Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication von Dennis, Megan Y., Nuttle, Xander, Sudmant, Peter H., Antonacci, Francesca, Graves, Tina A., Nefedov, Mikhail, Rosenfeld, Jill A., Sajjadian, Saba, Malig, Maika, Kotkiewicz, Holland, Curry, Cynthia J., Shafer, Susan, Shaffer, Lisa G., de Jong, Pieter J., Wilson, Richard K., Eichler, Evan E.

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Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, a... von Shaffer, Lisa G.

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Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genet... von Shaffer, Lisa G.

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Estimates of penetrance for recurrent pathogenic copy-number variations von Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.

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A copy number variation morbidity map of developmental delay von Hamid, Rizwan, Baker, Carl, McCracken, Elizabeth, Stalker, Heather, Eichler, Evan E, Hummel, Marybeth, Ballif, Blake C, Coe, Bradley P, Bader, Patricia, Girirajan, Santhosh, Kussmann, Jennifer, Rosenfeld, Jill A, Cooper, Gregory M, Shashi, Vandana, Abdel-Hamid, Hoda, Williams, Charles, Leppig, Kathleen, Alexander, Nora, Gorski, Jerome, Niyazov, Dmitriy, Hannig, Vickie, Rehder, Catherine, Shaffer, Lisa G, Johnson, Krys, Thiese, Heidi, Vu, Tiffany H

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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis von Wapner, Ronald J, Martin, Christa Lese, Levy, Brynn, Ballif, Blake C, Eng, Christine M, Zachary, Julia M, Savage, Melissa, Platt, Lawrence D, Saltzman, Daniel, Grobman, William A, Klugman, Susan, Scholl, Thomas, Simpson, Joe Leigh, McCall, Kimberly, Aggarwal, Vimla S, Bunke, Brian, Nahum, Odelia, Patel, Ankita, Lamb, Allen N, Thom, Elizabeth A, Beaudet, Arthur L, Ledbetter, David H, Shaffer, Lisa G, Jackson, Laird

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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries von Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia M., Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David J., Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.

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Large inverted duplications in the human genome form via a fold-back mechanism von Hermetz, Karen E, Newman, Scott, Conneely, Karen N, Martin, Christa L, Ballif, Blake C, Shaffer, Lisa G, Cody, Jannine D, Rudd, M Katharine

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Genetic Basis of Intellectual Disability von Ellison, Jay W, Rosenfeld, Jill A, Shaffer, Lisa G

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Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat von Shaffer, Griffin D., Ballif, Blake C., Meurs, Kathryn, Shaffer, Lisa G., Flores-Smith, Helen

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Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample von Talkowski, Michael E, Ordulu, Zehra, Pillalamarri, Vamsee, Benson, Carol B, Blumenthal, Ian, Connolly, Susan, Hanscom, Carrie, Hussain, Naveed, Pereira, Shahrin, Picker, Jonathan, Rosenfeld, Jill A, Shaffer, Lisa G, Wilkins-Haug, Louise E, Gusella, James F, Morton, Cynthia C

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Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders von Nguyen, Lam S, Kim, Hyung-Goo, Rosenfeld, Jill A, Shen, Yiping, Gusella, James F, Lacassie, Yves, Layman, Lawrence C, Shaffer, Lisa G, Gécz, Jozef

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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound von 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.

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Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome von Rosenfeld, Jill A, Ballif, Blake C, Lucas, Ann, Spence, Edward J, Powell, Cynthia, Aylsworth, Arthur S, Torchia, Beth A, Shaffer, Lisa G

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome von Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan

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DNA methylation dysregulation patterns in the 1p36 region instability von Swierkowska-Janc, Joanna, Kabza, Michal, Rydzanicz, Malgorzata, Giefing, Maciej, Ploski, Rafal, Shaffer, Lisa G., Gajecka, Marzena

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Molecular Convergence of Neurodevelopmental Disorders von Chen, Elizabeth S., Gigek, Carolina O., Rosenfeld, Jill A., Diallo, Alpha B., Maussion, Gilles, Chen, Gary G., Vaillancourt, Kathryn, Lopez, Juan P., Crapper, Liam, Poujol, Raphaël, Shaffer, Lisa G., Bourque, Guillaume, Ernst, Carl

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The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature von Callaway, Jonathan L. A., Shaffer, Lisa G., Chitty, Lyn S., Rosenfeld, Jill A., Crolla, John A.

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Identification of aneuploidy in dogs screened by a SNP microarray von Shaffer, Lisa G., Hopp, Bradley, Switonski, Marek, Zahand, Adam, Ballif, Blake C.

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The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding von Ballif, Blake C., Emerson, Lisa J., Ramirez, Christina J., Carl, Casey R., Sundin, Kyle, Flores-Smith, Helen, Shaffer, Lisa G.

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