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Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.

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Title: Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
Authors: Brakta S; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia. sbrakta@augusta.edu., Hawkins ZA; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia., Sahajpal N; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia.; Department of Genetics, Greenwood Genetics Center, Greenwood, SC, USA., Seman N; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia., Kira D; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia., Chorich LP; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Xu H; Department of Population Health Sciences, Medical College of Georgia, Augusta University, Augusta, Georgia., Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Kolhe R; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia., Layman LC; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia. lalayman@augusta.edu.; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia. lalayman@augusta.edu.; Department of Physiology, Medical College of Georgia, Augusta University, Augusta, Georgia. lalayman@augusta.edu.
Source: Human genetics [Hum Genet] 2023 Apr; Vol. 142 (4), pp. 483-494. Date of Electronic Publication: 2023 Feb 17.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
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  Data: <searchLink fieldCode="AU" term="%22Brakta+S%22">Brakta S</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia. sbrakta@augusta.edu.<br /><searchLink fieldCode="AU" term="%22Hawkins+ZA%22">Hawkins ZA</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.<br /><searchLink fieldCode="AU" term="%22Sahajpal+N%22">Sahajpal N</searchLink>; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia.; Department of Genetics, Greenwood Genetics Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Seman+N%22">Seman N</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.<br /><searchLink fieldCode="AU" term="%22Kira+D%22">Kira D</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.<br /><searchLink fieldCode="AU" term="%22Chorich+LP%22">Chorich LP</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.<br /><searchLink fieldCode="AU" term="%22Kim+HG%22">Kim HG</searchLink>; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Xu+H%22">Xu H</searchLink>; Department of Population Health Sciences, Medical College of Georgia, Augusta University, Augusta, Georgia.<br /><searchLink fieldCode="AU" term="%22Phillips+JA+3rd%22">Phillips JA 3rd</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Kolhe+R%22">Kolhe R</searchLink>; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia.<br /><searchLink fieldCode="AU" term="%22Layman+LC%22">Layman LC</searchLink>; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia. lalayman@augusta.edu.; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia. lalayman@augusta.edu.; Department of Physiology, Medical College of Georgia, Augusta University, Augusta, Georgia. lalayman@augusta.edu.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2023 Apr; Vol. 142 (4), pp. 483-494. <i>Date of Electronic Publication: </i>2023 Feb 17.
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              Text: 2023 Apr
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