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Best practices for the interpretation and reporting of clinical whole genome sequencing.

Autor: Austin-Tse CA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. ctse@mgh.harvard.edu.; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA. ctse@mgh.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ctse@mgh.harvard.edu., Jobanputra V; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Perry DL; Illumina Inc., San Diego, CA, USA., Bick D; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Taft RJ; Illumina Inc., San Diego, CA, USA., Venner E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Young T; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Barnett S; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Belmont JW; Illumina Inc., San Diego, CA, USA., Boczek N; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Chowdhury S; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Ellsworth KA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Guha S; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA., Kulkarni S; Baylor Genetics and Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Marcou C; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Meng L; Baylor Genetics and Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Murdock DR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rehman AU; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA., Spiteri E; Department of Pathology, Stanford Medicine, Stanford University, Stanford, CA, USA., Thomas-Wilson A; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2022 Apr 08; Vol. 7 (1), pp. 27. Date of Electronic Publication: 2022 Apr 08.

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

Autor: Long, Xicui^1,2 (AUTHOR), Xiong, Wenyu^1,2 (AUTHOR), Wang, Xuegang^1,2 (AUTHOR), Geng, Jia^1,2 (AUTHOR), Zhong, Mingjun^1,2 (AUTHOR), Huang, Yu^1,2 (AUTHOR), Liu, Man^1,2 (AUTHOR), Bu, Fengxiao^1,2 (AUTHOR), Cheng, Jing^1,2 (AUTHOR), Lu, Yu^1,2 (AUTHOR) samuelluyu@163.com, Yuan, Huijun^1,2 (AUTHOR) yuanhj301@163.com

Publikováno v: BMC Medical Genomics. 8/9/2024, Vol. 17 Issue 1, p1-9. 9p.

Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.

Autor: Scacchi, Simone¹ (AUTHOR), Pavarino, Luca F.² (AUTHOR) luca.pavarino@unipv.it, Mazzanti, Andrea^3,4,5 (AUTHOR), Trancuccio, Alessandro^3,4,5 (AUTHOR), Priori, Silvia G.^3,4,5 (AUTHOR), Colli Franzone, Piero² (AUTHOR)

Publikováno v: PLoS ONE. 7/5/2024, Vol. 19 Issue 7, p1-21. 21p.

Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants.

Autor: Nishi, Eriko¹ (AUTHOR) nishieriko@gmail.com, Yanagi, Kumiko² (AUTHOR), Kaname, Tadashi² (AUTHOR), Okamoto, Nobuhiko¹ (AUTHOR)

Publikováno v: Molecular Genetics & Genomic Medicine. Feb2024, Vol. 12 Issue 2, p1-9. 9p.