Publications

Export 120 results:
Author Title [ Year(Desc)]
Filters: First Letter Of Last Name is P  [Clear All Filters]
2017
Stitziel, N. O. et al. ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol 69, 2054-2063 (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).
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).
Battle, A., Brown, C. D., Engelhardt, B. E. & Montgomery, S. B. Genetic effects on gene expression across human tissues. Nature 550, 204-213 (2017).
Kim-Hellmuth, S. et al. Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations. Nat Commun 8, 266 (2017).
Kim-Hellmuth, S. et al. Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations. Nat Commun 8, 266 (2017).
Turner, T. N. et al. Genomic Patterns of De Novo Mutation in Simplex Autism. Cell 171, 710-722.e12 (2017).
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).
Posey, J. E. et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Posey, J. E. et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Rusu, V. et al. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell 170, 199-212.e20 (2017).
2018
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).
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).
Yuan, Y. et al. Cell type-specific CLIP reveals that NOVA regulates cytoskeleton interactions in motoneurons. Genome Biol 19, 117 (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).
Jiang, Y. et al. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A 176, 1315-1326 (2018).
Jiang, Y. et al. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A 176, 1315-1326 (2018).
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).
2019
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).
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).
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).
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).
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).
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).
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).
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).
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).
Punetha, J. et al. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol 6, 1395-1406 (2019).
Punetha, J. et al. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol 6, 1395-1406 (2019).
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).
Li, A. H. et al. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet 27, 563-573 (2019).
Posey, J. E. et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Posey, J. E. et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Connaughton, D. M. et al. Monogenic causes of chronic kidney disease in adults. Kidney Int 95, 914-928 (2019).
Donkervoort, S. et al. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol (2019). doi:10.1007/s00401-019-02059-z
Staretz-Chacham, O. et al. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A 179, 2112-2118 (2019).
Staretz-Chacham, O. et al. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A 179, 2112-2118 (2019).
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
Aldinger, K. A. et al. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).
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).
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).
2020
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).
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).
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).
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).
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).
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).
Biffi, A. et al. Combining Imaging and Genetics to Predict Recurrence of Anticoagulation-Associated Intracerebral Hemorrhage. Stroke 51, 2153-2160 (2020).
Sekar, S. et al. Complex mosaic structural variations in human fetal brains. Genome Res 30, 1695-1704 (2020).

Pages