Publications
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Filters: Author is Eng, Christine and Keyword is Phenotype [Clear All Filters]
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 ;170(8):2206-11.
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