Joseph G. Gleeson

Also affiliated with Children’s Institute, UC San Diego Health System, University of California San Diego, Universidad Católica Santo Domingo

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 4%percentile

0.763Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.07.487401

Top 37%

0.522DataRank

Top 37%11 citations

Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels +45 more

Papers

Driven by 46 papers — median percentile 51. Top paper: “TMEM161B modulates radial glial scaffolding in neocortical development”.

TMEM161B modulates radial glial scaffolding in neocortical development

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2209983120

N/A

0.632DataRank · unranked

16 citations

Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee +15 more

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.07.487401

Top 37%

0.522DataRank

Top 37%11 citations

Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels +45 more

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders

Cell stem cell(2025)10.1016/j.stem.2025.10.006

Top 61%

0.241DataRank

Top 61%4 citations

Y. Nakamura, Junhao Li, David Sievert, Yang Liu, Toan D. Nguyen +16 more

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

Proceedings of the National Academy of Sciences(2020)10.1073/pnas.1908238117

N/A

0DataRank · unranked

68 citations

Lu Wang, A. Krokhotin, Jessica J. Walsh, Hongjie Li, Hirotaka Shoji +24 more

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

BMC Medical Genomics(2020)10.1186/s12920-020-0714-1

N/A

0DataRank · unranked

14 citations

Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy‐Venneri, Denice Belandres +7 more

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Orphanet Journal of Rare Diseases(2020)10.1186/s13023-020-01461-1

N/A

0DataRank · unranked

10 citations

Renee D. George, Peter Waltman, Ayman W. El‐Hattab, Kiely N. James, Valentina Stanley +2 more

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Genetics in Medicine(2020)10.1038/s41436-020-01010-y

N/A

0DataRank · unranked

37 citations

Sangmoon Lee, Rudy Fabunan, Guoliang Chai, Maha S. Zaki, Ghada M. H. Abdel‐Salam +25 more

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765

N/A

0DataRank · unranked

29 citations

Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik‐Jan Kamsteeg, Reza Maroofian +24 more

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.14.382473

N/A

0DataRank · unranked

4 citations

Xin Xu, Martin W. Breuss, Danny Antaki, Laurel Ball, Changuk Chung +10 more

Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.14.339796

N/A

0DataRank · unranked

3 citations

Martin W. Breuss, Xin Xu, Danny Antaki, Kiely N. James, Valentina Stanley +13 more

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

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.07.938894

N/A

0DataRank · unranked

1 citations

Bertrand Boisson, Anne Gregor, Vivien Béziat, Stéphanie Boisson‐Dupuis, Jacinta Bustamante +11 more

A human three-dimensional neural-perivascular ‘assembloid’ promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology

Nature Medicine(2021)10.1038/s41591-021-01443-1

N/A

0DataRank · unranked

148 citations

David Sievert, Alex E. Clark, Sangmoon Lee, Hannah G. Federman, Benjamin D. Gastfriend +5 more

Developmental and temporal characteristics of clonal sperm mosaicism

Cell(2021)10.1016/j.cell.2021.07.024

N/A

0DataRank · unranked

57 citations

Martin W. Breuss, Xin Xu, Danny Antaki, Kiely N. James, Valentina Stanley +13 more

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature Communications(2021)10.1038/s41467-021-22627-w

N/A

0DataRank · unranked

52 citations

Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee +65 more

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

New England Journal of Medicine(2021)10.1056/nejmoa2033911

N/A

0DataRank · unranked

46 citations

Emmanuelle Szenker‐Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo +25 more

Sperm mosaicism: implications for genomic diversity and disease

Trends in Genetics(2021)10.1016/j.tig.2021.05.007

N/A

0DataRank · unranked

30 citations

Xiaoxu Yang, Joseph G. Gleeson, Martin W. Breuss

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration

Scientific Reports(2021)10.1038/s41598-021-83058-7

N/A

0DataRank · unranked

21 citations

Luke Hebert, Paul R. Hillman, Craig Baker, Michael R. Brown, D.-K. Kim +9 more

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

Brain(2021)10.1093/brain/awab403

N/A

0DataRank · unranked

17 citations

Guoliang Chai, Pauline E. Schneeberger, Frederike L. Harms, Christian Casar, Minyue Qi +10 more

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.003

N/A

0DataRank · unranked

23 citations

Sze Hwee Seet, Michael Maier, Ayşe Gürel, Ricardo Moreno Traspas, Cheryl Lee +67 more

A Human 3D neural assembloid model for SARS-CoV-2 infection

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.02.09.430349

N/A

0DataRank · unranked

6 citations

David Sievert, Alex E. Clark, Hannah G. Federman, Benjamin D. Gastfriend, Eric V. Shusta +4 more

A Human 3D neural assembloid model for SARS-CoV-2 infection

Research Square(2021)10.21203/rs.3.rs-214352/v1

N/A

0DataRank · unranked

5 citations

Lu Wang, David Sievert, Alex E. Clark, Hannah G. Federman, Benjamin D. Gastfriend +4 more

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

medRxiv(2021)10.1101/2021.03.31.21253863

N/A

0DataRank · unranked

0 citations

Sze Hwee Seet, Michael Maier, Ricardo Moreno Traspas, Cheryl Lee, Zhang Shan +42 more

A Zika virus mutation enhances transmission potential and confers escape from protective dengue virus immunity

Cell Reports(2022)10.1016/j.celrep.2022.110655

N/A

0DataRank · unranked

61 citations

Ying-Ting Wang, Camila R. Fontes-Garfias, Yang Liu, Thasneem Syed, Mercylia Susantono +12 more

Monoallelic and biallelic mutations inRELNunderlie a graded series of neurodevelopmental disorders

Brain(2022)10.1093/brain/awac164

N/A

0DataRank · unranked

22 citations

Renzo Guerrini, Charles J. Billington, A. James Barkovich, Philine Dinkel, Elena Freri +21 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

medRxiv(2022)10.1101/2022.08.23.22278845

N/A

0DataRank · unranked

0 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Levesque +80 more

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Nature Genetics(2023)10.1038/s41588-022-01276-9

N/A

0DataRank · unranked

112 citations

Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels +76 more

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

JAMA Network Open(2023)10.1001/jamanetworkopen.2022.54069

N/A

0DataRank · unranked

45 citations

Meredith S. Wright, Serge Batalov, Yong-Hyun Kwon, Yan Ding, Kevin Chau +12 more

Stem Cell–Based Organoid Models of Neurodevelopmental Disorders

Biological Psychiatry(2023)10.1016/j.biopsych.2023.01.012

N/A

0DataRank · unranked

43 citations

Charlotte Owusu-Hammond, David Sievert, Joseph G. Gleeson, Lu Wang

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63363

N/A

0DataRank · unranked

11 citations

Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee +9 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.10.24.563814

N/A

0DataRank · unranked

4 citations

Xiaoxu Yang, Robert F. Hevner, Katie Kennedy, Keng Ioi Vong, Yang Liu +10 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain

Nature(2024)10.1038/s41586-024-07292-5

N/A

0DataRank · unranked

54 citations

Xiaoxu Yang, Robert F. Hevner, Katie Kennedy, Keng Ioi Vong, Yang Liu +12 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0DataRank · unranked

24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

EBioMedicine(2024)10.1016/j.ebiom.2024.105297

N/A

0DataRank · unranked

12 citations

Cesar Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli +46 more

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278

N/A

0DataRank · unranked

8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Nature Communications(2024)10.1038/s41467-024-51310-z

N/A

0DataRank · unranked

5 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Lévesque +80 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

medRxiv(2024)10.1101/2024.12.22.24319370

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +30 more

The contribution of de novo coding mutations to meningomyelocele

Nature(2025)10.1038/s41586-025-08676-x

N/A

0DataRank · unranked

13 citations

Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace +74 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

Closing in on Mechanisms of Open Neural Tube Defects

Trends in Neurosciences(2020)10.1016/j.tins.2020.04.009

N/A

0DataRank · unranked

93 citations

Joseph G. Gleeson, Sangmoon Lee

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 more

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Nature Communications(2020)10.1038/s41467-020-17454-4

N/A

0DataRank · unranked

88 citations

Zhen Li, David Sievert, Desirée E.C. Smith, Marisa I. Mendes, Dillon Y. Chen +10 more

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Neuron(2020)10.1016/j.neuron.2020.10.035

N/A

0DataRank · unranked

59 citations

A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss +32 more

Joseph G. Gleeson

Indexed papers

Top data-sharing exemplar

Papers