Medical Genetics Newswire

Medical Genetics Newswire

Comprehensive Real-Time News Feed for Medical Genetics.

Results 1 - 20 of 203 in Medical Genetics

  1. Postdoctoral / Graduate Student Positions - Medical GeneticsRead the original story

    Tuesday May 23 | Nature Neuroscience

    The laboratory of Dr. Toshifumi Yokota invites applications for postdoctoral fellow and graduate student positions in the Department of Medical Genetics at the University of Alberta. By utilizing integrative experimental and computational approaches, such as antisense oligonucleotides, /Cas9, and machine-learning programs, the focuses of our group are to develop novel molecular therapies for neuromuscular diseases and rare genetic diseases.

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  2. KMT2B rare missense variants in generalized dystonia.Read the original story

    Friday May 19 | CiteULike

    ... in described dystonia-mutated genes. After cosegregation testing, checklists from the American College of Medical Genetics and Genomics were adopted to judge variant pathogenicity. Three novel, predicted protein-damaging missense variants in KMT2B ...

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  3. The European Society of Human Genetics: beginnings, early history and ...Read the original story

    Wednesday May 10 | European Journal of Human Genetics

    Correspondence: Professor PS Harper, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales CF14 4XN, UK. E-mail: [email protected] The European Society of Human Genetics was founded on 15 March 1967, after preliminary discussions at the International Human Genetics Congress in Chicago the previous year and in Copenhagen in early 1967.

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  4. Genomic Vision: Report of The Ivd R&D Day of 10 May 2017Read the original story w/Photo

    Monday May 15 | Business Wire

    ... region. This work is ongoing and we hope to have results over the coming year." Pr Nicolas Levy, Head of Medical Genetics department at the Children's Hospital La Timone (Marseille, France) was next to speak for its presentation on the diagnostic ...

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  5. Sensory modulation impairments in children with Williams syndrome.Read the original story

    Monday May 15 | CiteULike

    American journal of medical genetics. Part C, Seminars in medical genetics , Vol.

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  6. How might ZNF804A variants influence risk for schizophrenia and...Read the original story

    Saturday May 13 | CiteULike

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , Vol.

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  7. Bioinformatic analyses and conceptual synthesis of evidence linking...Read the original story

    Saturday May 13 | CiteULike

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , Vol.

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  8. Integrating Gene Expression with Summary Association Statistics to...Read the original story

    Thursday May 11 | CiteULike

    To insert individual citation into a bibliography in a word-processor, select your preferred citation style below and drag-and-drop it into the document. Although genome-wide association studies have identified thousands of risk loci for many complex traits and diseases, the causal variants and genes at these loci remain largely unknown.

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  9. Story from NorthCountryNow.comRead the original story

    Thursday May 11 | North Country Now

    ... Scheper, Leslie Russek, and Jane V. Simmonds was published in the March 2017 issue of American Journal of Medical Genetics. Russek has three more recent publications dealing with chronic pain that came from her 2014-2015 sabbatical in Australia, ...

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  10. Some pioneers of European human geneticsRead the original story

    Wednesday May 10 | European Journal of Human Genetics

    Correspondence: Professor PS Harper, University Research Professor in Human Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, Wales, UK. Tel: + 44 2920753546; E-mail: [email protected] Some of the pioneers of human genetics across Europe are described, based on a series of 100 recorded interviews made by the author.

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  11. Study: Genetic tests often overused and misinterpretedRead the original story w/Photo

    Tuesday May 9 | PhysOrg Weblog

    ... the San Diego naval team's results roughly track with another study, published in the American Journal of Medical Genetics in 2014, which found that 26 percent of genetic tests were wrongly ordered when researchers analyzed 21 months of genetic test ...

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  12. 3 years after open letter alleged Gaza 'massacre,' Lancet eyes Israeli healthRead the original story w/Photo

    Tuesday May 9 | The Times of Israel

    ... the country's health care system, improving health, and addressing health inequalities, digital health, medical genetics, medical education and women and health among others. The series of Israel articles was led by Ben-Gurion University of the ...

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  13. Systematic Computational Identification of Variants That Activate...Read the original story

    Sunday May 7 | CiteULike

    To insert individual citation into a bibliography in a word-processor, select your preferred citation style below and drag-and-drop it into the document. We developed a variant-annotation method that combines sequence-based machine-learning classification with a context-dependent algorithm for selecting splice variants.

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  14. Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319.Read the original story

    Sunday May 7 | CiteULike

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , Vol.

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  15. A family-based association analysis and meta-analysis of the reading...Read the original story

    Sunday May 7 | CiteULike

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , Vol.

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  16. InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.Read the original story

    Friday May 5 | CiteULike

    To insert individual citation into a bibliography in a word-processor, select your preferred citation style below and drag-and-drop it into the document. In 2015, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology published updated standards and guidelines for the clinical interpretation of sequence variants with respect to human diseases on the basis of 28 criteria.

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  17. The House Health Plan Makes Your Genes a Preexisting ConditionRead the original story w/Photo

    Thursday May 4 | Wired

    Of all the provisions of the Affordable Care Act - " Obamacare ," if you're on a first-name basis - the one that seemed the most uncontroversially humane was the guarantee that insurance companies could not use so-called preexisting conditions to deny coverage. If you had a chronic illness or had recovered from something and lost your insurance, or if you quit or got fired, you could still get onto a plan.

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  18. A novel TRPS1 mutation in a Moroccan family with...Read the original story w/Photo

    Tuesday May 2 | BioMed Central

    ... with a more pronounced features of the syndrome. A 13 years old girl was referred to the department of medical genetics in Rabat for short stature and brachydactyly. No prenatal investigations had been performed and the motor development was normal. ...

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  19. Amicus Launches Galafold (Migalastat) For Treatment Of Fabry Disease In FranceRead the original story

    Monday May 1 | BioSpace

    ... (an estimated 35% to 50% of the Fabry population). Prof. Dominique P. Germain, MD, PhD, Division of Medical Genetics at the University of Versailles and Assistance Publique - HA pitaux de Paris stated, "As a treating physician, and principal ...

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  20. Amicus Therapeutics Launches Galafolda (Migalastat) for Treatment of Fabry Disease in FranceRead the original story

    Tuesday May 2 | Customer Interaction Solutions

    ... (an estimated 35% to 50% of the Fabry population). Prof. Dominique P. Germain, MD, PhD, Division of Medical Genetics at the University of Versailles and Assistance Publique - HA pitaux de Paris stated, "As a treating physician, and principal ...

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