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De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

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Title: De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.
Authors: Stamou M; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA. Electronic address: mstamou@mgh.harvard.edu., Tompkins M; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Bow H; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Kearney J; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Akram M; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Brand H; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA., Zhao X; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA., Zaheri S; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA., Georgopoulos NA; Division of Endocrinology, Department of Medicine, University of Patras Medical School, Patras, Greece., Chorin O; The Danek Gertner Institute of Human Genetics and the Institute of Rare Diseases, The Lily and Edmond Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Khavkin Y; The Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel., Kedar T; Pediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Lippincott MF; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA., Plummer L; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA., Talkowski M; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA., Shen Y; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Wu DK; National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD., Balasubramanian R; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA., Wray S; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Seminara SB; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101623. Date of Electronic Publication: 2025 Oct 24.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.
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  Data: <searchLink fieldCode="AU" term="%22Stamou+M%22">Stamou M</searchLink>; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA. Electronic address: mstamou@mgh.harvard.edu.<br /><searchLink fieldCode="AU" term="%22Tompkins+M%22">Tompkins M</searchLink>; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Bow+H%22">Bow H</searchLink>; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Kearney+J%22">Kearney J</searchLink>; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Akram+M%22">Akram M</searchLink>; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Brand+H%22">Brand H</searchLink>; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Zhao+X%22">Zhao X</searchLink>; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Zaheri+S%22">Zaheri S</searchLink>; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Georgopoulos+NA%22">Georgopoulos NA</searchLink>; Division of Endocrinology, Department of Medicine, University of Patras Medical School, Patras, Greece.<br /><searchLink fieldCode="AU" term="%22Chorin+O%22">Chorin O</searchLink>; The Danek Gertner Institute of Human Genetics and the Institute of Rare Diseases, The Lily and Edmond Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Khavkin+Y%22">Khavkin Y</searchLink>; The Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Kedar+T%22">Kedar T</searchLink>; Pediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Lippincott+MF%22">Lippincott MF</searchLink>; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Plummer+L%22">Plummer L</searchLink>; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Talkowski+M%22">Talkowski M</searchLink>; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Shen+Y%22">Shen Y</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Wu+DK%22">Wu DK</searchLink>; National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Balasubramanian+R%22">Balasubramanian R</searchLink>; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Wray+S%22">Wray S</searchLink>; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Seminara+SB%22">Seminara SB</searchLink>; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101623. <i>Date of Electronic Publication: </i>2025 Oct 24.
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        Value: 10.1016/j.gim.2025.101623
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