Publications
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Filters: Keyword is Mutation and Author is Sutton, V Reid [Clear All Filters]
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 ;28(9):1243-1264.
. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 ;182(1):38-52.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a mutation. Cold Spring Harb Mol Case Stud. 2017 ;3(2):a000984.
. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ;94(5):784-9.
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