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Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06376-4
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- Article
Histopathology of melanocytic lesions in a family with an inherited BAP1 mutation.
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- Journal of Cutaneous Pathology, 2016, v. 43, n. 3, p. 287, doi. 10.1111/cup.12625
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- Article
Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104281
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- Article
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.
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- Molecular Diagnosis & Therapy, 2017, v. 21, n. 6, p. 685, doi. 10.1007/s40291-017-0304-x
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- Article
Screening of potential novel candidate genes in schwannomatosis patients.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1368, doi. 10.1002/humu.24424
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- Article
Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface.
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- Human Mutation, 2014, v. 35, n. 4, p. 434, doi. 10.1002/humu.22490
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- Article
Extensive gene conversion at the PMS2 DNA mismatch repair locus.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 424, doi. 10.1002/humu.20457
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- Article
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome.
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- Oral Diseases, 2019, v. 25, n. 1, p. 182, doi. 10.1111/odi.12955
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- Article
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
- Published in:
- Human Mutation, 1997, v. 9, n. 6, p. 512, doi. 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3
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- Article
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-015-0265-z
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- Article