Publications

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Author Title [ Year(Asc)]
Filters: Author is Posey, Jennifer E and Keyword is Exome  [Clear All Filters]
2020
Ding, X. et al. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Gambin, T. et al. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med 22, 1768-1776 (2020).
Batzir, N. Assia et al. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A 182, 38-52 (2020).
2019
Yuan, B. et al. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
Liu, P. et al. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480 (2019).
2017
Eldomery, M. K. et al. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
Posey, J. E. et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
2016
Charng, W. - L. et al. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics 9, 42 (2016).
Posey, J. E. et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med 18, 678-85 (2016).
White, J. et al. POGZ truncating alleles cause syndromic intellectual disability. Genome Med 8, 3 (2016).