Barbara R. DuPont - Concepedia

Author

Barbara R. DuPont

Greenwood Genetic Center

Also Known As

B DuPont, B Dupont, B R DuPont, B. DuPont, B. Dupont, B. R. DuPont, B. R. Dupont, B., DuPont, B.R. DuPont, B.R. Dupont

172

Publications

5.5K

Citations

H-Index

138

Concepts

All Affiliations

Greenwood Genetic Center The University of Texas Health Science Center at San Antonio Clemson University Medical University of South Carolina Western University

About

Barbara R. DuPont is an author at Greenwood Genetic Center specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	25	39	3.3K
2	Natural Sciences	4	4	123
3	Public Health	3	3	63
4	Engineering	2	2	75
5	Health Sciences	2	2	98

Barbara R. DuPont

Publications

5.3K

Citations

H-Index

Page 1

	Year	Citations
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns Nanda A. Singh, Carole Charlier, Dora Stauffer, Nature Genetics ChannelopathiesMolecular NeuroscienceHyperpolarization (Biology)NeurophysiologyGenetics	1998	1.2K
<i>AGTR2</i> Mutations in X-Linked Mental Retardation Virginie Vervoort, Michael A. Beachem, Penny S. Edwards, Science	2002	718
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, The American Journal of Human Genetics Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation	2020	309
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof, Genetics in Medicine	2021	190
Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome Sara M. Sarasua, Luigi Boccuto, Julia L. Sharp, Human Genetics Genetic DisorderMedicineGeneticsPathogenesisClinical Genetics	2014	189
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Human Genetics and Genomics Advances	2021	149
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome) Sara M. Sarasua, Alka Dwivedi, Luigi Boccuto, Journal of Medical Genetics	2011	140
Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability Kavita Bhalla, Yue Luo, Tim Buchan, The American Journal of Human Genetics Intellectual ImpairmentAutoimmune DiseasePsychiatryNeurological DisorderMedicine	2008	139
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q Jannine D. Cody, Patricia D. Ghidoni, Barbara R. DuPont, American Journal of Medical Genetics	1999	132
ECC-1 Cells: A Well-Differentiated Steroid-Responsive Endometrial Cell Line with Characteristics of Luminal Epithelium1 Bilan Mo, Aleksandr E. Vendrov, Wilder A. Palomino, Biology of Reproduction Developmental BiologyCell DivisionHormonal ReceptorUterine ReceptivityImplantation (Embryology)	2006	109

Page 1