Hila Fridman

Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants

<i>TP53</i> missense allele predisposing to high risk of breast cancer but not pediatric cancers

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

Performance comparison: exome sequencing as a single test replacing Sanger sequencing

Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia