Canlyniadau Chwilio - Ballif, Blake C.

The Promise and Pitfalls of Telomere Region–Specific Probes gan Ballif, Blake C., Kashork, Catherine D., Shaffer, Lisa G.

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Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines gan Shaffer, Lisa G., Geretschlaeger, Anja, Ramirez, Christina J., Ballif, Blake C., Carl, Casey

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Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH gan Neill, Nicholas J, Torchia, Beth S, Bejjani, Bassem A, Shaffer, Lisa G, Ballif, Blake C

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Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing gan Ramirez, Christina J., Krug, Melissa, Zahand, Adam, Sundin, Kyle, Shaffer, Lisa G., Ballif, Blake C.

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Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report gan Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C

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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications gan Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.

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Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome gan 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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Standards and guidelines for canine clinical genetic testing laboratories gan Shaffer, Lisa G., Sundin, Kyle, Geretschlaeger, Anja, Segert, Julia, Swinburne, June E., Royal, Ramon, Loechel, Robert, Ramirez, Christina J., Ballif, Blake C.

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Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism gan 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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Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH gan 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.

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

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

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Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis gan 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

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

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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound gan 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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Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes gan 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

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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 gan 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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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements gan 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

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A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33 gan Traylor, Ryan N., Bruno, Damien L., Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J., Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A., Theisen, Aaron, Torchia, Beth S., Shaffer, Lisa G., Ballif, Blake C., Slater, Howard R.

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication gan Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G

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