The EUROGEM map of human chromosome 13

Autor: Rf, Kooy, Wijngaard A, Verlind E, Gilles Vergnaud, Scheffer H, Ch, Buys

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 1993, 2 (3), pp.228-9
Scopus-Elsevier
Europe PubMed Central

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b321b15c1a05b0ba7979c5bcdcbbe628

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

Autor: Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, University of Sfax, Sfax, Tunisia., Janssens K; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium., Reyniers E; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium., Meuwissen MEC; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium., Ceulemans B; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Hill JB; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Liu L; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, TX, USA., Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Huybrechs A; Department of Pediatrics, Heilig Hart Ziekenhuis, Lier, Belgium., Sulem T; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Fridriksdottir R; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Bai Y; GeneDx, Gaithersburg, MD, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1378-1386. Date of Electronic Publication: 2024 Jul 04.

Correction to: ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van Der Aa syndrome autopsy case.

Autor: D'Incal C; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Antwerp, Belgium.; Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Epigenetic Signaling lab (PPES), Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Antwerp, Belgium., Dijck AV; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Antwerp, Belgium.; Family Medicine and Population Health (FAMPOP), Department of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium., Ibrahim J; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Antwerp, Belgium., Man K; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Antwerp, Belgium.; Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Epigenetic Signaling lab (PPES), Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Antwerp, Belgium., Bastini L; Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Epigenetic Signaling lab (PPES), Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Antwerp, Belgium., Konings A; Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Epigenetic Signaling lab (PPES), Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Antwerp, Belgium., Elinck E; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Antwerp, Belgium., Theys C; Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Epigenetic Signaling lab (PPES), Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Antwerp, Belgium., Gozes I; The Elton Laboratory for Molecular Neuroendocrinology, Department of Human Molecular Genetics and Biochemistry, Faculty of Medical & Health Sciences, Adams Super Center for Brain Studies and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Marusic Z; Clinical Department of Pathology and Cytology, University Hospital Centre Zagreb, Zagreb, Croatia., Anicic M; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, School of Medicine, University Hospital Centre Zagreb, Zagreb, Croatia., Vukovic J; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, School of Medicine, University Hospital Centre Zagreb, Zagreb, Croatia., Aa NV; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Antwerp, Belgium., Mateiu L; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Antwerp, Belgium., Vanden Berghe W; Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Epigenetic Signaling lab (PPES), Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Antwerp, Belgium. wim.vandenberghe@uantwerpen.be., Kooy RF; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Antwerp, Belgium. frank.kooy@uantwerpen.be.

Publikováno v: Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Oct 24; Vol. 12 (1), pp. 168. Date of Electronic Publication: 2024 Oct 24.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Autor: Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA., Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Ziats C; Shodair Children's Hospital, Helena, MT, USA., Have J; Shodair Children's Hospital, Helena, MT, USA., Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA., Steel D; UCL Great Ormond Street Institute of Child Health, London, UK., Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK., Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK., Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA., Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA., Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada., Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA., Douglas J; Harvard Medical School, Boston, MA, USA., Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA., Longo N; University of Utah, Salt Lake City, UT, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany., Balci T; University of Western Ontario, London, ON, Canada., Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands., Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands., Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands., Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands., Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Synodinos JT; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece., Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France., Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France., Au B; University of Calgary, Calgary, AB, Canada., Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia., Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia., Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium., Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA., Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium., Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium., Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA., Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA., Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA., McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA., James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA., Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA., Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA., Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France., Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Guyader GLE; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France., Kaplan J; Nemours Children's Health, Wilmington, DE, USA., Muss C; Nemours Children's Health, Wilmington, DE, USA., Carere DA; GeneDx, Gaithersburg, MD, USA., Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu., Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 1032.

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

Autor: Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Reeuwijk J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Schuurs-Hoeijmakers J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon BW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Willemsen M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Bert.deVries@radboudumc.nl.

Publikováno v: Nature medicine [Nat Med] 2024 Jul; Vol. 30 (7), pp. 1994-2003. Date of Electronic Publication: 2024 May 14.