Patrick F. Sullivan

University of North Carolina at Chapel Hill

Also affiliated with Karolinska Institutet

Biochemistry, Genetics and Molecular BiologyPsychology

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

26.8Author DataRank

Indexed papers

14in 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 14 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.

Analysis of protein-coding genetic variation in 60,706 humans

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 more

Papers

Driven by 134 papers — median percentile 64. Top paper: “Analysis of protein-coding genetic variation in 60,706 humans”.

Analysis of protein-coding genetic variation in 60,706 humans

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 more

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Evidence that duplications of 22q11.2 protect against schizophrenia

Molecular Psychiatry(2013)10.1038/mp.2013.156

N/A

5.8DataRank · unranked

188 citations

James T.R. Walters, J T R Walters, K D Chambert, Dragan M. Švrakić, J Szatkiewicz +53 more

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Nature Communications(2020)10.1038/s41467-019-12438-5

N/A

5.6DataRank · unranked

143 citations

James Zou, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier +174 more

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nature Communications(2020)10.1038/s41467-019-10717-9

N/A

5.2DataRank · unranked

191 citations

Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans +181 more

The effect of LRRK2 loss-of-function variants in humans

Nature Medicine(2020)10.1038/s41591-020-0893-5

N/A

4.9DataRank · unranked

114 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric V. Minikel, Julia K. Goodrich +214 more

Meta-Analysis of Genome-Wide Scans Provides Evidence for Sex- and Site-Specific Regulation of Bone Mass

Journal of Bone and Mineral Research(2007)10.1359/jbmr.060806

N/A

4.5DataRank · unranked

168 citations

Mandy Y Ng, Pak C. Sham, Elias Zintzaras, Saskia P. Hagenaars, Hong-Wen Deng +31 more

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

Nature Neuroscience(2016)10.1038/nn.4404

N/A

3.3DataRank · unranked

113 citations

Giulio Genovese, Daniel P. Howrigan, Andrea Byrnes, Mitja I Kurki, Seyedeh M. Zekavat +31 more

Evolutionary constraint and innovation across hundreds of placental mammals

Science(2023)10.1126/science.abn3943

Top 7%

3.0DataRank

Top 7%271 citations

Irene M. Kaplow, Diane P. Genereux, Michael X. Dong, Graham M. Hughes, Xue Li +78 more

Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns

Nature Communications(2019)10.1038/s41467-019-10461-0

N/A

2.8DataRank · unranked

151 citations

Gökçen Eraslan, Christian M. Page, Jari Lahti, Marius Lahti-Pulkkinen, Esa Hämäläinen +233 more

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.04.010

N/A

1.6DataRank · unranked

76 citations

Maxim B. Freidin, Linda Broer, Berthe C. Oosterloo, Shuyang Yao, Yitian Zhou +65 more

Genetic comorbidity between major depression and cardio‐metabolic traits, stratified by age at onset of major depression

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2020)10.1002/ajmg.b.32807

N/A

1.6DataRank · unranked

65 citations

Jonathan R. I. Coleman, Shing Wan Choi, Héléna A. Gaspar, Mark J. Adams, David M. Howard +43 more

The mutational constraint spectrum quantified from variation in 141,456 humans

Nature(2020)10.1038/s41586-020-2308-7

N/A

1.4DataRank · unranked

9958 citations

Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang +187 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

Psychiatric disorders and subsequent risk of cardiovascular disease: a longitudinal matched cohort study across three countries

EClinicalMedicine(2023)10.1016/j.eclinm.2023.102063

Top 16%

1.3DataRank

Top 16%62 citations

Dorte Helenius Mikkelsen, Laura Birgit Luitva, Huan Song, Silva Kasela, Thor Aspelund +13 more

The Eating Disorders Genetics Initiative (EDGI): study protocol

BMC Psychiatry(2021)10.1186/s12888-021-03212-3

Top 17%

1.2DataRank

Top 17%74 citations

Laura M. Thornton, Richard Parker, Hannah Kennedy, Jessica H. Baker, Casey M. MacDermod +13 more

Rare chromosomal deletions and duplications increase risk of schizophrenia

Nature(2008)10.1038/nature07239

N/A

1.1DataRank · unranked

1503 citations

Michael C O'Donovan, Catherine H. Wilson, Manfred Kayser, Pentti J. Tienari, Aiden Corvin +72 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

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

Microduplications of 16p11.2 are associated with schizophrenia

Nature Genetics(2009)10.1038/ng.474

N/A

0.990DataRank · unranked

733 citations

Kenneth S. Kendler, Manfred Kayser, Anjene M Addington, Jon McClellan, Milica Pejović-Milovančević +66 more

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/561472

N/A

0.977DataRank · unranked

17 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric Vallabh Minikel, Konrad J. Karczewski +35 more

Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways

Nature Communications(2018)10.1038/s41467-018-03819-3

N/A

0.974DataRank · unranked

660 citations

Abdel Abdellaoui, Masoud Shirali, Jane Hvarregaard Christensen, Riccardo E. Marioni, Gail Davies +40 more

Epidemiological overview of major depressive disorder in Scandinavia using nationwide registers

The Lancet Regional Health - Europe(2023)10.1016/j.lanepe.2023.100621

Top 21%

0.941DataRank

Top 21%32 citations

Joeri Meijsen, Marit Haram, Kaarina Kowalec, Arvid Harder, Ying Xiong +18 more

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

Nature Neuroscience(2016)10.1038/nn.4402

N/A

0.931DataRank · unranked

495 citations

Menachem Fromer, Eli A. Stahl, Douglas M. Ruderfer, Kimberly D. Chambert, Mikael Landén +8 more

The PsychENCODE project

Nature Neuroscience(2015)10.1038/nn.4156

N/A

0.927DataRank · unranked

483 citations

Chunyu Liu, James A. Knowles, Flora M. Vaccarino, Philip L. De Jager, Gregory E. Crawford +87 more

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Nature Genetics(2012)10.1038/ng.2283

N/A

0.868DataRank · unranked

326 citations

Nicholas Mancuso, Paul J. McLaren, Kiran Garimella, Noah Zaitlen, Alexandra P. Lewis +23 more

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

Nature Genetics(2017)10.1038/ng.3903

N/A

0.826DataRank · unranked

246 citations

David M. Hougaard, Mandy Johnstone, Nicholas Bass, Jaana Suvisaari, Minna Torniainen +21 more

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

Nature Neuroscience(2019)10.1038/s41593-019-0527-8

N/A

0.815DataRank · unranked

228 citations

F. Kyle Satterstrom, Tarjinder Singh, Emilie M. Wigdor, Jurgen Del‐Favero, Ditte Demontis +17 more

Integrating gene annotation with orthology inference at scale

Science(2023)10.1126/science.abn3107

N/A

0.804DataRank · unranked

212 citations

Chetan Munegowda, Ekaterina Osipova, David Jebb, Virag Sharma, Moritz Blumer +91 more

Transcript expression-aware annotation improves rare variant interpretation

Nature(2020)10.1038/s41586-020-2329-2

N/A

0.796DataRank · unranked

201 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +177 more

Evaluating drug targets through human loss-of-function genetic variation

Nature(2020)10.1038/s41586-020-2267-z

N/A

0.779DataRank · unranked

179 citations

Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel R. Rhodes +150 more

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

The American Journal of Human Genetics(2018)10.1016/j.ajhg.2018.05.002

N/A

0.713DataRank · unranked

115 citations

F. Kyle Satterstrom, Seyedeh M. Zekavat, Indraniel Das, Mitja I Kurki, Claire Churchhouse +45 more

Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues

The American Journal of Human Genetics(2017)10.1016/j.ajhg.2017.03.002

N/A

0.712DataRank · unranked

114 citations

Hilary K. Finucane, Alexander Gusev, Gaurav Bhatia, Steven Gazal, Luke O’Connor +6 more

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Molecular Psychiatry(2021)10.1038/s41380-020-01006-9

N/A

0.686DataRank · unranked

22 citations

Fernando S. Goes, Adam E. Locke, Duncan S. Palmer, Weiqing Wang, Sarah Cohen‐Woods +71 more

Building an International Consortium for Tracking Coronavirus Health Status

medRxiv(2020)10.1101/2020.04.02.20051284

N/A

0.661DataRank · unranked

13 citations

Feng Zhang, Xihong Lin, Gary King, Ophir Shalem, Smadar Shilo +52 more

Schizophrenia genomics: genetic complexity and functional insights

Nature Reviews Neuroscience(2024)10.1038/s41583-024-00837-7

N/A

0.601DataRank · unranked

54 citations

Shuyang Yao, Jens Hjerling-Leffler, Patrick F. Sullivan

Distinct genomic signatures and modifiable risk factors underly the comorbidity between major depressive disorder and cardiovascular disease

medRxiv(2023)10.1101/2023.09.01.23294931

N/A

0.600DataRank · unranked

7 citations

Joëlle A. Pasman, Ziyan Ma, Arvid Harder, Shuyang Yao, Nadine Parker +21 more

ASD and ADHD have a similar burden of rare protein-truncating variants

bioRxiv (Cold Spring Harbor Laboratory)(2018)10.1101/277707

N/A

0.434DataRank · unranked

17 citations

Tarjinder Singh, Emilie M. Wigdor, Jurgen Del‐Favero, Ditte Demontis, Christine Stevens +18 more

Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs

Science(2023)10.1126/science.abn5887

N/A

0.406DataRank · unranked

14 citations

Heather J. Huson, Kathleen M. Morrill, Mingshan Wang, Xue Li, Krishnamoorthy Srikanth +90 more

The pivotal role of the X-chromosome in the genetic architecture of the human brain

medRxiv(2023)10.1101/2023.08.30.23294848

Top 51%

0.340DataRank

Top 51%4 citations

Patrick F. Sullivan, Tengfei Li, Bingxin Zhao, Xifeng Wang, Tianyou Luo +10 more

Multi-organ imaging-derived polygenic indexes for brain and body health

medRxiv(2023)10.1101/2023.04.18.23288769

Top 53%

0.321DataRank

Top 53%6 citations

Patrick F. Sullivan, Bingxuan Li, Zirui Fan, Dezheng Ding, Juan Shu +11 more

DeepGWAS: Enhance GWAS Signals for Neuropsychiatric Disorders via Deep Neural Network

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.20.521277

N/A

0.165DataRank · unranked

2 citations

Gang Li, Jiawen Chen, Quan Sun, Weifang Liu, Wyliena Guan +7 more

Deep Sequencing of Three Loci Implicated in Large-Scale Genome-Wide Association Study Smoking Meta-Analyses

UNC Libraries(2020)10.17615/gjtf-3q39

N/A

0DataRank · unranked

0 citations

Daniel E. Adkins, Sri Nerella, William Copeland, Gaurav Kumar, Edwin J. van den Oord +15 more

Runs of Homozygosity Implicate Autozygosity as a Schizophrenia Risk Factor

UNC Libraries(2020)10.17615/emw9-4b41

N/A

0DataRank · unranked

0 citations

Matthew C. Keller, Daniel P. Howrigan, Ben Neale, Stephan Ripke, Patrick F. Sullivan +5 more

CNS-restricted Transduction and CRISPR/Cas9-mediated Gene Deletion with an Engineered AAV Vector

UNC Libraries(2020)10.17615/5bym-5c25

N/A

0DataRank · unranked

0 citations

Travis Corriher, Kensuke Sakamoto, Lavanya Rao, Aravind Asokan, Dan Wang +3 more

A recessive genetic model and runs of homozygosity in major depressive disorder

UNC Libraries(2020)10.17615/0cc1-3g32

N/A

0DataRank · unranked

0 citations

Robert A. Power, Naomi R. Wray, Abdel Abdellaoui, Gerome Breen, Patrick F. Sullivan +2 more

Genome-wide Association Study of Alcohol Dependence

UNC Libraries(2020)10.17615/8dr3-3r71

N/A

0DataRank · unranked

0 citations

Anbarasu Lourdusamy, Nico Dragano, Fernando Leonardi‐Essmann, Norbert Scherbaum, Markus M. Nöthen +24 more

The Genetic Structure of the Swedish Population

UNC Libraries(2020)10.17615/fvdj-e024

Top 100%

0DataRank

Top 100%0 citations

Jianjun Liu, Per Hall, Pamela Sklar, Samuli Ripatti, Henrik Grönberg +18 more

Population structure, migration and diversifying selection in the Netherlands

UNC Libraries(2020)10.17615/pz7n-7f05

N/A

0DataRank · unranked

0 citations

Andrëw G. Brööks, Gonneke Willemsen, van Beijsterveldt, Toos, Paul Scheet, Michel G. Nivard +12 more

HUGIn: Hi-C Unifying Genomic Interrogator

UNC Libraries(2020)10.17615/mkb6-1p15

N/A

0DataRank · unranked

0 citations

Karen L. Mohlke, Xu Zheng, Bing Ren, Ming Hu, Joshua S. Martin +3 more

All SNPs Are Not Created Equal: Genome-Wide Association Studies Reveal a Consistent Pattern of Enrichment among Functionally Annotated SNPs

UNC Libraries(2020)10.17615/e1kj-ax40

N/A

0DataRank · unranked

0 citations

Ole A. Andreassen, Wesley K. Thompson, Michael C O'Donovan, J. Cooper Roddey, Patrick F. Sullivan +7 more

A New Method for Detecting Associations with Rare Copy-Number Variants

UNC Libraries(2020)10.17615/xd5h-xj51

N/A

0DataRank · unranked

0 citations

Jin Szatkiewicz, Patrik K. E. Magnusson, Patrick F. Sullivan, Jung‐Ying Tzeng

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

UNC Libraries(2020)10.17615/3mxa-f008

N/A

0DataRank · unranked

0 citations

Naomi R. Wray, Peter M. Visscher, Stephan Ripke, Teresa R DeCandia, Matthew C. Keller +4 more

Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood

UNC Libraries(2020)10.17615/y8r7-8g62

N/A

0DataRank · unranked

0 citations

Youfang Liu, Judy L. Silberg, Tyson H. Brown, Edwin J. C. G. van den Oord, Martin A. Kennedy +14 more

Exome sequencing and the genetic basis of complex traits

UNC Libraries(2020)10.17615/2gxf-xr79

N/A

0DataRank · unranked

0 citations

Kiran Garimella, Benjamin M. Neale, Adam Kieżun, Shaun Purcell, Nathan O. Stitziel +14 more

Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach

UNC Libraries(2020)10.17615/13td-yy64

N/A

0DataRank · unranked

0 citations

Brian Kidd, Ben Readhead, Pamela Sklar, Stuart A. Scott, Shaun Purcell +9 more

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

UNC Libraries(2020)10.17615/vqrj-3e30

N/A

0DataRank · unranked

0 citations

Patrick F. Sullivan, Chongzhi Zang, David Collier, Hailiang Huang, Eli A. Stahl +24 more

Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium

UNC Libraries(2020)10.17615/k3vg-tb84

N/A

0DataRank · unranked

0 citations

Stacy Steinberg, Johannes H. Smit, Tim B. Bigdeli, Kāri Stefánsson, Stefan Kloiber +71 more

Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation

UNC Libraries(2020)10.17615/2eqm-rz22

N/A

0DataRank · unranked

0 citations

Patrick F. Sullivan, Waibo Wang, Jin Szatkiewicz, Wei Sun, Wei Wang

The EPDS-Lifetime: assessment of lifetime prevalence and risk factors for perinatal depression in a large cohort of depressed women

UNC Libraries(2020)10.17615/hc9f-m970

N/A

0DataRank · unranked

0 citations

Patrick F. Sullivan, Brenda W.J.H. Penninx, Lynn Boschloo, Ian Jones, Samantha Meltzer‐Brody

An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype

UNC Libraries(2020)10.17615/jcdv-pt45

N/A

0DataRank · unranked

0 citations

Wei Zhao, Cathryn M. Lewis, Thomas G. Schulze, Philip L. De Jager, Markus M. Nöthen +95 more

A quality control algorithm for filtering SNPs in genome-wide association studies

UNC Libraries(2020)10.17615/fahn-1p78

N/A

0DataRank · unranked

0 citations

Patrick F. Sullivan, Jung Ying Tzeng, Monnat Pongpanich

IsoDOT Detects Differential RNA-Isoform Expression/Usage With Respect to a Categorical or Continuous Covariate With High Sensitivity and Specificity

UNC Libraries(2020)10.17615/ar02-y596

N/A

0DataRank · unranked

0 citations

Vasyl Zhabotynsky, Yufeng Liu, Yichao Wu, Hua Zhou, Darla R. Miller +12 more

Transcriptome-wide association analysis of brain structures yields insights into pleiotropy with complex neuropsychiatric traits

Nature Communications(2021)10.1038/s41467-021-23130-y

N/A

0DataRank · unranked

91 citations

Yue Shan, Yue Yang, Zhaolong Yu, Tengfei Li, Xifeng Wang +7 more

Robust Hi-C Maps of Enhancer-Promoter Interactions Reveal the Function of Non-coding Genome in Neural Development and Diseases

UNC Libraries(2021)10.17615/3c0k-fq66

N/A

0DataRank · unranked

6 citations

Paola Giusti‐Rodríguez, Reiko Kawaguchi, Patrick F. Sullivan, S. Zhang, Jianming Cui +17 more

Genome-wide annotation of gene regulatory elements linked to cell fitness

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.08.434470

N/A

0DataRank · unranked

14 citations

Tyler S. Klann, Alejandro Barrera, Adarsh R. Ettyreddy, Siyan Liu, Ryan Rickels +10 more

Genetic and Phenotypic Stability of Measures of Neuroticism Over 22 Years

UNC Libraries(2021)10.17615/51py-pr74

N/A

0DataRank · unranked

0 citations

Patrick F. Sullivan, Nicholas G. Martin, Peter M. Visscher, Naomi R. Wray, Andrew J. Birley

The Swedish Twin Registry in the Third Millennium: An Update

UNC Libraries(2021)10.17615/e2ws-ye21

Top 100%

0DataRank

Top 100%0 citations

Eva Carlström, Nancy L. Pedersen, Margaret Gatz, Lars Klareskog, Juni Palmgren +9 more

The Anorexia Nervosa Genetics Initiative (ANGI): Overview and methods

UNC Libraries(2021)10.17615/8vy9-q427

N/A

0DataRank · unranked

0 citations

J. Grove, J.T. Larsen, L.J. Horwood, K.M. Kirk, N.G. Martin +41 more

Familial Clustering of Major Depression and Anxiety Disorders in Australian and Dutch Twins and Siblings

UNC Libraries(2021)10.17615/1s18-ya61

N/A

0DataRank · unranked

0 citations

Richard van Dyck, Andrew J. Birley, Nathan A. Gillespie, J. Gavin Andrews, Patrick F. Sullivan +8 more

Correction: Genome-Wide Association Study Implicates Chromosome 9q21.31 as a Susceptibility Locus for Asthma in Mexican Children

UNC Libraries(2021)10.17615/p98m-1x84

N/A

0DataRank · unranked

0 citations

Celeste Eng, Rocío Chapela, Stephanie J. London, Blanca E. Del-Río-Navarro, Huiling Li +13 more

Acute COVID-19 severity and mental health morbidity trajectories in patient populations of six nations: an observational study

The Lancet Public Health(2022)10.1016/s2468-2667(22)00042-1

N/A

0DataRank · unranked

169 citations

Anikó Lovik, Anna Bára Unnarsdóttir, Daniel L. McCartney, Helga Ask, Kadri Kõiv +44 more

THUNDER: A reference-free deconvolution method to infer cell type proportions from bulk Hi-C data

PLoS Genetics(2022)10.1371/journal.pgen.1010102

N/A

0DataRank · unranked

14 citations

Ruth Huh, Zoey Hou, Cheynna Crowley, Jia Wen, Yin Shen +5 more

Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions

medRxiv(2022)10.1101/2021.12.24.21268385

N/A

0DataRank · unranked

4 citations

Maxwell A. Sherman, Giulio Genovese, Thomas G. Gilgenast, Prashanth Rajarajan, Erin Flaherty +14 more

THUNDER: A reference-free deconvolution method to infer cell type proportions from bulk Hi-C data

UNC Libraries(2022)10.17615/aght-a369

N/A

0DataRank · unranked

0 citations

Patrick F. Sullivan, Ruth Huh, Jia Wen, Paola Giusti‐Rodríguez, Ming Hu +5 more

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

Science(2023)10.1126/science.abn2937

N/A

0DataRank · unranked

121 citations

Jennifer R. S. Meadows, Steven Gazal, BaDoi N. Phan, Xue Li, Diane P. Genereux +70 more

Characteristics of Mpox Vaccine Recipients Among a Sample of Men Who Have Sex With Men With Presumed Exposure to Mpox

Sexually Transmitted Diseases(2023)10.1097/olq.0000000000001800

N/A

0DataRank · unranked

7 citations

Patrick F. Sullivan, Tom Carpino, Travis Sanchez, Kaitlyn Atkins, Kevin P. Delaney +7 more

DeepGWAS: Enhance GWAS Signals for Neuropsychiatric Disorders via Deep Neural Network

Research Square(2023)10.21203/rs.3.rs-2399024/v1

N/A

0DataRank · unranked

9 citations

Jia Wen, Gang Li, Jiawen Chen, Quan Sun, Weifang Liu +6 more

Meta-analysis of epigenetic aging in schizophrenia reveals multifaceted relationships with age, sex, illness duration, and polygenic risk

Clinical Epigenetics(2024)10.1186/s13148-024-01660-8

N/A

0DataRank · unranked

19 citations

Loes M. Olde Loohuis, Jerry Guintivano, Eilís Hannon, Emma Dempster, David St Clair +8 more

Whole genome sequencing study of identical twins discordant for psychosis

Translational Psychiatry(2024)10.1038/s41398-024-02982-0

N/A

0DataRank · unranked

3 citations

Niamh Ryan, Anna M. Hedman, Tyrone D. Cannon, Patrick F. Sullivan, Michael Gill +5 more

Machine learning methods for predicting guide RNA effects in CRISPR epigenome editing experiments

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.04.18.590188

N/A

0DataRank · unranked

5 citations

Tianyou Luo, Alejandro Barrera, Lexi R. Bounds, Tyler S. Klann, Maria ter Weele +7 more

Soluble IL-2R contributes to impaired muscle cell mitochondrial respiration in fatigued individuals with post-acute sequelae of COVID

medRxiv(2024)10.1101/2024.08.14.24311980

N/A

0DataRank · unranked

1 citations

Jai K. Joshi, Kate Kosmac, Douglas E. Long, Ashley Montgomery-Yates, Anna G. Kalema +14 more

Mapping rare protein-coding variants on multi-organ imaging traits

medRxiv(2024)10.1101/2024.11.16.24317443

N/A

0DataRank · unranked

1 citations

Jie Chen, Zirui Fan, Julio A. Chirinos, Jason L. Stein, Patrick F. Sullivan +18 more

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

UNC Libraries(2024)10.17615/4nb8-at41

N/A

0DataRank · unranked

0 citations

David Curtis, Jennifer Sambrook, Robin Murray, David St Clair, Trevor Cole +54 more

Dna methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia

UNC Libraries(2024)10.17615/n3hz-p550

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James H. MacCabe, Sebastian Therman, Aiden Corvin, Diego Quattrone, Eilís Hannon +41 more

CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder

UNC Libraries(2024)10.17615/jxgd-8293

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Shah H.R, Montgomery K.S, Stefano Marenco, Sieberts S.K, Patrick F. Sullivan +25 more

Meta-analysis of epigenetic aging in schizophrenia reveals multifaceted relationships with age, sex, illness duration, and polygenic risk

UNC Libraries(2024)10.17615/mvq1-mx66

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Jonathan Mill, Andrew McQuillin, Nicholas Bass, David St Clair, Emma Dempster +8 more

Whole genome sequencing study of identical twins discordant for psychosis

UNC Libraries(2024)10.17615/zp8j-r241

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Tyrone D. Cannon, Niamh Ryan, Patrick F. Sullivan, Cathal Ormond, Michael Gill +5 more

Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders

Cell(2025)10.1016/j.cell.2024.12.022

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0DataRank · unranked

39 citations

Jessica C. McAfee, Jiseok Lee, Alejandro Gómez, Austin T Ledford, Declan Clarke +7 more

The Psychiatric Genomics Consortium: discoveries and directions

The Lancet Psychiatry(2025)10.1016/s2215-0366(25)00124-5

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26 citations

Cynthia M. Bulik, Dawit Abebe, Ole A. Andreassen, Elizabeth G. Atkinson, Karmel W. Choi +34 more

Genome-wide study of somatic symptom and related disorders identifies novel genomic loci and map genetic architecture

medRxiv(2025)10.1101/2025.07.16.25331639

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0DataRank · unranked

1 citations

Piotr Jahołkowski, Alexey Shadrin, Elise Koch, Laura Birgit Luitva, Dorte Helenius Mikkelsen +27 more

Mapping rare protein-coding variants on multi-organ imaging traits

Nature Communications(2025)10.1038/s41467-025-67431-y

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0DataRank · unranked

0 citations

Jie Chen, Zirui Fan, Julio A. Chirinos, Jason L. Stein, Patrick F. Sullivan +18 more

Distinct biological signature and modifiable risk factors underlie the comorbidity between major depressive disorder and cardiovascular disease

Nature Cardiovascular Research(2024)10.1038/s44161-024-00488-y

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48 citations

Joëlle A. Pasman, Ziyan Ma, Arvid Harder, Shuyang Yao, Nadine Parker +21 more

Functional Annotation of the Major Histocompatibility Complex Locus

bioRxiv (Cold Spring Harbor Laboratory)(2026)10.64898/2026.02.01.703124

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0 citations

Alejandro Barrera, Maria ter Weele, Siyan Liu, Euphy Wu, Shengyu Li +22 more

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

UNC Libraries(2020)10.17615/haws-ma91

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0DataRank · unranked

0 citations

Nicholas Mancuso, Paul J. McLaren, Kiran Garimella, Noah Zaitlen, Alexandra P. Lewis +19 more

CNValidatron: accurate and efficient validation of PennCNV calls using computer vision

BMC Bioinformatics(2026)10.1186/s12859-026-06375-6

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0 citations

G. Bragi Walters, Gudbjorn F. Jonsson, Jesper R. Gådin, Patrick F. Sullivan, Edoardo Fiorillo +4 more

Robust Hi-C Maps of Enhancer-Promoter Interactions Reveal the Function of Non-coding Genome in Neural Development and Diseases

Molecular Cell(2020)10.1016/j.molcel.2020.06.007

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0DataRank · unranked

193 citations

Xiaoxiao Liu, Wei‐Kai Huang, Paola Giusti‐Rodríguez, Jian Cui, Shanshan Zhang +17 more

Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia

Nature Communications(2020)10.1038/s41467-020-15707-w

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0DataRank · unranked

91 citations

Ruth Huh, Nikolay Oskolkov, Jia Wen, Sergiu Netotea, Paola Giusti‐Rodríguez +15 more

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

Nature Communications(2020)10.1038/s41467-020-19637-5

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34 citations

Melanie E. Garrett, Maria Kousi, Ramona M. Rodriguiz, Sungjin Moon, Yushi Bai +14 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

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23 citations

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

Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis

PLoS Computational Biology(2020)10.1371/journal.pcbi.1007797

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7 citations

Wenbin Lu, Rachel Marceau West, Qi-You Yu, Chuhsing Kate Hsiao, Tzu-Hung Hsiao +7 more

Cross-Disorder Genomewide Analysis of Schizophrenia, Bipolar Disorder, and Depression

UNC Libraries(2020)10.17615/dyrp-g294

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4 citations

Jie Huang, Jeffrey A. Lieberman, Jordan W. Smoller, Patrick F. Sullivan, Steven P. Hamilton +7 more

Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues

UNC Libraries(2020)10.17615/0fks-zm73

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4 citations

Patrick F. Sullivan, Alkes L. Price, Alexander Gusev, Luke O'Connor, Benjamin M. Neale +6 more

Robust kernel association testing (RobKAT)

Genetic Epidemiology(2020)10.1002/gepi.22280

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2 citations

Arnab Maity, Robert H. Yolken, Patrick F. Sullivan, Jung‐Ying Tzeng, Kara Martinez

Meta-Analysis of Genome-wide Association Studies with Overlapping Subjects

UNC Libraries(2020)10.17615/xknc-f396

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2 citations

Patrick F. Sullivan, D. Y. Lin

Quantifying prion disease penetrance using large population control cohorts

UNC Libraries(2020)10.17615/m8r0-g416

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0DataRank · unranked

1 citations

Hidehiro Mizusawa, Pamela Sklar, Nobuo Sanjo, Miguel Calero, Theo F. J. Kraus +58 more

Assessment of gene expression in peripheral blood using RNAseq before and after weight restoration in anorexia nervosa

UNC Libraries(2020)10.17615/325f-fw82

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1 citations

Robert M. Hamer, David S. Pisetsky, James J. Crowley, Patrick F. Sullivan, Kimberly A. Brownley +3 more

Transcriptome Atlases of Mouse Brain Reveals Differential Expression Across Brain Regions and Genetic Backgrounds

UNC Libraries(2020)10.17615/p2ct-6g80

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1 citations

James J. Crowley, Fei Zou, Jeremy Wang, Ryan J Buus, Fernando Pardo‐Manuel de Villena +8 more

Associations of glutamate decarboxylase genes with initial sensitivity and age-at-onset of alcohol dependence in the Irish Affected Sib Pair Study of Alcohol Dependence

UNC Libraries(2020)10.17615/gypv-7p95

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1 citations

David Goldman, Colin A. Hodgkinson, Gursharan Kalsi, Carol A. Prescott, Patrick F. Sullivan +8 more

zCall: a rare variant caller for array-based genotyping

UNC Libraries(2020)10.17615/2r6r-p404

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0 citations

George Grant, Jared Maguire, Shaun Purcell, Jennifer L. Moran, Christine Stevens +12 more

Birth outcomes in women with eating disorders in the Norwegian Mother and Child cohort study (MoBa)

UNC Libraries(2020)10.17615/tw38-8d40

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Cynthia M. Bulik, Ted Reichborn‐Kjennerud, Kari Kveim Lie, Anna Maria Siega‐Riz, Cecilie Knoph Berg +4 more

Genome-wide Association Study of Smoking Initiation and Current Smoking

UNC Libraries(2020)10.17615/fvya-7r25

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0 citations

Henning Tiemeier, Jaakko Kaprio, Nicholas G. Martin, Albert Hofman, Katherine I. Morley +23 more

Gene expression elucidates functional impact of polygenic risk for schizophrenia

UNC Libraries(2020)10.17615/k6wj-s665

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0 citations

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

Utilizing Twins as Controls for Non-Twin Case-Materials in Genome Wide Association Studies

UNC Libraries(2020)10.17615/53j5-rc30

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Erik Ingelsson, Veikko Salomaa, Patrick F. Sullivan, Andrea Ganna, Jaakko Kaprio +5 more

Genomes of the Mouse Collaborative Cross

UNC Libraries(2020)10.17615/6ge0-xy56

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Darla R. Miller, Timothy A. Bell, John Shorter, Martin T. Ferris, Vishal Sarsani +13 more

Haplotype-Based Pharmacogenetic Analysis for Longitudinal Quantitative Traits in the Presence of Dropout

UNC Libraries(2020)10.17615/h322-kg95

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Mark W. Farmen, Youfang Liu, Wenbin Luu, Patrick F. Sullivan, Jung-Ying Tzengu

The STAGE cohort: A prospective study of tobacco use among Swedish twins

UNC Libraries(2020)10.17615/jf8m-ny66

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Nancy L. Pedersen, Laura M. Thornton, Paul Lichtenstein, Cynthia M. Bulik, Caryn Lerman +2 more

Association of ADH and ALDH Genes With Alcohol Dependence in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD) Sample

UNC Libraries(2020)10.17615/fz9q-fc55

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Patrick F. Sullivan, Brien P. Riley, Diana G. Patterson, Jeffry Alexander, Colin A. Hodgkinson +8 more

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

UNC Libraries(2020)10.17615/apzh-eg06

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

Integrative approaches for large-scale transcriptome-wide association studies

UNC Libraries(2020)10.17615/q98d-fy71

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Marcus Alvarez, Fred A. Wright, Elina Nikkola, Huwenbo Shi, Patrick F. Sullivan +20 more

Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

UNC Libraries(2020)10.17615/8m0s-na92

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John A. McGrath, Pamela Sklar, Gerald Nestadt, David J. Cutler, Paula Wolyniec +25 more

Feeling Bad in More Ways than One: Comorbidity Patterns of Medically Unexplained and Psychiatric Conditions

UNC Libraries(2020)10.17615/wz95-v090

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Dedra Buchwald, Megan Olarte, Patrick F. Sullivan, Ellen A. Schur, Niloofar Afari +2 more

A Multi-Megabase Copy Number Gain Causes Maternal Transmission Ratio Distortion on Mouse Chromosome 2

UNC Libraries(2020)10.17615/ckbe-2z03

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John P. Didion, Elissa J. Chesler, John E. French, Petko M. Petkov, Darla R. Miller +27 more

Twin Analyses of Fatigue

UNC Libraries(2020)10.17615/4gw0-f488

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Patrick F. Sullivan, Dedra Buchwald, Ellen A. Schur, Niloofar Afari, Jack Goldberg

Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression

UNC Libraries(2020)10.17615/9a66-t126

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Bradford B. Worrall, Mark I. McCarthy, Monnat Pongpanich, Michèle M. Sale, Fang‐Chi Hsu +5 more

Nausea and vomiting of pregnancy in women with bulimia nervosa and eating disorders not otherwise specified

UNC Libraries(2020)10.17615/pr1m-b794

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Cynthia M. Bulik, Cecilie Knoph Berg, Leila Torgersen, Robert M. Hamer, Ann Von Holle +2 more

Suggestive linkage on chromosome 2, 8, and 17 for lifetime major depression

UNC Libraries(2020)10.17615/cbx6-e677

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Patrick F. Sullivan, Grant W. Montgomery, Christel M. Middeldorp, Dixie J. Statham, Mireille Den Van Berg +8 more

Gene Expression in Peripheral Blood Leukocytes in Monozygotic Twins Discordant for Chronic Fatigue: No Evidence of a Biomarker

UNC Libraries(2020)10.17615/40je-qh59

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Patrick F. Sullivan, Nancy L. Pedersen, Andreas Jacks, Karin Dahlman‐Wright, Fred A. Wright +2 more

A polygenic burden of rare disruptive mutations in schizophrenia

UNC Libraries(2020)10.17615/carr-e613

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Sarah E. Bergen, Steven A. McCarroll, Eric S. Lander, Stacey B. Gabriel, Giulio Genovese +27 more

Association study of 182 candidate genes in anorexia nervosa

UNC Libraries(2020)10.17615/xkqq-bt95

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James E. Mitchell, Allan S. Kaplan, Wade H. Berrettini, Andrew W. Bergen, Patrick F. Sullivan +22 more

One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins

UNC Libraries(2020)10.17615/drv5-1c66

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Patrik K. E. Magnusson, Lars Feuk, Setia Pramana, Donghwan Lee, Patrick F. Sullivan +4 more

Quantitative Analysis of Focused A-To-I RNA Editing Sites by Ultra-High-Throughput Sequencing in Psychiatric Disorders

UNC Libraries(2020)10.17615/eyrf-th35

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Craig A. Stockmeier, Gouri Mahajan, George Jurjus, James C. Overholser, Bryan L. Roth +10 more

Clinical phenotypes of perinatal depression and time of symptom onset: analysis of data from an international consortium

UNC Libraries(2020)10.17615/n6e2-gk22

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Samantha Meltzer‐Brody, Brenda W.J.H. Penninx, C. Neill Epperson, Sabine J. Roza, Kevin Wildenhaus +30 more

No Effect of Genome-Wide Copy Number Variation on Measures of Intelligence in a New Zealand Birth Cohort

UNC Libraries(2020)10.17615/yg1m-j508

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David M. Fergusson, Patrick F. Sullivan, Youfang Liu, L. John Horwood, Andrew Bagshaw +1 more

Patrick F. Sullivan

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