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Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

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Title: Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.
Authors: Chapman KA; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington DC, USA., Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern, Chicago, IL, USA., Yahiku ZA; Department of Neuroscience, University of Arizona, Tucson AZ, USA., Khan S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern, Chicago, IL, USA., Kodiparthi SV; AIQure LLC, El Paso, TX, USA., Kellaris G; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., White HG; Department of Neuroscience, University of Arizona, Tucson AZ, USA., Powell AT; Department of Neuroscience, University of Arizona, Tucson AZ, USA., Correia SP; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Stödberg T; Department of Women's and Children`s Health, Karolinska Institute, Stockholm, Sweden; and Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden., Sofokleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Fryssira H; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Tsoutsou E; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Accogli A; Division of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University, Montreal, QC, Canada., Sciruicchio V; Children Epilepsy and EEG Center, Bari, Italy., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University. College London, London, WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences, University of ĽAquila, 67100, ĽAquila, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Giannina Gaslini Institute, Genoa, Italy., Muss C; Nemours Children's Hospital, Wilmington, DE, USA., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris France., Heron D; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris France., Berger SI; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington DC, USA., Pond KW; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine - Tucson, AZ, USA., Sirimulla S; AIQure LLC, El Paso, TX, USA.; Expert Systems Inc., San Diego, CA, USA., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern, Chicago, IL, USA., Bhattacharya MR; Department of Neuroscience, University of Arizona, Tucson AZ, USA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Aug 22. Date of Electronic Publication: 2025 Aug 22.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.
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  Data: <searchLink fieldCode="AU" term="%22Chapman+KA%22">Chapman KA</searchLink>; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington DC, USA.<br /><searchLink fieldCode="AU" term="%22Ullah+F%22">Ullah F</searchLink>; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Yahiku+ZA%22">Yahiku ZA</searchLink>; Department of Neuroscience, University of Arizona, Tucson AZ, USA.<br /><searchLink fieldCode="AU" term="%22Khan+S%22">Khan S</searchLink>; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Kodiparthi+SV%22">Kodiparthi SV</searchLink>; AIQure LLC, El Paso, TX, USA.<br /><searchLink fieldCode="AU" term="%22Kellaris+G%22">Kellaris G</searchLink>; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22White+HG%22">White HG</searchLink>; Department of Neuroscience, University of Arizona, Tucson AZ, USA.<br /><searchLink fieldCode="AU" term="%22Powell+AT%22">Powell AT</searchLink>; Department of Neuroscience, University of Arizona, Tucson AZ, USA.<br /><searchLink fieldCode="AU" term="%22Correia+SP%22">Correia SP</searchLink>; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Stödberg+T%22">Stödberg T</searchLink>; Department of Women's and Children`s Health, Karolinska Institute, Stockholm, Sweden; and Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Sofokleous+C%22">Sofokleous C</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Marinakis+NM%22">Marinakis NM</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Fryssira+H%22">Fryssira H</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tsoutsou+E%22">Tsoutsou E</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Traeger-Synodinos+J%22">Traeger-Synodinos J</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Accogli+A%22">Accogli A</searchLink>; Division of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Sciruicchio+V%22">Sciruicchio V</searchLink>; Children Epilepsy and EEG Center, Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University. College London, London, WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences, University of ĽAquila, 67100, ĽAquila, Italy.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Giannina Gaslini Institute, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Muss+C%22">Muss C</searchLink>; Nemours Children's Hospital, Wilmington, DE, USA.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris France.<br /><searchLink fieldCode="AU" term="%22Heron+D%22">Heron D</searchLink>; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris France.<br /><searchLink fieldCode="AU" term="%22Berger+SI%22">Berger SI</searchLink>; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington DC, USA.<br /><searchLink fieldCode="AU" term="%22Pond+KW%22">Pond KW</searchLink>; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine - Tucson, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Sirimulla+S%22">Sirimulla S</searchLink>; AIQure LLC, El Paso, TX, USA.; Expert Systems Inc., San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Davis+EE%22">Davis EE</searchLink>; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Bhattacharya+MR%22">Bhattacharya MR</searchLink>; Department of Neuroscience, University of Arizona, Tucson AZ, USA.
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