How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners. [PDF]
, 2020 Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realize their potential, education of primary health-care practitioners will be required.
Evans, WRH +4 more
core +2 more sources
Genetics of autistic disorders : review and clinical implications [PDF]
, 2009 Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Duketis, Eftichia +4 more
core +4 more sources
New variants of ABCA12 in harlequin ichthyosis baby
Journal of Pediatric and Neonatal Individualized Medicine, 2018 Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto +5 more
doaj +1 more source
Advances in clinical genetics and genomics
Intelligent Medicine, 2021 Developments in genetics and genomics are progressing at an unprecedented speed. Twenty years ago, the human genome project provided the first glimpses into the human genome sequence and launched a new era of human genetics.
Sen Zhao +6 more
doaj +1 more source
An Introduction to Recursive Partitioning: Rationale, Application and Characteristics of Classification and Regression Trees, Bagging and Random Forests [PDF]
, 2009 Recursive partitioning methods have become popular and widely used tools for nonparametric regression and classification in many scientific fields. Especially random forests, that can deal with large numbers of predictor variables even in the presence of
Malley, James +2 more
core +1 more source
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]
, 2020 Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C +28 more
core +3 more sources
A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies
Frontiers in Cardiovascular Medicine, 2016 Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band,
Marta Gigli +9 more
doaj +1 more source
Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop
MedEdPORTAL, 2020 Introduction Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field.
Jodi D. Hoffman +3 more
doaj +1 more source
The role of the genetic counsellor: a systematic review of research evidence [PDF]
, 2014 In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser +27 more
core +1 more source
External quality assessment of molecular biology-based methods used in laboratories of clinical chemistry and human genetics [PDF]
, 1998 The Reference Institute of Bioanalysis of the German Society of Clinical Chemistry has performed the first external assessment of molecular genetics methods used in medical diagnosis.
Braun, Andreas +6 more
core +1 more source