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of 3
pro vyhledávání: '"Jordan Eboreime"'
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0158340 (2016)
We used targeted next generation deep-sequencing (Safe Sequencing System) to measure ultra-rare de novo mutation frequencies in the human male germline by attaching a unique identifier code to each target DNA molecule. Segments from three different h
Externí odkaz:
https://doaj.org/article/3e7cdcecb44741dda6d61c33fa63d38a
Autor:
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim
Publikováno v:
Human mutationREFERENCES. 43(12)
Some spontaneous germline gain-of-function mutations promote spermatogonial stem cell clonal expansion and disproportionate variant sperm production leading to unexpectedly high transmission rates for some human genetic conditions. To measure the fre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f1e478ed65103a502267d86747eb65
https://pubmed.ncbi.nlm.nih.gov/36349709
https://pubmed.ncbi.nlm.nih.gov/36349709
Publikováno v:
The American Journal of Human Genetics. (6):917-926
Noonan syndrome (NS) is among the most common Mendelian genetic diseases (∼1/2,000 live births). Most cases (50%–84%) are sporadic, and new mutations are virtually always paternally derived. More than 47 different sites of NS de novo missense mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91b77a966f86fa47812c7770c072fb43