Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Genetic Testing in Biopsy-Confirmed Kidney Disease.
Schmidt IM et al.
Kidney Medicine, 2025
40321977 (PubMed )
Supplement: mmc1.pdf
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.
Powis Z et al.
Cancer Genetics, 2018
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
Sarfati J et al.
European Journal of Endocrinology, 2013
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Fertility and Sterility, 2011
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.
Sarfati J et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Dodé C et al.
Plos Genetics, 2006
Select a paper to view details