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Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.

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Title: Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Authors: Marinakis NM; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. nikomari@med.uoa.gr.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. nikomari@med.uoa.gr., Tilemis FN; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Veltra D; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Svingou M; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kekou K; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kosma K; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kampouraki A; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kontse C; Division of Endocrinology, Diabetes and Metabolism, St. Sophia's Children's Hospital, ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Fylaktou I; Division of Endocrinology, Diabetes and Metabolism, St. Sophia's Children's Hospital, ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Sertedaki A; Division of Endocrinology, Diabetes and Metabolism, St. Sophia's Children's Hospital, ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Kanaka-Gantenbein C; Division of Endocrinology, Diabetes and Metabolism, St. Sophia's Children's Hospital, ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Makrythanasis P; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. pmakryth@med.uoa.gr.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece. pmakryth@med.uoa.gr.; Department of Genetic Medicine and Development, Medical School, University of Geneva, Geneva, Switzerland. pmakryth@med.uoa.gr.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Jan; Vol. 33 (1), pp. 65-71. Date of Electronic Publication: 2024 Nov 02.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Marinakis+NM%22">Marinakis NM</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. nikomari@med.uoa.gr.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. nikomari@med.uoa.gr.<br /><searchLink fieldCode="AU" term="%22Tilemis+FN%22">Tilemis FN</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Veltra+D%22">Veltra D</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Svingou+M%22">Svingou M</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Sofocleous+C%22">Sofocleous C</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kekou+K%22">Kekou K</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kosma+K%22">Kosma K</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kampouraki+A%22">Kampouraki A</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kontse+C%22">Kontse C</searchLink>; Division of Endocrinology, Diabetes and Metabolism, St. Sophia's Children's Hospital, ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Fylaktou+I%22">Fylaktou I</searchLink>; Division of Endocrinology, Diabetes and Metabolism, St. Sophia's Children's Hospital, ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Sertedaki+A%22">Sertedaki A</searchLink>; Division of Endocrinology, Diabetes and Metabolism, St. Sophia's Children's Hospital, ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kanaka-Gantenbein+C%22">Kanaka-Gantenbein C</searchLink>; Division of Endocrinology, Diabetes and Metabolism, St. Sophia's Children's Hospital, ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Traeger-Synodinos+J%22">Traeger-Synodinos J</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Makrythanasis+P%22">Makrythanasis P</searchLink>; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. pmakryth@med.uoa.gr.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece. pmakryth@med.uoa.gr.; Department of Genetic Medicine and Development, Medical School, University of Geneva, Geneva, Switzerland. pmakryth@med.uoa.gr.
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