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Jennifer Heeley
jheeley@wustl.edu
phone: (314) 454-6093
Education
BA,
Summa Cum Laude
,
Washington University in St. Louis
,
2003
MD,
Washington University in St. Louis School of Medicine
,
2009
Training
Pediatrics Residency, Washington University in St. Louis School of Medicine
,
2009
-
2012
Medical Genetics and Genomics Residency, Washington University in St. Louis School of Medicine
,
2012
-
2015
Foundation in Teaching Skills Program, Washington University in St. Louis School of Medicine
,
2021
Educational Skills Program, Washington University in St. Louis School of Medicine
,
2022
-
2022
Licensure and Board Certification
2012
-
Pres
MO, Medical license
2012
American Board of Pediatrics
2015
American Board of Medical Genetics and Genomics
2016
-
Pres
AR, Medical license
2016
-
Pres
OK, Medical license
2021
-
Pres
IL, Medical license
Recent Publications
view all (12)
Publication Co-Authors
Dustin Baldridge
Marwan Shinawi, M.D.
Ina E. Amarillo, PhD FACMG ErCLG
Linda Manwaring
Dorothy Katherine Grange, M.D.
Beth A. Kozel, M.D., Ph.D.
Abby Hollander, M.D.
Tomi L. Toler, MS, CGC
Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, Yang XJ, Côté J, Campeau PM.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Am J Hum Genet
.
2020;107
(3):
564-574.
PMID:
32822602
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B...Heeley J(author number 54)...Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Genet Med
.
2020;22
(7):
1215-1226.
PMID:
32376980
Torene RI, Galens K, Liu S, Arvai K, Borroto C, Scuffins J, Zhang Z, Friedman B, Sroka H, Heeley J, Beaver E, Clarke L, Neil S, Walia J, Hull D, Juusola J, Retterer K.
Mobile element insertion detection in 89,874 clinical exomes
Genet Med
.
2020;22
(5):
974-978.
PMID:
31965078
Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MN, Faivre L, Chung WK.
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants
Cold Spring Harb Mol Case Stud
.
2019;5
(4):
a004200.
PMID:
31167805
Heeley JM, Hollander AS, Austin PF, Merritt DF, Wesevich VG; Washington University School of Medicine in St Louis DSD Team, Amarillo IE.
Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience
J Pediatr Urol
.
2018;14
(2):
153.e1-153.e7.
PMID:
29157626
Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
J Med Genet
.
2018;55
(8):
561-566.
PMID:
28866611
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V... Heeley J(author number 15)... Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
Am J Hum Genet
.
2018;102
(1):
27-43.
PMID:
29276006
Shen W, Heeley JM, Carlston CM, Acuna-Hidalgo R, Nillesen WM, Dent KM, Douglas GV, Levine KL, Bayrak-Toydemir P, Marcelis CL, Shinawi M, Carey JC.
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies
Am J Med Genet A
.
2017;173
(11):
3022-3028.
PMID:
28941052
Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, Fiala E, Brown S, Goss CW, Willing M, Grange DK, Kozel BA, Shinawi M.
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
Genet Med
.
2017;19
(9):
1040-1048.
PMID:
28252636
Amarillo IE, Nievera I, Hagan A, Huchthagowder V, Heeley J, Hollander A, Koenig J, Austin P, Wang T.
Integrated small copy number variations and epigenome maps of disorders of sex development
Hum Genome Var
.
2016;3:16012.
PMID:
27340555
Heeley JM, Shinawi S.
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations
Am J Med Genet A
.
2015;167
(4):
816-820.
PMID:
25707956
Riley JK, Heeley JM, Wyman AH, Schlichting EL, Moley KH.
TRAIL and KILLER are expressed and induce apoptosis in the murine preimplantation embryo.
Biol Reprod
.
2004;71
(3):
871-877.
PMID:
15128592
Last updated: 03/21/2022
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