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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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9 p, 1.8 MB |
Missense variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes
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Maia, Nuno (University of Porto) ;
Ibarluzea, Nekane (Instituto de Investigación Sanitaria Biocruces Bizkaia) ;
Misra-Isrie, Mala (Vrije Universiteit Amsterdam) ;
Koboldt, Daniel C. (The Ohio State University College of Medicine) ;
Marques, Isabel (University of Porto) ;
Soares, Gabriela (Centro Hospitalar de Trás-os-Montes e Alto douro) ;
Santos, Rosário (University of Porto) ;
Marcelis, Carlo L. M. (Radboud University Medical Center) ;
Keski-Filppula, Riikka (Oulu University Hospital (Finlàndia)) ;
Guitart, Míriam (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)) ;
Lehman, April (Nationwide Children's Hospital) ;
Hickey, Scott (Nationwide Children's Hospital) ;
Mori, Mari (Nationwide Children's Hospital) ;
Terhal, Paulien (Wilhelmina Children's Hospital) ;
Valenzuela, Irene (Hospital Universitari Vall d'Hebron) ;
Lasa-Aranzasti, Amaia (Hospital Universitari Vall d'Hebron) ;
Cueto-González, Anna Mª (Hospital Universitari Vall d'Hebron) ;
Chhouk, Brian H. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Yeh, Rebecca C. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Neil, Jennifer E. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Abu-Libde, Bassam (Makassed Hospital) ;
Kleefstra, Tjitske (Radboud University Medical Center) ;
Elting, Mariet W. (Vrije Universiteit Amsterdam) ;
Császár, Andrea (Hospital of Zala County) ;
Kárteszi, Judit (Hospital of Zala County) ;
Bessenyei, Beáta (University of Debrecen) ;
van Bokhoven, Hans (Radboud University Medical Center) ;
Jorge, Paula (University of Porto) ;
van Hagen, Johanna M. (Vrije Universiteit Amsterdam) ;
de Brouwer, Arjan P. M. (Radboud University Medical Center) ;
Universitat Autònoma de Barcelona
We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, or Ohdo syndrome. [...]
2022 - 10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part a, Vol. 191 (october 2022) , p. 135-143
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