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Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Not available
S-EPMC5836855
|
biostudies-literature
Cite
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
Not available
S-EPMC8755508
|
biostudies-literature
Cite
Large-scale discovery of novel genetic causes of developmental disorders.
Not available
S-EPMC5955210
|
biostudies-literature
Cite
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Not available
S-EPMC5392243
|
biostudies-literature
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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Not available
S-EPMC6848993
|
biostudies-literature
Cite
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Not available
S-EPMC5023955
|
biostudies-literature
Cite
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Not available
S-EPMC4392068
|
biostudies-literature
Cite
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Not available
S-EPMC8460445
|
biostudies-literature
Cite
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Not available
S-EPMC5778085
|
biostudies-literature
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Prevalence and architecture of de novo mutations in developmental disorders.
Not available
S-EPMC6016744
|
biostudies-literature
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