Heather J Stalker

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

Assistant In Pediatrics

Department: Pediatric Genetics and Metabolism
Business Phone: (352) 294-5042
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

Research Profile

Open Researcher and Contributor ID (ORCID)

0000-0002-5712-7286

Publications

2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Annals of clinical and translational neurology. [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. [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. [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. [DOI] 10.1210/jc.2014-2605. [PMID] 25383892.
2011
A copy number variation morbidity map of developmental delay.
Nature genetics. [DOI] 10.1038/ng.909. [PMID] 21841781.
2011
Facial dysmorphism and digit anomalies in three siblings with severe developmental delay.
Clinical dysmorphology. [DOI] 10.1097/MCD.0b013e3283435174. [PMID] 21383553.
2011
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
American journal of medical genetics. Part A. [DOI] 10.1002/ajmg.a.33783. [PMID] 21204207.
2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Human mutation. [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. [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. [PMID] 18076119.
2008
Ethylmalonic Encephalopathy With a Novel Ethe1 Mutation Diagnosed On Newborn Screening.
Molecular Genetics and Metabolism.
2008
TFAP2A mutations result in branchio-oculo-facial syndrome.
American journal of human genetics. [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. [PMID] 16906561.
2006
Telegenetic medicine: improved access to services in an underserved area.
Journal of telemedicine and telecare. [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. [PMID] 15717285.
2004
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.
The Journal of pediatrics. [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. [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. [PMID] 12567405.
2001
A family with a grand-maternally derived interstitial duplication of proximal 15q.
Clinical genetics. [PMID] 11846734.
2001
Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy.
Clinical genetics. [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. [PMID] 11746016.
2001
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
Human genetics. [PMID] 11735026.
1999
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.
Genomics. [PMID] 10331943.
1998
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
Human mutation. [PMID] 10336779.
1998
Genetic counseling in Angelman syndrome: gonadal mosaicism.
American journal of medical genetics. [PMID] 9714017.
1998
Genetic counseling in Angelman syndrome: the challenges of multiple causes.
American journal of medical genetics. [PMID] 9557895.
1998
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
American journal of medical genetics. [PMID] 9557885.
1997
NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Human mutation. [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. [PMID] 9415678.
1996
Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?
American journal of medical genetics. [PMID] 8870920.
1995
Angelman syndrome.
Current problems in pediatrics. [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. [PMID] 8456853.
1993
Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome.
American journal of medical genetics. [PMID] 8465850.
1993
Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome?
American journal of medical genetics. [PMID] 8418638.
1993
Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome.
American journal of medical genetics. [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. [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. [PMID] 1519649.

Grants

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

Contact Details

Phones:
Business:
(352) 294-5042
Emails:
Addresses:
Business Mailing:
PO Box 100296
GAINESVILLE FL 32610
Business Street:
B2209 1699 SW 16th Ave.
GAINESVILLE FL 32610