M van de Ven, Prisca S Leferink
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion. Neurology. Genetics 8 (2) (2022)
Joshua Leith Bonkowsky
New insights into genetic white matter disorders. Developmental medicine and child neurology 63 (9) (2021)
Gabrielle Ghabash, Jacob Wilkes, Bradley J Barney, Joshua Leith Bonkowsky
Hospitalization Burden and Incidence of Krabbe Disease. Journal of child neurology (2021)
Esther Nuebel, Jeffrey T Morgan, Sarah Fogarty, Jacob M Winter, Sandra Lettlova, Jordan A Berg, Yu-Chan Chen, Chelsea U Kidwell, J Alan Maschek, Katie J Clowers, Catherine Argyriou, Lingxiao Chen, Ilka Wittig, James Eric Cox, Minna Roh-Johnson, Nancy E Braverman, Joshua Leith Bonkowsky, Steven P Gygi, Jared Rutter
The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder. EMBO reports 22 (10) (2021)
Kristi L Russell, Jonathan M Downie, Summer B Gibson, Spyridoula Tsetsou, Matthew D Keefe, Jerry A Duran, Karla P Figueroa, Mark B Bromberg, L Charles Murtaugh, Joshua Leith Bonkowsky, Stefan M Pulst, Lynn B Jorde
Pathogenic effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis. Neurology (2021)
Veronica M Urbik, Marilyn Schmiedel, Haille Soderholm, Joshua Leith Bonkowsky
Author's Response to "Classifying Hypomyelination: A Critical (white) Matter" From Perrier et al.: regarding Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies. Child neurology open 7 (2020)
Jong-Hyun Son, Tamara J Stevenson, Miranda D Bowles, Erika A Scholl, Joshua Leith Bonkowsky
Dopaminergic Co-Regulation of Locomotor Development and Motor Neuron Synaptogenesis is Uncoupled by Hypoxia in Zebrafish. eNeuro 7 (1) (2020)
Veronica M Urbik, Marilyn Schmiedel, Haille Soderholm, Joshua Leith Bonkowsky
Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies. Child neurology open 7 (2020)
Matthew D Keefe, Haille E Soderholm, Hung-Yu Shih, Tamara J Stevenson, Kathryn A Glaittli, D Miranda Bowles, Erika Scholl, Samuel Colby, Samer Merchant, Edward W Hsu, Joshua Leith Bonkowsky
Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response. eLife 9 (2020)
Celestine H Yeung Gregerson, Amanda V Bakian, Jacob Wilkes, Andrew J Knighton, Flory Nkoy, Matthew Sweney, Francis M Filloux, Joshua Leith Bonkowsky
Disparities in Pediatric Epilepsy Remission Are Associated With Race and Ethnicity. Journal of child neurology 34 (14) (2019)
Jingxia Gao, Tamara J Stevenson, Adam D Douglass, Joshua P Barrios, Joshua Leith Bonkowsky
The Midline Axon Crossing Decision Is Regulated through an Activity-Dependent Mechanism by the NMDA Receptor. eNeuro 5 (2) (2018)
Christopher J Lambert, Briana C Freshner, Arlen Chung, Tamara J Stevenson, D Miranda Bowles, Raheel Samuel, Bruce K Gale, Joshua Leith Bonkowsky
An automated system for rapid cellular extraction from live zebrafish embryos and larvae: Development and application to genotyping. PloS one 13 (3) (2018)
Joshua Leith Bonkowsky, Jong-Hyun Son
Hypoxia and connectivity in the developing vertebrate nervous system. Disease models & mechanisms 11 (12) (2018)

Joshua Leith Bonkowsky.css-eqlu8i{font-size:small;padding-left:4px;} (Joshua L Bonkowsky, Joshua Bonkowsky, Josh L Bonkowsky)

Publication Activity (10 Years)

Top Topics

Top Venues

Joshua Leith Bonkowsky (Joshua L Bonkowsky, Joshua Bonkowsky, Josh L Bonkowsky)