Tina Barbaro‐Dieber

Author

Tina Barbaro‐Dieber

Cook Children's Medical Center

Also Known As

T. Barbaro‐Dieber, Tina Barbaro-Dieber, Tina Barbaro‐Dieber

Publications

316

Citations

H-Index

Concepts

All Affiliations

Cook Children's Medical Center Phoenix Children's Hospital Children's Hospital Central California University Medical Center Groningen Ambry Genetics (United States)

About

Tina Barbaro‐Dieber is an author at Cook Children's Medical Center specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	280
2	Public Health	1	1	46
3	Cell Biology	1	1	62
4	Molecular Genetics	1	1	62
5	Molecular Medicine	1	1	62

Tina Barbaro‐Dieber

Publications

316

Citations

H-Index

Page 1

	Year	Citations
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome Seema R. Lalani, Jing Zhang, Christian P. Schaaf, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2014	105
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, The American Journal of Human Genetics Syndromic Developmental DisorderMediator ActivityGeneticsMolecular GeneticsDisease Gene Identification	2019	62
Expansion and further delineation of the <i>SETD5</i> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance Zöe Powis, Kelly D. Farwell Hagman, Cameron Mroske, Clinical Genetics GeneticsGenetic EpidemiologyDiagnostic Exome SequencingGenomicsDisease Gene Identification	2017	46
De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autism Akemi Tanaka, Megan T. Cho, Rebecca Willaert, Molecular Case Studies	2017	36
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Genetics in Medicine Neurodevelopmental DisordersDevelopmental BiologyBrain DevelopmentGenetic DisorderGenetics	2019	35
Primrose syndrome: Characterization of the phenotype in 42 patients Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Clinical Genetics Clinical DisordersGenetic DisorderCorticobasal DegenerationInherited Metabolic DiseaseGenetic Epidemiology	2020	32

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