Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Metaphyseal Dysplasia, Spahr Type; A Case Report of Variable Expressivity in Non-Consanguineous Filipino Siblings.
Panchapakesan K et al.
Journal of Orthopaedic Case Reports, 2022
Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.
Diaz Escagedo P et al.
Bmc Pediatrics, 2021
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Basel-Salmon L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafé L et al.
American Journal of Medical Genetics. Part A, 2014
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