Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
Shaffer, Lisa G., Rosenfeld, Jill A., Dabell, Mindy P., Coppinger, Justine, Bandholz, Anne M., Ellison, Jay W., Ravnan, J. Britt, Torchia, Beth S., Ballif, Blake C., Fisher, Allan J.
Published in Prenatal diagnosis (01.10.2012)
Published in Prenatal diagnosis (01.10.2012)
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Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
Shaffer, Lisa G., Dabell, Mindy P., Fisher, Allan J., Coppinger, Justine, Bandholz, Anne M., Ellison, Jay W., Ravnan, J. Britt, Torchia, Beth S., Ballif, Blake C., Rosenfeld, Jill A.
Published in Prenatal diagnosis (01.10.2012)
Published in Prenatal diagnosis (01.10.2012)
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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1
Jorgez, Carolina J, Rosenfeld, Jill A, Wilken, Nathan R, Vangapandu, Hima V, Sahin, Aysegul, Pham, Dung, Carvalho, Claudia M B, Bandholz, Anne, Miller, Amanda, Weaver, David D, Burton, Barbara, Babu, Deepti, Bamforth, John S, Wilks, Timothy, Flynn, Daniel P, Roeder, Elizabeth, Patel, Ankita, Cheung, Sau W, Lupski, James R, Lamb, Dolores J
Published in PloS one (09.09.2014)
Published in PloS one (09.09.2014)
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Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients
Chowdhury, Shimul, Bandholz, Anne M., Parkash, Sandhya, Dyack, Sarah, Rideout, Andrea L., Leppig, Kathleen A., Thiese, Heidi, Wheeler, Patricia G., Tsang, Marilyn, Ballif, Blake C., Shaffer, Lisa G., Torchia, Beth S., Ellison, Jay W., Rosenfeld, Jill A.
Published in American journal of medical genetics. Part A (01.01.2014)
Published in American journal of medical genetics. Part A (01.01.2014)
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Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
Rosenfeld, Jill A, Leppig, Kathleen, Ballif, Blake C, Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, Keller, Kory, Meschino, Wendy, Bejjani, Bassem A, Torchia, Beth S, Shaffer, Lisa G
Published in Genetics in medicine (01.11.2009)
Published in Genetics in medicine (01.11.2009)
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Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1: e107028
Jorgez, Carolina J, Rosenfeld, Jill A, Wilken, Nathan R, Vangapandu, Hima V, Sahin, Aysegul, Pham, Dung, Carvalho, Claudia MB, Bandholz, Anne, Miller, Amanda, Weaver, David D
Published in PloS one (01.09.2014)
Published in PloS one (01.09.2014)
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Journal Article