Håkon Håkonarson

Also affiliated with University of Pennsylvania

MedicineBiochemistry, Genetics and Molecular Biology

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

4.9Author DataRank

Indexed papers

5in 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 5 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.

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036

Top 5%

4.7DataRank

Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

Papers

Driven by 155 papers — median percentile 17. Top paper: “Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations”.

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

Nature Medicine(2024)10.1038/s41591-024-02796-z

N/A

4.8DataRank · unranked

196 citations

Leah C. Kottyan, Christopher Kachulis, Noura S. Abul‐Husn, Joshua Arias, Gillian M. Belbin +73 more

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036

Top 5%

4.7DataRank

Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual

Genome Biology(2021)10.1186/s13059-020-02207-9

N/A

4.2DataRank · unranked

149 citations

Yadav Wagley, James A. Pippin, Ahmed Elhakeem, Gregory P. Way, Matthew C. Pahl +29 more

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Genetics in Medicine(2023)10.1016/j.gim.2023.100006

N/A

2.6DataRank · unranked

121 citations

Aimee Allworth, Harris T. Bland, Pedro J. Caraballo, Rex L. Chisholm, Ellen Wright Clayton +95 more

A cross-disorder dosage sensitivity map of the human genome

medRxiv(2021)10.1101/2021.01.26.21250098

N/A

2.0DataRank · unranked

54 citations

Joseph Glessner, Eleonora Porcu, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Georgios Kellaris +28 more

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

The Journal of Experimental Medicine(2021)10.1084/jem.20201750

N/A

1.7DataRank · unranked

75 citations

David N. Nguyen, Chun Su, Brian E. Nolan, Amanda V. Albrecht, Suela Xhani +40 more

Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity

Diabetes(2020)10.2337/db20-0070

N/A

1.5DataRank · unranked

57 citations

Yiying Zhang, Cassandra N. Spracklen, Tugce Karaderi, Lam Opal Huang, Jonathan P. Bradfield +95 more

Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies

Addiction Biology(2020)10.1111/adb.12880

N/A

1.4DataRank · unranked

74 citations

Emma C. Johnson, Yi‐Ling Chou, Jonathan R. I. Coleman, Laura M. Thornton, Raymond K. Walters +95 more

Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival

JNCI Journal of the National Cancer Institute(2023)10.1093/jnci/djad183

N/A

1.3DataRank · unranked

27 citations

Zalman Vaksman, Laura E. Egolf, Rebecca S. Kaufman, Perry Evans, Karina L. Conkrite +23 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

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature Communications(2023)10.1038/s41467-023-39539-6

N/A

1.2DataRank · unranked

56 citations

David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian +94 more

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Nature(2011)10.1038/nature10251

N/A

1.2DataRank · unranked

2729 citations

Stephen Sawcer, Garrett Hellenthal, Matti Pirinen, Chris C. A. Spencer, Nikolaos A. Patsopoulos +241 more

Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study

Circulation(2021)10.1161/circulationaha.121.055562

N/A

1.2DataRank · unranked

49 citations

Giovanni Davogustto, Christian M. Shaffer, Carlos G. Vanoye, Reshma R. Desai, Eric Farber‐Eger +46 more

Genetics of varicose veins reveals polygenic architecture and genetic overlap with arterial and venous disease

Nature Cardiovascular Research(2023)10.1038/s44161-022-00196-5

N/A

1.2DataRank · unranked

14 citations

Jennifer E. Huffman, Anurag Verma, Kyle A. Sullivan, Alexis Rodriguez, David Kainer +17 more

Defining the role of common variation in the genomic and biological architecture of adult human height

Nature Genetics(2014)10.1038/ng.3097

N/A

1.1DataRank · unranked

2093 citations

Emilio Rodríguez-Ruiz, The PAGE Consortium, Diana O. Perkins, Tonu Esko, Jian Yang +479 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

PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Genome Research(2007)10.1101/gr.6861907

N/A

1.1DataRank · unranked

1896 citations

Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F.A. Grant +5 more

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

PLoS Genetics(2020)10.1371/journal.pgen.1008718

N/A

0.819DataRank · unranked

234 citations

Jonathan P. Bradfield, Tarunveer S. Ahluwalia, John A. Curtin, Timo A. Lakka, Niels Grarup +95 more

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100099

N/A

0.759DataRank · unranked

25 citations

Mariaelisa Graff, Victoria L. Buchanan, Anne E. Justice, Heather M. Highland, Xiuqing Guo +95 more

GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors

American Journal of Psychiatry(2023)10.1176/appi.ajp.21121266

N/A

0.757DataRank · unranked

154 citations

Niamh Mullins, Allison E. Ashley‐Koch, Xuejun Qin, Jonathan R. I. Coleman, Andrey A. Shabalin +95 more

Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure

Nature Communications(2022)10.1038/s41467-022-34216-6

N/A

0.754DataRank · unranked

151 citations

Noah L. Tsao, Pankhuri Singhal, Chang Liu, Ha My T. Vy, Ishan Paranjpe +38 more

Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guide Chemotherapy Dosing

Frontiers in Oncology(2022)10.3389/fonc.2022.859846

N/A

0.741DataRank · unranked

20 citations

Madhuri Bhupathiraju, Glenda Hoffecker, Shannon Terek, Margaret Harr, Håkon Håkonarson +13 more

Clustering of single-cell multi-omics data with a multimodal deep learning method

Nature Communications(2022)10.1038/s41467-022-35031-9

N/A

0.731DataRank · unranked

130 citations

Tian Tian, Zhi Wei, Håkon Håkonarson, Xiang Lin

Common Genetic Variation and Age of Onset of Anorexia Nervosa

Biological Psychiatry Global Open Science(2021)10.1016/j.bpsgos.2021.09.001

N/A

0.726DataRank · unranked

30 citations

Laura M. Thornton, Zeynep Yılmaz, Jessica H. Baker, Jonathan R. I. Coleman, Roger A.H. Adan +95 more

A genome-wide association study of polycystic ovary syndrome identified from electronic health records

American Journal of Obstetrics and Gynecology(2020)10.1016/j.ajog.2020.04.004

N/A

0.698DataRank · unranked

104 citations

Kevin Ho, Jacob M. Keaton, Dustin N. Hartzel, Felix R. Day, Anne E. Justice +15 more

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

Nature Communications(2020)10.1038/s41467-019-13624-1

N/A

0.672DataRank · unranked

87 citations

Joseph Glessner, Bradley P. Coe, Jin Li, Maedeh Mohebnasab, Xiao Chang +36 more

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Brain(2020)10.1093/brain/awaa171

N/A

0.661DataRank · unranked

81 citations

Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus +86 more

Type I IFN response associated with mTOR activation in the TAFRO subtype of idiopathic multicentric Castleman disease

JCI Insight(2020)10.1172/jci.insight.135031

N/A

0.631DataRank · unranked

66 citations

Alberto Sada Japp, Michael V. Gonzalez, Rozena Rasheed, Mariko Okumura, Daniel Arenas +10 more

Genomic profiling informs diagnoses and treatment in vascular anomalies

Nature Medicine(2023)10.1038/s41591-023-02364-x

N/A

0.628DataRank · unranked

65 citations

Sarah E. Sheppard, Michael March, Mark R. Battig, Lea F. Surrey, Abhay Srinivasan +37 more

A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies

The Journal of Clinical Endocrinology & Metabolism(2020)10.1210/clinem/dgz326

N/A

0.626DataRank · unranked

64 citations

Ky’Era V. Actkins, Jennifer A. Pacheco, Anna O. Basile, Robert J. Carroll, David R. Crosslin +66 more

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.009

N/A

0.617DataRank · unranked

60 citations

Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng +95 more

Genetic correlations between COVID-19 and a variety of traits and diseases

The Innovation(2021)10.1016/j.xinn.2021.100112

N/A

0.607DataRank · unranked

12 citations

Yun Li, Kenny Nguyen, Hui‐Qi Qu, Yichuan Liu, Joseph Glessner +3 more

Multiancestral polygenic risk score for pediatric asthma

Journal of Allergy and Clinical Immunology(2022)10.1016/j.jaci.2022.03.035

N/A

0.593DataRank · unranked

51 citations

Michael Lape, Edyta Małolepsza, Stanley B. DeVore, Matthew T. Weirauch, Ozan Dikilitas +19 more

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Cell Reports(2021)10.1016/j.celrep.2021.110020

N/A

0.581DataRank · unranked

47 citations

Jennifer Nguyen, Timothy D. Arthur, Hiroko Matsui, Agnieszka D’Antonio‐Chronowska, Kelly A. Frazer +85 more

Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes

European Urology(2023)10.1016/j.eururo.2023.05.008

N/A

0.579DataRank · unranked

19 citations

Jung Kim, Jonathan P. Bradfield, Scott M. Damrauer, Kurt D’Andrea, Lawrence H. Einhorn +14 more

Macrophages in SHH subgroup medulloblastoma display dynamic heterogeneity that varies with treatment modality

Cell Reports(2021)10.1016/j.celrep.2021.108917

N/A

0.571DataRank · unranked

44 citations

Michael V. Gonzalez, Krutika S. Gaonkar, Komal S. Rathi, Patricia Young, Sherjeel Arif +19 more

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

JCI Insight(2023)10.1172/jci.insight.155888

N/A

0.550DataRank · unranked

38 citations

Michael March, Christoph Seiler, Leticia S. Matsuoka, S Kim, Charlly Kao +28 more

Risk of pre‐eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case–control study

BJOG An International Journal of Obstetrics & Gynaecology(2020)10.1111/1471-0528.16441

N/A

0.542DataRank · unranked

36 citations

VP Kovacheva, Hooman Mirzakhani, A. C. Bjonnes, Berta Almoguera, Melissa L. Wilson +11 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Science Advances(2021)10.1126/sciadv.abf2066

N/A

0.529DataRank · unranked

33 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Genetic architecture of asthma in African American patients

Journal of Allergy and Clinical Immunology(2022)10.1016/j.jaci.2022.09.001

N/A

0.520DataRank · unranked

31 citations

Michael March, Frank Mentch, Hui‐Qi Qu, Yichuan Liu, Joseph Glessner +3 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

Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism

Nature Communications(2024)10.1038/s41467-024-51947-w

N/A

0.479DataRank · unranked

10 citations

Julius Juodakis, Karin Ytterberg, Xiaoping Wu, Jonathan P. Bradfield, Marc Vaudel +18 more

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5

N/A

0.477DataRank · unranked

23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 more

Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma

Acta Neuropathologica Communications(2020)10.1186/s40478-020-01038-w

N/A

0.477DataRank · unranked

23 citations

Chenan Zhang, Quinn T. Ostrom, Eleanor C. Semmes, Vijay Ramaswamy, Helen M. Hansen +12 more

Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.007

N/A

0.470DataRank · unranked

22 citations

Yogasudha Veturi, Scott Dudek, Anastasia Lucas, Alex Frase, Kristel Van Steen +14 more

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

Genetics in Medicine(2021)10.1016/j.gim.2021.09.014

N/A

0.449DataRank · unranked

19 citations

Irena Feng, Ana Rita Costa, Rita Pinto‐Costa, Jennifer E. Neil, Oana Caluseriu +21 more

The polygenic architecture of left ventricular mass mirrors the clinical epidemiology

Scientific Reports(2020)10.1038/s41598-020-64525-z

N/A

0.442DataRank · unranked

18 citations

Rebecca T. Levinson, Eric Farber‐Eger, Todd L. Edwards, Jacklyn N. Hellwege, Adriana M. Hung +20 more

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.27.445969

N/A

0.434DataRank · unranked

17 citations

Mariaelisa Graff, Victoria L. Buchanan, Anne E. Justice, Heather M. Highland, Xiuqing Guo +95 more

Large trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche

Human Reproduction(2021)10.1093/humrep/deab086

N/A

0.416DataRank · unranked

15 citations

Diana L. Cousminer, Nora Franceschini, Laura M. Raffield, Guochong Jia, Lindsay Fernández‐Rhodes +20 more

Novel EDGE encoding method enhances ability to identify genetic interactions

PLoS Genetics(2021)10.1371/journal.pgen.1009534

N/A

0.402DataRank · unranked

8 citations

John R. Wallace, Anastasia Lucas, Yuki Bradford, Shefali S. Verma, Bertram Müller‐Myhsok +16 more

Ambient air pollution sensitivity and severity of pediatric asthma

Journal of Exposure Science & Environmental Epidemiology(2023)10.1038/s41370-023-00573-7

N/A

0.396DataRank · unranked

13 citations

Frank Mentch, Håkon Håkonarson, Jelte Kelchtermans

Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis

Arthritis & Rheumatology(2022)10.1002/art.42129

N/A

0.372DataRank · unranked

9 citations

Leslie A. Lange, Joseph Glessner, Jie Yang, Michael March, Charlly Kao +23 more

Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma

JNCI Journal of the National Cancer Institute(2022)10.1093/jnci/djac012

N/A

0.360DataRank · unranked

10 citations

Yichuan Liu, Joseph Glessner, Cuiping Hou, Hui‐Qi Qu, Kenny Nguyen +6 more

HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions

Frontiers in Genetics(2021)10.3389/fgene.2021.756645

N/A

0.360DataRank · unranked

10 citations

Xiao Chang, Michael March, Frank Mentch, Patrick Sleiman, Håkon Håkonarson +1 more

TOPORS as a novel causal gene for Joubert syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63303

N/A

0.355DataRank · unranked

6 citations

Hui‐Qi Qu, Sinéad Cullina, Morgan L. McManus, Elaine H. Zackai, Joseph Glessner +3 more

Genome-wide association study meta-analysis of suicide attempt identifies twelve genome-wide significant loci and implicates genetic risks for specific health factors

medRxiv(2022)10.1101/2022.07.03.22277199

N/A

0.345DataRank · unranked

9 citations

Niamh Mullins, Allison E. Ashley‐Koch, Xuejun Qin, Jonathan R. I. Coleman, Andrey A. Shabalin +95 more

Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B

The Journal of Clinical Endocrinology & Metabolism(2020)10.1210/clinem/dgaa286

N/A

0.345DataRank · unranked

9 citations

Caleb Bupp, Michael March, Håkon Håkonarson, Michael A. Levine, Dong Li

Neptune: an environment for the delivery of genomic medicine

Genetics in Medicine(2021)10.1038/s41436-021-01230-w

N/A

0.330DataRank · unranked

8 citations

Victoria Yi, David R. Murdock, Sara E. Kalla, Tsung-Jung Wu, Aniko Sabo +93 more

Trans‐ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study

Alzheimer s & Dementia(2023)10.1002/alz.13378

N/A

0.330DataRank · unranked

8 citations

Hui‐Qi Qu, John J. Connolly, Frank Mentch, Alexandre C. Pereira, Paulo A. Lotufo +19 more

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

medRxiv(2023)10.1101/2023.05.25.23290535

N/A

0.330DataRank · unranked

8 citations

Leah C. Kottyan, Christopher Kachulis, Noura S. Abul‐Husn, Josh Arias, Gillian M. Belbin +71 more

Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics

Nature Communications(2021)10.1038/s41467-020-20211-2

N/A

0.330DataRank · unranked

8 citations

Rui Duan, Xinyuan Zhang, Thomas Lumley, Sarah A. Pendergrass, Christopher R. Bauer +14 more

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63385

N/A

0.312DataRank · unranked

7 citations

Lydia S. Williams, Niambi Brewer, Lea F. Surrey, Abhay Srinivasan, Dong Li +14 more

Clinical associations with a polygenic predisposition to benign lower white blood cell counts

Nature Communications(2024)10.1038/s41467-024-47804-5

N/A

0.312DataRank · unranked

7 citations

John P. Shelley, Alyson L. Dickson, Jacy Zanussi, Laura L. Daniel, Neil S. Zheng +23 more

Germline pathogenic variants in 786 neuroblastoma patients

medRxiv(2023)10.1101/2023.01.23.23284864

N/A

0.292DataRank · unranked

6 citations

Zalman Vaksman, Laura E. Egolf, Rebecca S. Kaufman, Perry Evans, Karina L. Conkrite +23 more

Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping

medRxiv(2020)10.1101/2020.02.17.20024133

N/A

0.290DataRank · unranked

5 citations

Yadav Wagley, James A. Pippin, Ahmed Elhakeem, Gregory P. Way, Shana E. McCormack +28 more

Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection

Scientific Reports(2023)10.1038/s41598-023-45649-4

N/A

0.281DataRank · unranked

3 citations

Taryn O. Hall, Dana C. Crawford, Robb Rowley, Benjamin A. Satterfield, Rongling Li +21 more

Identification of genetic variants associated with clinical features of sickle cell disease

Scientific Reports(2024)10.1038/s41598-024-70922-5

N/A

0.269DataRank · unranked

5 citations

Xiao Chang, Frank Mentch, Kim Smith‐Whitley, Anita Bhandari, Cindy Norris +3 more

DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia

Journal of Clinical Immunology(2025)10.1007/s10875-025-01877-z

N/A

0.269DataRank · unranked

5 citations

Leila Youssefian, Mohammad Amin Tabatabaiefar, Amir Hossein Saeidian, Bahareh Abtahi‐Naeini, Erfan Khorram +21 more

Maternal effect genes as risk factors for congenital heart defects

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100098

N/A

0.269DataRank · unranked

5 citations

Omobola O. Oluwafemi, A. J. Agopian, Håkon Håkonarson, Elizabeth Goldmuntz, Laura E. Mitchell +1 more

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States

Genes(2021)10.3390/genes12071030

N/A

0.250DataRank · unranked

4 citations

Fadi I. Musfee, Laura E. Mitchell, Elizabeth Goldmuntz, Hongbo M. Xie, Håkon Håkonarson +7 more

Mendelian randomization analysis of plasma levels of CD209 and MICB proteins and the risk of varicose veins of lower extremities

PLoS ONE(2022)10.1371/journal.pone.0268725

N/A

0.241DataRank · unranked

4 citations

Elizaveta E. Elgaeva, Ian B. Stanaway, Gail P. Jarvik, Bahram Namjou, Wei‐Qi Wei +5 more

The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling

medRxiv(2025)10.1101/2025.07.25.25332168

N/A

0.241DataRank · unranked

4 citations

Poppy A. Gould, Yiming Luo, Errol P. Prens, Lee Wheless, Adriana M. Hung +47 more

Interpretation of Maturity-Onset Diabetes of the Young Genetic Variants Based on American College of Medical Genetics and Genomics Criteria: Machine-Learning Model Development

JMIR Biomedical Engineering(2020)10.2196/20506

N/A

0.208DataRank · unranked

3 citations

Hui‐Qi Qu, Adam S Wenocur, Jingchun Qu, Xiao Chang, Joseph Glessner +4 more

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network

UNC Libraries(2020)10.17615/bzr0-ap70

N/A

0.208DataRank · unranked

3 citations

Elad Ziv, Alan B. Zonderman, Jin Li, Ruth J. F. Loos, Michael A. Nalls +27 more

Voriconazole metabolism is associated with the number of skin cancers per patient

Archives of Dermatological Research(2024)10.1007/s00403-024-03135-5

N/A

0.208DataRank · unranked

3 citations

Isabelle T. Smith, Dominique Mosley, Christopher Madden, Sarah Grossarth, Briana R. Halle +6 more

The International Health Cohorts Consortium (IHCC) advances population health research and genomic discovery

Communications Medicine(2025)10.1038/s43856-025-01026-y

Top 65%

0.194DataRank

Top 65%2 citations

Scott S. Sundseth, Grant M. Wood, Chisom Nwaneri, Geoffrey S. Ginsburg, Philip Awadalla +6 more

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

UNC Libraries(2024)10.17615/wtnq-mm76

N/A

0.191DataRank · unranked

2 citations

John A. Curtin, R.L. Hanson, Niina Pitkänen, Anthony G. Comuzzie, Jaakko T. Leinonen +94 more

Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome

Molecular Psychiatry(2025)10.1038/s41380-025-03065-2

N/A

0.113DataRank · unranked

1 citations

Hui‐Qi Qu, Xiao Chang, Frank Mentch, Haijun Qiu, Shahram Torkamandi +6 more

Genome-wide association study and HLA genotyping for beryllium disease susceptibility in a European descent population

Gene(2025)10.1016/j.gene.2025.149820

N/A

0.104DataRank · unranked

1 citations

Tasha E. Fingerlin, Sean Jacobson, Margaret M. Mroz, Kenneth D. Rosenman, Milton D. Rossman +10 more

A One-Shot Lossless Algorithm for Cross-Cohort Learning in Mixed-Outcomes Analysis

medRxiv(2024)10.1101/2024.01.09.24301073

N/A

0.104DataRank · unranked

1 citations

Luke Benz, Rui Duan, Joshua C. Denny, Håkon Håkonarson, Jonathan D. Mosley +7 more

The ulcerative colitis risk gene adenylyl cyclase 7 restrains the T-helper 2 phenotype and Class II antigen presentation

Journal of Crohn s and Colitis(2025)10.1093/ecco-jcc/jjaf030

N/A

0.104DataRank · unranked

1 citations

Yichuan Liu, Aayush Kevadia, Alanna Strong, Val J. Watts, Håkon Håkonarson +1 more

Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height

npj Genomic Medicine(2025)10.1038/s41525-025-00464-w

N/A

0.104DataRank · unranked

1 citations

Elizabeth Litkowski, Mariaelisa Graff, Zhe Wang, Roelof A. J. Smit, Geetha Chittoor +34 more

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development

Molecular Cancer(2023)10.1186/s12943-023-01828-5

N/A

0.104DataRank · unranked

1 citations

Hui‐Qi Qu, Xiao Chang, Frank Mentch, Haijun Qiu, Xiang Wang +5 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189

N/A

0DataRank · unranked

36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more

Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans

Translational Psychiatry(2020)10.1038/s41398-020-01064-1

N/A

0DataRank · unranked

19 citations

Yichuan Liu, Frank Mentch, Joseph Glessner, Hui‐Qi Qu, Kenny Nguyen +3 more

A distinct GM-CSF + T helper cell subset requires T-bet to adopt a T H 1 phenotype and promote neuroinflammation

Science Immunology(2020)10.1126/sciimmunol.aba9953

N/A

0DataRank · unranked

54 citations

Giacomo Casella, Satoshi Yoshimura, Weifeng Zhang, Dan Xiao, James Garifallou +11 more

Kaposiform lymphangiomatosis effectively treated with MEK inhibition

EMBO Molecular Medicine(2020)10.15252/emmm.202012324

N/A

0DataRank · unranked

104 citations

Dong Li, Michael March, Sarah E. Sheppard, Denise M. Adams, Håkon Håkonarson +2 more

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review

Genetics in Medicine(2023)10.1016/j.gim.2023.101028

N/A

0DataRank · unranked

10 citations

Atefeh Sohanforooshan Moghaddam, Mohammad Amin Tabatabaiefar, Roya Sherkat, Leila Youssefian, Amir Hossein Saeidian +9 more

A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder–Associated Copy Number Variations

Biological Psychiatry(2023)10.1016/j.biopsych.2023.10.011

N/A

0DataRank · unranked

4 citations

Hui‐Qi Qu, Yichuan Liu, Joseph Glessner, Håkon Håkonarson, Xiao Chang

Trans‐ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study

Clinical and Translational Medicine(2023)10.1002/ctm2.1291

N/A

0DataRank · unranked

6 citations

John J. Connolly, Peter Kraft, Jirong Long, Alexandre C. Pereira, Christopher Flatley +15 more

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63130

N/A

0DataRank · unranked

3 citations

Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee +34 more

High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations

Translational research(2023)10.1016/j.trsl.2023.11.004

N/A

0DataRank · unranked

1 citations

Joseph Glessner, Jingchun Qu, Yichuan Liu, Deborah Watson, Xiao Chang +6 more

Complex hierarchical structures in single-cell genomics data unveiled by deep hyperbolic manifold learning

Genome Research(2023)10.1101/gr.277068.122

N/A

0DataRank · unranked

22 citations

Cheng Zhong, Xiang Lin, Zhi Wei, Håkon Håkonarson, Tian Tian

Trans-ethnic Polygenic Risk Scores for Body Mass Index: An International Hundred K+ Cohorts Consortium Study

medRxiv(2023)10.1101/2023.01.17.23284675

N/A

0DataRank · unranked

1 citations

John J. Connolly, Peter Kraft, Jirong Long, Alexandre Pereira, Christopher Flatley +15 more

Multiple independent gene disorders causing Bardet--Biedl syndrome, congenital hypothyroidism, and hearing loss in a single Indian consanguineous patient

(2023)10.22541/au.167722036.60770586/v1

N/A

0DataRank · unranked

0 citations

Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa M. Elden, Thomas Aleman +4 more

Data from Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors

(2023)10.1158/1078-0432.c.6517843.v1

Top 100%

0DataRank

Top 100%0 citations

Angela J. Sievert, Xiaowu Gai, Håkon Håkonarson, Alexander R. Judkins, Laura Tooke +5 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma

UNC Libraries(2023)10.17615/wyeg-xr78

N/A

0DataRank · unranked

0 citations

Håkon Håkonarson, Anupama Modi, Sharon J. Diskin, Andrew F. Olshan, Hakon Hakonarson +4 more

Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient

Brain Sciences(2023)10.3390/brainsci13081210

N/A

0DataRank · unranked

0 citations

Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa M. Elden, T. S. Aleman +4 more

Clinical consequences of a polygenic predisposition to benign lower white blood cell counts

medRxiv(2023)10.1101/2023.08.20.23294331

N/A

0DataRank · unranked

0 citations

John P. Shelley, Alyson L. Dickson, Jacy Zanussi, Laura L. Daniel, Neil S. Zheng +23 more

Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.002

N/A

0DataRank · unranked

175 citations

Daniel J. Schaid, Matthew Kosel, Robert J. Carroll, Christopher G. Chute, Joshua C. Denny +17 more

Dependency-aware deep generative models for multitasking analysis of spatial omics data

Nature Methods(2024)10.1038/s41592-024-02257-y

N/A

0DataRank · unranked

57 citations

Jie Zhang, Xiang Lin, Zhi Wei, Håkon Håkonarson, Tian Tian

Oncogene-induced matrix reorganization controls CD8+ T cell function in the soft-tissue sarcoma microenvironment

Journal of Clinical Investigation(2024)10.1172/jci167826

N/A

0DataRank · unranked

20 citations

Hawley C. Pruitt, Ying Liu, Valerie Irizarry-Negron, Hehai Pan, Hoogeun Song +19 more

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome

Genetics in Medicine(2024)10.1016/j.gim.2024.101222

N/A

0DataRank · unranked

8 citations

Michael March, Christopher J. Cardinale, Yichuan Liu, Mark R. Battig, Lívia Sertori Finoti +15 more

Genetic modifiers of asthma response to air pollution in children: An African ancestry GWAS and PM2.5 polygenic risk score study

Environmental Research(2024)10.1016/j.envres.2024.120666

N/A

0DataRank · unranked

8 citations

Michael March, Frank Mentch, Hui‐Qi Qu, Yichuan Liu, Kenny Nguyen +2 more

The common variable immunodeficiency IgM repertoire narrowly recognizes erythrocyte and platelet glycans

Journal of Allergy and Clinical Immunology(2024)10.1016/j.jaci.2024.04.018

N/A

0DataRank · unranked

3 citations

Melissa Trofa, Dorothy L. Butler, Samuel Yoon, Tian Tian, Whitney Reid +17 more

Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children

Scientific Reports(2024)10.1038/s41598-024-72348-5

N/A

0DataRank · unranked

1 citations

Michael March, Håkon Håkonarson, Sharon A. McGrath‐Morrow, Jelte Kelchtermans

SCOTCH: isoform-level characterization of gene expression through long-read single-cell RNA sequencing

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.04.29.590597

N/A

0DataRank · unranked

5 citations

Hui‐Qi Qu, Joe Chan, Shizhuo Mu, Charlly Kao, Håkon Håkonarson +2 more

Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children

Research Square(2024)10.21203/rs.3.rs-3921095/v1

N/A

0DataRank · unranked

0 citations

Michael March, Håkon Håkonarson, Sharon A. McGrath‐Morrow, Jelte Kelchtermans

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

UNC Libraries(2024)10.17615/etgc-4v12

N/A

0DataRank · unranked

0 citations

S.M. Gogarten, C.R. Isasi, Fernando Pires Hartwig, Sharon G. Adler, Wenjun Zhu +95 more

Copy number variations contribute to malignant tumor development in children with serious birth defects

Molecular Oncology(2024)10.1002/1878-0261.13718

N/A

0DataRank · unranked

0 citations

Joseph Glessner, Hui‐Qi Qu, Xiao Chang, Haijun Qiu, Tiancheng Wang +3 more

Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes

UNC Libraries(2024)10.17615/c75g-gz70

N/A

0DataRank · unranked

0 citations

Maties Torrent, Struan F.A. Grant, Jonathan A. Mitchell, Joseph M. Kindler, Emily Oken +95 more

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

UNC Libraries(2024)10.17615/wkay-d758

N/A

0DataRank · unranked

0 citations

Stefan Weiß, Jeanette Erdmann, Kristian Hveem, Florian Kronenberg, Wen‐Jane Lee +95 more

Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis

Nature Communications(2025)10.1038/s41467-025-58310-7

N/A

0DataRank · unranked

13 citations

Mrinal K. Sarkar, Michael March, Amir Hossein Saeidian, Frank Mentch, Chen-Lin Hsieh +16 more

Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis

JCI Insight(2025)10.1172/jci.insight.186862

N/A

0DataRank · unranked

2 citations

Niels Mailand, Emma Ewing, Saskia Hoffmann, Richard Caswell, Lewis Pang +6 more

The gSOS polygenic score is associated with bone density and fracture risk in childhood

Journal of Bone and Mineral Research(2025)10.1093/jbmr/zjaf149

N/A

0DataRank · unranked

2 citations

Jonathan P. Bradfield, Shana E. McCormack, Alessandra Chesi, Heidi J. Kalkwarf, Joan M. Lappe +9 more

Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant

Pediatric Blood & Cancer(2025)10.1002/pbc.32015

N/A

0DataRank · unranked

1 citations

Sumukh Kumar, Allison Britt, Abhay Srinivasan, Lea F. Surrey, Seth Vatsky +7 more

Urobiota analysis and genome-wide association study in pediatric recurrent urinary tract infections and vesicoureteral reflux

JCI Insight(2025)10.1172/jci.insight.199689

N/A

0DataRank · unranked

1 citations

Pavan Khosla, Daniel L. Bivona, Atlas Khan, Yask Gupta, Heekuk Park +19 more

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.63989

N/A

0DataRank · unranked

0 citations

Kierstin Keller, Dong Li, Hope Thomas, Nora O’Connor, Abbas F. Jawad +6 more

The gSOS Polygenic Score is Associated with Bone Density and Fracture Risk in Childhood

medRxiv(2025)10.1101/2025.04.22.25325387

N/A

0DataRank · unranked

0 citations

Jonathan P. Bradfield, Shana E. McCormack, Alessandra Chesi, Heidi J. Kalkwarf, Joan M. Lappe +9 more

Development and validation of a Trans-Ancestry polygenic risk score for Type 1 Diabetes

medRxiv(2025)10.1101/2025.06.09.25329166

N/A

0DataRank · unranked

0 citations

Hui‐Qi Qu, Tianyuan Lu, Kai Liu, Erica L. Kleinbrink, Kathleen Klein +11 more

A one-shot, lossless algorithm for cross-cohort learning in mixed-outcomes analysis

Patterns(2025)10.1016/j.patter.2025.101321

N/A

0DataRank · unranked

0 citations

Luke Benz, Rui Duan, Joshua C. Denny, Håkon Håkonarson, Jonathan D. Mosley +7 more

Data from Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors

(2023)10.1158/1078-0432.c.6517843

Top 100%

0DataRank

Top 100%0 citations

Angela J. Sievert, Xiaowu Gai, Håkon Håkonarson, Alexander R. Judkins, Laura Tooke +5 more

Model-based deep embedding for constrained clustering analysis of single cell RNA-seq data

Nature Communications(2021)10.1038/s41467-021-22008-3

N/A

0DataRank · unranked

149 citations

Jie Zhang, Xiang Lin, Zhi Wei, Håkon Håkonarson, Tian Tian

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array

UNC Libraries(2020)10.17615/cjxw-ka66

N/A

0DataRank · unranked

0 citations

Ron C. Hoogeveen, Aaron R. Folsom, Brendan J. Keating, Andrew Johnson, Tom Palmer +17 more

The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa

UNC Libraries(2020)10.17615/4j22-de38

N/A

0DataRank · unranked

0 citations

Laura M. Thornton, Andrew W. Bergen, Scott J. Crow, Arun Tiwari, Cynthia M. Bulik +22 more

Genetic studies of leptin concentrations implicate leptin in the regulation of early adiposity

(2020)10.2337/figshare.12933737.v1

N/A

0DataRank · unranked

0 citations

Hanieh Yaghootkar, Yiying Zhang, Cassandra N. Spracklen, Tugce Karaderi, Lam Opal Huang +95 more

Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62430

N/A

0DataRank · unranked

9 citations

Jonathan A. Perkins, Julia Parish‐Morris, Anne Hing, Maida L. Chen, Christopher M. Cielo︎ +12 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

medRxiv(2020)10.1101/2020.10.26.20217109

N/A

0DataRank · unranked

0 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Genetics in Medicine(2021)10.1016/j.gim.2021.10.014

N/A

0DataRank · unranked

4 citations

Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily Farrow, Isabelle Thiffault +35 more

Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects

Genes(2021)10.3390/genes12050655

N/A

0DataRank · unranked

3 citations

A. J. Agopian, Elizabeth Goldmuntz, Håkon Håkonarson, Bernice E. Morrow, Deanne Taylor +5 more

Novel KITLG/SCF regulatory variants are associated with lung function in African American children with asthma

medRxiv(2020)10.1101/2020.02.20.20019588

N/A

0DataRank · unranked

0 citations

Satria P. Sajuthi, Jaehyun Joo, Shujie Xiao, Patrick Sleiman, Marquitta J. White +30 more

Risk of preeclampsia in patients with genetic predisposition to common medical conditions: a case-control study

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.03.04.976472

N/A

0DataRank · unranked

0 citations

Vesela Kovacheva, Hooman Mirzakhani, Andrew Bjonnes, Berta Almoguera, Melissa L. Wilson +11 more

Genetic association of primary non-response to Anti-TNFα therapy in patients with Inflammatory Bowel Disease

medRxiv(2020)10.1101/2020.06.23.20138495

N/A

0DataRank · unranked

2 citations

Hong Zhang, Carlos A. Rodríguez-Alarcón, Bianca Lec, Juan Avitia, Erin Smithberger +19 more

Machine learning reduced gene/non-coding RNA features that classify Schizophrenia patients accurately and highlight insightful gene clusters

medRxiv(2020)10.1101/2020.06.08.20125906

N/A

0DataRank · unranked

2 citations

Hui‐Qi Qu, Xiao Chang, Lifeng Tian, Joseph Glessner, Patrick Sleiman +2 more

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

medRxiv(2020)10.1101/2020.02.20.20025924

N/A

0DataRank · unranked

3 citations

Joanna Cobb, Marta Brożyńska, John Bowes, Leslie A. Lange, Samantha Smith +7 more

Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

medRxiv(2020)10.1101/2020.12.01.20241281

N/A

0DataRank · unranked

29 citations

Jooeun Kang, Adrián I. Campos, Jonathan R. I. Coleman, Alexis C. Edwards, Hanga Galfalvy +95 more

Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals

UNC Libraries(2020)10.17615/4jbt-0545

N/A

0DataRank · unranked

3 citations

Brendan J. Keating, Kira C. Taylor, Håkon Håkonarson, Leslie A. Lange, Matthew B. Lanktree +1 more

Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network

Genetic Epidemiology(2020)10.1002/gepi.22360

N/A

0DataRank · unranked

10 citations

Daniel Seung Kim, David R. Crosslin, Ian B. Stanaway, Elisabeth A. Rosenthal, David Carrell +19 more

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100102

N/A

0DataRank · unranked

26 citations

Laura Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stéphanie Moortgat +34 more

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.02.005

N/A

0DataRank · unranked

24 citations

Minal Menezes, Yiran Guo, Scott McLean, Håkon Håkonarson, Felicity Collins +13 more

Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality

Frontiers in Physiology(2020)10.3389/fphys.2020.538701

N/A

0DataRank · unranked

26 citations

Mylarappa Ningappa, Joseph Glessner, Jun Min, Chethan Ashokkumar, Sarangarajan Ranganathan +29 more

Metabolomic profiling of samples from pediatric patients with asthma unveils deficient nutrients in African Americans

iScience(2022)10.1016/j.isci.2022.104650

N/A

0DataRank · unranked

11 citations

Joseph Glessner, Jingchun Qu, Steven Gilhool, Frank Mentch, Ian M. Campbell +4 more

Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing

Biomarker Research(2022)10.1186/s40364-022-00431-y

N/A

0DataRank · unranked

8 citations

Hui‐Qi Qu, Xiao Chang, Frank Mentch, Haijun Qiu, Kenny Nguyen +6 more

Human T follicular helper clones seed the germinal center-resident regulatory pool

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.10.26.513910

N/A

0DataRank · unranked

7 citations

Derek A. Oldridge, Ramin S. Herati, Nina De Luna, James Garifallou, Emylette Cruz Cabrera +12 more

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

medRxiv(2022)10.1101/2022.08.09.22278430

N/A

0DataRank · unranked

1 citations

Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang +48 more

Trans-ethnic Genomic Informed Risk Assessment for Alzheimer’s disease: An International Hundred K+ Cohorts Consortium Study

medRxiv(2022)10.1101/2022.12.22.22283738

N/A

0DataRank · unranked

1 citations

Hui‐Qi Qu, John J. Connolly, Frank Mentch, Alexandre C. Pereira, Paulo A. Lotufo +19 more

Autophagy mitigates ethanol-induced mitochondrial dysfunction and oxidative stress in esophageal keratinocytes

PLoS ONE(2020)10.1371/journal.pone.0239625

N/A

0DataRank · unranked

26 citations

Manti Guha, Masataka Shimonosono, Kelly A. Whelan, Hisatsugu Maekawa, Uma M. Sachdeva +15 more

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

Annals of the Rheumatic Diseases(2020)10.1136/annrheumdis-2020-217421

N/A

0DataRank · unranked

28 citations

Joanna Cobb, Marta Brożyńska, John Bowes, Yun R Li, Samantha Smith +7 more

Human T follicular helper clones seed the germinal center–resident regulatory pool

Science Immunology(2023)10.1126/sciimmunol.ade8162

N/A

0DataRank · unranked

65 citations

Derek A. Oldridge, Ramin S. Herati, Nina De Luna, James Garifallou, Emylette Cruz Cabrera +13 more

Unsupervised modeling and genome-wide association identify novel features of allergic march trajectories

Journal of Allergy and Clinical Immunology(2020)10.1016/j.jaci.2020.06.026

N/A

0DataRank · unranked

33 citations

Xiao Chang, Jesse Dudley, Frank Mentch, Michael March, John H. Holmes +5 more

European genetic ancestry associated with risk of childhood ependymoma

Neuro-Oncology(2020)10.1093/neuonc/noaa130

N/A

0DataRank · unranked

33 citations

Quinn T. Ostrom, Helen M. Hansen, Julio Gonzalez‐Maya, Donglei Hu, Elad Ziv +17 more

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61615

N/A

0DataRank · unranked

35 citations

Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T.C. Shieh +26 more

Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes

Journal of Hepatology(2023)10.1016/j.jhep.2023.07.039

N/A

0DataRank · unranked

31 citations

Mylarappa Ningappa, Kim A. Ngo, Maliha Zahid, Juhoon So, Brandon W. Higgs +30 more

Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma

JNCI Journal of the National Cancer Institute(2020)10.1093/jnci/djaa024

N/A

0DataRank · unranked

11 citations

Marina Bakay, Yichuan Liu, Joseph Glessner, Komal S. Rathi, Cuiping Hou +8 more

Håkon Håkonarson

Indexed papers

Top data-sharing exemplar

Papers