American Journal of Medical Genetics Part A

Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway

Abstract Background International guidelines recommend hereditary thoracic aortic diseases (HTADs) to be managed in multidisciplinary aorta clinics. Aim To study HTAD patient's experiences with a aortopathy clinic in Norway and to review the literature on aortopathy clinics. Methods (a) A systematic scoping review of research on multidisciplinary clinics for HTADs. (b) A cross‐sectional postal questionnaire study to investigate patient experiences with the health‐services. Fifty consecutive...

American Journal of Medical Genetics Part A

Wed Aug 19, 2020 12:51

Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review

Abstract Rare loss of function variants in DSP, which codes for the desmosomal protein desmoplakin, have been implicated in dilated and arrhythmogenic right ventricular cardiomyopathies. We present a family with arrhythmogenic cardiomyopathy associated with a novel missense variant in DSP (NM_004415.4): c.877G>A, p.(Glu293Lys). The phenotype is characterized by predominant involvement of the left ventricle with systolic dysfunction, fibrosis, and life‐threatening arrhythmias. We performed a systematic...

American Journal of Medical Genetics Part A

Tue Aug 18, 2020 13:26

Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability

American Journal of Medical Genetics Part A

Tue Aug 18, 2020 11:35

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 G3: .Genes, Genomes, Genetics Mission - Online First Articles

Rapid Self-Selecting and Clone-Free Integration of Transgenes into Engineered CRISPR Safe Harbor Locations in Caenorhabditis elegans

Precision genome editing for model organisms has revolutionized functional analysis and validation of a wide variety of molecular systems. To date, the capacity to insert single-copy transgenes into the model nematode Caenorhabditis eleganshas focused on utilizing either transposable elements or CRISPR-based safe harbor strategies. These methods require plate-level screening processes to avoid selecting heritable extrachromosomal arrays or rely on co-CRISPR markers to identify knock-in events. As...

G3: .Genes, Genomes, Genetics Mission - Online First Articles

Wed Aug 19, 2020 23:32

Genomic Prediction and Selection for Fruit Traits in Winter Squash

Improving fruit quality is an important but challenging breeding goal in winter squash. Squash breeding in general is resource-intensive, especially in terms of space, and the biology of squash makes it difficult to practice selection on both parents. These restrictions translate to smaller breeding populations and limited use of greenhouse generations, which in turn, limits genetic gain per breeding cycle and increases cycle length. Genomic selection is a promising technology for improving breeding...

G3: .Genes, Genomes, Genetics Mission - Online First Articles

Wed Aug 19, 2020 23:32

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