A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia

Autor: Dyment, D.A., Backman, K., Mears, W.E., Waheeb, A., Beaulieu Bergeron, M., McClintock, J., de Nanassy, J., Reisman, J., Osmond, M., Hartley, T., Mears, A.J., Kernohan, K.D.

Publikováno v: In European Journal of Medical Genetics May 2021 64(5)

A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype.

Autor: Vincent KM; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Stavropoulos DJ; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Beaulieu-Bergeron M; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Yang C; Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA., Jiang M; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Canada., Zuijdwijk C; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Canada., Dyment DA; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Graham GE; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Aug; Vol. 188 (8), pp. 2421-2428. Date of Electronic Publication: 2022 May 20.

A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia.

Autor: Backman K; Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, Canada., Mears WE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Waheeb A; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Beaulieu Bergeron M; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, ON, Canada., McClintock J; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., de Nanassy J; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Reisman J; Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Mears AJ; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2021 May; Vol. 64 (5), pp. 104193. Date of Electronic Publication: 2021 Mar 18.

ALU transposition induces familial hypertrophic cardiomyopathy.

Autor: Nfonsam L; CHEO, Ottawa, Canada., Huang L; CHEO, Ottawa, Canada., Carson N; CHEO, Ottawa, Canada., McGowan-Jordan J; CHEO, Ottawa, Canada.; University of Ottawa, Ottawa, Canada., Beaulieu Bergeron M; CHEO, Ottawa, Canada.; University of Ottawa, Ottawa, Canada., Goobie S; Dalhousie University, Halifax, Canada., Conacher S; London Health Sciences Centre, London, Canada., McCarty D; Western University, London, Canada., Benson L; The Hospital for Sick Children, Toronto, Canada., Hewson S; The Hospital for Sick Children, Toronto, Canada., Zahavich L; The Hospital for Sick Children, Toronto, Canada., Sinclair-Bourque E; CHEO, Ottawa, Canada., Smith A; CHEO, Ottawa, Canada.; University of Ottawa, Ottawa, Canada., Potter R; CHEO, Ottawa, Canada., Ghani M; CHEO, Ottawa, Canada., Bronicki L; CHEO, Ottawa, Canada.; University of Ottawa, Ottawa, Canada., Jarinova O; CHEO, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jan; Vol. 8 (1), pp. e951. Date of Electronic Publication: 2019 Sep 30.

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