R. Burnside

发表

Complex Chromosome Rearrangement of 6p25.3->p23 and 12q24.32->qter in a Child With Moyamoya

S. Milla, D. Harter, R. Rosenberg, 2013, Pediatrics.

Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.

S. Schwartz, P. Papenhausen, Zhenxi Zhang, 2019, Cancer genetics.

Secondary Complex Chromosome Rearrangement Identified by Chromosome Analysis and FISH Subsequent to Detection of an Unbalanced Derivative Chromosome 12 by SNP Array Analysis

S. Kubendran, R. Burnside, L. Spudich, 2013, Cytogenetic and Genome Research.

UPD detection using homozygosity profiling with a SNP genotyping microarray

S. Schwartz, P. Papenhausen, J. Tepperberg, 2011, American journal of medical genetics. Part A.

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

S. Schwartz, W. Chung, P. Papenhausen, 2018, American journal of medical genetics. Part A.

Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes

W. Burgin, David Z. Rose, R. Burnside, 2016, Cytogenetic and Genome Research.

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

S. Schwartz, A. Hamosh, P. Papenhausen, 2013, American journal of medical genetics. Part A.

Front & Back Matter

C. Steinlein, W. Wiersinga, T. Haaf, 2019, Cytogenetic and Genome Research.

A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics

F. Mikhail, P. Cosper, R. Burnside, 2008, American Journal of Medical Genetics. Part A.

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

A. Carroll, F. Mikhail, J. Ibrahim, 2013, Genetics in Medicine.

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

S. Schwartz, P. Papenhausen, A. Carroll, 2011, Human Genetics.

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

R. Burnside, 2015, Cytogenetic and Genome Research.

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Ankita Patel, S. Lalani, D. M. Martin, 2015, American journal of medical genetics. Part A.

ipt Recurrent Deletions and Duplications of Chromosome 2 q 11 . 2 and 2 q 13 are Associated with Variable Outcomes

Donna M. Martin, Ankita Patel, S. Lalani, 2015 .

Are all chromosome microarrays the same? What clinicians need to know

B. Levy, R. Burnside, 2019, Prenatal diagnosis.

Interstitial Deletion of Proximal 8q Including Part of the Centromere from Unbalanced Segregation of a Paternal Deletion/Marker Karyotype with Neocentromere Formation at 8p22

S. Schwartz, P. Warburton, P. Papenhausen, 2011, Cytogenetic and Genome Research.

Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities

N. Heerema, A. Cherry, F. Mikhail, 2016, Genetics in Medicine.

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication

A. Carroll, F. Mikhail, J. Śanchez-Corona, 2009, American journal of medical genetics. Part A.

Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

J. Gebbia, A. Gonzalez-Ruiz, E. Keitges, 2013, American journal of medical genetics. Part A.

UPD detection using homozygosity profiling with a SNP genotyping microarray

S. Schwartz, P. Papenhausen, J. Tepperberg, 2011, American journal of medical genetics. Part A.