A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

Autor: Marafi D; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Kozar N; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bradley S; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK., Yokochi K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi 441-8570, Japan; Department of Pediatrics, Seirei Mikatahara General Hospital, Shizuoka 433-8558, Japan., Al Mutairi F; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O. Box 22490, Riyadh 11426, Kingdom of Saudi Arabia; King Abdullah International Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia., Saadi NW; College of Medicine, University of Baghdad, Baghdad 10001, Iraq; Children Welfare Teaching Hospital, Medical City Complex, Baghdad 10001, Iraq., Whalen S; UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, APHP, Sorbonne Université, Hôpital Trousseau, 75005 Paris, France., Brunet T; Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Choukair D; Division of Pediatric Endocrinology, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France., Nava C; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan., Arai H; Department of Pediatric Neurology, Bobath Memorial Hospital, Osaka 536-0023, Japan., Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan., Faqeih EA; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia., AlAsmari AM; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia., Saleh MM; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia., Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Schmitz CT; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Wagstaff LJ; Centre for Regenerative Medicine, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh, UK., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu., Meijer D; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK. Electronic address: dies.meijer@ed.ac.uk., Wagner M; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, Munich, Germany.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Sep 01; Vol. 109 (9), pp. 1713-1723. Date of Electronic Publication: 2022 Aug 09.

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Correction to: Can methods of artificial intelligence aid in optimizing patient selection in patients undergoing intrauterine inseminations?

Autor: Kozar N; Department of Reproductive Medicine and Gynaecological Endocrinology, Clinic for Gynaecology and Perinatology, University Medical Centre Maribor, Ljubljanska 5, 2000, Maribor, Slovenia. nejc@kozar.me.; Faculty of Medicine, University of Maribor, Taborska ulica 8, 2000, Maribor, Slovenia. nejc@kozar.me., Kovač V; Department of Reproductive Medicine and Gynaecological Endocrinology, Clinic for Gynaecology and Perinatology, University Medical Centre Maribor, Ljubljanska 5, 2000, Maribor, Slovenia.; Faculty of Medicine, University of Maribor, Taborska ulica 8, 2000, Maribor, Slovenia., Reljič M; Department of Reproductive Medicine and Gynaecological Endocrinology, Clinic for Gynaecology and Perinatology, University Medical Centre Maribor, Ljubljanska 5, 2000, Maribor, Slovenia.; Faculty of Medicine, University of Maribor, Taborska ulica 8, 2000, Maribor, Slovenia.

Publikováno v: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2021 Sep; Vol. 38 (9), pp. 2503.

Identification of Novel Diagnostic Biomarkers in Breast Cancer Using Targeted Metabolomic Profiling.

Autor: Kozar N; Division of Gynaecology and Perinatology, University Medical Centre Maribor, Maribor, Slovenia; Faculty of Medicine, University of Maribor, Maribor, Slovenia. Electronic address: nejc@kozar.me., Kruusmaa K; Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia; Universal Diagnostics, S.L. Centre of Research Technology and Innovation, University of Seville, Seville, Spain., Bitenc M; Universal Diagnostics, S.L. Centre of Research Technology and Innovation, University of Seville, Seville, Spain., Argamasilla R; Universal Diagnostics, S.L. Centre of Research Technology and Innovation, University of Seville, Seville, Spain., Adsuar A; Universal Diagnostics, S.L. Centre of Research Technology and Innovation, University of Seville, Seville, Spain., Takač I; Division of Gynaecology and Perinatology, University Medical Centre Maribor, Maribor, Slovenia; Faculty of Medicine, University of Maribor, Maribor, Slovenia., Arko D; Division of Gynaecology and Perinatology, University Medical Centre Maribor, Maribor, Slovenia; Faculty of Medicine, University of Maribor, Maribor, Slovenia.

Publikováno v: Clinical breast cancer [Clin Breast Cancer] 2021 Jun; Vol. 21 (3), pp. e204-e211. Date of Electronic Publication: 2020 Nov 11.

Identification of novel diagnostic biomarkers in endometrial cancer using targeted metabolomic profiling.

Autor: Kozar N; Division of Gynaecology and Perinatology, University Medical Centre Maribor, Maribor, Slovenia; Faculty of Medicine, University of Maribor, Maribor, Slovenia. Electronic address: nejc@kozar.me., Kruusmaa K; Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia; Universal Diagnostics, S.L. Centre of Research Technology and Innovation, University of Seville, Seville, Spain., Dovnik A; Division of Gynaecology and Perinatology, University Medical Centre Maribor, Maribor, Slovenia; Faculty of Medicine, University of Maribor, Maribor, Slovenia., Bitenc M; Universal Diagnostics, S.L. Centre of Research Technology and Innovation, University of Seville, Seville, Spain., Argamasilla R; Universal Diagnostics, S.L. Centre of Research Technology and Innovation, University of Seville, Seville, Spain., Adsuar A; Universal Diagnostics, S.L. Centre of Research Technology and Innovation, University of Seville, Seville, Spain., Goswami N; Physiology Division, Otto Loewi Research Center for Vascular Biology, Immunology and Inflammation, Medical University of Graz, Graz, Austria., Takač I; Division of Gynaecology and Perinatology, University Medical Centre Maribor, Maribor, Slovenia; Faculty of Medicine, University of Maribor, Maribor, Slovenia., Arko D; Division of Gynaecology and Perinatology, University Medical Centre Maribor, Maribor, Slovenia; Faculty of Medicine, University of Maribor, Maribor, Slovenia.

Publikováno v: Advances in medical sciences [Adv Med Sci] 2021 Mar; Vol. 66 (1), pp. 46-51. Date of Electronic Publication: 2020 Dec 24.