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Items: 1 to 20 of 151


Genetic Risk Factors for Folate-Responsive Neural Tube Defects.

Molloy AM, Pangilinan F, Brody LC.

Annu Rev Nutr. 2017 Jun 19. doi: 10.1146/annurev-nutr-071714-034235. [Epub ahead of print]


Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

Carter TC, Sicko RJ, Kay DM, Browne ML, Romitti PA, Edmunds ZL, Liu A, Fan R, Druschel CM, Caggana M, Brody LC, Mills JL.

J Hum Genet. 2017 May 25. doi: 10.1038/jhg.2017.56. [Epub ahead of print]


Moderately Elevated Homocysteine Does Not Contribute to Thoracic Aortic Aneurysm in Mice.

Roohi J, Kang B, Bernard D, Bedja D, Dietz HC, Brody LC.

J Nutr. 2017 Jul;147(7):1290-1295. doi: 10.3945/jn.117.251173. Epub 2017 May 24.


Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.

Samimi G, Bernardini MQ, Brody LC, Caga-Anan CF, Campbell IG, Chenevix-Trench G, Couch FJ, Dean M, de Hullu JA, Domchek SM, Drapkin R, Spencer Feigelson H, Friedlander M, Gaudet MM, Harmsen MG, Hurley K, James PA, Kwon JS, Lacbawan F, Lheureux S, Mai PL, Mechanic LE, Minasian LM, Myers ER, Robson ME, Ramus SJ, Rezende LF, Shaw PA, Slavin TP, Swisher EM, Takenaka M, Bowtell DD, Sherman ME.

J Clin Oncol. 2017 Jul 10;35(20):2329-2337. doi: 10.1200/JCO.2016.70.3439. Epub 2017 Apr 11.


Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing.

Marosy BA, Craig BD, Hetrick KN, Witmer PD, Ling H, Griffith SM, Myers B, Ostrander EA, Stanford JL, Brody LC, Doheny KF.

Curr Protoc Hum Genet. 2017 Jan 11;92:18.10.1-18.10.25. doi: 10.1002/cphg.27.


Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

Dimopoulos A, Sicko RJ, Kay DM, Rigler SL, Druschel CM, Caggana M, Browne ML, Fan R, Romitti PA, Brody LC, Mills JL.

Birth Defects Res. 2017 Jan 20;109(1):8-15. doi: 10.1002/bdra.23586.


Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

Dimopoulos A, Sicko RJ, Kay DM, Rigler SL, Fan R, Romitti PA, Browne ML, Druschel CM, Caggana M, Brody LC, Mills JL.

Am J Med Genet A. 2017 Feb;173(2):352-359. doi: 10.1002/ajmg.a.37868. Epub 2016 Nov 30.


Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

Sicko RJ, Browne ML, Rigler SL, Druschel CM, Liu G, Fan R, Romitti PA, Caggana M, Kay DM, Brody LC, Mills JL.

PLoS One. 2016 Oct 27;11(10):e0165174. doi: 10.1371/journal.pone.0165174. eCollection 2016.


Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.

Hagen EM, Sicko RJ, Kay DM, Rigler SL, Dimopoulos A, Ahmad S, Doleman MH, Fan R, Romitti PA, Browne ML, Caggana M, Brody LC, Shaw GM, Jelliffe-Pawlowski LL, Mills JL.

Hum Genet. 2016 Dec;135(12):1355-1364. Epub 2016 Sep 15.


Serum Immune System Biomarkers Neopterin and Interleukin-10 Are Strongly Related to Tryptophan Metabolism in Healthy Young Adults.

Deac OM, Mills JL, Gardiner CM, Shane B, Quinn L, Midttun Ø, McCann A, Meyer K, Ueland PM, Fan R, Lu Z, Brody LC, Molloy AM.

J Nutr. 2016 Sep;146(9):1801-6. doi: 10.3945/jn.116.230698. Epub 2016 Aug 3.


Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance.

Ozel AB, McGee B, Siemieniak D, Jacobi PM, Haberichter SL, Brody LC, Mills JL, Molloy AM, Ginsburg D, Li JZ, Desch KC.

J Thromb Haemost. 2016 Sep;14(9):1888-98. doi: 10.1111/jth.13401. Epub 2016 Aug 19.


A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.

Molloy AM, Pangilinan F, Mills JL, Shane B, O'Neill MB, McGaughey DM, Velkova A, Abaan HO, Ueland PM, McNulty H, Ward M, Strain JJ, Cunningham C, Casey M, Cropp CD, Kim Y, Bailey-Wilson JE, Wilson AF, Brody LC.

Am J Hum Genet. 2016 May 5;98(5):869-82. doi: 10.1016/j.ajhg.2016.03.005. Epub 2016 Apr 28.


Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay.

Sobczyńska-Malefora A, Pangilinan F, Plant GT, Velkova A, Harrington DJ, Molloy AM, Brody LC.

Eur J Clin Invest. 2016 May;46(5):434-9. doi: 10.1111/eci.12617. Epub 2016 Apr 15.


r2VIM: A new variable selection method for random forests in genome-wide association studies.

Szymczak S, Holzinger E, Dasgupta A, Malley JD, Molloy AM, Mills JL, Brody LC, Stambolian D, Bailey-Wilson JE.

BioData Min. 2016 Feb 1;9:7. doi: 10.1186/s13040-016-0087-3. eCollection 2016.


Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.

VanderMeer JE, Carter TC, Pangilinan F, Mitchell A, Kurnat-Thoma E, Kirke PN, Troendle JF, Molloy AM, Munger RG, Feldkamp ML, Mansilla MA, Mills JL, Murray JC, Brody LC.

Am J Med Genet A. 2016 Apr;170A(4):1007-16. doi: 10.1002/ajmg.a.37539. Epub 2016 Jan 20.


Rare copy number variants implicated in posterior urethral valves.

Boghossian NS, Sicko RJ, Kay DM, Rigler SL, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Druschel CM, Romitti PA, Browne ML, Fan R, Liu A, Brody LC, Mills JL.

Am J Med Genet A. 2016 Mar;170(3):622-33. doi: 10.1002/ajmg.a.37493. Epub 2015 Dec 14.


The Dihydrofolate Reductase 19 bp Polymorphism Is Not Associated with Biomarkers of Folate Status in Healthy Young Adults, Irrespective of Folic Acid Intake.

Ozaki M, Molloy AM, Mills JL, Fan R, Wang Y, Gibney ER, Shane B, Brody LC, Parle-McDermott A.

J Nutr. 2015 Oct;145(10):2207-11. doi: 10.3945/jn.115.216101. Epub 2015 Aug 12.


Common Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5'-Phosphate Concentration in Healthy Adults.

Carter TC, Pangilinan F, Molloy AM, Fan R, Wang Y, Shane B, Gibney ER, Midttun Ø, Ueland PM, Cropp CD, Kim Y, Wilson AF, Bailey-Wilson JE, Brody LC, Mills JL.

J Nutr. 2015 Jul;145(7):1386-93. doi: 10.3945/jn.114.208769. Epub 2015 May 13.


Tryptophan catabolism and vitamin B-6 status are affected by gender and lifestyle factors in healthy young adults.

Deac OM, Mills JL, Shane B, Midttun Ø, Ueland PM, Brosnan JT, Brosnan ME, Laird E, Gibney ER, Fan R, Wang Y, Brody LC, Molloy AM.

J Nutr. 2015 Apr;145(4):701-7. doi: 10.3945/jn.114.203091. Epub 2015 Feb 18.


Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women.

Kurnat-Thoma EL, Pangilinan F, Matteini AM, Wong B, Pepper GA, Stabler SP, Guralnik JM, Brody LC.

Biol Res Nurs. 2015 Jul;17(4):444-54. doi: 10.1177/1099800415569506. Epub 2015 Feb 5.


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