Genetic & Genomic MedicinemedRxivPreprint
Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease
Sahar Gelfman, Rujin Wang, Adrián I. Campos…·Giovanni Coppola
1 citation
Author
Jae-Hoon Sul
Merck & Co., Inc., Rahway, NJ, USA (United States)
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Biology Disciplines
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2016-2026 · peak 1/yrCo-Author Collaboration Network
10 top collaborators · 45 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship3 shared papersGenetic & Genomic Medicine
Aarno V. PalotieORCID
Mutual co-authors in cluster
5 papers
Recent·Most cited
- Genetic & Genomic MedicineNature AgingPeer-reviewed
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty
Jonathan K. L. Mak, Chenxi Qin, Moritz Krüger…·Ekaterina A. Khramtsova
This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.
5 citations - Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations
Ville Salo, Juhani H. Määttä, Eeva Sliz…·Jukka T. Koskela
This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.
14 citations - Genetic & Genomic MedicineJAMA CardiologyPeer-reviewed
GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function
Jaakko S. Tyrmi, Tea Kaartokallio, Anna Inkeri Lokki…·Arto Mannermaa
This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.
151 citationstop 1% - GeneticsbioRxiv
Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome
Alden Y Huang, Dongmei Yu, Lea K Davis…·Danielle C Cath
The paper identifies two rare copy number variants, NRXN1 and CNTN6, significantly increasing the risk of Tourette syndrome in a European ancestry sample.
DOI 10.1016/j.neuron.2017.06.010