Publications
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Filters: Keyword is Exome and Author is Liu, Pengfei [Clear All Filters]
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. Hum Mutat. 2022 ;43(12):1816-1823.
. . Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 ;58(1):41-47.
. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics. 2021 ;48(5):396-402.
. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg. 2020 ;12(2):221-226.
. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 ;22(11):1768-1776.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD). J Hum Genet. 2018 ;63(11):1119-1128.
. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 ;9(1):26.
. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 ;376(1):21-31.
. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 ;171(12):e173438.
. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 ;98(2):347-57.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
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