Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.

Autor: Forbes EJ; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia., Morison LD; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Lelik F; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Howell T; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Debono S; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Goel H; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, The University of Newcastle, Newcastle, New South Wales, Australia.; Hunter Genetics, Waratah, New South Wales, Australia., Burger P; Department of Neurogenetics and Translational Medicine, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France., Mandel JL; Department of Neurogenetics and Translational Medicine, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; University of Strasbourg Institute for Advanced Studies (USIAS), Strasbourg, France., Geneviève D; Génétique Clinique, Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, Montpellier, France., Amor DJ; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Morgan AT; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville, Victoria, Australia.

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2024 Sep; Vol. 195 (6), pp. e32971. Date of Electronic Publication: 2024 Feb 29.

Liesegang Rings in a Patient With Pulmonary Tuberculosis: The First Report.

Autor: Pujani M; Department of Pathology, ESIC Medical College & Hospital Faridabad, HR, India., Jain M; Department of Pathology, ESIC Medical College & Hospital Faridabad, HR, India., Pujani M; Director Lab Services, Metro Heart Institute and Superspecialty Hospital, Faridabad, HR, India., Rajpoot J; Department of Pathology, ESIC Medical College & Hospital Faridabad, HR, India., Yadav A; Department of Pathology, Uttar Pradesh University of Medical Sciences, Saifai, UP, India., Goel H; Department of Pathology, ESIC Medical College & Hospital Faridabad, HR, India.

Publikováno v: International journal of surgical pathology [Int J Surg Pathol] 2024 Dec; Vol. 32 (8), pp. 1544-1546. Date of Electronic Publication: 2024 Feb 20.

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

Autor: Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark., Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy., Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA., De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy., Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia., Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA., Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France., Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA., Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium., Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 574-584. Date of Electronic Publication: 2024 Jul 11.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Autor: Lesmann H; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, NRW, Germany., Marchi E; New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, New York, USA., Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Pantel JT; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Hagen MT; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Mazlan RAB; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Tae SK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Kamphans T; GeneTalk GmbH, Bonn, NRW, Germany., Meiswinkel W; GeneTalk GmbH, Bonn, NRW, Germany., Li JM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Javanmardi B; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Uwineza A; College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Velmans C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Jacob M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Peron A; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Italy., Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, UK.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, UK., Nunes BC; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Vilella T; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Pinheiro IF; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Kim CA; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Weiland H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Kaptain S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Chwiałkowska K; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; IMAGENE.ME SA, Bialystok, Poland., Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland.; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland., Saad R; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London UK., Wiethoff S; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, NRW, Germany., Goel H; School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia., Tang C; Kabuki Syndrome Foundation, Northbrook, IL, USA., Hau A; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Panek P; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Braun F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, NRW, Germany., Gomy I; Department of Genetics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Sao Paulo, Brazil., Averdunk L; Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany., Ekure E; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria., Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana., Graziano C; Medical Genetics Unit, Ausl Romagna, Cesena, Italy., Gaboon N; Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Fiesco-Roa M; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, México City, Mexico., Spinelli AM; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Wilpert NM; NeuroCure Cluster of Excellence; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-13353 Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, D-10117 Berlin, German., Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Güzel N; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bitar R; Pediatric Gastroenterology Department, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Khalifa University, Abu Dhabi, United Arab Emirates., Tzschach A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Contreras-Capetillo SN; Universidad Autonoma de Yucatan (University Autonomus of Yucatan), Merida, Yucatan, Mexico., Oberlack A; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Samango-Sprouse C; Department of Pediatrics, George Washington University, 2121 I St. NW, Washington D.C. 2005.; Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th Street, AHC2 Miami, Florida 22199.; Department of Research, The Focus Foundation, 820 W. Central Ave. #190, Davidsonville, MD 21035., Sadeghin T; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Olaya M; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Borovikov A; Research Centre for Medical Genetics (RCMG), Moscow, Russia., Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Heuft L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Herrmann V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Kumar S; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Komlosi K; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed K; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Martinez-Monseny AF; Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain., Höller M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Toutouna L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lasa-Aranzasti A; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain., Sayer JA; Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.; Renal Services, The Newcastle Upon Tyne NHS Hospitals Foundation Trust, Freeman Road, Newcastle Upon Tyne, UK., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Danyel M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Sczakiel H; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Schwartzmann S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Boschann F; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Zhao M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Adam R; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Einicke L; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Horn D; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Chew KS; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Kam CC; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Karakoyun M; Ege University, Faculty of Medicine, Department of Pediatric Gastroenterology Hepatology and Nutrition, Izmir, Turkey., Pode-Shakked B; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; The faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel., Rock R; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center.; National Newborn Screening Program, Public Health Services, Ministry of Health Tel-Hashomer, Israel., Carrion T; Rare diseases Unit, Pediatric Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain., Chorin O; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Zarate YA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA., Conti MM; Project Director AI for Health at Foundation 29, Foundation 29, Madrid, Spain., Karakaya M; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Tung ML; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Chandra B; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lumaka A; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo., Wasif N; Institute of Human Genetics, University of Ulm, Ulm, Baden-Württemberg, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing 100191, China., Niehues T; Department of Pediatrics, Helios Klinik Krefeld, Krefeld 47805, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Roth RR; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Hu P; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Waikel RL; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Ledgister Hanchard SE; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Elmakkawy G; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Krüger E; Insitute for Medical Biochemistry and Molecular Biology, University of Greifswald, Greifswald, Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Arlt A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dupuis L; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Mendoza-Londono R; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Weis D; Institue for Medical Genetics, Kepler University Hospital, Linz, Austria., Chung BH; Hong Kong Genome Institute, Hong Kong, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Mak CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Türkiye., Elcioglu N; Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Türkiye., Aykut A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Türkiye., Şimşek-Kiper PÖ; Hacettepe University Faculty of Medicine, Department of Pediatric Genetics, Ankara, Türkiye., Bögershausen N; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Wollnik B; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany., Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, University of Oslo, Oslo, Norway.; Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Netzer C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Devriendt K; Center for Human Genetics, KU Leuven, Leuven, Belgium., Gripp KW; Division of Medical Genetics, A.I. du Pont Hospital for Children/Nemours, USA, Wilmington, Delaware, USA., Mücke M; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Verloes A; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Nellåker C; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, UK., Solomon BD; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; Biology PhD Program, The Graduate Center, The City University of New York, New York, United States of America., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 08. Date of Electronic Publication: 2024 Oct 08.

MicroRNA and Rare Human Diseases.

Autor: Goel H; Hunter Genetics, Waratah, NSW 2298, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, NSW 2308, Australia., Goel A; Billy Blue College of Design, Torrens University Australia, Adelaide, SA 5000, Australia.

Publikováno v: Genes [Genes (Basel)] 2024 Sep 25; Vol. 15 (10). Date of Electronic Publication: 2024 Sep 25.