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  1. 1021
    “…This is the first large-scale atom-based structural interpretation of human genetic variation and offers geneticists and the biomedical community a new approach to genetic variant interpretation. …”
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    Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants
  2. 1022
    “…A multidisciplinary team (MDT; ophthalmologists, physicians, geneticists, genetic counsellors) reconciled phenotype with genotype. …”
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    Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
  3. 1023
    “…ABSTRACT: The molecular mechanism of flowering time regulation in lettuce is of interest to both geneticists and breeders because of the extensive impact of this trait on agricultural production. …”
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    Quantitative Trait Loci and Candidate Genes Associated with Photoperiod Sensitivity in Lettuce (Lactuca spp.)
  4. 1024
    “…SETTING & PARTICIPANTS: An essential component of our program is the Nephrology Genomics Board which consists of nephrologists, geneticists, pathologists, translational omics scientists, and trainees who interpret the patient’s clinical and genetic data. …”
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    Genomics Integration Into Nephrology Practice
  5. 1025
    “…RESULTS: Thirty-five professionals participated and included genetic counselors (n = 12), geneticists (n = 9), oncologists (n = 4), family doctors (n = 3), lab directors and scientists (n = 3), a health-system decision maker, a surgeon, a pathologist, and a nurse. …”
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    “Game Changer”: Health Professionals’ Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management
  6. 1026
    “…We suggest that communication should occur preferably before 18 years of age by a multidisciplinary team (endocrinologists, psychologists, geneticists, and parents) and that the information should deal not only fertility and hormonal aspects but also metabolic and cognitive features. …”
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    Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?
  7. 1027
    “…Additionally, professionally trained geneticists must be employed as genetic counsellors so that the results of genetic tests and their implications can be explained to donors.…”
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    Genetic testing of sperm donors in China: a survey of current practices
  8. 1028
    “…Discussion: GeNetOntology will assist geneticists and scientists to identify a range of disease-related genes and ontologies in transcriptomic data analysis, and it will also help doctors design diagnosis platforms and improve patient treatment plans.…”
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    GeNetOntology: identifying affected gene ontology terms via grouping, scoring, and modeling of gene expression data utilizing biological knowledge-based machine learning
  9. 1029
    “…Collaboration between child psychiatrists and geneticists remains essential to detect, link their clinical evaluation and optimize care. …”
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    16p13.11 microduplication including NDE1 gene in autism spectrum disorder: A case report
  10. 1030
    por Verma, Amit S, FitzPatrick, David R
    Publicado 2007
    “…Patients are often managed within multi-disciplinary teams consisting of ophthalmologists, paediatricians and/or clinical geneticists, especially for syndromic cases. Treatment is directed towards maximising existing vision and improving cosmesis through simultaneous stimulation of both soft tissue and bony orbital growth. …”
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    Anophthalmia and microphthalmia
  11. 1031
    “…We believe that this knowledge will assist clinical geneticists and treating physicians when advising patients and their families, will provide a rapid and convenient resource for research scientists, and may eventually assist in gaining novel insights into FH and its related clinical syndromes.…”
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    The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency
  12. 1032
    “…BACKGROUND: Human geneticists are now capable of measuring more than one million DNA sequence variations from across the human genome. …”
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    Accelerating epistasis analysis in human genetics with consumer graphics hardware
  13. 1033
    “…Four years after operation her evolution is normal, without symptoms and the neovagina is adequately functional. The geneticists have studied her family history and the pedigree of the family is shown. …”
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    Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report
  14. 1034
    “…It constitutes a platform for data storage and for drastic screening of clinical relevant genetics variations by non-programmer geneticists. Thereby, it provides a response to new needs at the expanding era of medical genomics investigated by WES for both fundamental research and clinical diagnostics.…”
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    EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics
  15. 1035
    “…BACKGROUND: Geneticists who look beyond single locus disease associations require additional strategies for the detection of complex multi-locus effects. …”
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    GAMETES: a fast, direct algorithm for generating pure, strict, epistatic models with random architectures
  16. 1036
    por Qu, Jingtao, Liu, Jian
    Publicado 2013
    “…Simple sequence repeats (SSRs) are widely used as molecular markers in maize genetics and breeding, but only two thousands pairs of SSRs have been published currently, which hardly satisfies for the increasing needs of geneticists and breeders. Furthermore, the increasing studies have revealed that SSRs also play a vital role in functional regulation and evolution. …”
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    A genome-wide analysis of simple sequence repeats in maize and the development of polymorphism markers from next-generation sequence data
  17. 1037
    “…A panel of medical oncologists, cancer geneticists and genetic counselors retrospectively grouped these patients (N = 111) based on probability of possessing a potentially inherited mutation in a cancer susceptibility gene, both prior to and after incorporating tumor-only NGS results. …”
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    Tumor genome analysis includes germline genome: Are we ready for surprises?
  18. 1038
    “…In multivariate analyses, controlling for gender and country, data entry time was perceived as longer by genetic counsellors than clinical geneticists (p < 0.05). Respondents who (1) considered hormonal BC risk factors as more important (p < 0.01), and (2) communicated numerical risk estimates more frequently (p < 0.001), judged BWA v3 of lower clinical utility. …”
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    Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries
  19. 1039
    “…Given the breadth of these facial imaging techniques, it is not surprising that a broad array of subject-matter experts participate in and/or contribute to the formulation and implementation of these methods (including forensic odontologists, forensic artists, police officers, electrical engineers, anatomists, geneticists, medical image specialists, psychologists, computer graphic programmers and software developers). …”
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    An overview of the latest developments in facial imaging
  20. 1040
    “…The GAS5 story has drawn in contributions from prominent molecular geneticists who attempted to define its tumor suppressor function in mechanistic terms. …”
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    The Growth-Arrest-Specific (GAS)-5 Long Non-Coding RNA: A Fascinating lncRNA Widely Expressed in Cancers
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