SemOpenAlex |

SemOpenAlex

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4287147811> ?p ?o ?g. }

Showing items 1 to 100 of ±221 with 100 items per page.

W4287147811 endingPage "242" @default.
W4287147811 startingPage "231" @default.
W4287147811 abstract "Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic disease can help to strategize treatment options and clinical preventive measures during the perinatal period, to plan in utero therapies, and to inform parental decision-making. Fetal phenotypes of genetic diseases are often unique and at present are not well understood; more comprehensive knowledge about prenatal phenotypes and computational resources have an enormous potential to improve diagnostics and translational research. The Human Phenotype Ontology (HPO) has been widely used to support diagnostics and translational research in human genetics. To better support prenatal usage, the HPO consortium conducted a series of workshops with a group of domain experts in a variety of medical specialties, diagnostic techniques, as well as diseases and phenotypes related to prenatal medicine, including perinatal pathology, musculoskeletal anomalies, neurology, medical genetics, hydrops fetalis, craniofacial malformations, cardiology, neonatal-perinatal medicine, fetal medicine, placental pathology, prenatal imaging, and bioinformatics. We expanded the representation of prenatal phenotypes in HPO by adding 95 new phenotype terms under the Abnormality of prenatal development or birth (HP:0001197) grouping term, and revised definitions, synonyms, and disease annotations for most of the 152 terms that existed before the beginning of this effort. The expansion of prenatal phenotypes in HPO will support phenotype-driven prenatal exome and genome sequencing for precision genetic diagnostics of rare diseases to support prenatal care." @default.
W4287147811 created "2022-07-25" @default.
W4287147811 creator A5000691453 @default.
W4287147811 creator A5005420349 @default.
W4287147811 creator A5007042261 @default.
W4287147811 creator A5009950897 @default.
W4287147811 creator A5010311151 @default.
W4287147811 creator A5011505060 @default.
W4287147811 creator A5014838557 @default.
W4287147811 creator A5016828936 @default.
W4287147811 creator A5016974412 @default.
W4287147811 creator A5020772193 @default.
W4287147811 creator A5021778115 @default.
W4287147811 creator A5027355514 @default.
W4287147811 creator A5027635629 @default.
W4287147811 creator A5030784929 @default.
W4287147811 creator A5030896335 @default.
W4287147811 creator A5033150891 @default.
W4287147811 creator A5033225381 @default.
W4287147811 creator A5035605506 @default.
W4287147811 creator A5035976517 @default.
W4287147811 creator A5042601759 @default.
W4287147811 creator A5043203987 @default.
W4287147811 creator A5050654497 @default.
W4287147811 creator A5051708897 @default.
W4287147811 creator A5053224290 @default.
W4287147811 creator A5057646007 @default.
W4287147811 creator A5058738161 @default.
W4287147811 creator A5060022400 @default.
W4287147811 creator A5063035887 @default.
W4287147811 creator A5070169847 @default.
W4287147811 creator A5071533846 @default.
W4287147811 creator A5075774331 @default.
W4287147811 creator A5079876406 @default.
W4287147811 creator A5080134050 @default.
W4287147811 creator A5081527302 @default.
W4287147811 creator A5084413510 @default.
W4287147811 creator A5086465925 @default.
W4287147811 date "2022-06-01" @default.
W4287147811 modified "2023-10-17" @default.
W4287147811 title "Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology" @default.
W4287147811 cites W1221682153 @default.
W4287147811 cites W1495912443 @default.
W4287147811 cites W1505075301 @default.
W4287147811 cites W1540773722 @default.
W4287147811 cites W1552325500 @default.
W4287147811 cites W1925852226 @default.
W4287147811 cites W1964255443 @default.
W4287147811 cites W1980518631 @default.
W4287147811 cites W1981705227 @default.
W4287147811 cites W1996383859 @default.
W4287147811 cites W2012361142 @default.
W4287147811 cites W2025349319 @default.
W4287147811 cites W2030891779 @default.
W4287147811 cites W2040712196 @default.
W4287147811 cites W2048024098 @default.
W4287147811 cites W2069496893 @default.
W4287147811 cites W2111707517 @default.
W4287147811 cites W2121484182 @default.
W4287147811 cites W2127006085 @default.
W4287147811 cites W2130011177 @default.
W4287147811 cites W2131894423 @default.
W4287147811 cites W2136139906 @default.
W4287147811 cites W2136410628 @default.
W4287147811 cites W2144967747 @default.
W4287147811 cites W2150417477 @default.
W4287147811 cites W2159907330 @default.
W4287147811 cites W2160971829 @default.
W4287147811 cites W2199185488 @default.
W4287147811 cites W2246559112 @default.
W4287147811 cites W2272951769 @default.
W4287147811 cites W2510298658 @default.
W4287147811 cites W2518901523 @default.
W4287147811 cites W2557385283 @default.
W4287147811 cites W2558643140 @default.
W4287147811 cites W2616340994 @default.
W4287147811 cites W2617609986 @default.
W4287147811 cites W2625079038 @default.
W4287147811 cites W2705861159 @default.
W4287147811 cites W2729734683 @default.
W4287147811 cites W2762508685 @default.
W4287147811 cites W2769129618 @default.
W4287147811 cites W2789877489 @default.
W4287147811 cites W2795315061 @default.
W4287147811 cites W2795749588 @default.
W4287147811 cites W2805193585 @default.
W4287147811 cites W2898031839 @default.
W4287147811 cites W2901332105 @default.
W4287147811 cites W2910583407 @default.
W4287147811 cites W2912938672 @default.
W4287147811 cites W2950077492 @default.
W4287147811 cites W2963720509 @default.
W4287147811 cites W2975298736 @default.
W4287147811 cites W3003209623 @default.
W4287147811 cites W3022138882 @default.
W4287147811 cites W3023178879 @default.
W4287147811 cites W3031191781 @default.
W4287147811 cites W3047173169 @default.