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 | 281 | 2011 |
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 | 187 | 2015 |
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 | 145 | 2011 |
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 | 63 | 2014 |
Are all chromosome microarrays the same? What clinicians need to know B Levy, RD Burnside Prenatal diagnosis 39 (3), 157-164, 2019 | 57 | 2019 |
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 | 56 | 2015 |
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 | 47 | 2016 |
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 | 25 | 2013 |
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 | 20 | 2013 |
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 | 19 | 2009 |
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 | 13 | 2018 |
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 | 13 | 2013 |
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 | 11 | 2019 |
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 | 10 | 2017 |
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 | 8 | 2008 |
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 | 5 | 2011 |
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 | 4 | 2020 |
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 | 3 | 2014 |
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 | 2 | 2015 |
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 | 2 | 2014 |