Genome-wide association study identifies 30 loci associated with bipolar disorder
2019· review· en· Nature Genetics· Biochemistry, Genetics and Molecular Biology
afffund
1,627
citations
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Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders
2018· article· en· Nature Neuroscience· Biochemistry, Genetics and Molecular Biology
affno abstract
711
citations
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
2021· article· en· Nature Genetics· Neuroscience
afffund
481
citations
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease
2016· article· en· Nature Genetics· Medicine
afffundno abstract
382
citations
GA4GH: International policies and standards for data sharing across genomic research and healthcare
2021· article· en· Cell Genomics· Biochemistry, Genetics and Molecular Biology
afffund
294
citations
Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy
2019· article· en· Frontiers in Genetics· Biochemistry, Genetics and Molecular Biology
aff
281
citations
Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight
2019· article· en· Genome biology· Biochemistry, Genetics and Molecular Biology
fundno aff
235
citations
Systematic Identification of Factors for Provirus Silencing in Embryonic Stem Cells
2015· article· en· Cell· Biochemistry, Genetics and Molecular Biology
affno abstract
223
citations
The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls
2019· review· en· Biological Psychiatry· Biochemistry, Genetics and Molecular Biology
fundno aff
210
citations
Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism
2016· review· en· Brain· Medicine
aff
142
citations
Homologous recombination into the eosinophil peroxidase locus generates a strain of mice expressing Cre recombinase exclusively in eosinophils
2013· article· en· Journal of Leukocyte Biology· Medicine
afffund
109
citations
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
2019· article· en· Journal of Clinical Investigation· Biochemistry, Genetics and Molecular Biology
afffund
106
citations
Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation
2023· review· en· Nature Genetics· Medicine
afffund
89
citations
A noncoding single-nucleotide polymorphism at 8q24 drives IDH1 -mutant glioma formation
2022· article· en· Science· Medicine
afffund
69
citations
Young Adult Smoking Cessation: Predictors of Quit Attempts and Abstinence
2013· article· en· American Journal of Public Health· Medicine
afffundabout
65
citations
Mapping the genetic landscape across 14 psychiatric disorders
2025· article· en· Nature· Biochemistry, Genetics and Molecular Biology
afffund
62
citations
Early-onset Parkinson's disease due to PINK1 p.Q456X mutation – Clinical and functional study
2014· article· en· Parkinsonism & Related Disorders· Medicine
fundno affno abstract
57
citations
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
2021· article· en· Cell Genomics· Biochemistry, Genetics and Molecular Biology
aff
56
citations
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
2019· article· en· The American Journal of Human Genetics· Biochemistry, Genetics and Molecular Biology
afffundno abstract
55
citations
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
2021· article· en· Neurology Genetics· Medicine
fundno aff
43
citations
Wearable Technologies for Detecting Burnout and Well-Being in Health Care Professionals: Scoping Review
2024· review· en· Journal of Medical Internet Research· Health Professions
aboutno aff
41
citations
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features
2018· article· en· Frontiers in Neurology· Medicine
aff
39
citations
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
2019· article· en· Genetics in Medicine· Biochemistry, Genetics and Molecular Biology
affno abstract
38
citations
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants
2018· article· en· European Journal of Human Genetics· Biochemistry, Genetics and Molecular Biology
affno abstract
31
citations
Oncogenic gene expression and epigenetic remodeling of cis-regulatory elements in ASXL1-mutant chronic myelomonocytic leukemia
2022· article· en· Nature Communications· Medicine
aff
30
citations