13 research outputs found
Additional file 2: Table S2. of Revisiting the morbid genome of Mendelian disorders
Reclassified ClinVar variants based on high MAF in public databases. (PDF 194 kb
Mechanistic study of molecular hydrogen formation from photocatalysis of formaldehyde in H2O and D2O
Reclassified HGMD variants based on MAF of 0.01 threshold and lack of phenotype in homozygotes. (PDF 273 kb
Injection repair of composites for automotive and aerospace applications
Reclassified ClinVar variants based on lack of phenotype in homozygotes BS2-only variants. (PDF 154 kb
Additional file 4: Table S4. of Revisiting the morbid genome of Mendelian disorders
Reclassified ClinVar variants based on high MAF in the SHGP database despite low MAF in public databases. (PDF 127 kb
Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
Clinical characteristics and biopsy results of index cases for families studied. (DOCX 223 kb
Additional file 2: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
Genes included in the neurological panel. (DOC 97 kb
Additional file 2: Table S3. of Characterizing the morbid genome of ciliopathies
Clinical and genomic data for all cases in the study. (XLSX 83 kb
Additional file 5: Table S4. of Characterizing the morbid genome of ciliopathies
Identification of TXNDC15 interacting proteins using tandem affinity purification (TAP). The list of 224 unique proteins is significantly enriched in known or predicted ciliary proteins. (XLSX 30 kb
Additional file 1: Figure S1. of Characterizing the morbid genome of ciliopathies
Bar graph showing the percentage of the main features for each distinct ciliopathy syndrome. (PPTX 70 kb
Additional file 3: of Characterizing the morbid genome of ciliopathies
Supplemental clinical data: clinical details for the affected cases with mutations in novel candidate genes. (DOCX 35 kb