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Rachel Burnside
Rachel Burnside
Beckman Coulter Diagnostics
在 beckman.com 的电子邮件经过验证
标题
引用次数
引用次数
年份
Microdeletion/microduplication of proximal 15q11. 2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay
RD Burnside, R Pasion, FM Mikhail, AJ Carroll, NH Robin, EL Youngs, ...
Human genetics 130, 517-528, 2011
2812011
22q11. 21 deletion syndromes: a review of proximal, central, and distal deletions and their associated features
RD Burnside
Cytogenetic and Genome Research 146 (2), 89-99, 2015
1872015
UPD detection using homozygosity profiling with a SNP genotyping microarray
P Papenhausen, S Schwartz, H Risheg, E Keitges, I Gadi, RD Burnside, ...
American Journal of Medical Genetics Part A 155 (4), 757-768, 2011
1452011
The recurrent distal 22q11. 2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
FM Mikhail, RD Burnside, B Rush, J Ibrahim, R Godshalk, SL Rutledge, ...
Genetics in Medicine 16 (1), 92-100, 2014
632014
Are all chromosome microarrays the same? What clinicians need to know
B Levy, RD Burnside
Prenatal diagnosis 39 (3), 157-164, 2019
572019
Recurrent deletions and duplications of chromosome 2q11. 2 and 2q13 are associated with variable outcomes
KN Riley, LM Catalano, JA Bernat, SD Adams, DM Martin, SR Lalani, ...
American journal of medical genetics Part A 167 (11), 2664-2673, 2015
562015
Section E6. 1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities
FM Mikhail, NA Heerema, KW Rao, RD Burnside, AM Cherry, LD Cooley
Genetics in Medicine 18 (6), 635-642, 2016
472016
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
RD Burnside, JG Pappas, S Sacharow, C Applegate, A Hamosh, IK Gadi, ...
American Journal of Medical Genetics Part A 161 (4), 822-828, 2013
252013
Prenatal diagnosis of two fetuses with deletions of 8p23. 1, critical region for congenital diaphragmatic hernia and heart defects
EA Keitges, R Pasion, RD Burnside, C Mason, A Gonzalez‐Ruiz, T Dunn, ...
American Journal of Medical Genetics Part A 161 (7), 1755-1758, 2013
202013
Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
RD Burnside, EJ Lose, MG Domínguez, J Sánchez‐Corona, H Rivera, ...
American Journal of Medical Genetics Part A 149 (7), 1516-1522, 2009
192009
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
RD Burnside, S Molinari, C Botti, SS Brooks, WK Chung, L Mehta, ...
American Journal of Medical Genetics Part A 176 (9), 1956-1963, 2018
132018
Complex chromosome rearrangement of 6p25. 3-> p23 and 12q24. 32-> qter in a child with moyamoya
RE Rosenberg, M Egan, S Rodgers, D Harter, RD Burnside, S Milla, ...
Pediatrics 131 (6), e1996-e2001, 2013
132013
Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions
P Papenhausen, CA Kelly, Z Zhang, J Tepperberg, RD Burnside, ...
Cancer Genetics 231, 1-13, 2019
112019
Constitutional chromoanagenesis of distal 13q in a young adult with recurrent strokes
RD Burnside, A Harris, D Speyer, WS Burgin, DZ Rose, A Sanchez-Valle
Cytogenetic and Genome Research 150 (1), 46-51, 2017
102017
A prenatally ascertained X; Y translocation characterized using conventional and molecular cytogenetics
RD Burnside, FM Mikhail, PC Cosper
American Journal of Medical Genetics Part A 146 (9), 1221-1224, 2008
82008
Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22
RD Burnside, J Ibrahim, C Flora, S Schwartz, JH Tepperberg, ...
Cytogenetic and genome research 132 (4), 227-232, 2011
52011
22q11. 2 microduplications: Two clinical reports compared with similar cases from the literature
A Oyetunji, MG Butler
Journal of Pediatric Genetics 9 (03), 211-220, 2020
42020
Secondary complex chromosome rearrangement identified by chromosome analysis and FISH subsequent to detection of an unbalanced derivative chromosome 12 by SNP array analysis
RD Burnside, L Spudich, B Rush, S Kubendran, GB Schaefer
Cytogenetic and Genome Research 142 (2), 129-133, 2014
32014
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay
K Yelavarthi, H Cabral, GN Wilson, L Rohena, H Risheg, A Penton, ...
American Journal of Medical Genetics Part A 167 (4), 695-700, 2015
22015
Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood
CV Pal, TN Eble, RD Burnside, W Bi, A Patel, LM Franco
European journal of medical genetics 57 (6), 264-266, 2014
22014
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