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(352) 294-5050

Heather J Stalker, MSc, CGC

Licensed Certified Genetic Counselor

Photo of Heather J Stalker

Research at a glance

Top areas of exploration

  • Pedigree , 11 publications
  • Abnormalities, Multiple , 11 publications
  • Phenotype , 8 publications
  • Syndrome , 7 publications

Research activity

38 publications

1,983 citations

Why is this important?

My publications

38 publications

2023

Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine.

Pediatric pulmonology

PubMed • Publisher's site

2022

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.

Annals of clinical and translational neurology

PubMed • Publisher's site

2018

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

American journal of medical genetics. Part A

PubMed • Publisher's site

2016

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

American journal of medical genetics. Part A

PubMed • Publisher's site

2015

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

The Journal of clinical endocrinology and metabolism

PubMed • Publisher's site