AHDC1 missense mutations in Xia-Gibbs syndrome

Autor: Khayat, Michael M., Hu, Jianhong, Jiang, Yunyun, Li, He, Chander, Varuna, Dawood, Moez, Hansen, Adam W., Li, Shoudong, Friedman, Jennifer, Cross, Laura, Bijlsma, Emilia K., Ruivenkamp, Claudia A.L., Sansbury, Francis H., Innis, Jeffrey W., Omark O’Shea, Jessica, Meng, Qingchang, Rosenfeld, Jill A., McWalter, Kirsty, Wangler, Michael F., Lupski, James R., Posey, Jennifer E., Murdock, David, Gibbs, Richard A.

Publikováno v: In Human Genetics and Genomics Advances 14 October 2021 2(4)

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RCL1copy number variants are associated with a range of neuropsychiatric phenotypes

Autor: Brownstein, Catherine A., Smith, Richard S., Rodan, Lance H., Gorman, Mark P., Hojlo, Margaret A., Garvey, Emily A., Li, Jianqiao, Cabral, Kristin, Bowen, Joshua J., Rao, Abhijit S., Genetti, Casie A., Carroll, Devon, Deaso, Emma A., Agrawal, Pankaj B., Rosenfeld, Jill A., Bi, Weimin, Howe, Jennifer, Stavropoulos, Dimitri J., Hansen, Adam W., Hamoda, Hesham M., Pinard, Ferne, Caracansi, Annmarie, Walsh, Christopher A., D’Angelo, Eugene J., Beggs, Alan H., Zarrei, Mehdi, Gibbs, Richard A., Scherer, Stephen W., Glahn, David C., Gonzalez-Heydrich, Joseph

Publikováno v: Molecular Psychiatry; May 2021, Vol. 26 Issue: 5 p1706-1718, 13p

Germline mutation in POLR2A : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.

Autor: Hansen AW; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Arora P; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Smith LJ; Department of Biochemistry and Biophysics, Texas A&M University, TX, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rossetti LZ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jayaseelan J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, USA., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, USA., DiTroia S; Broad Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Meeks N; Departments of Pediatrics and Genetics, University of Colorado School of Medicine, Aurora, CO, USA., Delgado MR; Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA., Pais L; Broad Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville 3052, VIC, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia., Meng Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA., Gingras MC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Kaplan CD; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Publikováno v: HGG advances [HGG Adv] 2021 Jan 14; Vol. 2 (1). Date of Electronic Publication: 2020 Nov 20.