Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

Autor: Slavotinek, Anne, van Hagen, Johanna M., Kalsner, Louisa, Pai, Shashidhar, Davis-Keppen, Laura, Ohden, Lisa, Weber, Yvonne G., Macke, Erica L., Klee, Eric W., Morava, Eva, Gunderson, Lauren, Person, Richard, Liu, Shuxi, Weiss, Marjan

Publikováno v: In European Journal of Medical Genetics April 2020 63(4)

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Autor: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana PG, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren DM, Undiagnosed Diseases Network, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny EV, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 5

PurposeDetermination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND).MethodsFifty GAND subjects were evaluated to determine consistent genotypic/phenotypic features. Immunoprecipitation assays utilizing in vi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::012a425c4f21d223cfb0c8ce9df2c238
https://escholarship.org/uc/item/7683d0mf

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Autor: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P. G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, M. J., Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D. M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E. V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark

Publikováno v: Genetics in Medicine; April 2020, Vol. 22 Issue: 4 p822-822, 1p

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Autor: Fliedner A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Kirchner P; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., van de Beek I; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands., Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands., van Haelst M; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Dutra-Clarke M; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA., Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA., Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA., Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA., Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10019, USA., Alkelai A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10019, USA., Aggarwal V; Institute for Genomic Medicine and Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10019, USA., Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98195, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Straussberg R; Neurogenetics Clinic, Neurology Unit, Schneider Children's Medical Center, Petah Tikva 49202, Israel; Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv 69978, Israel., Cohen R; Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv 69978, Israel; Neurology Institute and Epilepsy Center, Schneider Children's Medical Center, Petah Tikva 49202, Israel., Horist B; Pediatrics and Genetics, Alpharetta, GA 30005, USA., Krishnamurthy V; Pediatrics and Genetics, Alpharetta, GA 30005, USA., McWalter K; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Juusola J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Davis-Keppen L; University of South Dakota, Sanford School of Medicine, Sioux Falls, SD 57105, USA., Ohden L; University of South Dakota, Sanford School of Medicine, Sioux Falls, SD 57105, USA., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands., de Man SA; Department of Pediatrics, Amphia Hospital, 4818 CK Breda, the Netherlands., Ekici AB; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., van de Laar I; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address: christiane.zweier@uk-erlangen.de.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 544-554. Date of Electronic Publication: 2020 Jul 29.