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 University, 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 University, 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 Institutet, Stockholm, Sweden; Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden., Sofocleous 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; Laboratory of Genetics, Faculty of Medicine, Democritus University of Thrace, Alexandroupolis, 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 L'Aquila, 67100 L'Aquila, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; IRCCS Istituto Giannina Gaslini, full member of ERN-EpiCARE, Genova, 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 University, Chicago, IL, USA. Electronic address: eridavis@luriechildrens.org., Bhattacharya MRC; Department of Neuroscience, University of Arizona, Tucson, AZ, USA. Electronic address: marthab1@arizona.edu.
Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2381-2401. Date of Electronic Publication: 2025 Aug 29.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2025.08.004