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. |
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| 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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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-023-02522-8 |
