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Peter B Kang

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 19

Top Venues

Muscle & nerve

Acta neuropathologica

Developmental medicine and child neurology

Molecular genetics & genomic medicine

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 1o 2013

United States

Chief, Division of Pediatric Neurology :: Pediatrics

Publications

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