Joseph G. Gleeson
University of California, San Diego
368 Papers
1K Citations
Joseph G. Gleeson is an academic researcher from University of California, San Diego. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 86, co-authored 307 publications. Previous affiliations of Joseph G. Gleeson include Casa Sollievo della Sofferenza & University of California, Berkeley.
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Papers
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
David A. Dyment,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Pankaj B. Agrawal,Zeynep Coban Akdemir,Kyrieckos A. Aleck,Danny Antaki,Danny Antaki,Hind Al Sharhan,Hind Al Sharhan,Ping-Yee B Au,Hatip Aydin,Alan H. Beggs,Kaya Bilguvar,Eric Boerwinkle,Harrison Brand,Harrison Brand,Catherine A. Brownstein,Steve Buyske,Bernard N. Chodirker,Jungmin Choi,Jungmin Choi,Albert E. Chudley,Carol L. Clericuzio,Gerald F. Cox,Cynthia J. Curry,Elke de Boer,Bert B.A. de Vries,Kathryn Dunn,Cullen M. Dutmer,Eleina M. England,Jill A. Fahrner,Bilgen Bilge Geçkinli,Casie A. Genetti,Alper Gezdirici,William T. Gibson,Joseph G. Gleeson,Joseph G. Gleeson,Cheryl R. Greenberg,April Hall,Ada Hamosh,Taila Hartley,Shalini N. Jhangiani,Ender Karaca,Kristin D. Kernohan,Julie Lauzon,M. E. Suzanne Lewis,R. Brian Lowry,Francesc López-Giráldez,Tara C. Matise,Jennifer McEvoy-Venneri,Jennifer McEvoy-Venneri,Brenda McInnes,Aziz Mhanni,Sixto Garcia Minaur,Jukka S. Moilanen,An Nguyen,An Nguyen,Małgorzata J.M. Nowaczyk,Jennifer E. Posey,Katrin Õunap,Davut Pehlivan,Davut Pehlivan,Sander Pajusalu,Sander Pajusalu,Lynette S. Penney,Timothy Poterba,Timothy Poterba,Paolo Prontera,Maria Juliana Rodovalho Doriqui,Sarah L. Sawyer,Nara Sobreira,Valentina Stanley,Valentina Stanley,Deniz Torun,David S. Wargowski,P. Dane Witmer,Isaac Wong,Isaac Wong,Jinchuan Xing,Maha S. Zaki,Yeting Zhang,Centers for Mendelian Genomics,Kym M. Boycott,Michael J. Bamshad,Deborah A. Nickerson,Elizabeth E. Blue,A. Micheil Innes +87 more
TL;DR: The DubS‐like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype.
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CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.
Ariana Kariminejad,Ludger Schöls,Rebecca Schüle,Rebecca Schüle,Seyed-Hasan Tonekaboni,Ayda Abolhassani,Mahsa Fadaee,Rasim Ozgur Rosti,Joseph G. Gleeson +8 more
TL;DR: Two novel mutations in CYP2U1 in two unrelated patients by whole exome sequencing are identified, suggesting dystonia as an additional finding in SPG56, an autosomal recessive form of HSP with complicated and uncomplicated manifestations.
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mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly
Camila Araújo Bernardino Garcia,Simone da Costa e Silva Carvalho,Xiaoxu Yang,Laurel L. Ball,Renee D. George,Kiely N. James,Valentina Stanley,Martin W. Breuss,Ursula Thomé,Marcelo Volpon Santos,Fabiano Pinto Saggioro,Luciano Neder Serafini,Wilson A. Silva,Joseph G. Gleeson,Hélio Rubens Machado +14 more
- 03 Jan 2020
TL;DR: This study was aimed at identifying specific variants in mTOR signaling pathway genes in patients diagnosed with HME.
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Sperm mosaicism: implications for genomic diversity and disease
TL;DR: Sperm mosaicism can be divided into three types: Type I arises during sperm meiosis and is non-age dependent; Type II arises in spermatogonia and increases as men age; and Type III arises during paternal embryogenesis, spreads throughout the body, and contributes stably to sperm throughout life.
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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
Sheng-Jia Lin,Barbara Vona,Barbara Vona,Patricia G. Barbalho,Rauan Kaiyrzhanov,Reza Maroofian,Cassidy Petree,Mariasavina Severino,Valentina Stanley,Pratishtha Varshney,Paulina Bahena,Fatema Alzahrani,Amal Alhashem,Alistair T. Pagnamenta,Gudrun Aubertin,Juvianee I. Estrada-Veras,Juvianee I. Estrada-Veras,Juvianee I. Estrada-Veras,Héctor Adrián Díaz Hernández,Neda Mazaheri,Andrea M. Oza,Jenny Thies,Deborah L. Renaud,Sanmati Dugad,Jennifer McEvoy,Tipu Sultan,Lynn Pais,Brahim Tabarki,Daniel Villalobos-Ramirez,Aboulfazl Rad,Hamid Galehdari,Farah Ashrafzadeh,Afsaneh Sahebzamani,Kolsoum Saeidi,Erin Torti,Houda Zghal Elloumi,Sara Mora,Timothy Blake Palculict,Hui Yang,Jonathan D. Wren,Ben Fowler,Manali Joshi,Martine Behra,Shawn M. Burgess,Swapan K. Nath,Michael G. Hanna,Margaret A. Kenna,J. Lawrence Merritt,Henry Houlden,Ehsan Ghayoor Karimiani,Maha S. Zaki,Thomas Haaf,Fowzan S. Alkuraya,Joseph G. Gleeson,Gaurav K. Varshney +54 more
TL;DR: In this article, the authors identified 22 affected individuals from 16 unrelated families harboring biallelic likely pathogenic or pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) variants.
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