Journal Of Human Genetics

Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening

The somatic FAH C. 1061C>A change counteracts the frequent FAH c. 1062+5G>A mutation and permits U1snRNA-based splicing correction

NDUFS6 related Leigh syndrome: a case report and review of the literature

Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry

Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features