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
2023-2024
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:
- Business:
- stalkhj@peds.ufl.edu
Addresses:
- Business Mailing:
-
PO Box 100296
GAINESVILLE FL 32610 - Business Street:
-
B2209 1699 SW 16th Ave.
GAINESVILLE FL 32610