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Call for neurofibromatosis specialty care clinics in South Carolina
Call for neurofibromatosis specialty care clinics in South Carolina
Grounded in patient input, this study assesses the perceived need for a dedicated multidisciplinary clinic for individuals...
Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases
Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases
To contribute to the diagnosis of genetic metabolic diseases in Brazil, an innovative model of networks has been set up, a...
The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening
The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening
Countries in the Global North use biochemical tests to screen for at least 20 diseases in newborns, while in the UK, only ...
The impact of the three major human genome editing reports on the governance landscape
The impact of the three major human genome editing reports on the governance landscape
In 2018, the scientific community was shocked by news that a rogue scientist’s genome editing of embryos had resulte...
Expedited workflow for autism spectrum disorder in a pediatric genetics clinic
Expedited workflow for autism spectrum disorder in a pediatric genetics clinic
With increasing demand for access to genetic services and the American College of Medical Genetics and Genomics’ (AC...
Enhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases
Enhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases
Patients with rare diseases often encounter significant challenges, including poor coordination of healthcare services. Th...
Attitudes of parents of children with rare neurological disorders towards clinical genetic testing
Attitudes of parents of children with rare neurological disorders towards clinical genetic testing
To study attitudes among parents of probands with rare pediatric-onset neurological and neurodevelopmental disorders on Cl...
Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio
Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio
In 50–60% of confirmed congenital hearing loss (HL) diagnoses, the etiology is genetic. The importance of a genetic ...
Empowerment of parents of infants with congenital heart disease after rapid genome sequencing
Empowerment of parents of infants with congenital heart disease after rapid genome sequencing
Despite rapid genome sequencing (rGS) being utilized as a first-tier genetic test for infants with congenital heart diseas...
Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye
Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye
Prenatal screening and diagnostic tests are complex procedures that have to be conducted within a limited timeframe and re...
Re-consent practices in biobanks in Japan: current status and stakeholder perspectives
Re-consent practices in biobanks in Japan: current status and stakeholder perspectives
Pediatric research in rare diseases relies on sharing biological specimens, clinical data, and analytical information amon...
Age-specific uptake of non-invasive prenatal tests (NIPT) in Germany: a decision theory-based analysis
Age-specific uptake of non-invasive prenatal tests (NIPT) in Germany: a decision theory-based analysis
Non-invasive prenatal testing (NIPT) for fetal chromosomal aberrations is an important component of healthcare systems wor...
Determinants of perception and willingness to uptake premarital screening test for sickle cell disease among health sciences undergraduate students in Dar es Salaam, Tanzania
Determinants of perception and willingness to uptake premarital screening test for sickle cell disease among health sciences undergraduate students in Dar es Salaam, Tanzania
Sickle cell disease (SCD) is a significant genetic disorder that imposes a considerable global health burden. The notable ...
Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns
Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns
A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a si...
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metaboli...
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Background and Objective: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is import...
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet avai...
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressiv...
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availabili...
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for sever...
Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications
Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications
Cardiovascular diseases, both inherited and familial, indicate a risk of early and preventable cardiovascular events for r...
Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature
Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature
The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining...
The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review
The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review
Polygenic scores (PGS) have been developed for cancer risk-estimation and show potential as tools to prompt earlier referr...
Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia
The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards gen...
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their pr...
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary a...
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey
Individuals affected with cancer predisposition (CPS) syndromes such as BRCA1, BRCA2 or Lynch syndrome (LS) are at an elev...
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
As one of the key tools on the precision medicine workbench, high-throughput genetic testing has enormous promise for impr...
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences
Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As ...
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics
Individualised treatment, including genetic services, calls for an increased role of primary healthcare practitioners (pHC...
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