Associated Papers
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.
Woods E et al.
American Journal of Medical Genetics. Part A, 2025
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE et al.
Intensive Care Medicine, 2019
30847515 (PubMed )
Supplement: 134_2019_5552_MOESM1_ESM.pdf
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