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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015 ;20(2):176-82.
. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 ;2(6):a001255.
. Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. Hum Mol Genet. 2023 ;32(6):1048-1060.
. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 ;543(7643):65-71.
. Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nat Genet. 2013 ;45(8):899-901.
. Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program. Genome Med. 2022 ;14(1):34.
. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 ;3(87):87re3.
. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 ;26(17):3442-3450.
. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 ;182(6):1387-1399.
. Working on the assembly line. Trends Biochem Sci. 1995 ;20(4):162-3.
. xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 ;12.
. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud. 2019 ;5(3).
. β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. J Immunol. 2024 ;212(6):962-973.
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