Donald Basel - Concepedia

Author

Donald Basel

Also Known As

Basel D, D Basel, D G Basel, D. Basel, Devin Oglesbee, Donald Basel, Donald G Basel, Donald G. Basel, Hachen, Rachel K., Jordan, Justin T.

145

Publications

3.1K

Citations

H-Index

Concepts

All Affiliations

Medical College of Wisconsin Baylor College of Medicine Cincinnati Children's Hospital Medical Center Murdoch Children's Research Institute Children's Hospital at Westmead

About

Donald Basel is an author at Medical College of Wisconsin specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	16	989
2	Health Sciences	2	2	30
3	Social Sciences	2	2	48
4	Engineering	1	1	32
5	Biology	1	1	32

Donald Basel

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27 Peter Ianakiev, Michael W. Kilpatrick, Iva Toudjarska, The American Journal of Human Genetics Split-hand/split-foot Malformation IsThumb HypoplasiaDevelopmental AnomalyDevelopmental BiologyMendelian Disorder	2000	293
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial Ravi Savarirayan, Louise Tofts, Melita Irving, The Lancet Subcutaneous Vosoritide TherapyPediatricsMulticentre TrialMedicinePhase 3	2020	184
Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 Magdalena Koczkowska, Tom Callens, Yunjia Chen, Human Mutation	2019	130
Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, The American Journal of Human Genetics Ocular DiseaseMendelian DisorderRetinal DystrophyOphthalmologyGenetic Disorder	2014	115
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies Christina L. Alamillo, Zöe Powis, Kelly D. Farwell, Prenatal Diagnosis	2015	102
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance Carol Durno, Ayse B. Ercan, Vanessa Bianchi, Journal of Clinical Oncology	2021	95
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation Magdalena Koczkowska, Tom Callens, Alicia Gomes, Genetics in Medicine	2018	93
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study Ravi Savarirayan, Louise Tofts, Melita Irving, Genetics in Medicine	2021	88
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics Dawn H. Siegel, Catherine E. Cottrell, Jenna L. Streicher, Journal of Investigative Dermatology AngiogenesisSomatic VariantTumor HeterogeneityVascular AnomaliesGenetics	2017	74
Vosoritide therapy in children with achondroplasia aged 3−59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial Ravi Savarirayan, William R. Wilcox, Paul Harmatz, The Lancet Child & Adolescent Health MedicineVosoritide TherapyPediatricsPaediatric Medicine	2023	54

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