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

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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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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, ROSENFELD, Jill A, LAMB, Allen N, SAHOO, Trilochan, BAWLE, Erawati V, PERSON, Richard E, MAHADEVAN, Sangeetha, ALLIMAN, Sarah, THOMPSON, Regina, TRAYLOR, Ryan, BEJJANI, Bassem A, SHAFFER, Lisa G

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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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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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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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Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development von Lage, Kasper, Greenway, Steven C, Rosenfeld, Jill A, Wakimoto, Hiroko, Gorham, Joshua M, Segrè, Ayellet V, Roberts, Amy E, Smoot, Leslie B, Pu, William T, C. Pereira, Alexandre, Mesquita, Sonia M, Tommerup, Niels, Brunak, Søren, Ballif, Blake C, Shaffer, Lisa G, Donahoe, Patricia K, Daly, Mark J, Seidman, Jonathan G, Seidman, Christine E, Larsen, Lars A

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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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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity von Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.

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Detection of low-level mosaicism by array CGH in routine diagnostic specimens von Ballif, Blake C., Rorem, Emily A., Sundin, Kyle, Lincicum, Matt, Gaskin, Shannon, Coppinger, Justine, Kashork, Catherine D., Shaffer, Lisa G., Bejjani, Bassem A.

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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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Clinical utility of contemporary molecular cytogenetics von Bejjani, Bassem A, Shaffer, Lisa G

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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2 von Shaffer, Lisa G, Ballif, Blake C, Hornor, Sara A, Jenkins, Elizabeth, Madan-Khetarpal, Suneeta, Surti, Urvashi, Jackson, Kelly E, Asamoah, Alexander, Brock, Pamela L, Gowans, Gordon C, Conway, Robert L, Graham, John M, Medne, Livija, Zackai, Elaine H, Shaikh, Tamim H, Geoghegan, Joel, Selzer, Rebecca R, Eis, Peggy S, Bejjani, Bassem A

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