Publications by authors named "Roger A Schultz"

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Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens.
Jill A Rosenfeld, S Anne Morton, Cathryn Hummel, Scott G Sulpizio, Lisa D McDaniel, Roger A Schultz

Fetal Diagn Ther· June 2015

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Genomic microarray analysis on formalin-fixed paraffin-embedded material for uveal melanoma prognostication.
Eugen C Minca, Raymond R Tubbs, Bryce P Portier, Zhen Wang, Christopher Lanigan, Roger A Schultz

Cancer Genet· January 2015

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Cryptic chromosome abnormalities in a patient with mixed phenotype acute leukemia.
Yi Ning, Marilyn L Slovak, Roger A Schultz, Ivana Gojo, Maria R Baer

Leuk Lymphoma· March 2014

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Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
Justin Overhoff, Marina M Rabideau, Lynne M Bird, Daniela N Schweitzer, Karla Haynes, Roger A Schultz

Am J Med Genet A· January 2014

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Value of oligonucleotide-based array comparative genomic hybridization for diagnosis of acute promyelocytic leukemia in a patient negative for t(15;17)(q24.1;q21.2)/promyelocytic leukemia-retinoic acid receptor, alpha by conventional cytogenetics and fluorescence in situ hybridization.
Khaled Alayed, L Jeffrey Medeiros, Roger A Schultz, Jorge Cortes, Gary Lu

Clin Lymphoma Myeloma Leuk· August 2013

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The use of cytogenetic microarrays in myelodysplastic syndrome characterization.
Lisa G Shaffer, Blake C Ballif, Roger A Schultz

Methods Mol Biol· July 2013

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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Alex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, Jacqueline M Hoover, Catharine J Harris, Roger A Schultz

Neurogenetics· May 2013

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Modified array-based comparative genomic hybridization detects cryptic and variant PML-RARA rearrangements in acute promyelocytic leukemia lacking classic translocations.
Aaron M Gruver, Heesun J Rogers, James R Cook, Blake C Ballif, Roger A Schultz

Diagn Mol Pathol· March 2013

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The use of new technologies in the detection of balanced translocations in hematologic disorders.
Lisa G Shaffer, Roger A Schultz, Blake C Ballif

Curr Opin Genet Dev· June 2012

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NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.
Kimberly J Moles, Gordon C Gowans, Satyanarayana Gedela, David Beversdorf, Arthur Yu, Roger A Schultz

Genet Med· May 2012

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Allen N Lamb, Jill A Rosenfeld, Nicholas J Neill, Michael E Talkowski, Ian Blumenthal, Roger A Schultz

Hum Mutat· April 2012

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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I Bader, Roger A Schultz

Hum Genet· January 2012

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Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis.
Kathryn A Kolquist, Roger A Schultz, Marilyn L Slovak, Lisa D McDaniel, Theresa C Brown

Mol Cytogenet· November 2011

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Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes.
Kathryn A Kolquist, Roger A Schultz, Aubry Furrow, Theresa C Brown, Jin-Yeong Han

Cancer Genet· November 2011

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Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.
Trilochan Sahoo, Aaron Theisen, Jill A Rosenfeld, Allen N Lamb, J Britt Ravnan, Roger A Schultz

Genet Med· October 2011

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Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Jill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, Tom Cushing, Salmo Raskin, Roger A Schultz

Am J Med Genet A· August 2011

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Upregulation of TRAG3 gene in urothelial carcinoma of the bladder.
Jose A Karam, Sandra Huang, Jinhai Fan, Jennifer Stanfield, Roger A Schultz

Int J Cancer· June 2011

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New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Jill A Rosenfeld, Yves Lacassie, Dima El-Khechen, Luis F Escobar, James Reggin, Roger A Schultz

Eur J Med Genet· June 2011

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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.
Nicholas J Neill, Blake C Ballif, Allen N Lamb, Sumit Parikh, J Britt Ravnan, Roger A Schultz

Genome Res· April 2011

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Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis.
Roger A Schultz, Maria Delioukina, Karl Gaal, Victoria Bedell, David D Smith

Mol Cytogenet· February 2011

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Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice.
Parastoo Davari, Jennifer L Hebert, Donna G Albertson, Bing Huey, Ritu Roy, Roger A Schultz

Carcinogenesis· June 2010

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Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice.
Irina V Tereshchenko, Yanping Chen, Lisa D McDaniel, Roger A Schultz, Jay A Tischfield

DNA Repair (Amst)· May 2010

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XPF/ERCC4 and ERCC1: their products and biological roles.
Lisa D McDaniel, Roger A Schultz

Adv Exp Med Biol· February 2009

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MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.
Elizabeth J Bhoj, Stefano Romeo, Marco G Baroni, Guy Bartov, Roger A Schultz

Mol Cytogenet· February 2009

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The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Miriam Gordillo, Hugo Vega, Alison H Trainer, Fajian Hou, Norio Sakai, Roger A Schultz

Hum Mol Genet· July 2008

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