Peter B Kang

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 38

Top Venues

Muscle & nerve

medRxiv : the preprint server for health sciences

Neurology

Acta neuropathologica

University of Florida College of Medicine

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

Affiliation History

University of Florida College of Medicine Nov 01 2013

United States

Chief, Division of Pediatric Neurology :: Pediatrics

Publications

Johnnie Turner, Christine C Bruels, Audrey L Daugherty, Elicia A Estrella, Seth Stafki, Safoora B Syeda, Hannah R Littel, Lynn Pais, Vijay S Ganesh, Hart G W Lidov, Simon M L Paine, Paul Maddison, Rachel E Harrison, Volker Straub, Partha S Ghosh, Christina A Pacak, Louis M Kunkel, Isabelle Draper, Ana Topf, Peter B Kang
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. Muscle & nerve (2024)
Carla D Zingariello, Yara Mohamed, Magali Jorand-Fletcher, James Wymer, Peter B Kang, Sonja A Rasmussen
Diagnoses of muscular dystrophy in a veterans health system. Muscle & nerve 70 (2) (2024)
Geetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, William G Mantyh, Hannah R Littel, Christine C Bruels, Christina A Pacak, Paul D Robbins, Laura J Niedernhofer, Adesoji Abiona, Paola Giunti, Shehla Mohammed, Vincent Laugel, Peter B Kang
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurology. Clinical practice 14 (4) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Peter B Kang
Skipping, Steroids, and Genes: The First 7 Therapies for Duchenne Muscular Dystrophy. Neurology 102 (5) (2024)
Mekala Gunasekaran, Hannah R Littel, Natalya M Wells, Johnnie Turner, Gloriana Campos, Sree Venigalla, Elicia A Estrella, Partha S Ghosh, Audrey L Daugherty, Seth A Stafki, Louis M Kunkel, A Reghan Foley, Sandra Donkervoort, Carsten G Bönnemann, Laura Toledo-Bravo de Laguna, Andres Nascimento, Daniel Natera-de Benito, Isabelle Draper, Christine C Bruels, Christina A Pacak, Peter B Kang
Effects of HMGCR deficiency on skeletal muscle development. bioRxiv : the preprint server for biology (2024)
Johnnie Turner, Christine C Bruels, Audrey L Daugherty, Elicia A Estrella, Seth Stafki, Safoora B Syeda, Hannah R Littel, Lynn Pais, Vijay S Ganesh, Hart G W Lidov, Simon M L Paine, Paul Maddison, Rachel E Harrison, Volker Straub, Partha S Ghosh, Christina A Pacak, Louis M Kunkel, Isabelle Draper, Ana Topf, Peter B Kang
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. Muscle & nerve (2024)
Peter B Kang
Skipping, Steroids, and Genes: The First 7 Therapies for Duchenne Muscular Dystrophy. Neurology 102 (5) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R Clause, Jacques S Beckmann, Lucas Bronicki, Sandra T Cooper, Vijay S Ganesh, Peter B Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J Spencer, Volker Straub, Giorgio Tasca, Conrad C Weihl
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. Annals of clinical and translational neurology (2024)
Carla D Zingariello, Yara Mohamed, Magali Jorand-Fletcher, James Wymer, Peter B Kang, Sonja A Rasmussen
Diagnoses of muscular dystrophy in a veterans health system. Muscle & nerve (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Geetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, William G Mantyh, Hannah R Littel, Christine C Bruels, Christina A Pacak, Paul D Robbins, Laura J Niedernhofer, Adesoji Abiona, Paola Giunti, Shehla Mohammed, Vincent Laugel, Peter B Kang
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurology. Clinical practice 14 (4) (2024)
Johnnie Turner, Christine C Bruels, Audrey L Daugherty, Elicia A Estrella, Seth Stafki, Safoora B Syeda, Hannah R Littel, Lynn Pais, Vijay S Ganesh, Hart G W Lidov, Simon M L Paine, Paul Maddison, Rachel E Harrison, Volker Straub, Partha S Ghosh, Christina A Pacak, Louis M Kunkel, Isabelle Draper, Ana Topf, Peter B Kang
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. Muscle & nerve (2024)
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R Clause, Jacques S Beckmann, Lucas Bronicki, Sandra T Cooper, Vijay S Ganesh, Peter B Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J Spencer, Volker Straub, Giorgio Tasca, Conrad C Weihl
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. Annals of clinical and translational neurology (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Ozlem Herguner, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Peter B Kang
Skipping, Steroids, and Genes: The First 7 Therapies for Duchenne Muscular Dystrophy. Neurology 102 (5) (2024)
Isabelle Draper, Wanting Huang, Suchita Pande, Aaron Zou, Timothy D Calamaras, Richard H Choe, Ana Correia-Branco, Ariel L Mei, Howard H Chen, Hannah R Littel, Mekala Gunasekaran, Natalya M Wells, Christine C Bruels, Audrey L Daugherty, Matthew J Wolf, Peter B Kang, Vicky K Yang, Donna K Slonim, Mary C Wallingford, Robert M Blanton
The splicing factor hnRNPL demonstrates conserved myocardial regulation across species and is altered in heart failure. FEBS letters (2024)
Andres Nascimento, Christine C Bruels, Sandra Donkervoort, A Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A Stafki, Lynn S Pais, Vijay S Ganesh, Anne O'Donnell-Luria, Safoora B Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G W Lidov, Andrew L Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T Darras, Cristina Jou, Louis M Kunkel, Janet Hoenicka, Carsten G Bönnemann, Peter B Kang, Daniel Natera-de Benito
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta neuropathologica 145 (4) (2023)
Andres Nascimento, Christine C Bruels, Sandra Donkervoort, A Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A Stafki, Lynn S Pais, Vijay S Ganesh, Anne O'Donnell-Luria, Safoora B Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G W Lidov, Andrew L Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T Darras, Cristina Jou, Louis M Kunkel, Janet Hoenicka, Carsten G Bönnemann, Peter B Kang, Daniel Natera-de Benito
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta neuropathologica (2023)
Peter B Kang, Magali Jorand-Fletcher, Wanfang Zhang, Suzanne W McDermott, Reba Berry, Chelsea Chambers, Kristen N Wong, Yara Mohamed, Shiny Thomas, Y Swamy Venkatesh, Christina Westfield, Nedra Whitehead, Nicholas E Johnson, null null
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network. Neurology. Genetics 9 (6) (2023)
Andres Nascimento, Christine C Bruels, Sandra Donkervoort, A Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A Stafki, Lynn S Pais, Vijay S Ganesh, Anne O'Donnell-Luria, Safoora B Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G W Lidov, Andrew L Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T Darras, Cristina Jou, Louis M Kunkel, Janet Hoenicka, Carsten G Bönnemann, Peter B Kang, Daniel Natera-de Benito
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta neuropathologica 145 (4) (2023)
Andres Nascimento, Christine C Bruels, Sandra Donkervoort, A Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A Stafki, Lynn S Pais, Vijay S Ganesh, Anne O'Donnell-Luria, Safoora B Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G W Lidov, Andrew L Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T Darras, Cristina Jou, Louis M Kunkel, Janet Hoenicka, Carsten G Bönnemann, Peter B Kang, Daniel Natera-de Benito
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta neuropathologica 145 (4) (2023)
Tess Holling, Sheela Nampoothiri, Bedirhan Tarhan, Pauline E Schneeberger, Kollencheri Puthenveettil Vinayan, Dhanya Yesodharan, Arun Grace Roy, Periyasamy Radhakrishnan, Malik Alawi, Lindsay Rhodes, Katta Mohan Girisha, Peter B Kang, Kerstin Kutsche
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. European journal of human genetics : EJHG 30 (4) (2022)
Dorianmarie Vargas-Franco, Raghav Kalra, Isabelle Draper, Christina A Pacak, Atsushi Asakura, Peter B Kang
The Notch signaling pathway in skeletal muscle health and disease. Muscle & nerve 66 (5) (2022)
Melissa Maguina, Peter B Kang, Ang-Chen Tsai, Christina A Pacak
Peripheral neuropathies associated with DNA repair disorders. Muscle & nerve (2022)
Katherin E Portwood, Mehmet S Albayram, Sarah Stone, Carla D Zingariello, John T Sladky, Harvey Chim, Peter B Kang
Clinical, electrophysiological, and imaging findings in childhood brachial plexus injury. Developmental medicine and child neurology 64 (10) (2022)
Christine C Bruels, Hannah R Littel, Audrey L Daugherty, Seth Stafki, Elicia A Estrella, Emily S McGaughy, Don Truong, Jonathan P Badalamenti, Lynn Pais, Vijay S Ganesh, Anne O'Donnell-Luria, Heather J Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J L F Lemmers, Silvère M van der Maarel, Regina Laine, Partha S Ghosh, Basil T Darras, Carla D Zingariello, Christina A Pacak, Louis M Kunkel, Peter B Kang
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Annals of clinical and translational neurology 9 (8) (2022)
Manuel A Viamonte, Stephanie L Filipp, Zara Zaidi, Matthew J Gurka, Barry J Byrne, Peter B Kang
Phenotypic implications of pathogenic variant types in Pompe disease. Journal of human genetics 66 (11) (2021)
Elicia A Estrella, Peter B Kang
Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty. Muscle & nerve 63 (3) (2021)
Matthew S Alexander, Rylie M Hightower, Andrea L Reid, Alexis H Bennett, Lakshmanan Iyer, Donna K Slonim, Madhurima Saha, Genri Kawahara, Louis M Kunkel, Alan S Kopin, Vandana A Gupta, Peter B Kang, Isabelle Draper
hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle & nerve 63 (6) (2021)
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W Sommerville, Emma L Blakely, Jack J Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J Bleyer, Kim L McBride, Sasigarn A Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A Tarnopolsky, Lauren I Brady, K Nicole Weaver, Carlos E Prada, Katrin Õunap, Monica H Wojcik, Sander Pajusalu, Safoora B Syeda, Lynn Pais, Elicia A Estrella, Christine C Bruels, Louis M Kunkel, Peter B Kang, Penelope E Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S Gorman, Maria Falkenberg, Claes M Gustafsson, Robert W Taylor
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature communications 12 (1) (2021)
Peter B Kang, Hugh J McMillan, Nancy L Kuntz, Tanya J Lehky, Katharine E Alter, Kevin F Fitzpatrick, Charbel El Kosseifi, Susana Quijano-Roy, null null
Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement. Muscle & nerve 61 (2) (2020)
Naomi T Laventhal, Robert J Graham, Sonja A Rasmussen, David K Urion, Peter B Kang
Ethical decision-making for children with neuromuscular disorders in the COVID-19 crisis. Neurology 95 (6) (2020)
Chengcheng Li, Dorianmarie Vargas-Franco, Madhurima Saha, Rachel M Davis, Kelsey A Manko, Isabelle Draper, Christina A Pacak, Peter B Kang
Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration. FEBS open bio 11 (1) (2020)
Scott A Heller, Renata Shih, Raghav Kalra, Peter B Kang
Emery-Dreifuss muscular dystrophy. Muscle & nerve 61 (4) (2019)
Christine C Bruels, Chengcheng Li, Tonatiuh Mendoza, Jamillah Khan, Hemakumar M Reddy, Elicia A Estrella, Partha S Ghosh, Basil T Darras, Hart G W Lidov, Christina A Pacak, Louis M Kunkel, Francois P Modave, Isabelle Draper, Peter B Kang
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Molecular genetics & genomic medicine 7 (3) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Peter B Kang