Nicole J Boczek

Publication Activity (10 Years)

Years Active: 2017-2018
Publications (10 Years): 4

Top Topics

Myasthenia Gravis

Obstructive Sleep Apnea

Neoadjuvant Chemotherapy

Top Venues

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Nicole J Boczek, Carrie A Lahner, Thuy-Mi Nguyen, Matthew J Ferber, Linda Hasadsri, Erik C Thorland, Zhiyv Niu, Ralitza H Gavrilova
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2). American journal of medical genetics. Part A 176 (12) (2018)
Margot A Cousin, Eric T Matey, Patrick R Blackburn, Nicole J Boczek, Tammy M McAllister, Teresa M Kruisselbrink, Dusica Babovic-Vuksanovic, Konstantinos N Lazaridis, Eric W Klee
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients. Molecular genetics & genomic medicine 5 (3) (2017)
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. Molecular genetics & genomic medicine 5 (3) (2017)
Nicole J Boczek, Teresa Kruisselbrink, Margot A Cousin, Patrick R Blackburn, Eric W Klee, Ralitza H Gavrilova, Brendan C Lanpher
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. American journal of medical genetics. Part A 173 (5) (2017)