Author

Joseph G. Gleeson

University of California San DiegoORCID 0000-0002-0889-9220Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 18 Genetics· 8 Genomics· 6 Neuroscience· 2 Developmental Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 35 Approach:statistical model· 26 Research Focus:variant calling· 15 Approach:experimental assay· 14 Research Focus:differential expression· 13 Assay:whole-genome sequencing· 13 Research Focus:cell type annotation· 8 Assay:whole-exome sequencing· 8

Frequent Co-Authors

Xiaoxu YangiD· 11 shared Maha Saad ZakiiD· 10 shared Chelsea BarrowsiD· 6 shared Martin W. BreussiD· 6 shared Stephen Francis KingsmoreiD· 6 shared Valentina StanleyiD· 6 shared Changuk ChungiD· 5 shared Danny AntakiiD· 5 shared

Activity by Year

2018-2026 · peak 9/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

11 shared papersGenomics

Xiaoxu YangORCID

Mutual co-authors in cluster

Author profile →

35 papers

Recent·Most cited

GeneticsProceedings of the National Academy of SciencesPeer-reviewedJan 6, 2021

Negative selection on human genes causing severe inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Franck Rapaport, Bertrand Boisson, Anne Gregor…·Étienne Patin

The paper develops CoNeS to assess negative selection on genes causing severe inborn errors, finding that disease outcome and inheritance mode/mechanism influence selection strength.

87 citationstop 1%

humanstatistical model

𝕏 PostBluesky

GeneticsNature CommunicationsPeer-reviewedNov 30, 2020

MINPP1 prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson…·Vincent Cantagrel

This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.

62 citationstop 2%

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsNature MedicinePeer-reviewedDec 23, 2019

Quantification of autism recurrence risk by direct assessment of paternal sperm mosaicism

Martin W. Breuss, Danny Antaki, Renee D. George…·Joseph G. Gleeson

The paper quantifies autism recurrence risk by detecting paternal sperm mosaicism through single molecule genotyping and whole genome sequencing.

104 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsPLoS GeneticsPeer-reviewedApr 29, 2019

Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction

Dov Tiosano, Hagit N. Baris, Anlu Chen…·David A. Buchner

The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.

67 citationstop 3%

humanstatistical model

𝕏 PostBluesky

GenomicsSciencePeer-reviewedApr 20, 2018

Paternally inherited noncoding structural variants contribute to autism

William M. Brandler, Danny Antaki, Madhusudan Gujral…·Jonathan L. Sebat

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

209 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky