Concepedia

Deborah Barbouth

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Publications

43

Citations

1.9K

H-Index

28

Active since

2007

Affiliations

University of Miami(Current)

Baylor College of Medicine

Boston Children's Hospital

Dr. John T. Macdonald Foundation

Duke University

Deborah Barbouth is an author at University of Miami specializing in life sciences, genetics, and molecular genetics.

Publications per year

2007–2024

43

Publications

43

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

Yao‐Shan Fan, Parul Jayakar, Hongbo Zhu et al. · Human Mutation · 2007 · 124 citations

, , +17

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

Eugen‐Matthias Strehle, Linbo Yu, Jill A. Rosenfeld et al. · American Journal of Medical Genetics Part A · 2012 · 121 citations

, , +17

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

Carolyn M. Yrigollen, Loreto Martorell, Blythe Durbin‐Johnson et al. · Journal of Neurodevelopmental Disorders · 2014 · 114 citations · Full text

, , +6

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry, Thomas Besnard, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 110 citations · Full text

, , +16

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome

Chiara Pastori, Veronica J. Peschansky, Deborah Barbouth et al. · Human Genetics · 2013 · 103 citations · Full text

, , +15

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