Joseph Gleeson
University of California, San Diego
H-index: 99
North America-United States
Top articles of Joseph Gleeson
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
The contribution of de novo coding mutations to meningomyelocele | medRxiv | Yoo-Jin Ha Joseph G Gleeson | 2024 |
Evaluation of the patients with the diagnosis of pontocerebellar hypoplasia: A multicenter national study | The Cerebellum | Dilek Cavusoglu Gulten Ozturk Dilsad Turkdogan Semra Hiz Kurul Uluc Yis | 2024/4/15 |
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. | medRxiv | Jordi Del-Pozo-Rodrigez Peggy Tilly Romain Lecat Hugo Rolando Vaca Laureline Mosser | 2024 |
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain | Nature | Changuk Chung Xiaoxu Yang Robert F Hevner Katie Kennedy Keng Ioi Vong | 2024/4/10 |
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders | Brain | Rauan Kaiyrzhanov Aboulfazl Rad Sheng-Jia Lin Aida Bertoli-Avella Wouter W Kallemeijn | 2024/4 |
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children | Clinical Genetics | Nour Elkhateeb Mahmoud Y Issa Hasnaa M Elbendary Walaa Elnaggar Areef Ramadan | 2024/1/14 |
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, identified in individuals with syndromic neurodevelopmental delay | medRxiv | Eden Engal Kaisa Teele Oja Reza Maroofian Ophir Geminder Thuy-Linh Le | 2023/6/27 |
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions | Cell Genomics | Eduardo A Maury Maxwell A Sherman Giulio Genovese Thomas G Gilgenast Tushar Kamath | 2023/8/9 |
Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy | Nature Genetics | Changuk Chung Xiaoxu Yang Joseph G Gleeson | 2023/11/8 |
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies | Brain Communications | Andrea Accogli Maha S Zaki Mohammed Al-Owain Mansour Y Otaif Adam Jackson | 2023 |
Stem cell–based organoid models of neurodevelopmental disorders | Lu Wang Charlotte Owusu-Hammond David Sievert Joseph G Gleeson | 2023/4/1 | |
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model | Acta Neuropathologica | Ruizhi Deng Eva Medico-Salsench Anita Nikoncuk Reshmi Ramakrishnan Kristina Lanko | 2023/8 |
Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome | American Journal of Medical Genetics Part A | M Makenzie Beaman Lucia Guidugli Monia Hammer Chelsea Barrows Anne Gregor | 2023/11 |
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis | medRxiv | Monica H Wojcik Gabrielle Lemire Maha S Zaki Mariel Wissmann Wathone Win | 2023 |
Reclassification of the etiology of infant mortality with whole-genome sequencing | JAMA network open | Mallory J Owen Meredith S Wright Sergey Batalov Yonghyun Kwon Yan Ding | 2023/2/1 |
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission | Brain | James Fasham Antje K Huebner Lutz Liebmann Reham Khalaf-Nazzal Reza Maroofian | 2023/11 |
Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS | Clinical Genetics | Maha S Zaki Wessam E Sharaf‐Eldin Karima Rafat Hasnaa M Elbendary Mona Kamel | 2023/8 |
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome | The American Journal of Human Genetics | Eden Engal Kaisa Teele Oja Reza Maroofian Ophir Geminder Thuy-Linh Le | 2023/12/7 |
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals | Genetics in Medicine | Ken Saida Reza Maroofian Toru Sengoku Tadahiro Mitani Alistair T Pagnamenta | 2023/1/1 |
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development | Nature Genetics | Changuk Chung Xiaoxu Yang Taejeong Bae Keng Ioi Vong Swapnil Mittal | 2023/2 |
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