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   Articles with "monogenic disorders" as a keyword



A Cell‐free DNA Barcode‐Enabled Single‐Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β‐Thalassemia

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recommendations! 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
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Expanded carrier screening for monogenic disorders: where are we now?

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recommendations! 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

Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis

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recommendations! Published in 2024 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6639

Abstract: Currently, the most commonly used methods for linkage analysis of pre‐implantation genetic testing for monogenic disorders (PGT‐M) are next generation sequencing (NGS) and SNP array. We aim to investigate whether the application efficacy of Asian… read more here.

Keywords: generation sequencing; monogenic disorders; next generation; array ... See more keywords

Compendium of causative genes and their encoded proteins for common monogenic disorders

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recommendations! 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

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recommendations! 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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recommendations! Published in 2017 at "Current Osteoporosis Reports"

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

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recommendations! 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

Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia

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recommendations! Published in 2024 at "Pediatric Hematology and Oncology"

DOI: 10.1080/08880018.2024.2395358

Abstract: Abstract Persistent thrombocytopenia is caused by various diseases, including immune thrombocytopenia, inherited thrombocytopenia, and inherited bone marrow failure syndromes. Considering the large number of genes responsible for inherited disorders, comprehensive genetic analysis is required to… read more here.

Keywords: monogenic disorders; thrombocytopenia; genetic analysis; inherited thrombocytopenia ... See more keywords

P0044THE BIOLOGICAL AND FUNCTIONAL CHARACTERISATION OF GENES RESPONSIBLE FOR MONOGENIC DISORDERS OF THE KIDNEY

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recommendations! 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

Migraine in monogenic disorders: Shedding light on new therapeutic targets

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recommendations! Published in 2025 at "Cephalalgia"

DOI: 10.1177/03331024251389241

Abstract: Background Migraine is a common neurological disorder with a strong genetic component, yet the precise mechanisms underlying its genetic susceptibility remain largely unknown. Genome-wide association studies (GWAS) have identified multiple risk loci, but monogenic forms… read more here.

Keywords: therapeutic targets; disorders shedding; monogenic disorders; migraine monogenic ... See more keywords

Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA

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recommendations! 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