Publications
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Filters: Keyword is Adolescent and Author is Liu, Pengfei [Clear All Filters]
Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 ;185(5):1388-1398.
. 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.
. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med. 2020 ;8(1):e1023.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 ;99(2):318-36.
. . X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 ;22(3):353-67.
. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 ;371(25):2363-74.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
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