Donald Basel

Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27

Peter Ianakiev, Michael W. Kilpatrick, Iva Toudjarska et al. · The American Journal of Human Genetics · 2000 · 293 citations · Full text

Split-hand/split-foot Malformation Is, Thumb Hypoplasia, Developmental Anomaly +10

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 et al. · The Lancet · 2020 · 184 citations

Subcutaneous Vosoritide Therapy, Pediatrics, Multicentre Trial +2

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 et al. · Human Mutation · 2019 · 130 citations · Full text

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault et al. · The American Journal of Human Genetics · 2014 · 115 citations · Full text

Ocular Disease, Mendelian Disorder, Retinal Dystrophy +6

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 et al. · Prenatal Diagnosis · 2015 · 102 citations · Full text