Matthew A. Deardorff

Author

Children's Hospital of Philadelphia ORCID

Also Known As

Amendola, Laura M., Antonie Kline, Argenia L. Doss, Daniel Doherty, Deardorff, Matthew, Deardorff, Matthew A., Edward Behrens, Jyoti G Dayal, M. A. DEARDORFF, M. A. Deardorff

242

Publications

11K

Citations

H-Index

176

Concepts

All Affiliations

Children's Hospital of Philadelphia University of Pennsylvania Baylor College of Medicine Howard Hughes Medical Institute National Institutes of Health

About

Matthew A. Deardorff is an author at Children's Hospital of Philadelphia specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	39	59	6.5K
2	Natural Sciences	6	6	557
3	Engineering	2	2	44
4	Arts	1	1	11
5	Health Sciences	1	1	54

Matthew A. Deardorff

118

Publications

9.8K

Citations

H-Index

Page 1

	Year	Citations
A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer, New England Journal of Medicine	2011	872
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Nature Genetics Developmental BiologyTwo-hit ModelGeneticsDevelopmental ScienceGlobal Developmental Delay	2010	669
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, The American Journal of Human Genetics Developmental AnomalySmc1a CauseMendelian DisorderGenetic DisorderGenetics	2007	518
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann, Human Molecular Genetics CytogeneticsGeneticsHuman PolymorphismMolecular GeneticsEmbryology	2010	496
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Claire Redin, Harrison Brand, Ryan L. Collins, Nature Genetics Human Congenital AnomaliesDevelopmental AnomalyDevelopmental BiologyCytogeneticsGenomic Landscape	2016	346
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases Rong Chen, Lisong Shi, Jörg Hakenberg, Nature Biotechnology Mendelian Childhood DiseasesMendelian DisorderGeneticsGenomes Identifies IndividualsGenetic Epidemiology	2016	315
Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis Ute Rothbächer, Micheline N. Laurent, Matthew A. Deardorff, The EMBO Journal Cell LineageSignal TransductionDevelopmental BiologySubcellular LocalizationMorphogenesis	2000	293
RAD21 Mutations Cause a Human Cohesinopathy Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, The American Journal of Human Genetics Rad21 Mutations CauseGenetic DisorderGeneticsPathologyDisease Gene Identification	2012	267
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsHeterozygous Missense Mutations	2012	243
Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells Jinglan Liu, Zhe Zhang, Masashige Bando, PLoS Biology ChromatinTranscriptional RegulationDevelopmental BiologyCell RegulationCell Division	2009	227

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