Joseph D. Buxbaum

Also affiliated with Allen Institute for Brain Science, Massachusetts General Hospital, Child Health and Development Institute, Icahn School of Medicine at Mount Sinai

NeuroscienceBiochemistry, Genetics and Molecular BiologyMedicine

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 1%percentile

7.0Author DataRank

Indexed papers

7in 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 7 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.

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

Scientific Data(2020)10.1038/s41597-020-00642-8

Top 3%

6.5DataRank

Top 3%331 citations

Thanneer M. Perumal, Minerva M. Carrasquillo, Mariet Allen, Joseph S. Reddy, Gabriel E. Hoffman +95 more

Papers

Driven by 99 papers — median percentile 78. Top paper: “Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions”.

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

Scientific Data(2020)10.1038/s41597-020-00642-8

Top 3%

6.5DataRank

Top 3%331 citations

Thanneer M. Perumal, Minerva M. Carrasquillo, Mariet Allen, Joseph S. Reddy, Gabriel E. Hoffman +95 more

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.07.003

N/A

2.3DataRank · unranked

54 citations

Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa +24 more

APOE Genotype Results in Differential Effects on the Peripheral Clearance of Amyloid-β42 in APOE Knock-in and Knock-out Mice

Journal of Alzheimer's Disease(2010)10.3233/jad-2010-100141

N/A

2.1DataRank · unranked

55 citations

Michael Morici, Eugene Hone, Tamar Berger, Kevin Taddei, Ian J. Martins +8 more

Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups

Nature Genetics(2022)10.1038/s41588-022-01171-3

N/A

1.7DataRank · unranked

76 citations

Jakob Grove, Thomas D. Als, Joanna Martin, Georgios Voloudakis, Sandra Meier +29 more

Functional annotation of rare structural variation in the human brain

Nature Communications(2020)10.1038/s41467-020-16736-1

N/A

1.7DataRank · unranked

54 citations

Xuefang Zhao, Mary Lauren Benton, Thanneer M. Perumal, Ryan L. Collins, Gabriel E. Hoffman +65 more

Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts

Cell Reports(2020)10.1016/j.celrep.2020.107716

N/A

1.4DataRank · unranked

68 citations

Chris Chatzinakos, Michael S. Breen, Jakob Hartmann, Torsten Klengel, Ana C. da Silva Almeida +40 more

Biological insights from 108 schizophrenia-associated genetic loci

Nature(2014)10.1038/nature13595

N/A

1.3DataRank · unranked

8042 citations

Stephan Ripke, Aiden Corvin, Jesse R. Dixon, Kai-How Farh, Peter Holmans +284 more

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Nature Genetics(2022)10.1038/s41588-022-01203-y

N/A

1.3DataRank · unranked

55 citations

Emi Ling, Serkan Erdin, Derek J.C. Tai, Rachita Yadav, Jakob Grove +94 more

Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome

Molecular Autism(2022)10.1186/s13229-022-00493-7

N/A

1.3DataRank · unranked

45 citations

Michael S. Breen, Paige M. Siper, Danielle Halpern, Yitzchak Frank, Hillary Rieger +6 more

Functional impact of global rare copy number variation in autism spectrum disorders

Nature(2010)10.1038/nature09146

N/A

1.1DataRank · unranked

2044 citations

Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan +204 more

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Nature(2012)10.1038/nature11011

N/A

1.1DataRank · unranked

1794 citations

Yan Kou, Li Liu, Avi Ma’ayan, Kaitlin E. Samocha, Aniko Sabo +60 more

Population-level variation in enhancer expression identifies disease mechanisms in the human brain

Nature Genetics(2022)10.1038/s41588-022-01170-4

N/A

1.1DataRank · unranked

53 citations

Gabriel E. Hoffman, Pasha Apontes, Jaroslav Bendl, Samir Rahman, Michael B. Fernando +48 more

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Nature Genetics(2016)10.1038/ng.3725

N/A

1.1DataRank · unranked

1129 citations

Daniel P. Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S. Greer +267 more

A framework for the interpretation of de novo mutation in human disease

Nature Genetics(2014)10.1038/ng.3050

N/A

1.1DataRank · unranked

1119 citations

Elise B Robinson, Stephan J. Sanders, Christine Stevens, Aniko Sabo, Lauren M. McGrath +25 more

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

Cell Genomics(2023)10.1016/j.xgen.2023.100356

N/A

1.0DataRank · unranked

43 citations

Maxwell A. Sherman, Giulio Genovese, Thomas G. Gilgenast, Tushar Kamath, S.J. Burris +95 more

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Nature Genetics(2022)10.1038/s41588-022-01104-0

N/A

0.969DataRank · unranked

638 citations

F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong +112 more

Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.01.006

N/A

0.945DataRank · unranked

21 citations

Siddharth Srivastava, Anna K. Prohl, Benoît Scherrer, Kush Kapur, Rajna Filip‐Dhima +16 more

Calsenilin: A calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment

Nature Medicine(1998)10.1038/2673

N/A

0.877DataRank · unranked

345 citations

Eun-Kyoung Choi, Yuxia Luo, Christina Lilliehook, Annette C. Crowley, David E. Merriam +2 more

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Human Molecular Genetics(2021)10.1093/hmg/ddab280

N/A

0.637DataRank · unranked

69 citations

Jennifer H. Foss‐Feig, Catalina Betancur, Paige M. Siper, María del Pilar Trelles-Thorne, Danielle Halpern +14 more

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

PLoS Genetics(2022)10.1371/journal.pgen.1010367

N/A

0.635DataRank · unranked

68 citations

Gundula Povysil, Jack A. Kosmicki, Elizabeth T. Cirulli, Theodore G. Drivas, Simone Furini +95 more

Associations of Sex, Race, and Apolipoprotein E Alleles With Multiple Domains of Cognition Among Older Adults

JAMA Neurology(2023)10.1001/jamaneurol.2023.2169

N/A

0.609DataRank · unranked

57 citations

Alex G. Contreras, Jaclyn M. Eissman, Shubhabrata Mukherjee, Michael L. Lee, Seo‐Eun Choi +88 more

Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome

Biological Psychiatry(2021)10.1016/j.biopsych.2021.05.027

N/A

0.561DataRank · unranked

41 citations

Marta García-Forn, Dévina C. Ung, Kristi Niblo, Danielle Mendonca, Yeaji Park +11 more

Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder

medRxiv(2024)10.1101/2024.03.13.24304161

N/A

0.559DataRank · unranked

25 citations

Zachary F. Gerring, Marco Galimberti, Dongmei Yu, Matthew Halvorsen, Abdel Abdellaoui +95 more

Regulation of cell distancing in peri-plaque glial nets by Plexin-B1 affects glial activation and amyloid compaction in Alzheimer’s disease

Nature Neuroscience(2024)10.1038/s41593-024-01664-w

N/A

0.557DataRank · unranked

40 citations

Minghui Wang, Haofei Ni, Jinglong Zhang, Aiqun Li, Bin Hu +15 more

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

10.1101/2021.12.20.21267194

N/A

0.538DataRank · unranked

35 citations

F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong +60 more

Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Biological Psychiatry(2023)10.1016/j.biopsych.2023.01.023

N/A

0.520DataRank · unranked

31 citations

Apostolia Topaloudi, Pritesh Jain, Zhiyu Yang, Dongmei Yu, Petros Kolovos +94 more

Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development

Cell Reports(2022)10.1016/j.celrep.2022.111585

N/A

0.520DataRank · unranked

31 citations

Xuanjia Fan, Laura Sloofman, Lindsay Liang, Enrico Mossotto, Kendall Moore +11 more

Manifestations of Alzheimer’s disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90

Scientific Reports(2022)10.1038/s41598-022-09825-2

N/A

0.505DataRank · unranked

28 citations

John C. Earls, Andrew T. Magis, Sergey A. Kornilov, Jennifer C. Lovejoy, Cory C. Funk +94 more

Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions

Nature Communications(2024)10.1038/s41467-024-51037-x

N/A

0.500DataRank · unranked

27 citations

Daichi Shonai, Matthew Trn, Jieqing Zhao, Erik J. Soderblom, S. Alexandra Garcia-Moreno +9 more

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Translational Psychiatry(2023)10.1038/s41398-023-02341-5

N/A

0.494DataRank · unranked

26 citations

Tyne W. Miller‐Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi +89 more

mTADA is a framework for identifying risk genes from de novo mutations in multiple traits

Nature Communications(2020)10.1038/s41467-020-16487-z

N/A

0.477DataRank · unranked

23 citations

Amanda Dobbyn, Ruth C. Brown, Brien P. Riley, Joseph D. Buxbaum, Dalila Pinto +5 more

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer’s disease

Genome biology(2025)10.1186/s13059-025-03564-z

Top 41%

0.467DataRank

Top 41%16 citations

Penelope Benchek, Giuseppe Tosto, Nicholas A. Kushch, Jin Sha, Katrina Bazemore +95 more

Distinct genetic liability profiles define clinically relevant patient strata across common diseases

Nature Communications(2024)10.1038/s41467-024-49338-2

N/A

0.466DataRank · unranked

10 citations

Georgii Dolgalev, Sylvain Moser, Laura T. Jiménez-Barrón, Till F. M. Andlauer, Moritz von Scheidt +95 more

An evolutionary perspective on complex neuropsychiatric disease

Neuron(2023)10.1016/j.neuron.2023.10.037

N/A

0.464DataRank · unranked

21 citations

Anthony W. Zoghbi, Joseph D. Buxbaum, Carolina Cappi, James J. Crowley, Jonathan Flint +15 more

Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes

Proceedings of the National Academy of Sciences(2021)10.1073/pnas.2105191118

N/A

0.464DataRank · unranked

21 citations

James Dalgleish, Justin Lee, Chen Wang, Linxi Liu, Richard Gill +8 more

An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100138

N/A

0.457DataRank · unranked

20 citations

Tess Levy, Sarah B. Barkley, Sandra Bedrosian‐Sermone, Matthew M. Davis, Jennifer H. Foss‐Feig +14 more

LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry

Journal of Neuropathology & Experimental Neurology(2023)10.1093/jnen/nlad059

N/A

0.449DataRank · unranked

19 citations

David W. Fardo, Lincoln M. P. Shade, James D. Bowen, Paul K. Crane, Gail P. Jarvik +94 more

Latin American Trans‐ancestry INitiative for OCD genomics (LATINO): Study protocol

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2023)10.1002/ajmg.b.32962

N/A

0.434DataRank · unranked

17 citations

Carolina Cappi, Marcos E Ochoa-Panaifo, Renee M Frederick, Minjee Kook, Andrew D. Wiese +95 more

Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.04.03.587209

N/A

0.434DataRank · unranked

17 citations

Jonna Grimsby, Daniel P. Howrigan, Kai Yuan, Sinéad B. Chapman, Christine Stevens +12 more

Amyloid-β predominant Alzheimer’s disease neuropathologic change

Brain(2024)10.1093/brain/awae325

N/A

0.425DataRank · unranked

16 citations

Yuriko Katsumata, Xian Wu, Khine Zin Aung, David W. Fardo, Shelley L. Forrest +95 more

Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome

Frontiers in Neuroscience(2022)10.3389/fnins.2022.815933

N/A

0.396DataRank · unranked

13 citations

Hannah Grosman, Sylvia Guillory, Yian Zhang, Sarah B. Barkley, Christopher S. McLaughlin +7 more

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies LRRC4C, LHX5-AS1 and nominates ancestry-specific loci PTPRK , GRB14 , and KIAA0825 as novel risk loci for Alzheimer’s disease: the Alzheimer’s Disease Genetics Consortium

medRxiv(2023)10.1101/2023.07.06.23292311

N/A

0.373DataRank · unranked

11 citations

Penelope Benchek, Giuseppe Tosto, Nicholas A. Kushch, Jin Sha, Katrina Bazemore +95 more

Benchmarking empirical severity for the Yale-Brown Obsessive Compulsive Scale-Second Edition

Journal of Affective Disorders(2025)10.1016/j.jad.2025.119719

N/A

0.330DataRank · unranked

8 citations

Juliana Avery, Chencheng Zhang, Josselyn S. Muñoz, Dayan Berrones, Vanessa Zavala Cruz +93 more

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

medRxiv(2022)10.1101/2022.03.28.22273040

N/A

0.312DataRank · unranked

7 citations

Gundula Povysil, Jack A. Kosmicki, Elizabeth T. Cirulli, Theodore G. Drivas, Simone Furini +95 more

Liability threshold model-based disease risk prediction based on electronic health record phenotypes

Nature Genetics(2025)10.1038/s41588-025-02370-4

N/A

0.292DataRank · unranked

6 citations

Atlas Khan, Chen Wang, Chunhua Weng, Joseph D. Buxbaum, Krzysztof Kiryluk +2 more

Psychometric properties of the Spanish Yale-Brown Obsessive-Compulsive Scale – Second Edition

Psychiatry Research(2025)10.1016/j.psychres.2025.116456

N/A

0.269DataRank · unranked

5 citations

Jessica SC. Cheng, Miranda Higham, Josselyn S. Muñoz, Vanessa Zavala Cruz, Dayan Berrones +92 more

Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.29.065821

N/A

0.269DataRank · unranked

5 citations

Nicholas L. Mervosh, Ana N. Strat, Tanner J. Euston, Gillian Zipursky, Rebecca M. Pollak +12 more

The genetic architecture of obsessive-compulsive disorder: alleles across the frequency spectrum contribute liability to OCD

medRxiv10.1101/2021.01.26.21250409

N/A

0.233DataRank · unranked

3 citations

Lambertus Klei, Manuel Mattheisen, Matthew W. Halvorsen, Abraham Reichenberg, Kathryn Roeder +15 more

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

medRxiv(2022)10.1101/2022.09.01.22279340

N/A

0.225DataRank · unranked

3 citations

Tyne W. Miller‐Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi +46 more

Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change

American Journal on Intellectual and Developmental Disabilities(2025)10.1352/1944-7558-130.5.344

N/A

0.208DataRank · unranked

3 citations

Audrey Thurm, Tanvi Das, E. Martina Bebin, Jonathan A. Bernstein, Elizabeth Berry‐Kravis +14 more

Transdiagnostic links of reward processing in obsessive-compulsive disorder and depression

Journal of Affective Disorders(2025)10.1016/j.jad.2025.119886

N/A

0.208DataRank · unranked

3 citations

Matti Cervin, Jessica Cheng, Jasmine Arriaga, Vanessa Zavala Cruz, Dayan Berrones +92 more

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations

medRxiv(2025)10.1101/2024.12.27.24319460

N/A

0.208DataRank · unranked

3 citations

Seulgi Jung, F. Kyle Satterstrom, Jack Fu, Tess Levy, Laura G Sloofman +49 more

Persistent Tic Disorders Are Associated With 17q12 Duplications

Research Square(2025)10.21203/rs.3.rs-7031850/v1

N/A

0.165DataRank · unranked

2 citations

Sheng Wang, Tyne W. Miller‐Fleming, Dongmei Yu, Apostolia Topaloudi, Elles de Schipper +23 more

Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/581124

N/A

0.165DataRank · unranked

2 citations

Michael S. Breen, Chris Chatzinakos, Jakob Hartmann, Torsten Klengel, Ana C. da Silva Almeida +35 more

Regulation of cell distancing in peri-plaque glial nets by Plexin-B1 affects glial activation and amyloid compaction in Alzheimer’s disease

Research Square(2021)10.21203/rs.3.rs-967160/v1

N/A

0.115DataRank · unranked

1 citations

Yong Huang, Minghui Wang, Shalaka Wahane, Mitzy Ríos de Anda, L. W HO +9 more

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome

medRxiv(2024)10.1101/2024.01.29.24301949

N/A

0.104DataRank · unranked

1 citations

Laura G Sloofman, Tess Levy, Hannah E. Walker, Gauri Ganesh, Miguel Rodríguez de los Santos +6 more

Predictive validity of the Obsessive-Compulsive Inventory-4 and Florida Obsessive-Compulsive Inventory-II severity scale

Journal of Psychiatric Research(2025)10.1016/j.jpsychires.2025.12.011

N/A

0DataRank · unranked

1 citations

Ryan J. McCarty, Maya Zehavi, Mahnoor Ahmad, Vanessa Zavala Cruz, Dayan Berrones +94 more

Analysis of Genetically Regulated Gene Expression Identifies a Trauma Type Specific PTSD Gene, SNRNP35

SSRN Electronic Journal(2019)10.2139/ssrn.3353219

N/A

0DataRank · unranked

0 citations

Michael S. Breen, Chris Chatzinakos, Jakob Hartmann, Torsten Klengel, Ana C. da Silva Almeida +42 more

Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats

Molecular Autism(2020)10.1186/s13229-020-00393-8

N/A

0DataRank · unranked

46 citations

Neha U. Keshav, Dara L. Dickstein, Bridget Wicinski, William G.M. Janssen, Liam L. Hiester +8 more

Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome

Autism Research(2020)10.1002/aur.2299

N/A

0DataRank · unranked

27 citations

Alan Weinberg, Jonathan Templin, Cristan Farmer, Alison Durkin, Jordana Weissman +12 more

Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.03.003

N/A

0DataRank · unranked

4 citations

Chen Wang, Krzysztof Kiryluk, Joseph D. Buxbaum, Iuliana Ionita‐Laza, Danqing Xu

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.01.014902

N/A

0DataRank · unranked

7 citations

Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa +23 more

Shifted Phase of EEG Cross-Frequency Coupling in Individuals with Phelan-McDermid Syndrome

(2020)10.21203/rs.3.rs-37777/v1

N/A

0DataRank · unranked

0 citations

Elizabeth Berry‐Kravis, Joseph D. Buxbaum, Lauren E. Ethridge, Rajna Filip‐Dhima, Jennifer H. Foss‐Feig +13 more

Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats

Research Square(2020)10.21203/rs.2.20698/v1

N/A

0DataRank · unranked

0 citations

Neha U. Keshav, Dara L. Dickstein, Bridget Wicinski, William G.M. Janssen, Liam L. Hiester +5 more

Shifted Phase of EEG Cross-Frequency Coupling in Individuals with Phelan-McDermid Syndrome

(2020)10.21203/rs.3.rs-37777/v2

N/A

0DataRank · unranked

0 citations

Elizabeth Berry‐Kravis, Joseph D. Buxbaum, Lauren E. Ethridge, Rajna Filip‐Dhima, Jennifer H. Foss‐Feig +13 more

Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats

Research Square(2020)10.21203/rs.2.20698/v2

N/A

0DataRank · unranked

0 citations

Neha U. Keshav, Dara L. Dickstein, Bridget Wicinski, William G.M. Janssen, Liam L. Hiester +8 more

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

UNC Libraries(2020)10.17615/dvnt-qn64

N/A

0DataRank · unranked

0 citations

Dexter Hadley, Mingyao Li, Ingrid Lindquist, Brett S. Abrahams, Edward I. Herman +27 more

Gene expression elucidates functional impact of polygenic risk for schizophrenia

UNC Libraries(2020)10.17615/k6wj-s665

N/A

0DataRank · unranked

0 citations

Edwin C. Oh, Eli A. Stahl, David A. Bennett, Nicholas Katsanis, Tymor Hamamsy +53 more

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

UNC Libraries(2020)10.17615/apzh-eg06

N/A

0DataRank · unranked

0 citations

Julien Bryois, Hoang T. Nguyen, Feng He, August B. Smit, Kasper Lage +18 more

Canonical Inflammasomes Drive IFN-γ to Prime Caspase-11 in Defense against a Cytosol-Invasive Bacterium

UNC Libraries(2020)10.17615/bxtv-v385

N/A

0DataRank · unranked

0 citations

Alan Aderem, Youssef Aachoui, Joseph D. Buxbaum, Jörn Coers, Dat P. Mao +4 more

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study

UCL Discovery (University College London)(2020)10.17615/snbr-qh40

N/A

0DataRank · unranked

0 citations

Kung‐Yee Liang, Per Hoffman, Stefan Herms, Gary Donohoe, Luba Kalaydjieva +94 more

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Journal of Neurodevelopmental Disorders(2021)10.1186/s11689-021-09358-1

N/A

0DataRank · unranked

71 citations

Catherine Gbekie, Paige M. Siper, Shubhika Srivastava, Jeffrey M. Saland, Swathi Sethuram +6 more

Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD

Genes(2021)10.3390/genes12070977

N/A

0DataRank · unranked

28 citations

Christina Layton, Tess Levy, Mikaela A. Rowe, Julia George-Jones, Jessica Zweifach +5 more

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

Molecular Autism(2021)10.1186/s13229-020-00411-9

N/A

0DataRank · unranked

22 citations

Elizabeth Berry‐Kravis, Joseph D. Buxbaum, Lauren E. Ethridge, Rajna Filip‐Dhima, Jennifer H. Foss‐Feig +13 more

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2021)10.1186/s11689-021-09398-7

N/A

0DataRank · unranked

12 citations

Emma Condy, Erin Carmody, Rajna Filip‐Dhima, Kush Kapur, Jonathan A. Bernstein +14 more

Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes

medRxiv(2021)10.1101/2021.07.14.21260405

N/A

0DataRank · unranked

4 citations

James Dalgleish, Justin Lee, Chen Wang, Linxi Liu, Richard Gill +8 more

Maternal psychiatric diagnosis and comorbidities around pregnancy

medRxiv(2021)10.1101/2021.03.01.21252671

N/A

0DataRank · unranked

2 citations

Arad Kodesh, Stephen Z. Levine, Emma Lin, Joseph D. Buxbaum, Veerle Bergink +4 more

Human TLR4 and noncanonical inflammasome differ in their ability to respond to distinct lipid A variants

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.16.472937

N/A

0DataRank · unranked

0 citations

Antonia R Bass, Erin Harberts, Daniel Grubaugh, Joseph D. Buxbaum, Igor E. Brodsky +3 more

Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders

Molecular Therapy(2022)10.1016/j.ymthe.2022.05.014

N/A

0DataRank · unranked

26 citations

Guangping Gao, Elizabeth Berry‐Kravis, Allison M. Bradbury, Carsten G. Bönnemann, Joseph D. Buxbaum +12 more

CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms

Human Molecular Genetics(2022)10.1093/hmg/ddac018

N/A

0DataRank · unranked

24 citations

Bonnie Lerman, Danielle Halpern, Yitzchak Frank, Christina Layton, Jessica Zweifach +4 more

KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.013

N/A

0DataRank · unranked

13 citations

Chen Wang, Linxi Liu, Joseph D. Buxbaum, Zihuai He, Iuliana Ionita‐Laza +1 more

Screening for modulators of autism spectrum disorder using induced human neurons

SLAS DISCOVERY(2022)10.1016/j.slasd.2022.01.004

N/A

0DataRank · unranked

10 citations

Ana Kostić, Pierre Baillargeon, Virneliz Fernández-Vega, Mitzy Ríos de Anda, Kelty Fletcher +5 more

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100145

N/A

0DataRank · unranked

7 citations

Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman +17 more

Comorbidities in autism spectrum disorder and their etiologies

medRxiv(2022)10.1101/2022.03.10.22272202

N/A

0DataRank · unranked

17 citations

Behrang Mahjani, Sven Sandin, A lexander Kolevzon, Joseph D. Buxbaum, Abraham Reichenberg +2 more

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

medRxiv(2022)10.1101/2022.07.06.22277334

N/A

0DataRank · unranked

0 citations

Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman +10 more

Updated consensus guidelines on the management of Phelan–McDermid syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63312

N/A

0DataRank · unranked

49 citations

Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Soorya, Audrey Thurm +40 more

Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice

Brain Behavior and Immunity(2023)10.1016/j.bbi.2023.08.020

N/A

0DataRank · unranked

44 citations

Nicholas L. Mervosh, Ana N. Strat, Tanner J. Euston, Gillian Zipursky, Rebecca M. Pollak +13 more

Maternal rheumatoid arthritis and risk of autism in the offspring

Psychological Medicine(2023)10.1017/s0033291723000855

N/A

0DataRank · unranked

11 citations

Mattias Norrbäck, Stephen Z. Levine, Natalia V. Rivera, Joseph D. Buxbaum, Hailin Zhu +5 more

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09541-0

N/A

0DataRank · unranked

7 citations

Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip‐Dhima +13 more

KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.003

N/A

0DataRank · unranked

4 citations

Qi Wang, Chen Wang, Joseph D. Buxbaum, Iuliana Ionita‐Laza, Yi Yang

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop

Therapeutic Advances in Rare Disease(2024)10.1177/26330040241273464

N/A

0DataRank · unranked

2 citations

Geraldine Bliss, Joseph D. Buxbaum, Jordan S. Farrell, April R. Levin, Siddharth Srivastava +4 more

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome

Translational Psychiatry(2024)10.1038/s41398-024-03005-8

N/A

0DataRank · unranked

3 citations

Laura G Sloofman, Tess Levy, Hannah E. Walker, Gauri Ganesh, Miguel Rodríguez de los Santos +6 more

Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.012

N/A

0DataRank · unranked

1 citations

Fan Wang, Richard Border, Joseph D. Buxbaum, Noah Zaitlen, Iuliana Ionita‐Laza +1 more

Expanding GABAergic Neuronal Diversity in PSC-Derived Disease Models

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.12.03.626438

N/A

0DataRank · unranked

2 citations

Linda L. Boshans, Yiran Tao, Bohan Zhu, Junglong Li, Xindi Li +14 more

Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63872

N/A

0DataRank · unranked

0 citations

Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip‐Dhima, Aisling Quinlan +17 more

Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder

Nature Genetics(2025)10.1038/s41588-025-02189-z

N/A

0DataRank · unranked

50 citations

Zachary F. Gerring, Marco Galimberti, Dongmei Yu, Matthew Halvorsen, Abdel Abdellaoui +95 more

Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts

SSRN Electronic Journal(2019)10.2139/ssrn.3473465

N/A

0DataRank · unranked

0 citations

Chris Chatzinakos, Michael S. Breen, Jakob Hartmann, Torsten Klengel, Ana C. da Silva Almeida +42 more

POU3F2 regulates canonical Wnt signalling via SOX13 and ADNP to expand the neural progenitor population

Brain(2025)10.1093/brain/awaf221

N/A

0DataRank · unranked

3 citations

Lilia B Sattler, Aimee J. Aylward, Olivia Pembridge, Bella Kim, Christina Muratore +9 more

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33036

N/A

0DataRank · unranked

0 citations

Morgan N Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin +17 more

Joseph D. Buxbaum

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