Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
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.
Published in Cell (11.05.2012)
Published in Cell (11.05.2012)
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Estimates of penetrance for recurrent pathogenic copy-number variations
Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.
Published in Genetics in medicine (01.06.2013)
Published in Genetics in medicine (01.06.2013)
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A copy number variation morbidity map of developmental delay
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
Published in Nature genetics (01.09.2011)
Published in Nature genetics (01.09.2011)
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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
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
Published in The New England journal of medicine (06.12.2012)
Published in The New England journal of medicine (06.12.2012)
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Journal Article
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
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.
Published in Cell (27.04.2012)
Published in Cell (27.04.2012)
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Journal Article
Genetic basis of intellectual disability
Ellison, Jay W, Rosenfeld, Jill A, Shaffer, Lisa G
Published in Annual review of medicine (01.01.2013)
Published in Annual review of medicine (01.01.2013)
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Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
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
Published in The New England journal of medicine (06.12.2012)
Published in The New England journal of medicine (06.12.2012)
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Journal Article
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
Nguyen, Lam S, Kim, Hyung-Goo, Rosenfeld, Jill A, Shen, Yiping, Gusella, James F, Lacassie, Yves, Layman, Lawrence C, Shaffer, Lisa G, Gécz, Jozef
Published in Human molecular genetics (01.05.2013)
Published in Human molecular genetics (01.05.2013)
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Journal Article
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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Journal Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome
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
Published in European journal of human genetics : EJHG (01.11.2010)
Published in European journal of human genetics : EJHG (01.11.2010)
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Journal Article
Molecular Convergence of Neurodevelopmental Disorders
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
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Journal Article
Large inverted duplications in the human genome form via a fold-back mechanism
Hermetz, Karen E, Newman, Scott, Conneely, Karen N, Martin, Christa L, Ballif, Blake C, Shaffer, Lisa G, Cody, Jannine D, Rudd, M Katharine
Published in PLoS genetics (01.01.2014)
Published in PLoS genetics (01.01.2014)
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Journal Article
Monosomy 1p36 deletion syndrome
Gajecka, Marzena, Mackay, Katherine L., Shaffer, Lisa G.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.11.2007)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.11.2007)
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Journal Article
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development
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
Published in Proceedings of the National Academy of Sciences - PNAS (28.08.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (28.08.2012)
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Journal Article
The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future
Shaffer, Lisa G., Bejjani, Bassem A., Torchia, Beth, Kirkpatrick, Susan, Coppinger, Justine, Ballif, Blake C.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.11.2007)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.11.2007)
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Journal Article
ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
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.
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Detection of low-level mosaicism by array CGH in routine diagnostic specimens
Ballif, Blake C., Rorem, Emily A., Sundin, Kyle, Lincicum, Matt, Gaskin, Shannon, Coppinger, Justine, Kashork, Catherine D., Shaffer, Lisa G., Bejjani, Bassem A.
Published in American journal of medical genetics. Part A (15.12.2006)
Published in American journal of medical genetics. Part A (15.12.2006)
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Journal Article
Clinical utility of contemporary molecular cytogenetics
Bejjani, Bassem A, Shaffer, Lisa G
Published in Annual review of genomics and human genetics (01.01.2008)
Published in Annual review of genomics and human genetics (01.01.2008)
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Journal Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
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
Published in Nature genetics (01.09.2007)
Published in Nature genetics (01.09.2007)
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