Variants in NR6A1 cause a novel oculo vertebral renal syndrome
Variants in NR6A1 cause an oculo-vertebral-renal (OVR) syndrome We identified three rare NR6A1 variants in three families affected…
Research, support and early diagnosis crucial for rare chromosome disorders | News
Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and…
First Awareness, Then Action: The Life-Saving Power Of Cancer Genetic Screening | Marketplace
Photo Caption: Dr. Shoshana Ungerleider, MD—San Francisco internist and jscreen.org board member—shares how hereditary testing saves lives during…
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children
In the present study, which aimed to collect the views of those involved regarding urGS and its implementation,…
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting…
The genetic basis of human height
Tanner, J. M. A History of the Study of Human Growth (Cambridge Univ. Press, 1981). Galton, F. Regression…