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H. Stefánsson · SciRah

Researcher profile · Semantic Scholar

H. Stefánsson

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H. Stefánsson — researcher profile on SciRah

h-index: 107
Works: 375
Citations: 79K

Most-cited papers

Mapping genomic loci implicates genes and synaptic biology in schizophrenia
V. Trubetskoy, A. Pardiñas, Ting Qi, G. Panagiotaropoulou +430 more
2022Nature2,385 citations Open access
Semantic Scholar
Genome-wide analyses of attention deficit hyperactivity disorder identify 27 risk loci, refine the genetic architecture, and implicate several cognitive domains
D. Demontis, G. Walters, G. Athanasiadis, R. Walters +43 more
2022Nature Genetics632 citations Open access
Semantic Scholar
Large-scale plasma proteomics comparisons through genetics and disease associations
Grimur Hjorleifsson Eldjarn, E. Ferkingstad, S. Lund, H. Helgason +29 more
2023Nature506 citations Open access
Semantic Scholar
Genetic diversity fuels gene discovery for tobacco and alcohol use
Gretchen R. B. Saunders, Xingyan Wang, Fang Chen, Seonkyeong Jang +213 more
2022Nature426 citations Open access
Semantic Scholar
Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses
T. Als, M. Kurki, J. Grove, G. Voloudakis +39 more
2023Nature Medicine294 citations Open access
Semantic Scholar
Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies
M. Adams, F. Streit, Xiangrui Meng, S. Awasthi +374 more
2025Cell247 citations Open access
Semantic Scholar
Genomics yields biological and phenotypic insights into bipolar disorder
K. O'Connell, M. Koromina, Tracey van der Veen, T. Boltz +309 more
2025Nature215 citations Open access
Semantic Scholar
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
R. Stevelink, C. Campbell, Si-Wei Chen, B. Abou-Khalil +315 more
2023Nature Genetics198 citations Open access
Semantic Scholar
Mapping the genetic landscape across 14 psychiatric disorders
A. Grotzinger, J. Werme, W. Peyrot, O. Frei +52 more
2025Nature139 citations Open access
Semantic Scholar
Whole-genome sequencing of 490,640 UK Biobank participants
K. Carss, B. Halldórsson, Li-Ping Hou, Jimmy Liu +204 more
2025Nature111 citations Open access
Semantic Scholar
The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v.1
E. Corfield, A. Shadrin, O. Frei, Z. Rahman +23 more
2024bioRxiv87 citations Open access
Semantic Scholar
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset
S. Saevarsdottir, L. Stefánsdóttir, P. Sulem, G. Thorleifsson +74 more
2022Annals of the Rheumatic Diseases80 citations Open access
Semantic Scholar
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains
D. Demontis, G. Walters, G. Athanasiadis, R. Walters +45 more
2023Nature Genetics65 citations Open access
Semantic Scholar
Cluster Headache Genomewide Association Study and Meta‐Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor
B. Winsvold, A. V. Harder, C. Ran, M. A. Chalmer +89 more
2023Annals of Neurology59 citations Open access
Semantic Scholar
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction
B. Schormair, Chen Zhao, Steven Bell, M. Didriksen +65 more
2024Nature Genetics58 citations Open access
Semantic Scholar
The correlation between CpG methylation and gene expression is driven by sequence variants
Olafur A. Stefansson, Brynja D. Sigurpálsdóttir, S. Rognvaldsson, G. Halldorsson +28 more
2024Nature Genetics56 citations Open access
Semantic Scholar
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
G. Bjornsdottir, M. A. Chalmer, L. Stefánsdóttir, A. Skuladóttir +90 more
2023Nature Genetics51 citations Open access
Semantic Scholar
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
G. Bjornsdottir, L. Stefánsdóttir, G. Thorleifsson, P. Sulem +42 more
2022Nature Communications48 citations Open access
Semantic Scholar
A causal effects of gut microbiota in the development of migraine
Qiang He, Wenjing Wang, Yang Xiong, Chuan-Yuan Tao +69 more
2023The Journal of Headache and Pain47 citations Open access
Semantic Scholar
Actionable Genotypes and Their Association with Life Span in Iceland.
B. Jensson, G. Arnadottir, Hildigunnur Katrínardóttir, Run Fridriksdottir +39 more
2023New England Journal of Medicine39 citations
Semantic Scholar
How real-world data can facilitate the development of precision medicine treatment in psychiatry
E. Koch, A. Pardiñas, K. O’Connell, P. Selvaggi +22 more
2024Biological Psychiatry38 citations Open access
Semantic Scholar
Causal relationships between migraine and microstructural white matter: a Mendelian randomization study
Lei Zhao, Wenhui Zhao, V. Anttila, V. Artto +66 more
2023The Journal of Headache and Pain26 citations Open access
Semantic Scholar
The Landscape of Shared and Divergent Genetic Influences across 14 Psychiatric Disorders
A. Grotzinger, J. Werme, W. Peyrot, O. Frei +46 more
2025medRxiv23 citations Open access
Semantic Scholar
Genome-wide Association Study points to novel locus for Gilles de la Tourette Syndrome
Fotis Tsetsos, A. Topaloudi, Pritesh R. Jain, Zhiyu Yang +49 more
2023Biological Psychiatry22 citations Open access
Semantic Scholar
Robust inference and widespread genetic correlates from a large-scale genetic association study of human personality
T. Schwaba, Margaret L. Clapp Sullivan, W. Akingbuwa, Kerli Ilves +131 more
2025bioRxiv21 citations Open access
Semantic Scholar
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome
Pritesh R. Jain, T. Miller-Fleming, A. Topaloudi, Dong-Mei Yu +45 more
2022Translational Psychiatry21 citations Open access
Semantic Scholar
Genome-wide association meta-analyses of drug-resistant epilepsy
C. Leu, Andreja Avbersek, R. Stevelink, H. M. Custodio +29 more
2025EBioMedicine19 citations Open access
Semantic Scholar
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity
H. Mbarek, S. Gordon, D. L. Duffy, N. Hubers +53 more
2023Human Reproduction19 citations Open access
Semantic Scholar
Sequence variants affecting voice pitch in humans
Rosa S. Gisladottir, Agnar Helgason, B. Halldórsson, H. Helgason +29 more
2023Science Advances19 citations Open access
Semantic Scholar
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes
Erna V. Ivarsdottir, J. Gudmundsson, V. Tragante, G. Sveinbjornsson +54 more
2024Nature Genetics18 citations Open access
Semantic Scholar
Sequence diversity lost in early pregnancy
G. Arnadottir, Hákon Jónsson, T. Hartwig, J. Gruhn +35 more
2025Nature17 citations Open access
Semantic Scholar
Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease
A. Skuladóttir, V. Tragante, G. Sveinbjornsson, H. Helgason +19 more
2024npj Parkinson's Disease17 citations Open access
Semantic Scholar
Polygenic liability for antipsychotic dosage and polypharmacy - a real-world registry and biobank study
E. Koch, A. Kämpe, M. Alver, Sindri Sigurðarson +17 more
2024Neuropsychopharmacology15 citations Open access
Semantic Scholar
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction
A. Braun, S. Shekhar, D. Levey, Peter Straub +36 more
2024Nature Communications15 citations Open access
Semantic Scholar
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
A. Oddsson, P. Sulem, G. Sveinbjornsson, G. Arnadottir +76 more
2023Nature Communications15 citations Open access
Semantic Scholar
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis
A. Skuladóttir, L. Stefánsdóttir, G. Halldorsson, Olafur A. Stefansson +28 more
2024Communications Biology14 citations Open access
Semantic Scholar
Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders
N. Strom, M. Halvorsen, J. Grove, B. Ásbjörnsdóttir +20 more
2024Biological Psychiatry12 citations Open access
Semantic Scholar
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder
T. Thorgeirsson, V. Tragante, G. Sveinbjornsson, G. Jónsdóttir +26 more
2025Nature Genetics11 citations Open access
Semantic Scholar
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
A. Oddsson, V. Steinthorsdottir, Gudjon R. Oskarsson, U. Styrkársdóttir +37 more
2024Nature Genetics11 citations Open access
Semantic Scholar
Distinct genetic liability profiles define clinically relevant patient strata across common diseases
L. Trastulla, Georgii V. Dolgalev, S. Moser, Laura Jimenez-Barron +306 more
2023Nature Communications11 citations Open access
Semantic Scholar
Recommendations for defining treatment outcomes in major psychiatric disorders using real-world data.
E. Koch, Sophie E. Smart, Guðmundur Einarsson, A. Kämpe +26 more
2025Lancet psychiatry10 citations Open access
Semantic Scholar
Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations
Grimur Hjorleifsson Eldjarn, E. Ferkingstad, S. Lund, H. Helgason +29 more
2024Nature10 citations Open access
Semantic Scholar
Consensus meta-analysis of genome-wide association studies for Alzheimer’s disease and related dementias
Céline Atahualpa Najaf Sven J. Manon Kayenat Fahri Benjam Bellenguez Castillo Morales Amin van der Lee Munta, C. Bellenguez, Atahualpa Castillo Morales, N. Amin +496 more
2026Nature Genetics9 citations Open access
Semantic Scholar
Homozygosity for R47H in TREM2 and the Risk of Alzheimer's Disease.
H. Stefánsson, G. Walters, G. Sveinbjornsson, V. Tragante +63 more
2024New England Journal of Medicine9 citations
Semantic Scholar
Developmental language disorder - heritability and genetic correlations with other disorders affecting language.
R. Nudel, Rikke Vang Chrsitensen, N. Kalnak, M. Lundberg +15 more
2024Psychiatry Research9 citations Open access
Semantic Scholar
Trigeminal neuralgia and its comorbidities: a nationwide disease trajectory study.
Jacob Worm, I. Jørgensen, Ó. Davídsson, H. Hjalgrim +18 more
2024Pain8 citations
Semantic Scholar
DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals
K. Banasik, P. L. Møller, T. Techlo, P. C. Holm +21 more
2023BMC Genomic Data8 citations Open access
Semantic Scholar
Genomic analyses reveal new insights into Alzheimer's disease
E. Uffelmann, D. Wightman, S. Bahrami, A. Shadrin +139 more
2025medRxiv7 citations
Semantic Scholar
Migraine, chronic kidney disease and kidney function: observational and genetic analyses
Wenqiang Zhang, Li Zhang, Luo Yang, Cheng-Han Xiao +84 more
2023Human Genetics7 citations Open access
Semantic Scholar
Distinct metabolic signatures of Alzheimer’s and Parkinson’s disease revealed through genetic overlap with metabolic markers
S. Stinson, A. Shadrin, Zilur Rahman, L. Rødevand +14 more
2025medRxiv6 citations Open access
Semantic Scholar

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