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1.
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10 p, 1.8 MB |
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
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Tessadori, Federico (Hubrecht Institute-KNAW) ;
Duran, Karen (Utrecht University) ;
Knapp, Karen (University of Otago) ;
Fellner, Matthias (University of Otago) ;
Smithson, Sarah (University Hospitals Bristol and Weston NHS Foundation Trust) ;
Beleza Meireles, Ana (University Hospitals Bristol and Weston NHS Foundation Trust) ;
Elting, Mariet W. (Amsterdam UMC) ;
Waisfisz, Quinten (Amsterdam UMC) ;
O'Donnell-Luria, Anne (Manton Center for Orphan Disease Research) ;
Nowak, Catherine (Manton Center for Orphan Disease Research) ;
Douglas, Jessica (Manton Center for Orphan Disease Research) ;
Ronan, Anne (Clinical Genetics) ;
Brunet, Theresa (Helmholtz Zentrum München) ;
Kotzaeridou, Urania (Heidelberg University Hospital (Alemanya)) ;
Svihovec, Shayna (University of Colorado Anschutz Medical Campus) ;
Saenz, Margarita S. (University of Colorado Anschutz Medical Campus) ;
Thiffault, Isabelle (Children's Mercy Hospital) ;
Del Viso, Florencia (Children's Mercy Hospital) ;
Devine, Patrick (University of California) ;
Rego, Shannon (University of California) ;
Tenney, Jessica (University of California) ;
van Haeringen, Arie (Leiden University Medical Center) ;
Ruivenkamp, Claudia A.L. (Leiden University Medical Center) ;
Koene, Saskia (Leiden University Medical Center) ;
Robertson, Stephen P. (University of Otago) ;
Deshpande, Charulata (Guy's and St Thomas' NHS Foundation Trust) ;
Pfundt, Rolph (Radboud University Medical Centre) ;
Verbeek, Nienke (University Medical Centre Utrecht) ;
van de Kamp, Jiddeke M. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Weiss, Janneke M.M. (Radboud University Medical Centre) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Banne, Ehud (Kaplan Medical Center) ;
Pepler, Alexander (Praxis für Humangenetik Tübingen) ;
Bottani, Armand (Geneva University Hospitals) ;
Laurent, Sacha (Geneva University Hospitals) ;
Guipponi, Michel (Geneva University Hospitals) ;
Bijlsma, Emilia (Leiden University Medical Center) ;
Bruel, Ange-Line (Dijon Bourgogne University Hospital) ;
Sorlin, Arthur (Dijon Bourgogne University Hospital) ;
Willis, Mary (Naval Medical Center San Diego) ;
Powis, Zoe (Ambry Genetics) ;
Smol, Thomas (Institut de Génétique Médicale) ;
Vincent-Delorme, Catherine (CHU Lille) ;
Baralle, Diana (University of Southampton) ;
Colin, Estelle (CHU d'Angers) ;
Revencu, Nicole (Université Catholique de Louvain) ;
Calpena, Eduardo (University of Oxford) ;
Wilkie, Andrew O.M. (University of Oxford) ;
Chopra, Maya (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Cormier-Daire, Valerie (Université de Paris) ;
Keren, Boris (Pitié-Salpêtrière Hospital) ;
Afenjar, Alexandra (Sorbonne Université) ;
Niceta, Marcello (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Terracciano, Alessandra (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Specchio, Nicola (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Tartaglia, Marco (Ospedale Pediatrico Bambino Gesù) ;
Rio, Marlene (Paris Descartes-Sorbonne Paris Cité University) ;
Barcia, Giulia (Paris Descartes-Sorbonne Paris Cité University) ;
Rondeau, Sophie (Paris Descartes-Sorbonne Paris Cité University) ;
Colson, Cindy (CHU Lille) ;
Bakkers, Jeroen (University Medical Center Utrecht) ;
Mace, Peter D. (University of Otago) ;
Bicknell, Louise S. (University of Otago) ;
van Haaften, Gijs (University Medical Center Utrecht) ;
Universitat Autònoma de Barcelona
Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular processes such as DNA replication, DNA transcription, and DNA repair in all eukaryotes. [...]
2022 -  10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, Vol. 109 (february 2022) , p. 750-758
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2.
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10 p, 1.3 MB |
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
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Hochberg, Irit (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ;
Demain, Leigh A. M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Richer, Julie (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Thompson, Kyle (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
Urquhart, Jill E. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Rea, Alessandro (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Pagarkar, Waheeda (Royal National ENT and Eastman Dental Hospital, University College London Hospitals) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Schlüter, Agatha (Institut d'Investigació Biomèdica de Bellvitge) ;
Verdura, Edgard (Institut d'Investigació Biomèdica de Bellvitge) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Quijada-Fraile, Pilar (Hospital Universitario 12 de Octubre (Madrid)) ;
Amberger, Albert (Institute of Human Genetics, Medical University Innsbruck) ;
Deutschmann, Andrea J. (Institute of Human Genetics, Medical University Innsbruck) ;
Demetz, Sandra (Institute of Human Genetics, Medical University Innsbruck) ;
Gillespie, Meredith (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Belyantseva, Inna A. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
McMillan, Hugh J. (Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa) ;
Barzik, Melanie (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
Beaman, Glenda M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Motha, Reeya (The Royal London Hospital) ;
Ng, Kah Ying (Institute of Biotechnology, University of Helsinki) ;
O'Sullivan, James (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Williams, Simon G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Bhaskar, Sanjeev S. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Lawrence, Isabella R. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
Jenkinson, Emma M. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ;
Zambonin, Jessica L. (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Blumenfeld, Zeev (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ;
Yalonetsky, Sergey (Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa) ;
Oerum, Stephanie (Newcastle MX Structural Biology Laboratory, Newcastle University) ;
Rossmanith, Walter (Center for Anatomy and Cell Biology, Medical University of Vienna) ;
Yue, Wyatt W. (Newcastle MX Structural Biology Laboratory, Newcastle University) ;
Zschocke, Johannes (Institute of Human Genetics, Medical University Innsbruck) ;
Munro, Kevin J. (Manchester University NHS Foundation Trust) ;
Battersby, Brendan J. (Institute of Biotechnology, University of Helsinki) ;
Friedman, Thomas B. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
Taylor, Robert W. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
O'Keefe, Raymond T. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ;
Newman, William G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust)
Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. [...]
2021 - 10.1016/j.ajhg.2021.10.002
American Journal of Human Genetics, Vol. 108 (november 2021) , p. 2195-2204
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3.
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11 p, 1.2 MB |
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
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Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ;
Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ;
Allen, William (Fullerton Genetics Center, Asheville) ;
Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ;
Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ;
Barakat, Bushra A. Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ;
Barraza-García, Jimena (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ;
Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ;
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ;
Cruz-Rojo, Jaime (Hospital Universitario 12 de Octubre (Madrid)) ;
Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ;
Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ;
Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ;
Jobling, Rebekah (The Hospital for Sick Children) ;
Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ;
Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ;
Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ;
Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ;
Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ;
Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ;
Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ;
Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ;
Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ;
Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ;
Stevens, Paul (Cytogenetics Department, Viapath Analytics) ;
Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ;
Turner, Lesley (Memorial University of Newfoundland) ;
Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ;
Wilson, Carolyn (Fullerton Genetics Center) ;
Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ;
Zahavich, Laura (The Hospital for Sick Children) ;
Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ;
Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ;
Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ;
Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ;
Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ;
Heath, Karen E. (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ;
Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
GOSgene UCL Great Ormond Street Institute of Child Health
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231
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29 p, 2.6 MB |
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia
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Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Schuster, Beatrice (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ;
Stoepker, Chantal (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ;
Derkunt, Burak (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ;
Su, Yan (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ;
Raams, Anja (Erasmus MC Universitair Medisch Centrum Rotterdam) ;
Trujillo Quintero, Juan Pablo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Minguillón Pedreño, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Casado, José A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Baños, Rocío (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Knies, Kerstin (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya))) ;
Zúñiga, Sheila (Sistemas Genómicos. Departamento de Bioinformática) ;
Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bueren, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Jaspers, Nicolaas G. J. (Erasmus MC Universitair Medisch Centrum Rotterdam) ;
Schärer, Orlando D. (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ;
Winter, Johan P. de (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ;
Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ;
Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
BFanconi anemia (FA) is a rare genomic instability disorder characterized by progressive bone marrow failure and predisposition to cancer. FA-associated gene products are involved in the repair of DNA interstrand crosslinks (ICLs). [...]
2013 - 10.1016/j.ajhg.2013.04.002
American journal of human genetics, Vol. 92 (May 2013) , p. 800-806
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5.
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59 p, 1.7 MB |
Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations
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Kalba, Reinhard (University of Wurzburg. Department of Human Genetics) ;
Neveling, Kornelia (University of Wurzburg. Department of Human Genetics) ;
Hoehn, Holger (University of Wurzburg. Department of Human Genetics) ;
Schneider, Hildegard (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ;
Linka, Yvonne (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ;
Batishb, Sat Dev (The Rockefeller University. Laboratory of Human Genetics and Hematology) ;
Hunt, Curtis (University of New Mexico. Division of Epidemiology) ;
Berwick, Marianne (University of New Mexico. Division of Epidemiology) ;
Callén Moréu, Elsa (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Casado, José A. (CIEMAT. Hematopoietic Gene Therapy Program) ;
Bueren, Juan (CIEMAT. Hematopoietic Gene Therapy Program) ;
Dasí, Ángeles (Hospital Universitari i Politècnic La Fe (València)) ;
Soulier, Jean (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ;
Gluckman, Eliane (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ;
Zwaan, C. Michel (Erasmus MC Sophia Children's Hospital (Rotterdam). Department of Pediatric Hematology/Oncology) ;
Van Spaendonk, Rosalina (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ;
Pals, Gerard (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ;
Winter, Johan P. de (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ;
Joenje, Hans (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ;
Grompe, Markus (Oregon Health and Science University, Department of Medical and Molecular Genetics) ;
Auerbach, Arleen D. (The Rockefeller University. Laboratory of Human Genetics and Hematology) ;
Hanenberg, Helmut (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ;
Schindler, Detlev (University of Wurzburg. Department of Human Genetics)
FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a central role in DNA double-strand type damage responses. Using complementation assays and immunoblotting, a consortium of American and European groups assigned 29 FA patients from 23 families and 4 additional unrelated patients to complementation group FA-D2. [...]
2007 - 10.1086/517616
American journal of human genetics, Vol. 80, Núm. 5 (2007) , p. 895-910
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