Donna Bernstein, MS, CGC – List of Publications

Jones SA, Bernstein DL, Bialer MG, Dhawan A, Hendriksz JC, Whitley CB, et al. Severe And Rapid Disease Course in the Natural History Of Infants with Lysosomal Acid Lipase Deficiency. Mol Genet Metab 2014;111:S57e8.

Bernstein DL, Edelman M, Alexis C, Bialer MG, Levine J, JE, Desnick RJ,  Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22 years. Molecular Genetics and Metabolism, Volume 111, Issue 2, Pages S1-S118, 61-214 (February 2014) Pages S25-S26.

Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl Ester Storage Disease: Review Of The Findings In 135 Reported Patients With An Underdiagnosed Disease. J Hepatol. 2013 Jun;58(6):1230-43. doi: 10.1016/j.jhep.2013.02.014. Epub 2013 Feb 26. PMID: 23485521

Bernstein DL, Desnick RJ , Cholesteryl Ester Storage Disease (CESD): An Under-Recognized and Treatable LSD with Liver Dysfunction/Failure And Dyslipidemia. Molecular Genetics and Metabolism, Volume 108, Issue 2, Pages S1-S102, 109-148 (February 2013)Page S24.

Bernstein DL, Bialer MG, Mehta L, Desnick RJ.Pompe Disease: Dramatic Improvement In Gastrointestinal Function Following Enzyme Replacement Therapy. A Report of Three Later-Onset Patients.  Mol Genet Metab. 2010 Oct-Nov;101(2-3):130-3.  PMID: 20638881

Offit K, Kohut K, Bernstein DL, Cummings S, White M, Sagi M, Davis JG. In Reply, J Clin Oncol. March 1, 2007: vol. 25 no. 7 913.

Offit K, Kohut K, Clagett B, Wadsworth EA, Lafaro KJ, Cummings S, White M, Sagi M, Bernstein D, Davis JG. Cancer Genetic Testing and Assisted Reproduction.

J Clin Oncol. 2006 Oct 10;24(29):4775-82. Epub 2006 Jul 13.

Abeloff’s CLINICAL ONCOLOGY, 4th Edition, Hereditary Cancer Predisposition, Churchill Livingstone, 2007.

Principles and Practice of Gastrointestinal Oncology, 2nd Edition. David P Kelsen, Chapter 3: Cancer Genetics. Wolters Kluwer, Lippincott Williams, 2007.

Non-HNPCC Colon Cancer Syndromes chapter. American Society of Clinical Oncology, 2006.

 

Other publications

Biodefense Grant Funds Salmonella Genome Study Genome News Network, 2004

Genomic Patterns Predict Breast Cancer Risk. Genome News Network, 2003.

Genomic Power Tools Identify Cancer Genes. Genome News Network, 2003.

Why Some Male Flies Don't Mate. Genome News Network, 2003.

Pre-implantation Genetic Diagnosis and Congenital Malformations. UMI 2002.

Human Genetics-Beating the Odds to Save Lives. Columbia Spectator, 2002.

Gene Discovery Lab CD, Philip Benfey, NYU Developmental Biology Department. 2000.

Kenneth Offit, Clinical Cancer Genetics: Risk Counseling and Management, 2nd Edition, (Chapters 4, 5, 10). May 2015, Wiley-Blackwell.