Publications

Export 144 results:
Author [ Title(Desc)] Year
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N
Schulze, K. V. et al. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics 11, 60 (2019).
O
T Ranallo-Benavidez, R. et al. Optimized sample selection for cost-efficient long-read population sequencing. Genome Res 31, 910-918 (2021).
P
Grenn, F. P. et al. The Parkinson's Disease Genome-Wide Association Study Locus Browser. Mov Disord 35, 2056-2067 (2020).
Zarate, S. et al. Parliament2: Accurate structural variant calling at scale. Gigascience 9, (2020).
Bryen, S. J. et al. Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. Am J Hum Genet 105, 573-587 (2019).
Majidian, S. & Sedlazeck, F. J. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience 9, (2020).
Khayat, M. M. et al. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat 42, 577-591 (2021).
Montenegro-Garreaud, X. et al. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
Jiang, Y. et al. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A 176, 1315-1326 (2018).
Ilumäe, A. - M. et al. Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes. Eur J Hum Genet (2021). doi:10.1038/s41431-021-00897-8
Pinard, A. et al. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. Genet Med (2019). doi:10.1038/s41436-019-0639-2
Fahed, A. C. et al. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
Natarajan, P. et al. Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting. Circulation 135, 2091-2101 (2017).
Morrison, A. C. et al. Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet 100, 205-215 (2017).
Q
Mohammadi, P., Castel, S. E., Brown, A. A. & Lappalainen, T. Quantifying the regulatory effect size of -acting genetic variation using allelic fold change. Genome Res 27, 1872-1884 (2017).
R
Alonge, M. et al. RaGOO: fast and accurate reference-guided scaffolding of draft genomes. Genome Biol 20, 224 (2019).
Shen, F. & Kidd, J. M. Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. Genes (Basel) 11, (2020).
Aldinger, K. A. et al. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).
Posey, J. E. et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Orange, D. E. et al. RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. N Engl J Med 383, 218-228 (2020).
S
Chen, G. - C. et al. Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Am J Clin Nutr 112, 57-65 (2020).
Stoeckius, M. et al. Simultaneous epitope and transcriptome measurement in single cells. Nat Methods 14, 865-868 (2017).
Chen, X. et al. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med 22, 945-953 (2020).
Mahmoud, M. et al. Structural variant calling: the long and the short of it. Genome Biol 20, 246 (2019).
Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
Jung, I. - H. et al. SVEP1 is a human coronary artery disease locus that promotes atherosclerosis. Sci Transl Med 13, (2021).
Ganel, L., Abel, H. J. & Hall, I. M. SVScore: an impact prediction tool for structural variation. Bioinformatics 33, 1083-1085 (2017).
Larson, D. E. et al. svtools: population-scale analysis of structural variation. Bioinformatics 35, 4782-4787 (2019).
T
Pirruccello, J. P. et al. Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
De Coster, W., Weissensteiner, M. H. & Sedlazeck, F. J. Towards population-scale long-read sequencing. Nat Rev Genet 22, 572-587 (2021).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Fahed, A. C. et al. Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease. Circ Genom Precis Med 14, e003092 (2021).
Sajuthi, S. P. et al. Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Sajuthi, S. P. et al. Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Rusu, V. et al. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell 170, 199-212.e20 (2017).
U
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. Am J Hum Genet 105, 267-282 (2019).
V
Wang, M. et al. Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians. J Am Coll Cardiol 76, 703-714 (2020).
Biddanda, A., Rice, D. P. & Novembre, J. A variant-centric perspective on geographic patterns of human allele frequency variation. Elife 9, (2020).
Castel, S. E., Aguet, F., Mohammadi, P., Ardlie, K. G. & Lappalainen, T. A vast resource of allelic expression data spanning human tissues. Genome Biol 21, 234 (2020).
W
Khera, A. V. & Hegele, R. A. What Is Familial Hypercholesterolemia, and Why Does It Matter?. Circulation 141, 1760-1763 (2020).
Minardi, R. et al. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin Genet 98, 477-485 (2020).
Somineni, H. K. et al. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
C Y Mak, A. et al. Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med 197, 1552-1564 (2018).
Khera, A. V. et al. Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. Circulation 139, 1593-1602 (2019).

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