Specialties
Board Certification
|
American Society for Clinical Pathology (Technologist in Molecular Biology)
American Board of Genetic Counseling
|
Board Certification and Academic Information
| Academic Departments |
Pediatrics
-Assistant Professor (Clinical) |
|---|---|
| Academic Divisions |
Medical Genetics
|
| Board Certification |
American Society for Clinical Pathology (Technologist in Molecular Biology)
American Board of Genetic Counseling
|
Education history
| Undergraduate | Biology - College of Idaho | B.S. |
|---|---|---|
| Graduate Training | Genetic Counseling - California State University, Northridge | M.S. |
Selected Publications
Journal Article
- Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin (2024). De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632(8026), 832-840.
- Herriges JC, Arch EM, Burgio PA, Baldwin EE, LaGrave D, Lamb AN, Toydemir R (2019). Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature. Journal of child neurology, 34(2), 86-93.
- Palmer CG, Boudreault P, Baldwin EE, Sinsheimer J (2014). Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study. PloS one, 9(11), e111512.
- Chidsey BA, Baldwin EE, Toydemir R, Ahles L, Hanson H, Stevenson D (2014). L1CAM whole gene deletion in a child with L1 syndrome. American journal of medical genetics. Part A, 164A(6), 1555-8.
- Andersen EF, Baldwin EE, Ellingwood S, Smith R, Lamb A (2014). Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability. American journal of medical genetics. Part A, 164A(7), 1795-801.
- Miller CE, Krautscheid P, Baldwin EE, Tvrdik T, Openshaw AS, Hart K, Lagrave (2014). Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. American journal of medical genetics. Part A, 164A(5), 1094-101.
- Sdano MR, Vanzo RJ, Martin MM, Baldwin EE, South ST, Rope AF, Allen WP, Kearney (2014). Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients. Journal of genetic counseling, 23(6), 922-7.
- Palmer CG, Boudreault P, Baldwin EE, Fox M, Deignan JL, Kobayashi Y, Sininger Y, Grody W, Sinsheimer J (2013). Deaf genetic testing and psychological well-being in deaf adults. Journal of genetic counseling, 22(4), 492-507.
- Baldwin EE, Boudreault P, Fox M, Sinsheimer JS, Palmer C (2012). Effect of pre-test genetic counseling for deaf adults on knowledge of genetic testing. Journal of genetic counseling, 21(2), 256-72.
- Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera (2011). Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. American journal of medical genetics. Part A, 155A(11), 2871-8.
- Rosser T, Muir J, Panigrahy A, Baldwin EE, Boles R (2010). Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease. Journal of child neurology, 25(8), 1013-6.
- Boudreault P, Baldwin EE, Fox M, Dutton L, Tullis L, Linden J, Kobayashi Y, Zhou J, Sinsheimer JS, Sininger Y, Grody WW, Palmer C (2010). Deaf adults' reasons for genetic testing depend on cultural affiliation: results from a prospective, longitudinal genetic counseling and testing study. Journal of deaf studies and deaf education, 15(3), 209-27.
- Zaki EA, Freilinger T, Klopstock T, Baldwin EE, Heisner KR, Adams K, Dichgans M, Wagler S, Boles R (2009). Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome. Cephalalgia, 29(7), 719-28.
- Higashimoto T, Baldwin EE, Gold JI, Boles R (2008). Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance. Archives of disease in childhood, 93(5), 390-7.
- Boles RG, Baldwin EE, Prezant T (2007). Combined cyclic vomiting and Kearns-Sayre syndromes. Pediatric neurology, 36(2), 135-6.
- Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen W (2007). Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology (Baltimore, Md.), 46(4), 1218-27.
Letter
- Damjanovich K, Baldwin EE, Lewis T, Bayrak-Toydemir (2013). Novel homozygous CYP1B1 deletion in siblings with primary congenital glaucoma. Ophthalmic genetics, 34(3), 180-1.