Nicole J Boczek
4PUBLICATIONS
4CO-AUTHORS
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Publications (4)
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|Oct 23, 2018
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).Nicole J Boczek, Carrie A Lahner, Thuy-Mi Nguyen
|May 27, 2017
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.Patrick R Blackburn, Duygu Selcen, Jennifer M Gass
|May 27, 2017
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.Margot A Cousin, Eric T Matey, Patrick R Blackburn
|Mar 22, 2017
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.Nicole J Boczek, Teresa Kruisselbrink, Margot A Cousin
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