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Search results
(1 - 24 of 79)
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De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
Clinical phenotype of FOXP1 syndrome
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases
Association between a 46-SNP polygenic risk score and melanoma risk in Dutch patients with familial melanoma
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma
New locus underlying auriculocondylar syndrome (ARCND)
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation
ATR-16 syndrome
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome
NEK11 as a candidate high-penetrance melanoma susceptibility gene
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