The Experts below are selected from a list of 45081 Experts worldwide ranked by ideXlab platform
Miriam G. Blitzer - One of the best experts on this subject based on the ideXlab platform.
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technical standards and guidelines for the diagnosis of biotinidase deficiency
Genetics in Medicine, 2010Co-Authors: Tina M Cowan, Miriam G. Blitzer, Barry WolfAbstract:Disclaimer: These standards and guidelines are designed primarily as an educational resource for clinical laboratory Geneticists to help them provide quality laboratory genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory Geneticists should apply their own professional judgment to the specific clinical circumstance presented by the individual patient or specimen. It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines.
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The medical genetics workforce: An analysis of clinical geneticist subgroups
Genetics in Medicine, 2006Co-Authors: Judith A. Cooksey, Gaetano Forte, Judith Benkendorf, Patricia A Flanagan, Miriam G. BlitzerAbstract:Purpose: Clinical Geneticists with a Doctor of Medicine degree face challenges to meet the growing population demand for genetic services. This study was designed to assist the profession with workforce planning by identifying clinically relevant subgroups of Geneticists and describing their professional characteristics and clinical practices. Geneticists' patient care productivity is compared across subgroups and other medical specialists. Methods: Part of a comprehensive national study of genetic services and the health workforce, this study uses data from a 2003 survey of Geneticists certified by the American Board of Medical Genetics. This study includes 610 clinical Geneticists who spend at least 5% of their time in direct patient-care services. An iterative approach was used to identify five subgroups based on the types of new patients seen. We conducted a descriptive analysis of subgroups by demographic, training, professional, and practice characteristics. Results: The subgroups include general (36%), pediatric (28%), reproductive (15%), metabolic (14%), and adult (7%) Geneticists. Clinically relevant variations across subgroups were noted in training, professional, and practice parameters. Subgroups vary across patient care hours (median, 15–33 hours/week) and total weekly work hours (52–60 hours). New patient visits (mean, 222–900/year) are higher than follow-up patient visits (mean, 155–405) for all subgroups except metabolic Geneticists. Conclusion: Although many Geneticists practice as generalist Geneticists, this study provides an evidence base for distinguishing clinically relevant subgroups of Geneticists. Geneticists provide similar numbers of new patient visits and far fewer follow-up visits than other medical specialists. These findings are relevant to geneticist workforce planning.
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The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified Geneticists.
Genetics in Medicine, 2005Co-Authors: Judith A. Cooksey, Gaetano Forte, Judith Benkendorf, Miriam G. BlitzerAbstract:The state of the medical geneticist workforce: Findings of the 2003 survey of American Board of Medical Genetics certified Geneticists
Nancy J Mendelsohn - One of the best experts on this subject based on the ideXlab platform.
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Genetics evaluation for the etiologic diagnosis of autism spectrum disorders
Genetics in Medicine, 2008Co-Authors: G Bradley Schaefer, Nancy J MendelsohnAbstract:Over the past decade, the reported incidence of autism spectrum disorders has continued to increase. Coincident with this, the number of referrals to clinical Geneticists to identify the etiology has also dramatically increased. The reported diagnostic yield for autism spectrum disorders is commonly reported in the range of 6–15%. However, continued advances in genetic technology expand the diagnostic options available for these evaluations and presumably increase the diagnostic yield. The list of genetic and metabolic conditions that have been reported with an autism phenotype is quite extensive. In deciding on an evaluation plan, the clinical geneticist has the difficult task of balancing an ever-expanding list of available tests and possible diagnoses with the issues of cost, practicality, and expected yield. In this article, we discuss a strategy of a tiered evaluation of the etiology of autism. These recommendations use evidence-based conclusions from the current available literature and cumulative clinical experience.
Marsha L. Richmond - One of the best experts on this subject based on the ideXlab platform.
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Women as Mendelians and Geneticists
Science & Education, 2015Co-Authors: Marsha L. RichmondAbstract:After the rediscovery of Mendel’s laws of heredity in 1900, the biologists who began studying heredity, variation, and evolution using the new Mendelian methodology—performing controlled hybrid crosses and statistically analyzing progeny to note the factorial basis of characters—made great progress. By 1910, the validity of Mendelism was widely recognized and the field William Bateson christened ‘genetics’ was complemented by the chromosome theory of heredity of T. H. Morgan and his group in the United States. Historians, however, have largely overlooked an important factor in the early establishment of Mendelism and genetics: the large number of women who contributed to the various research groups. This article examines the social, economic, and disciplinary context behind this new wave of women’s participation in science and describes the work of women Mendelians and Geneticists employed at three leading experimental research institutes, 1900–1940. It argues that the key to more women working in science was the access to higher education and the receptivity of emerging interdisciplinary fields such as genetics to utilize the expertise of women workers, which not only advanced the discipline but also provided new opportunities for women’s employment in science.
Patrick J Willems - One of the best experts on this subject based on the ideXlab platform.
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l1 associated diseases clinical Geneticists divide molecular Geneticists unite
Human Molecular Genetics, 1997Co-Authors: Erik Fransen, Guy Van Camp, Lieve Vits, Patrick J WillemsAbstract:The neuronal cell adhesion molecule L1 (L1CAM) is a transmembrane glycoprotein belonging to the immunoglobulin superfamily and is essential in the development of the nervous system. It is mainly expressed on neurons and Schwann cells, and plays a key role in axon outgrowth and pathfinding through interactions with various extracellular ligands and intracellular second messenger systems. Mutations in L1 are responsible for a wide spectrum of neurologic abnormalities and mental retardation. This spectrum includes X-linked hydrocephalus, MASA syndrome, X-linked complicated spastic paraplegia type 1 and X-linked agenesis of the corpus callosum. These four diseases were initially described as distinct clinical entities with an overlapping clinical spectrum, but can now be lumped into one syndrome caused by mutations in the L1 gene. The main clinical features of this spectrum are Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus, which has led to the acronym CRASH syndrome.
Judith H Miles - One of the best experts on this subject based on the ideXlab platform.
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Autism spectrum disorders—A genetics review
Genetics in Medicine, 2011Co-Authors: Judith H MilesAbstract:: Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely by the complex behavioral phenotype. On the basis of the high-heritability index, Geneticists are confident that autism will be the first behavioral disorder for which the genetic basis can be well established. Although it was initially assumed that major genome-wide and candidate gene association studies would lead most directly to common autism genes, progress has been slow. Rather, most discoveries have come from studies of known genetic disorders associated with the behavioral phenotype. New technology, especially array chromosomal genomic hybridization, has both increased the identification of putative autism genes and raised to approximately 25%, the percentage of children for whom an autism-related genetic change can be identified. Incorporating clinical Geneticists into the diagnostic and autism research arenas is vital to the field. Interpreting this new technology and deciphering autism's genetic montage require the skill set of the clinical geneticist including knowing how to acquire and interpret family pedigrees, how to analyze complex morphologic, neurologic, and medical phenotypes, sorting out heterogeneity, developing rational genetic models, and designing studies. The current emphasis on deciphering autism spectrum disorders has accelerated the field of neuroscience and demonstrated the necessity of multidisciplinary research that must include clinical Geneticists both in the clinics and in the design and implementation of basic, clinical, and translational research.