A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Autor: Eisfeldt J; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, 171 65 Solna, Sweden., Ameur A; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Lenner F; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Ten Berk de Boer E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, 171 65 Solna, Sweden., Ek M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden., Wincent J; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden., Vaz R; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden., Ottosson J; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Jonson T; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 221 84 Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, 223 62 Lund, Sweden., Ivarsson S; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 221 84 Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, 223 62 Lund, Sweden., Thunström S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Topa A; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Stenberg S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Rohlin A; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden.; Department of Laboratory Medicine, Institute for Biomedicine, Sahlgrenska Academy, University of Gothenburg, 405 30 Gothenburg, Sweden., Sandestig A; Department of Clinical Genetics, Linköping University Hospital, 581 85 Linköping, Sweden., Nordling M; Department of Clinical Genetics, Linköping University Hospital, 581 85 Linköping, Sweden.; Division of Cell and Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, 581 83 Linköping, Sweden., Palmebäck P; Department of Clinical Genetics, Linköping University Hospital, 581 85 Linköping, Sweden., Burstedt M; Department of Medical Bioscience, Medical and Clinical Genetics, Umeå University, 901 87 Umeå, Sweden., Nordin F; Department of Pharmacology and Clinical Neurosciences, Umeå University, 901 87 Umeå, Sweden., Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Sobol M; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Baliakas P; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Bondeson ML; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Höijer I; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Saether KB; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, 171 65 Solna, Sweden., Lovmar L; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 90 Gothenburg, Sweden., Ehrencrona H; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 221 84 Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, 223 62 Lund, Sweden., Melin M; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Feuk L; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden; anna.lindstrand@ki.se lars.feuk@igp.uu.se.; Science for Life Laboratory, Uppsala University, 752 37 Uppsala, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden; anna.lindstrand@ki.se lars.feuk@igp.uu.se.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden.

Publikováno v: Genome research [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 1774-1784. Date of Electronic Publication: 2024 Nov 20.

Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial.

Autor: Kvanta A; Department of Clinical Neuroscience, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden. anders.kvanta@ki.se., Rangaswamy N; Novartis Institutes for Biomedical Research, Cambridge, MA, USA., Holopigian K; Novartis Institutes for Biomedical Research, East Hanover, NJ, USA., Watters C; Novartis Pharmaceuticals Corporation, Cambridge, MA, USA., Jennings N; Novartis Institutes for Biomedical Research, Cambridge, MA, USA., Liew MSH; Novartis Institutes for Biomedical Research, Cambridge, MA, USA., Bigelow C; Novartis Institutes for Biomedical Research, Cambridge, MA, USA., Grosskreutz C; Novartis Institutes for Biomedical Research, Cambridge, MA, USA., Burstedt M; Department of Clinical Sciences/Ophthalmology, University of Umeå, Umeå, Sweden., Venkataraman A; Department of Clinical Neuroscience, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden., Westman S; Department of Clinical Neuroscience, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden., Geirsdottir A; Department of Clinical Neuroscience, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden., Stasi K; Novartis Institutes for Biomedical Research, Cambridge, MA, USA., André H; Department of Clinical Neuroscience, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden.

Publikováno v: Nature communications [Nat Commun] 2024 Sep 10; Vol. 15 (1), pp. 7438. Date of Electronic Publication: 2024 Sep 10.

Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion.

Autor: Lundberg E; Pediatrics, Institute of Clinical Science, Umeå University, Umeå, Sweden., Burstedt M; Medical and Clinical Genetics, Institute of Medical Biosciences, Umeå University, Umeå, Sweden., Golovleva I; Medical and Clinical Genetics, Institute of Medical Biosciences, Umeå University, Umeå, Sweden.

Publikováno v: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Feb 12. Date of Electronic Publication: 2024 Feb 12.

Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP).

Autor: Green J; Memorial University of Newfoundland, St. John's, Canada., Tolley C; Adelphi Values, Bollington, UK., Bentley S; Adelphi Values, Bollington, UK. sarah.bentley@adelphivalues.com., Arbuckle R; Adelphi Values, Bollington, UK., Burstedt M; University of Umeå, Umeå, Sweden., Whelan J; Memorial University of Newfoundland, St. John's, Canada., Holopigian K; Novartis Institute of Biomedical Research, East Hanover, NJ, USA., Stasi K; Novartis Institute of Biomedical Research, Cambridge, MA, USA., Sloesen B; Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA., Spera C; Novartis Pharma AG, Basel, Switzerland., Deslandes JY; Novartis Pharma AG, Basel, Switzerland., Mullins A; Novartis Pharma AG, Basel, Switzerland.

Publikováno v: Advances in therapy [Adv Ther] 2020 Jun; Vol. 37 (6), pp. 2884-2901. Date of Electronic Publication: 2020 May 05.

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.

Autor: Gkourogianni A; Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; Center for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden., Andrade AC; Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; Center for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden., Jonsson BA; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden., Segerlund E; Department of Pediatrics, Sunderby Hospital, Sunderby, Sweden., Werner-Sperker A; Department of Pediatrics, Sunderby Hospital, Sunderby, Sweden., Horemuzova E; Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden., Dahlgren J; Göteborg Pediatric Growth Research Center, Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden., Burstedt M; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden., Nilsson O; Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; Center for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden.; School of Medical Sciences, Örebro University and University Hospital, Örebro, Sweden.

Publikováno v: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2020 Oct; Vol. 109 (10), pp. 2067-2074. Date of Electronic Publication: 2020 Mar 06.