Publications

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Author [ Title(Desc)] Year
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A
Flex, E. et al. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Liu, Y. et al. ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies. Am J Hum Genet 104, 410-421 (2019).
Wenger, A. M. et al. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol 37, 1155-1162 (2019).
Sedlazeck, F. J. et al. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods 15, 461-468 (2018).
Yun, T. et al. Accurate, scalable cohort variant calls using DeepVariant and GLnexus. Bioinformatics (2021). doi:10.1093/bioinformatics/btaa1081
Pirruccello, J. P. et al. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun 11, 2254 (2020).
Emdin, C. A. et al. Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. Nat Commun 9, 1613 (2018).
Tusso, S. et al. Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast. Mol Biol Evol 36, 1975-1989 (2019).
Stitziel, N. O. et al. ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol 69, 2054-2063 (2017).
Emdin, C. A. et al. Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene-Environment Interaction Study. Gastroenterology 160, 1620-1633.e13 (2021).
Patel, A. P. et al. Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open 3, e203959 (2020).
Chen, L. et al. Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet 108, 583-596 (2021).
Chiang, T. et al. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med 21, 2135-2144 (2019).
B
Karaca, E. et al. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A 179, 2056-2066 (2019).
Punetha, J. et al. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol 6, 1395-1406 (2019).
van Karnebeek, C. D. M. et al. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. Am J Hum Genet 105, 534-548 (2019).
C
Young, E. P. & Stitziel, N. O. Capitalizing on Insights from Human Genetics to Identify Novel Therapeutic Targets for Coronary Artery Disease. Annu Rev Med 70, 19-32 (2019).
Murphy, M. P. et al. Cardioembolic Stroke Risk and Recovery After Anticoagulation-Related Intracerebral Hemorrhage. Stroke 49, 2652-2658 (2018).
Yuan, Y. et al. Cell type-specific CLIP reveals that NOVA regulates cytoskeleton interactions in motoneurons. Genome Biol 19, 117 (2018).
Kim-Hellmuth, S. et al. Cell type-specific genetic regulation of gene expression across human tissues. Science 369, (2020).
Costello, M. et al. Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms. BMC Genomics 19, 332 (2018).
Sanghvi, R. V. et al. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20, 855-866 (2018).
Garg, S. et al. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol 39, 309-312 (2021).
Biffi, A. et al. Combining Imaging and Genetics to Predict Recurrence of Anticoagulation-Associated Intracerebral Hemorrhage. Stroke 51, 2153-2160 (2020).
Walker, R. W. et al. A common variant in PNPLA3 is associated with age at diagnosis of NAFLD in patients from a multi-ethnic biobank. J Hepatol 72, 1070-1081 (2020).
Sabo, A. et al. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med 8, e1439 (2020).
Sekar, S. et al. Complex mosaic structural variations in human fetal brains. Genome Res 30, 1695-1704 (2020).
Nattestad, M. et al. Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res 28, 1126-1135 (2018).
Kim-Hellmuth, S. & Lappalainen, T. Concerted Genetic Function in Blood Traits. Cell 167, 1167-1169 (2016).
Brasó-Vives, M. et al. Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genet 16, e1008742 (2020).
Khera, A. V. & Kathiresan, S. Is Coronary Atherosclerosis One Disease or Many? Setting Realistic Expectations for Precision Medicine. Circulation 135, 1005-1007 (2017).
Hwang, H. - W. et al. cTag-PAPERCLIP Reveals Alternative Polyadenylation Promotes Cell-Type Specific Protein Diversity and Shifts Araf Isoforms with Microglia Activation. Neuron 95, 1334-1349.e5 (2017).
D
Li, C. et al. dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions. Hum Mutat 41, 1123-1130 (2020).
Demanelis, K. et al. Determinants of telomere length across human tissues. Science 369, (2020).
Xavier, C. et al. Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA. Forensic Sci Int Genet 48, 102336 (2020).
Jereb, S. et al. Differential 3' Processing of Specific Transcripts Expands Regulatory and Protein Diversity Across Neuronal Cell Types. Elife 7, (2018).
Saito, Y. et al. Differential NOVA2-Mediated Splicing in Excitatory and Inhibitory Neurons Regulates Cortical Development and Cerebellar Function. Neuron 101, 707-720.e5 (2019).
Weissensteiner, M. H. et al. Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
Lu, H. - C. et al. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet 49, 527-536 (2017).
Martin, S. et al. Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy. Front Neurol 10, 946 (2019).
E
Rubinacci, S., Ribeiro, D. M., Hofmeister, R. J. & Delaneau, O. Efficient phasing and imputation of low-coverage sequencing data using large reference panels. Nat Genet 53, 120-126 (2021).
Stitziel, N. O., Kanter, J. E. & Bornfeldt, K. E. Emerging Targets for Cardiovascular Disease Prevention in Diabetes. Trends Mol Med 26, 744-757 (2020).
Zeng, X. et al. EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease. Trends Mol Med 25, 265-286 (2019).
Niestroj, L. - M. et al. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain 143, 2106-2118 (2020).
Leija-Salazar, M. et al. Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. Mol Genet Genomic Med 7, e564 (2019).
Palencia-Madrid, L. et al. Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System. Genes (Basel) 11, (2020).
Sabo, A. et al. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring) 25, 1270-1276 (2017).
Akçimen, F. et al. Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. Mov Disord 36, 514-518 (2021).
F
Huang, Y. - F., Gulko, B. & Siepel, A. Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data. Nat Genet 49, 618-624 (2017).
Xavier, C. et al. Forensic evaluation of the Asia Pacific ancestry-informative MAPlex assay. Forensic Sci Int Genet 48, 102344 (2020).

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