Publications

Mahadevan SK, Wen S, Balasa A, Fruhman G, Wagner A, Al-Hussaini T, Van den Veyver IB. No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles. Prenatal diagnosis 2013;33(13) 1242–1247. doi: 10.1002/pd.4239. Epub 2013 Oct 4. PMID 24105752 (NIHMS558489) PMCID 3951116.

Mahadevan SK*, Wen S*, Wan Y-W, Peng H-H, Otta S, Liu Z, Iacovino M, Mahen EM, Kyba M, Sadikovic B, Van den Veyver IB. NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation. Human Molecular Genetics 2014;23(3):706-16 PMID 24105472; PMCID: PMC 3888260.

Bui TH, Raymond FL, Van den Veyver IB. Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients? Prenatal diagnosis. 2014;34(1):12-7. PubMed PMID: 24214820.

Emrick LT, Murphy L, Shamshirsaz A, Ruano R, Cassady CI, Liu L, Chang F, V. Sutton VR, Li M, Van den Veyver IB. Prenatal Diagnosis of CLOVES Syndrome confirmed by detection of a mosaic PIK3CA mutation. 2014. Am J Med Genet A. 2014, 164(10), 2633-7. PubMed PMID: 25044986.

Chandrasekharan S, McGuire AL, Van den Veyver IB. Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care? Prenatal Diagnosis 2014 Oct;34(10):921-6. PubMed PMID: 24989832.

Westerfield L, Darilek S, Van den Veyver IB. Counseling challenges with variants of uncertain significance and incidental findings in prenatal genetic screening and diagnosis. J. Clin. Med. 2014, 3(3), 1018-1032; doi:10.3390/jcm3031018

Aagaard K, Riehle K, Ma J, Segata N, Mistretta TA, Coarfa C, Raza S, Rosenbaum S, Van den Veyver I, Milosavljevic A, Gevers D, Huttenhower C, Petrosino J, Versalovic J. A metagenomic approach to characterization of the vaginal microbiome signature in pregnancy. PLoS One 2012;7:e36466.

Fruhman G, Eble TN, Gambhir N, Sutton VR, Van den Veyver IB, Lewis RA. Ophthalmologic findings in Aicardi syndrome. J AAPOS 2012;16:238-41.

Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn 2012;32:351-61.

Willis AS, Van den Veyver I, Eng CM. Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Prenat Diagn 2012;32:315-20.

Shaffer LG, Van den Veyver IB. New technologies for the assessment of chromosomes in prenatal diagnosis. Prenat Diagn 2012;32:307-8.

Liu W, Shaver TM, Balasa A, Ljungberg MC, Wang X, Wen S, Nguyen H, Van den Veyver IB. Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS One 2012;7:e32331.

Bi W, Breman A, Shaw CA, Stankiewicz P, Gambin T, Lu X, Cheung SW, Jackson LG, Lupski JR, Van den Veyver IB, Beaudet AL. Detection of ≥ 1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn 2012;32:12-20.

Strassberg M, Fruhman G, Van den Veyver IB. Copy-number changes in prenatal diagnosis. Expert Rev Mol Diagn 2011;11:579-92.

Harris RA, Ferrari F, Ben-Shachar S, Wang X, Saade G, Van Den Veyver I, Facchinetti F, Aagaard-Tillery K. Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths. Prenat Diagn 2011;31:932-44.

Balasa A, Sanchez-Valle A, Sadikovic B, Sangi-Haghpeykar H, Bravo J, Chen L, Liu W, Fiorotto ML, Van den Veyver IB. Chronic Maternal Protein Deprivation in Mice Is Associated with Overexpression of the Cohesin-Mediator Complex in Liver of Their Offspring. J Nutr 2011;141:2106-12.

Kolomeyevskaya N, Blazo M, Van den Veyver I, Strehlow S, Aagaard-Tillery K. Pheochromocytoma and Von Hippel-Lindau in Pregnancy. Am J Perinatol 2010;27:257-63.

Scott RW, Pivnick EK, Dowell SH, Eubanks JW, Huang EY, Van den Veyver IB, Wang X. Goltz syndrome: report of two severe cases. BMJ Case Reports 2009; doi:10.1136/bcr.09.2008.0909.

Olivarez SA, Maheshwari B, McCarthy M, Zacharias N, Van den Veyver I, Casturi L, Sangi-Haghpeykar H, Aagaard-Tillery K. Prospective trial on obstructive sleep apnea in pregnancy and fetal heart rate monitoring. Am J Obstet Gynecol 2010;202:552 e1-7.

Mendez-Figueroa H, Lamance K, Sutton VR, Van den Veyver, IB. Management of Ornithine Transcarbamylase Deficiency in Pregnancy, Am J Perinatol 2010 May 10. [Epub ahead of print]

Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van den Veyver I, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD): follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am J Med Genet A 2010;152A:1825-31.

Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang P. PORCN Mutations and Variants identified in Patients with Focal Dermal Hypoplasia through Diagnostic Gene Sequencing. Genet Test Mol Biomarkers 2010 Oct;14(5):709-13.