Kishore Raj Kumar (Kishore Kumar, Kishore R Kumar)

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 48

Top Topics

Intellectual Disability

Deep Brain Stimulation

Top Venues

Movement disorders clinical practice

Journal of the peripheral nervous system : JPNS

medRxiv : the preprint server for health sciences

Movement disorders : official journal of the Movement Disorder Society

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

Publications

Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira W Deveson, Igor Stevanovski, Marion Stoll, Danqing Zhu, Ramesh K Narayanan, Bianca Rose Grosz, Lisa Worgan, Pak Leng Cheong, Dennis Yeow, Laura Ivete Rudaks, Md Mehedi Hasan, Vanessa M Hayes, Marina L Kennerson, Kishore Raj Kumar, Michael Hayes
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia. Movement disorders clinical practice (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale. Movement disorders : official journal of the Movement Disorder Society (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS (2024)
Danique Beijer, Maike F Dohrn, Adriana P Rebelo, Matt C Danzi, Bianca Rose Grosz, Melina Ellis, Kishore Raj Kumar, Steve Vucic, Horia Vais, Jillian S Weissenrieder, Olesia Lunko, Usha Paudel, Leah C Simpson, Jacquelyn Raposo, Mario Saporta, Yeisha Arcia, Isaac Xu, Shawna Feely, Christopher J Record, Julian Blake, Mary M Reilly, Steven Scherer, Marina Kennerson, Yi-Chung Lee, J Kevin Foskett, Michael Shy, Stephan Zuchner
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain : a journal of neurology (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Jevin M Parmar, Elyshia L McNamara, Phillipa J Lamont, Kishore Raj Kumar, Audrey Rick, Marion Stoll, Pak Leng Cheong, Gianina Ravenscroft
Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report. Neurology. Genetics 10 (3) (2024)
Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira W Deveson, Igor Stevanovski, Marion Stoll, Danqing Zhu, Ramesh K Narayanan, Bianca Rose Grosz, Lisa Worgan, Pak Leng Cheong, Dennis Yeow, Laura Ivete Rudaks, Md Mehedi Hasan, Vanessa M Hayes, Marina L Kennerson, Kishore Raj Kumar, Michael Hayes
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia. Movement disorders clinical practice 11 (5) (2024)
Dennis Yeow, Laura Ivete Rudaks, Sue-Faye Siow, Ryan L Davis, Kishore Raj Kumar
Genetic Testing of Movements Disorders: A Review of Clinical Utility. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Kishore Raj Kumar, Mark J Cowley, Ryan L Davis
Next-Generation Sequencing and Emerging Technologies. Seminars in thrombosis and hemostasis (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Laura Ivete Rudaks, Dennis Yeow, Karl Ng, Ira W Deveson, Marina L Kennerson, Kishore Raj Kumar
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches. Cerebellum (London, England) (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira W Deveson, Igor Stevanovski, Marion Stoll, Danqing Zhu, Ramesh K Narayanan, Bianca Rose Grosz, Lisa Worgan, Pak Leng Cheong, Dennis Yeow, Laura Ivete Rudaks, Md Mehedi Hasan, Vanessa M Hayes, Marina L Kennerson, Kishore Raj Kumar, Michael Hayes
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia. Movement disorders clinical practice 11 (5) (2024)
Dennis Yeow, Laura Ivete Rudaks, Sue-Faye Siow, Ryan L Davis, Kishore Raj Kumar
Genetic Testing of Movements Disorders: A Review of Clinical Utility. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Dennis Yeow, Laura Ivete Rudaks, Sue-Faye Siow, Ryan L Davis, Kishore Raj Kumar
Genetic Testing of Movements Disorders: A Review of Clinical Utility. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Laura Ivete Rudaks, Dennis Yeow, Kishore Raj Kumar
SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies. Movement disorders : official journal of the Movement Disorder Society 39 (3) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira W Deveson, Igor Stevanovski, Marion Stoll, Danqing Zhu, Ramesh K Narayanan, Bianca Rose Grosz, Lisa Worgan, Pak Leng Cheong, Dennis Yeow, Laura Ivete Rudaks, Md Mehedi Hasan, Vanessa M Hayes, Marina L Kennerson, Kishore Raj Kumar, Michael Hayes
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia. Movement disorders clinical practice 11 (5) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Humera Manzoor, Hafsa Zahid, Christopher A Emerling, Kishore Raj Kumar, Hafiz Muhammad Jafar Hussain, Go Hun Seo, Muhammad Wajid, Sadaf Naz
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans. European journal of human genetics : EJHG (2023)
Laura J Williams, Jessica Qiu, Tien Lee Ong, Ira W Deveson, Igor Stevanovski, Sanju R Chintalaphani, Avi Fellner, Winny Varikatt, Hugo Morales-Briceno, Michel Tchan, Kishore Raj Kumar, Victor S C Fung
NOTCH2NLC GGC Repeat Expansion Presenting as Adult-Onset Cervical Dystonia. Movement disorders clinical practice 10 (4) (2023)
Philip Harrer, Matej Skorvanek, Volker Kittke, Ivana Dzinovic, Friederike Borngräber, Mirja Thomsen, Vanessa Mandel, Tatiana Svorenova, Miriama Ostrozovicova, Kristina Kulcsarova, Riccardo Berutti, Hauke Busch, Fabian Ott, Robert Kopajtich, Holger Prokisch, Kishore Raj Kumar, Niccolò Emanuele Mencacci, Manju A Kurian, Alessio di Fonzo, Sylvia Boesch, Andrea A Kühn, Ulrike Blümlein, Katja Lohmann, Bernhard Haslinger, David Weise, Robert Jech, Juliane Winkelmann, Michael Zech
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. Movement disorders : official journal of the Movement Disorder Society (2023)
Lara M Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore Raj Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew B Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, null null
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2). NPJ Parkinson's disease 9 (1) (2023)
Sue-Faye Siow, Dennis Yeow, Laura Ivete Rudaks, Fangzhi Jia, Gautam Wali, Carolyn M Sue, Kishore Raj Kumar
Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review. Genes 14 (9) (2023)
Lara M Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore Raj Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew B Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, null null
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2). NPJ Parkinson's disease 9 (1) (2023)
Lara M Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore Raj Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew B Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, null null
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2). NPJ Parkinson's disease 9 (1) (2023)
Humera Manzoor, Hafsa Zahid, Christopher A Emerling, Kishore Raj Kumar, Hafiz Muhammad Jafar Hussain, Go Hun Seo, Muhammad Wajid, Sadaf Naz
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans. European journal of human genetics : EJHG (2023)
Lara M Lange, Paulina Gonzalez-Latapi, Rajasumi Rajalingam, Marina A J Tijssen, Darius Ebrahimi-Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore Raj Kumar, Anthony E Lang, Marcelo Merello, Sterre van der Veen, Bart van de Warrenburg, Tom Warner, Katja Lohmann, Christine Klein, Connie Marras, null null
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update. Movement disorders : official journal of the Movement Disorder Society 37 (5) (2022)
Bianca Rose Grosz, Igor Stevanovski, Sara Negri, Melina Ellis, Stephanie Barnes, Stephen Reddel, Steve Vucic, Garth A Nicholson, Andrea Cortese, Kishore Raj Kumar, Ira W Deveson, Marina L Kennerson
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy. Journal of the peripheral nervous system : JPNS 27 (2) (2022)
Laura Ivete Rudaks, Eloise Watson, Carly Oboudiyat, Kishore Raj Kumar, Patricia Sullivan, Mark J Cowley, Ryan L Davis, Carolyn M Sue
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants. American journal of medical genetics. Part A 188 (7) (2022)
Raja Mehanna, Katarzyna Śmilowska, Jori Fleisher, Bart Post, Taku Hatano, Maria Elisa Pimentel Piemonte, Kishore Raj Kumar, Victor McConvey, Bao-Rong Zhang, Eng-King Tan, Rodolfo Savica, null null
Age Cutoff for Early-Onset Parkinson's Disease: Recommendations from the International Parkinson and Movement Disorder Society Task Force on Early Onset Parkinson's Disease. Movement disorders clinical practice 9 (7) (2022)
Bianca Rose Grosz, Stephen Tisch, Michel C Tchan, Victor S C Fung, Paul Darveniza, Avi Fellner, Manju A Kurian, Alison McLean, Susan E Tomlinson, Renee Smyth, Sophie Devery, Kathy H C Wu, Marina L Kennerson, Kishore Raj Kumar
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. Molecular genetics & genomic medicine 10 (5) (2022)
Ryan L Davis, Kishore Raj Kumar, Clare Puttick, Christina Liang, Kate E Ahmad, Fabienne Edema-Hildebrand, Jin-Sung Park, Andre E Minoche, Velimir Gayevskiy, Amali C Mallawaarachchi, John Chrisodoulou, Deborah Schofield, Marcel E Dinger, Mark J Cowley, Carolyn M Sue
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. Neurology 99 (7) (2022)
Fangzhi Jia, Avi Fellner, Kishore Raj Kumar
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing. Genes 13 (3) (2022)
Avi Fellner, Kishore Raj Kumar
Harnessing Transcriptomics to Decipher Dystonia Pathogenesis. Movement disorders : official journal of the Movement Disorder Society 37 (5) (2022)
Wui-Kwan Wong, Christopher Troedson, Russell C Dale, Tony Roscioli, Michael Field, Elizabeth Palmer, Ellenore M Martin, Kishore Raj Kumar, Shekeeb S Mohammad
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2 . Movement disorders clinical practice 9 (Suppl 2) (2022)
Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, James M Ferguson, Sandy S Pineda, Carolin K Scriba, Michel C Tchan, Victor S C Fung, Karl Ng, Andrea Cortese, Henry Houlden, Carol Dobson-Stone, Lauren Fitzpatrick, Glenda M Halliday, Gianina Ravenscroft, Mark R Davis, Nigel G Laing, Avi Fellner, Marina L Kennerson, Kishore Raj Kumar, Ira W Deveson
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Science advances 8 (9) (2022)
Ellenore M Martin, Ying Zhu, Claudine M Kraan, Kishore Raj Kumar, David E Godler, Michael Field
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS). Journal of medical genetics (2021)
Lydia Saputra, Kishore Raj Kumar
Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia. Current neurology and neuroscience reports 21 (4) (2021)
Sanjog R Chintalaphani, Sandy S Pineda, Ira W Deveson, Kishore Raj Kumar
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics. Acta neuropathologica communications 9 (1) (2021)
Aryun Kim, Kishore Raj Kumar, Ryan L Davis, Amali C Mallawaarachchi, Velimir Gayevskiy, Andre E Minoche, Zachary Walls, Han-Joon Kim, Mihee Jang, Mark J Cowley, Ji-Hyun Choi, Chaewon Shin, Carolyn M Sue, Beomseok Jeon
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing. Cerebellum (London, England) 18 (4) (2020)
Gautam Wali, G M Wali, Carolyn M Sue, Kishore Raj Kumar
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review. Neuropediatrics 50 (4) (2019)
Kishore Raj Kumar, Mark J Cowley, Ryan L Davis
Next-Generation Sequencing and Emerging Technologies. Seminars in thrombosis and hemostasis 45 (7) (2019)
Ce Kang, Christina Liang, Kate E Ahmad, Yufan Gu, Sue-Faye Siow, James G Colebatch, Scott Whyte, Karl Ng, Philip D Cremer, Alastair J Corbett, Ryan L Davis, Tony Roscioli, Mark J Cowley, Jin-Sung Park, Carolyn M Sue, Kishore Raj Kumar
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia. Cerebellum (London, England) 18 (1) (2019)
Bianca Rose Grosz, Natasha B Golovchenko, Melina Ellis, Kishore Raj Kumar, Garth A Nicholson, Anthony Antonellis, Marina L Kennerson
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). Scientific reports 9 (1) (2019)