A Cell‐free DNA Barcode‐Enabled Single‐Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β‐Thalassemia
Sign Up to like & getrecommendations! Published in 2019 at "Advanced Science"
DOI: 10.1002/advs.201802332
Abstract: Abstract Noninvasive prenatal testing of common aneuploidies has become routine over the past decade, but testing of monogenic disorders remains a challenge in clinical implementation. Most recent studies have inherent limitations, such as complicated procedures,… read more here.
Keywords: molecule; monogenic disorders; barcode enabled; free dna ... See more keywords
Expanded carrier screening for monogenic disorders: where are we now?
Sign Up to like & getrecommendations! Published in 2018 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5109
Abstract: Expanded carrier screening (ECS), which can identify carriers of a large number of recessive disorders in the general population, has grown in popularity and is now widely accessible to prospective parents. This article presents a… read more here.
Keywords: carrier screening; screening monogenic; monogenic disorders; expanded carrier ... See more keywords
Compendium of causative genes and their encoded proteins for common monogenic disorders
Sign Up to like & getrecommendations! Published in 2021 at "Protein Science"
DOI: 10.1002/pro.4183
Abstract: A compendium is presented of inherited monogenic disorders that have a prevalence of >1:20,000 in the human population, along with their causative genes and encoded proteins. “Simple” monogenic diseases are those for which the clinical… read more here.
Keywords: compendium causative; genes encoded; monogenic disorders; causative genes ... See more keywords
Transfer of embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M): experience of two high-volume fertility clinics
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-019-01538-2
Abstract: To assess the experiences of two large fertility clinics in which embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M) were transferred upon patient request, in order to explore the nature of… read more here.
Keywords: positive results; monogenic disorders; fertility clinics; transfer embryos ... See more keywords
Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility
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DOI: 10.1007/s11914-017-0388-6
Abstract: Purpose of ReviewThis review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings.Recent FindingsAdvances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic… read more here.
Keywords: discoveries monogenic; monogenic disorders; primary osteoporosis; recent discoveries ... See more keywords
Comprehensive workflow for PGT by NGS: detection of aneuploidies, monogenic disorders and balanced translocations from a single biopsy
Sign Up to like & getrecommendations! Published in 2019 at "Reproductive BioMedicine Online"
DOI: 10.1016/j.rbmo.2019.03.023
Abstract: Introduction Next Generation Sequencing (NGS) has entered in reproductive genetics for PGT-A with a great success. However, no solution for other alterations such as monogenic disorders and detection of balanced translocations has been developed. We… read more here.
Keywords: monogenic disorders; pgt; single biopsy; analysis ... See more keywords
P0044THE BIOLOGICAL AND FUNCTIONAL CHARACTERISATION OF GENES RESPONSIBLE FOR MONOGENIC DISORDERS OF THE KIDNEY
Sign Up to like & getrecommendations! Published in 2020 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfaa144.p0044
Abstract: Single mutations in over 620 genes are known as drivers of approximately 330 monogenic disorders of the kidney. These disorders are estimated to account for up to 10% of chronic kidney disease cases. Due to… read more here.
Keywords: disorders kidney; monogenic disorders; analysis; expression ... See more keywords
Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0269628
Abstract: Genetic disease burden in ancient communities has barely been evaluated despite an ever expanding body of ancient genomes becoming available. In this study, we inspect 2729 publicly available ancient genomes (100 BP—52000 BP) for the… read more here.
Keywords: associated monogenic; pathogenic variants; ancient dna; monogenic disorders ... See more keywords