Publications by authors named "Rachel D Burnside"

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Two MLN-TK patients with ETV::ABL1 fusions mediated by different mechanisms with false negative FISH results resolved with RNA fusion analysis.
Patrick Maher, Tim Jang, Ruben Ruiz Vega, Jennifer Miatech, Gabriela Bastidas Mora, Rachel D Burnside

Cancer Genet· September 2025

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Monocyte Anisocytosis Can Discriminate Between Sepsis and Sterile Inflammation, but not Mortality, in Critically Ill Surgical/Trauma Patients: A Secondary Prospective Analysis.
Miguel Hernández-Ríos, Ruoxuan Wu, Valerie A Polcz, Rachel D Burnside, Lael M Yonker

Crit Care Explor· September 2025

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Reconciling competencies in undergraduate medical genetics education: APHMG versus PCME competencies.
Rachel D Burnside, Megan Boothe, David H Ledbetter, Heather Stalker, Petr Starostik

Genet Med· July 2025

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Optical Genome Mapping: A New Tool for Cytogenomic Analysis.
Brynn Levy, Rachel D Burnside, Yassmine Akkari

Genes (Basel)· July 2025

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Systemic EBV+ T-Cell Lymphoma of Childhood with Hemophagocytic Lymphohistiocytosis in a Patient with a Highly Complex Karyotype.
Patrick Maher, Emilia Guzman, Joanna Chaffin, Reema Kashif, Rachel D Burnside

Genes (Basel)· March 2025

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Severe aplastic anemia with acquired X chromosome clonality as a sole abnormality.
Tim Jang, Rachel D Burnside, Joanna Chaffin, Robert Seifert, John W Hiemenz

Ann Hematol· January 2025

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Are all chromosome microarrays the same? What clinicians need to know.
Brynn Levy, Rachel D Burnside

Prenat Diagn· February 2019

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Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.
Peter Papenhausen, Carla A Kelly, Zhenxi Zhang, James Tepperberg, Rachel D Burnside

Cancer Genet· February 2019

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Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.
Rachel D Burnside, Sharon Molinari, Christina Botti, Susan Sklower Brooks, Wendy K Chung

Am J Med Genet A· September 2018

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Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes.
Rachel D Burnside, April Harris, Darrow Speyer, W Scott Burgin, David Z Rose

Cytogenet Genome Res· January 2017

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Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.
Fady M Mikhail, Nyla A Heerema, Kathleen W Rao, Rachel D Burnside, Athena M Cherry

Genet Med· June 2016

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22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.
Rachel D Burnside

Cytogenet Genome Res· January 2016

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Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Kacie N Riley, Lisa M Catalano, John A Bernat, Stacie D Adams, Donna M Martin, Rachel D Burnside

Am J Med Genet A· November 2015

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Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.
Krishna Yelavarthi, Huong Cabral, Golder N Wilson, Luis Rohena, Hiba Risheg, Rachel D Burnside

Am J Med Genet A· April 2015

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Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood.
Chandni V Pal, Tanya N Eble, Rachel D Burnside, Weimin Bi, Ankita Patel

Eur J Med Genet· February 2015

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The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.
Fady M Mikhail, Rachel D Burnside, Brooke Rush, Jennifer Ibrahim, Robin Godshalk

Genet Med· January 2014

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Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.
Elisabeth A Keitges, Romela Pasion, Rachel D Burnside, Carla Mason, Antonio Gonzalez-Ruiz

Am J Med Genet A· July 2013

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Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya.
Rebecca E Rosenberg, Maureen Egan, Shaun Rodgers, David Harter, Rachel D Burnside

Pediatrics· June 2013

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Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
Rachel D Burnside, John G Pappas, Stephanie Sacharow, Carolyn Applegate, Ada Hamosh

Am J Med Genet A· April 2013

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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Rachel D Burnside, Romela Pasion, Fady M Mikhail, Andrew J Carroll, Nathaniel H Robin

Hum Genet· October 2011

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UPD detection using homozygosity profiling with a SNP genotyping microarray.
Peter Papenhausen, Stuart Schwartz, Hiba Risheg, Elisabeth Keitges, Inder Gadi, Rachel D Burnside

Am J Med Genet A· April 2011

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Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.
Rachel D Burnside, Edward J Lose, Maria G Domínguez, Jose Sánchez-Corona, Horacio Rivera

Am J Med Genet A· July 2009

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A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics.
Rachel D Burnside, Fady M Mikhail, Paula C Cosper

Am J Med Genet A· May 2008

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