Juvenile muscular atrophy of the distal upper extremities associated with X-linked periventricular heterotopia with features of Ehlers-Danlos syndrome. Hommel AL, Jewett T, Mortenson M, Caress JB.. Muscle Nerve. 2016;54(4):794-797.
Updated clinical guidelines for diagnosing fetal alcohol spectrum disorders. Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Jewett T, Coles CD, Chambers C, Jones KL, Adnams CM, Shah PE, Riley EP, Charness ME, Warren KR, May PA.. Pediatrics. 2016;138(2):e20154256.
De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. Kim JH, Shinde DN, Reijnders MR, Hauser NS, Belmonte RL, Wilson GR, Bosch DG, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CT, Draaisma JM, Nicolai J, Yntema HG, Lindstrom K, de Vries BB, Jewett T,.. Am J Hum Genet. 2016;99(3):711-719.
Expanding the phenotype of neural crest cell disorders: hirschsprung disease in branchio-oculo-facial syndrome [abstract]. Haldeman-Englert CR, Berry MN, Stamper TH, Jewett T, Argenta LC, Milunsky A.. Am J Med Genet A. 2015;167(8):1702-1703.
Kaufman oculocerebrofacial syndrome is caused by mutations in UBE3B and overlaps phenotypically with toriello-carey syndrome [abstract]. Jewett T, Mortenson M, Grange DK.. Am J Med Genet A. 2015;167(8):1724.
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Desir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G.. Hum Genet. 2014;133(7):939-949.
Genetics services and children with special health care needs. Mendelsohn NJ, Jewett T. In: Saul RA, ed. Medical genetics in pediatric practice. Elk Grove Village (IL): American Academy of Pediatrics;2013: 61-72.
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. Refai O, Friedman A, Terry L, Jewett T, Pearlman A, Perle MA, Ostrer H.. Am J Med Genet A. 2010;152A(2):422-426.
For a listing of recent publications, refer to PubMed, a service provided by the National Library of Medicine.
For a list of earlier publications, visit the Carpenter Library Publication Search.
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