The Promise and Pitfalls of Telomere Region–Specific Probes

par Ballif, Blake C., Kashork, Catherine D., Shaffer, Lisa G.
Publié 2000

Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines

par Shaffer, Lisa G., Geretschlaeger, Anja, Ramirez, Christina J., Ballif, Blake C., Carl, Casey
Publié dans Hum Genet (2019)

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

par Bejjani Bassem A, Torchia Beth S, Neill Nicholas J, Shaffer Lisa G, Ballif Blake C
Publié 2010-06-01

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

par Neill, Nicholas J, Torchia, Beth S, Bejjani, Bassem A, Shaffer, Lisa G, Ballif, Blake C
Publié 2010

Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing

par Ramirez, Christina J., Krug, Melissa, Zahand, Adam, Sundin, Kyle, Shaffer, Lisa G., Ballif, Blake C.
Publié dans J Vet Diagn Invest (2019)

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

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

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

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

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

par Rosenfeld, Jill A., Ballif, Blake C., Lucas, Ann, Spence, Edward J., Powell, Cynthia, Aylsworth, Arthur S., Torchia, Beth A., Shaffer, Lisa G.
Publié 2009

Standards and guidelines for canine clinical genetic testing laboratories

par Shaffer, Lisa G., Sundin, Kyle, Geretschlaeger, Anja, Segert, Julia, Swinburne, June E., Royal, Ramon, Loechel, Robert, Ramirez, Christina J., Ballif, Blake C.
Publié dans Hum Genet (2018)

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

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

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

par Neill, Nicholas J., Ballif, Blake C., Lamb, Allen N., Parikh, Sumit, Ravnan, J. Britt, Schultz, Roger A., Torchia, Beth S., Rosenfeld, Jill A., Shaffer, Lisa G.
Publié 2011

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

par Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S
Publié 2012

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

par Heilstedt, Heidi A., Ballif, Blake C., Howard, Leslie A., Lewis, Richard A., Stal, Samuel, Kashork, Catherine D., Bacino, Carlos A., Shapira, Stuart K., Shaffer, Lisa G.
Publié 2003

Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis

par Schultz, Roger A, Delioukina, Maria, Gaal, Karl, Bedell, Victoria, Smith, David D, Forman, Stephen J, McDaniel, Lisa D, Ballif, Blake C, Shaffer, Lisa G, Slovak, Marilyn L
Publié 2011

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

par 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
Publié 2012

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

par 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
Publié 2012

Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes

par Forman Stephen J, O'Donnell Margaret, Hsu Ya-Hsuan, Bedell Victoria, Smith David D, Slovak Marilyn L, Gaal Karl, McDaniel Lisa, Schultz Roger, Ballif Blake C, Shaffer Lisa G
Publié 2010-11-01

Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes

par Slovak, Marilyn L, Smith, David D, Bedell, Victoria, Hsu, Ya-Hsuan, O'Donnell, Margaret, Forman, Stephen J, Gaal, Karl, McDaniel, Lisa, Schultz, Roger, Ballif, Blake C, Shaffer, Lisa G
Publié 2010

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

par 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
Publié 2010

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

par Luo, Yue, Hermetz, Karen E., Jackson, Jodi M., Mulle, Jennifer G., Dodd, Anne, Tsuchiya, Karen D., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Ledbetter, David H., Martin, Christa L., Rudd, M. Katharine
Publié 2011