American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

by Shaffer, Lisa G.
Published 2005

Disorders caused by chromosome abnormalities

by Theisen, Aaron, Shaffer, Lisa G
Published 2010

Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations

by Jarmuz-Szymczak, Malgorzata, Janiszewska, Joanna, Szyfter, Krzysztof, Shaffer, Lisa G.
Published 2014

Estimates of penetrance for recurrent pathogenic copy-number variations

by Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.
Published 2013

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

by Callaway, Jonathan L A, Shaffer, Lisa G, Chitty, Lyn S, Rosenfeld, Jill A, Crolla, John A
Published 2013

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

by Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C
Published 2009

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

by Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.
Published 2009

American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

by Shaffer, Lisa G., Agan, Noelle, Goldberg, James D., Ledbetter, David H., Longshore, John W., Cassidy, Suzanne B.
Published 2001

Neuropathology of brain and spinal malformations in a case of monosomy 1p36

by Shiba, Naoko, Daza, Ray AM, Shaffer, Lisa G, Barkovich, A James, Dobyns, William B, Hevner, Robert F
Published 2013

A Case of Near-triploidy in Myelodysplastic Syndrome with del(5q) Combined with del(1p) and del(13q)

by Kim, Bo-Ram, Kim, Ji-Eun, Woo, Kwang-Sook, Kim, Kyeong-Hee, Kim, Jeong-Man, Lee, Suee, Shaffer, Lisa G., Han, Jin-Yeong
Published 2012

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

by 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 2012

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

by 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 2012

Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

by Hermetz, Karen E., Newman, Scott, Conneely, Karen N., Martin, Christa L., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Rudd, M. Katharine
Published 2014

Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

by Cunha, Pricila da Silva, Pena, Heloisa B., D'Angelo, Carla Sustek, Koiffmann, Celia P., Rosenfeld, Jill A., Shaffer, Lisa G., Stofanko, Martin, Gonçalves-Dornelas, Higgor, Pena, Sérgio Danilo Junho
Published 2014

Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis

by Kolquist, Kathryn A, Schultz, Roger A, Slovak, Marilyn L, McDaniel, Lisa D, Brown, Theresa C, Tubbs, Raymond R, Cook, James R, Theil, Karl S, Cawich, Victoria, Valentin, Caitlin, Minier, Sara, Neill, Nicholas J, Byerly, Steve, Morton, S Annie, Sahoo, Trilochan, Ballif, Blake C, Shaffer, Lisa G
Published 2011

A Copy Number Variation Morbidity Map of Developmental Delay

by Cooper, Gregory M., Coe, Bradley P., Girirajan, Santhosh, Rosenfeld, Jill A., Vu, Tiffany, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Patricia, McCracken, Elizabeth, Niyazov, Dmitriy, Leppig, Kathleen, Thiese, Heidi, Hummel, Marybeth, Alexander, Nora, Gorski, Jerome, Kussmann, Jennifer, Shashi, Vandana, Johnson, Krys, Rehder, Catherine, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.
Published 2011

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

by Antonacci, Francesca, Dennis, Megan Y., Huddleston, John, Sudmant, Peter H., Steinberg, Karyn Meltz, Rosenfeld, Jill A., Miroballo, Mattia, Graves, Tina A., Vives, Laura, Malig, Maika, Denman, Laura, Raja, Archana, Stuart, Andrew, Tang, Joyce, Munson, Brenton, Shaffer, Lisa G., Amemiya, Chris T., Wilson, Richard K., Eichler, Evan E.
Published 2014