Publications
DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. Nat Commun. 2022 ;13(1):2408.
. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. Nat Commun. 2022 ;13(1):2408.
. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. Nat Commun. 2022 ;13(1):2408.
. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. Nat Commun. 2022 ;13(1):2408.
. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. Nat Commun. 2022 ;13(1):2408.
. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. Nat Commun. 2022 ;13(1):2408.
. The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A. 2022 ;119(4).
. The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A. 2022 ;119(4).
. The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A. 2022 ;119(4).
. The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A. 2022 ;119(4).
. The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A. 2022 ;119(4).
. An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 ;7(23).
. An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 ;7(23).
. An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 ;7(23).
. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 ;101(5-6):530-540.
. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 ;101(5-6):530-540.
. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 ;101(5-6):530-540.
. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med. 2022 ;7(1):11.
. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 ;188(2):648-657.
. EYS-Associated Sector Retinitis Pigmentosa. Graefes Arch Clin Exp Ophthalmol. 2022 ;260(4):1405-1413.
. EYS-Associated Sector Retinitis Pigmentosa. Graefes Arch Clin Exp Ophthalmol. 2022 ;260(4):1405-1413.
. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
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