Publications

• β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype. Moore T, Bernstein JA, Casson-Parkin S, Cowan TM. JIMD Rep. 2013: 7 77-9
• Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5' Splice Site Mutation (1084+1G>A): Case Report. Traynis I, Bernstein JA, Gardner P, Schrijver I. Cleft Palate Craniofac J. 2012; 49 (1): 104-8
• Newborn with Prenatally Diagnosed Choroidal Fissure Cyst and Panhypopituitarism and Review of the Literature Chitkara R, Rajani A, Bernstein J, Shah S, Hahn JS; Barnes P, Hintz SR. American Journal of Perinatology Reports. 2012: 1 111-114
• Rapid implementation of inpatient electronic physician documentation at an academic hospital. Hahn JS, Bernstein JA, McKenzie RB, King BJ, Longhurst CA. Appl Clin Inform. 2012; 3 (2): 175-85
• Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Hum Mutat. 2012; 33 (2): 316-26
• Underutilization of genetics services for autism: the importance of parental awareness and provider recommendation. Vande Wydeven K, Kwan A, Hardan AY, Bernstein JA. J Genet Couns. 2012; 21 (6): 803-13