Jon Bernstein

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
• Ectopia lentis as the presenting and primary feature in Marfan syndrome. Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Am J Med Genet A. 2011; 155A (11): 2661-8
• Familial cardiac valvulopathy due to filamin A mutation. Bernstein JA, Bernstein D, Hehr U, Hudgins L. Am J Med Genet A. 2011; 155A (9): 2236-41
• Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex. Niemi AK, Northrup H, Hudgins L, Bernstein JA. Am J Med Genet A. 2011; 155A (10): 2534-7
• Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Paşca SP, Portmann T, Voineagu I, Yazawa M, Shcheglovitov A, Paşca AM, Cord B, Palmer TD, Chikahisa S, Nishino S, Bernstein JA, Hallmayer J, Geschwind DH, Dolmetsch RE. Nat Med. 2011; 17 (12): 1657-62
• Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Yazawa M, Hsueh B, Jia X, Pasca AM, Bernstein JA, Hallmayer J, Dolmetsch RE. Nature. 2011; 471 (7337): 230-4
• Clues to an early diagnosis of Kallmann syndrome. Kaplan JD, Bernstein JA, Kwan A, Hudgins L. Am J Med Genet A. 2010; 152A (11): 2796-801
• Improved physician work flow after integrating sign-out notes into the electronic medical record. Bernstein JA, Imler DL, Sharek P, Longhurst CA. Jt Comm J Qual Patient Saf. 2010; 36 (2): 72-8
• Index of suspicion. Zadeh N, Bernstein JA, Stiasny D, Callaghan MU, Flores CE, Tytko JM, Mannarino FP, Moore J. Pediatr Rev. 2010; 31 (4): 167-72
• Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. J Pediatr. 2010; 157 (2): 271-5
• Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. J Pediatr. 2009; 154 (4): 551-6
• Genomic analysis of mRNA decay in E. coli with DNA microarrays. Lin PH, Singh D, Bernstein JA, Lin-Chao S. Methods Enzymol. 2008: 447 47-64
• Global analysis of Escherichia coli RNA degradosome function using DNA microarrays. Bernstein JA, Lin PH, Cohen SN, Lin-Chao S. Proc Natl Acad Sci U S A. 2004; 101 (9): 2758-63
• Escherichia coli spotted double-strand DNA microarrays: RNA extraction, labeling, hybridization, quality control, and data management. Khodursky AB, Bernstein JA, Peter BJ, Rhodius V, Wendisch VF, Zimmer DP. Methods Mol Biol. 2003: 224 61-78
• Life after transcription--revisiting the fate of messenger RNA. Khodursky AB, Bernstein JA. Trends Genet. 2003; 19 (3): 113-5
• Global analysis of mRNA decay and abundance in Escherichia coli at single-gene resolution using two-color fluorescent DNA microarrays. Bernstein JA, Khodursky AB, Lin PH, Lin-Chao S, Cohen SN. Proc Natl Acad Sci U S A. 2002; 99 (15): 9697-702
• RNase G complementation of rne null mutation identifies functional interrelationships with RNase E in Escherichia coli. Lee K, Bernstein JA, Cohen SN. Mol Microbiol. 2002; 43 (6): 1445-56
• Use of traditional medicine in Mongolia: a survey. Bernstein JA, Stibich MA, LeBaron S. Complement Ther Med. 2002; 10 (1): 42-5