“…The delivery models are classified in five categories according to the leading role of healthcare professionals in patient care pathways: i) the geneticist model; ii) the primary care model; iii) the medical specialist model; iv) the population screening program model; and v) the direct-to-consumer model. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In addition, valuable insights on sample homogenization, extraction, preservation, and transportation have been provided, which is of interest to every plant geneticist.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…CONCLUSIONS: Our findings suggest support for genomic testing among nephrologists, with a strong preference for a multidisciplinary model (involving a nephrologist, clinical geneticist, and genetic counselor). Broad-ranging interventions are urgently required to shift the current culture and ensure successful implementation of genomics in nephrology, including reducing knowledge gaps, increased funding and resources, disease-specific guidelines, and streamlining of testing processes.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Participants were enrolled from different hospitals in Bogotá, and they underwent a clinical assessment by a cardiologist and a clinical geneticist. RESULTS: CNVs in the 22q11.2 chromosomal region were found in 7 patients (21.9%). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In addition, delay in physical, motor, and mental development was observed and thus, at the age of five, the patient was consulted by a medical geneticist and a gene panel to test for structural heart defects was ordered. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…She had a planned pregnancy managed by a multidisciplinary team, which included a metabolic geneticist, maternal–fetal medicine specialist and metabolic dietitian. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In consultation with a geneticist, access to genomic testing (exome or genome sequencing) is now available in Australia under Medicare billing for children under the age of 10 with dysmorphic features, one or more major structural organ anomalies, (an evolving) intellectual disability or global developmental delay. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This leads to a decreased data accessibility for a relevant number of potential users such as clinicians, geneticist, and clinical researchers. Here, we present aRgus (https://argus.urz.uni-heidelberg.de/), a standalone webtool for simple extraction and intuitive visualization of multi-layered gene, protein, variant, and variant effect prediction data. aRgus provides interactive exploitation of these data within seconds for any known gene of the human genome. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Mainstream cancer genetic testing (MCG) was introduced for breast cancer patients in our unit in 2013. Non-geneticist clinicians have been trained to offer genetic testing during initial treatment planning. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…GPs were randomised to one of eight vignettes describing a hypothetical patient with Lynch syndrome recommended to take aspirin by a clinical geneticist. METHOD: Across the vignettes, the presence or absence of three types of information was manipulated: 1) existence of NICE guidance; 2) results from the CAPP2 trial; 3) information comparing risks/benefits of aspirin. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The daughter was referred to a geneticist at the age of 17 years because of seizures, dysmorphic features, and magnetic resonance imaging suggestive of leukodystrophy. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Successful diagnosis and management of these patients is challenging and requires multidisciplinary expertise, including confirmation of the diagnosis by a clinical geneticist.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…However, renal agenesis/hypoplasia and dysplasia still represents a challenge, both for the clinicians who attempt a precise diagnosis and for the geneticist who tries to unravel the genetic basis, and a better classification requires molecular definition to be retrospectively improved. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…DISCUSSION: UGET is an invaluable resource for a geneticist that permits the rapid inclusion of expression criteria from one to hundreds of genes in genomic intervals linked to disease. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The discrepancy between women's perceived probability of cancer genetic predisposition at T1 and the geneticist's computed estimates was assessed. RESULTS: In all, 74% of women received a negative uninformative (NU), 11% a positive BRCA1/2 and 15% an unclassified variant (UV) result. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Effective management of OI should be instituted through a multidisciplinary team approach that includes a bone specialist (usually an endocrinologist or rheumatologist), a geneticist, an audiometrist and a genetic counsellor. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…These data were used by a geneticist blinded to the diagnoses to test the efficiency of our software, PhenoVar. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…When ERS is suspected, the patient should be assessed by a dentist, nephrologist and clinical geneticist. Confirmed cases require long-term follow-up. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…After diagnosis of an oral cleft an in-depth medical examination and a consult by the pediatrician and clinical geneticist is imperative to instigate the appropriate medical management.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso