Prenatal assessment of brain malformations on neuroimaging: an expert panel review.

Autor: Pogledic I; Division of Neuroradiology and Musculoskeletal Radiology, Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, 1090 Vienna, Austria., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N3JH, UK.; UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Lerman-Sagie T; Multidisciplinary foetal Neurology Center, Obstetrics & Gynecology Ultrasound Unit, Obstetrics and Gynecology Department, Wolfson Medical Center, Holon 5822012, Israel.; Faculty of Medicine, Tel Aviv University, 5822012 Tel Aviv, Israel., Jakab A; Center for MR Research, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland., Hadi E; Department of Obstetrics and Gynecology, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medicine, Tel Aviv University, 6436624 Tel Aviv, Israel., Jansen AC; Pediatric Neurology Unit, Universitair Ziekenhuis Antwerpen, 2650 EdegemAntwerp, Belgium., Bahi-Buisson N; Pediatric Neurology, Necker Enfants Malades, University Hospital Imagine Institute, 75015 Paris, France., Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3508 AB Utrecht, The Netherlands., Mitter C; Division of Neuroradiology and Musculoskeletal Radiology, Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, 1090 Vienna, Austria., Capo I; Department of Histology and Embryology, Faculty of Medicine, University of Novi Sad, Novi Sad 21000, Serbia., Whitehead MT; Division of Neuroradiology, Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania Perelman School of Medicine of Philadelphia, Philadelphia, PA 19105, USA., Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Mancini G; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015GD, The Netherlands., Huisman TAGM; Edward B. Singleton Department of Radiology, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA., Righini A; Pediatric Radiology and Neuroradiology Department, Children's Hospital V. Buzzi, 20154 Milan, Italy., Dobyns B; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA., Barkovich JA; Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA 94143, USA., Milosevic NJ; Croatian Institute for Brain Research and Department of Biology, University of Zagreb, School of Medicine, 10000 Zagreb, Croatia., Kasprian G; Division of Neuroradiology and Musculoskeletal Radiology, Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, 1090 Vienna, Austria., Lequin M; Edward B. Singleton Department of Radiology, Texas Children's Hospital and Baylor College of Medicine, Austin, TX 78717USA.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Dec 03; Vol. 147 (12), pp. 3982-4002.

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome

Autor: Abdin, D., Rump, A., Tzschach, A., Sarnow, K., Schröck, E., Hackmann, K., Di Donato, N.

Publikováno v: In European Journal of Medical Genetics December 2019 62(12)

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Autor: Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Danyel M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Grundmann K; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Engels H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Peters S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Moosa S; Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa., Averdunk L; Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany., Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Sczakiel HL; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Schwartzmann S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Mensah MA; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Pantel JT; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Holtgrewe M; Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Bösch A; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Weiß C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Weinhold N; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Suter AA; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Stoltenburg C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Neugebauer J; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kallinich T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kaindl AM; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Holzhauer S; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Bührer C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Bufler P; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Ott CE; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Schülke M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Nguyen HHP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Hoffjan S; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Grasemann C; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Rothoeft T; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Brinkmann F; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Matar N; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Sivalingam S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Perne C; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Mücke M; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Grigull L; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Klockgether T; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Spier I; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Heimbach A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Bender T; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Brand F; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Stieber C; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Morawiec AM; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Karakostas P; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Schäfer VS; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Bernsen S; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Weydt P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Castro-Gomez S; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Aziz A; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Grobe-Einsler M; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kimmich O; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Önder D; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Lesmann H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Tacik P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Basin MA; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Incardona P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Lee-Kirsch MA; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Berner R; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Schuetz C; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Körholz J; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Kretschmer T; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Di Donato N; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany., Schröck E; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany., Heinen A; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Reuner U; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany., Hanßke AM; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Manka E; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Munteanu M; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Cordula K; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Hirtz R; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Schlapakow E; Department of Neurology, University Hospital Halle, Halle, Germany., Schlein C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Weiler-Normann C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Ullrich K; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Schramm C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Rudolph C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Rillig F; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Groffmann M; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Muntau A; Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Tibelius A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Zawada M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Okun PM; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kotzaeridou U; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Hoffmann GF; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Choukair D; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Bettendorf M; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Ripke A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany., Pauly M; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Münchau A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Bäumer T; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Herzog R; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany., Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Strom T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Kovacs R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Mayerhanser K; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Oexle K; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Mirza-Schreiber N; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Schatz U; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Krenn M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Neurology, Medical University of Vienna, Wien, Austria., Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany., Weigand H; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Schröder S; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Rohlfs M; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Vill K; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Hauck F; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Borggraefe I; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Müller-Felber W; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kehrer M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Demidov G; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beck-Wödl S; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Graessner H; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Sturm M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Zeltner L; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Schöls LJ; Department of Neurology, University of Tübingen, Tübingen, Germany., Magg J; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Bevot A; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Kehrer C; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Kaiser N; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Grüters-Kieslich A; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Klein C; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Mundlos S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Nöthen M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Krude H; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de., Haack T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.

Publikováno v: Nature genetics [Nat Genet] 2024 Aug; Vol. 56 (8), pp. 1644-1653. Date of Electronic Publication: 2024 Jul 22.

Current genetic diagnostics in inborn errors of immunity.

Autor: von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Klefenz I; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Steinemann D; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Di Donato N; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Baumann U; Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany., Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Klemann C; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Department of Pediatric Immunology, Rheumatology and Infectiology, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2024 Apr 10; Vol. 12, pp. 1279112. Date of Electronic Publication: 2024 Apr 10 (Print Publication: 2024).

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Autor: Guo L; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an 710061, China; National Local Joint Engineering Research Center for Precision Surgery & Regenerative Medicine, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China; Center of Medical Genetics, Northwest Women's and Children's Hospital, the Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710003, China. Electronic address: longguo601@gmail.com., Salian S; Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada., Xue JY; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an 710061, China; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Rath N; Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, D-81377 Munich, Germany., Rousseau J; Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada., Kim H; Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada., Ehresmann S; Molecular Biology Program, Université de Montréal, Montréal, QC H3T 1J4, Canada., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Tygerberg 7505, South Africa., Nakagawa N; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan; Department of Pediatrics, North Medical Center, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan., Kuroda H; Department of Pediatrics, Kyoto City Hospital, Kyoto 604-8845, Japan., Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Wang J; Department of Ultrasound, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China., Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Zhang YM; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an 710082, China., Wei ZJ; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Hüning I; Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany., Brunet T; Institute of Human Genetics, School of Medicine, Technical University Munich, 80333 Munich, Germany; Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig Maximilian University of Munich, 80539 Munich, Germany., Ohashi H; Division of Medical Genetics, Saitama Children's Hospital, Saitama 330-8777, Japan., Thomas MF; Division of Gastroenterology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Bupp C; Spectrum Health, Grand Rapids, MI 49503, USA., Miyake N; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo 162-8655, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Program in Genetics and Genome Biology, SickKids Research Institute, and Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada., Costain G; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A4, Canada., Hahn G; Institute for Radiological Diagnostics, Universitätsklinikum Carl Gustav Carus Dresden, Technische Universität, 01307 Dresden, Germany., Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, 01069 Dresden, Germany., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany; DZHK (German Center for Cardiovascular Research), partner site Göttingen, 37075 Göttingen, Germany., Yamada T; Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto 606-8501, Japan., Nishimura G; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Ansel KM; Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA 94143, USA., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany; DZHK (German Center for Cardiovascular Research), partner site Göttingen, 37075 Göttingen, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, 37075 Göttingen, Germany., Hrabě de Angelis M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, 85354 Freising, Germany; German Center for Diabetes Research (DZD), 85764 Neuherberg, Germany., Mégarbané A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, 1102-2801, Lebanon and Institut Jerome Lejeune, 75015 Paris, France., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Heissmeyer V; Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, D-81377 Munich, Germany; Institute for Immunology, Biomedical Center, Faculty of Medicine, Ludwig-Maximilians-Universität in Munich, 82152 Planegg-Martinsried, Germany., Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Campeau PM; Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Jul 06; Vol. 110 (7), pp. 1068-1085. Date of Electronic Publication: 2023 Jun 22.