Associated Papers
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Priestley JRC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.
Mishra R et al.
Molecular Syndromology, 2020
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