Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Autor: Koemans TS; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Nijmegen, The Netherlands., Chubak MC; Department of Biology, Faculty of Science, Western University, London, Ontario, Canada., Stone MH; Department of Biology, Faculty of Science, Western University, London, Ontario, Canada.; Division of Genetics and Development, Children's Health Research Institute, London, Ontario, Canada., Reijnders MRF; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Nijmegen, The Netherlands., de Munnik S; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Nijmegen, The Netherlands., Willemsen MH; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Nijmegen, The Netherlands., Fenckova M; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Nijmegen, The Netherlands., Stumpel CTRM; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, the Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Centre, Veldhoven, The Netherlands., Sifuentes Saenz M; Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, Colorado., Byerly KA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Baughn LB; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, the Netherlands., Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Nijmegen, The Netherlands., Zhou H; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Molecular Developmental Biology, Radboud University, Nijmegen, The Netherlands., van Bokhoven H; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Nijmegen, The Netherlands., Schenck A; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Nijmegen, The Netherlands., Kramer JM; Department of Biology, Faculty of Science, Western University, London, Ontario, Canada.; Division of Genetics and Development, Children's Health Research Institute, London, Ontario, Canada.; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

Publikováno v: PLoS genetics [PLoS Genet] 2017 Oct 25; Vol. 13 (10), pp. e1006864. Date of Electronic Publication: 2017 Oct 25 (Print Publication: 2017).

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome.

Autor: Onesimo, R.^1,2,3 (AUTHOR), Sforza, E.² (AUTHOR) elisabetta.sforza@unicatt.it, Giorgio, V.^1,2,3 (AUTHOR), Rigante, D.^1,2,3 (AUTHOR), Kuczynska, E.¹ (AUTHOR), Leoni, C.^1,3 (AUTHOR), Proli, F.³ (AUTHOR), Agazzi, C.³ (AUTHOR), Limongelli, D.³ (AUTHOR), Cerchiari, A.⁴ (AUTHOR), Tartaglia, M.⁵ (AUTHOR), Zampino, G.^1,2,3 (AUTHOR)

Publikováno v: European Journal of Pediatrics. Apr2023, Vol. 182 Issue 4, p1869-1877. 9p. 1 Diagram, 3 Charts.

Cranial nerve abnormalities in CHARGE association.

Autor: Byerly KA; Department of Medical Genetics, University of Wisconsin, Madison., Pauli RM

Publikováno v: American journal of medical genetics [Am J Med Genet] 1993 Mar 15; Vol. 45 (6), pp. 751-7.

Escherichia coli metR mutants that produce a MetR activator protein with an altered homocysteine response.

Autor: Byerly KA; Department of Microbiology, University of Iowa, Iowa City 52242., Urbanowski ML, Stauffer GV

Publikováno v: Journal of bacteriology [J Bacteriol] 1990 Jun; Vol. 172 (6), pp. 2839-43.

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Autor: Hebert, Anne, Simons, Annet, Schuurs-Hoeijmakers, Janneke H. M., Koenen, Hans J. P. M., Zonneveld-Huijssoon, Evelien, Henriet, Stefanie S. V., Schatorjé, Ellen J. H., Hoppenreijs, Esther P. A. H., Leenders, Erika K. S. M., Janssen, Etienne J. M., Santen, Gijs W. E., de Munnik, Sonja A., van Reijmersdal, Simon V., van Rijssen, Esther, Kersten, Simone, Netea, Mihai G., Smeets, Ruben L., van de Veerdonk, Frank L., Hoischen, Alexander, van der Made, Caspar I.

Publikováno v: eLife; 11/4/2022, p1-24, 24p