Heather J Stalker

Heather J Stalker, M.Sc.,C.G.C

Genetic Counselor, Assistant In Pediatrics

Department: Pediatric Genetics and Metabolism
Business Phone: (352) 294-5050
Business Email: stalkhj@peds.ufl.edu

About Heather J Stalker

Ms. Stalker is responsible for provision of genetic counseling services to children seen in the craniofacial clinic. She performs the primary genetic screening and arranges for genetic testing and/or referral to genetics clinic when appropriate. She has an interest in the genetics of craniofacial and clefting conditions.

Teaching Profile

Courses Taught
2012
DEN6934 Special Topics in Dentistry
2023-2025
BMS6003 Genetics and Health

Clinical Profile

Specialties
  • Licensed Certified Genetic Counselor
Areas of Interest
  • Genetics

Research Profile

Open Researcher and Contributor ID (ORCID)

0000-0002-5712-7286

Publications

2023
Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine.
Pediatric pulmonology. 58(12):3478-3486 [DOI] 10.1002/ppul.26678. [PMID] 37712603.
2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Annals of clinical and translational neurology. 9(8):1302-1309 [DOI] 10.1002/acn3.51612. [PMID] 35734998.
2018
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
American journal of medical genetics. Part A. 176(4):945-950 [DOI] 10.1002/ajmg.a.38648. [PMID] 29575629.
2016
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
American journal of medical genetics. Part A. 170A(4):967-77 [DOI] 10.1002/ajmg.a.37519. [PMID] 26692240.
2015
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
The Journal of clinical endocrinology and metabolism. 100(2):E333-44 [DOI] 10.1210/jc.2014-2605. [PMID] 25383892.
2011
A copy number variation morbidity map of developmental delay.
Nature genetics. 43(9):838-46 [DOI] 10.1038/ng.909. [PMID] 21841781.
2011
Facial dysmorphism and digit anomalies in three siblings with severe developmental delay.
Clinical dysmorphology. 20(2):92-94 [DOI] 10.1097/MCD.0b013e3283435174. [PMID] 21383553.
2011
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
American journal of medical genetics. Part A. 155A(1):22-32 [DOI] 10.1002/ajmg.a.33783. [PMID] 21204207.
2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Human mutation. 31(10):1142-54 [DOI] 10.1002/humu.21328. [PMID] 20672375.
2009
Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
American journal of medical genetics. Part A. 149A(2):262-5 [DOI] 10.1002/ajmg.a.32512. [PMID] 19133694.
2008
A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development.
American journal of medical genetics. Part A. 146A(2):204-7 [PMID] 18076119.
2008
Ethylmalonic Encephalopathy With a Novel Ethe1 Mutation Diagnosed On Newborn Screening.
Molecular Genetics and Metabolism. 93
2008
TFAP2A mutations result in branchio-oculo-facial syndrome.
American journal of human genetics. 82(5):1171-7 [DOI] 10.1016/j.ajhg.2008.03.005. [PMID] 18423521.
2006
High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.
American journal of medical genetics. Part A. 140(18):1950-4 [PMID] 16906561.
2006
Telegenetic medicine: improved access to services in an underserved area.
Journal of telemedicine and telecare. 12(4):182-5 [PMID] 16774698.
2005
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.
American journal of human genetics. 76(4):663-71 [PMID] 15717285.
2004
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.
The Journal of pediatrics. 145(4) [PMID] 15480389.
2003
Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
American journal of medical genetics. Part A. 116A(2):176-8 [PMID] 12494438.
2003
Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.
American journal of medical genetics. Part A. 117A(2):105-11 [PMID] 12567405.
2001
A family with a grand-maternally derived interstitial duplication of proximal 15q.
Clinical genetics. 60(6):421-30 [PMID] 11846734.
2001
Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy.
Clinical genetics. 59(4):248-56 [PMID] 11298680.
2001
Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects.
American journal of medical genetics. 103(4):339-41 [PMID] 11746016.
2001
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
Human genetics. 109(5):512-20 [PMID] 11735026.
1999
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.
Genomics. 58(1):34-40 [PMID] 10331943.
1998
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
Human mutation. 11(5) [PMID] 10336779.
1998
Genetic counseling in Angelman syndrome: gonadal mosaicism.
American journal of medical genetics. 78(5) [PMID] 9714017.
1998
Genetic counseling in Angelman syndrome: the challenges of multiple causes.
American journal of medical genetics. 77(1):54-9 [PMID] 9557895.
1998
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
American journal of medical genetics. 77(1):8-11 [PMID] 9557885.
1997
NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Human mutation. 9(6):548-54 [PMID] 9195229.
1997
Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome?
American journal of medical genetics. 73(3):247-50 [PMID] 9415678.
1996
Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?
American journal of medical genetics. 64(4):546-50 [PMID] 8870920.
1995
Angelman syndrome.
Current problems in pediatrics. 25(7):216-31 [PMID] 8521718.
1993
Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.
American journal of medical genetics. 45(6):739-42 [PMID] 8456853.
1993
Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome.
American journal of medical genetics. 45(4):456-9 [PMID] 8465850.
1993
Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome?
American journal of medical genetics. 45(1):1-4 [PMID] 8418638.
1993
Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome.
American journal of medical genetics. 45(3):297-9 [PMID] 8123061.
1992
Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome?
American journal of medical genetics. 44(5):567-72 [PMID] 1481810.
1992
Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation?
American journal of medical genetics. 44(1):46-7 [PMID] 1519649.

Grants

Dec 2009 ACTIVE
LSD Registry Program
Role: Other
Funding: GENZYME CORP

Contact Details

Phones:
Business:
(352) 294-5050
Emails:
Addresses:
Business Mailing:
PO Box 100296
GAINESVILLE FL 32610
Business Street:
B2209 1699 SW 16th Ave.
GAINESVILLE FL 32610