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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms, Frederike L; Dingemans, Alexander J M; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Müller, Christian; Niermeijer, Jikke-Mien F; Fischer, Jan; Jahn, Arne; Hübner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M S; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M; de Vries, Bert B A; Kutsche, Kerstin.
Affiliation
  • Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
  • Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Casar C; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Müller C; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Niermeijer JF; Department of Neurology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.
  • Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany.
  • Jahn A; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany.
  • Hübner C; Department of Neuropaediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Majore S; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
  • Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • van der Smagt J; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Ernst R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Barakat TS; 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.
  • Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom.
  • Kamath A; All Wales Medical Genomics Service/ Pennaeth Labordy Genomeg Cymru Gyfan, University Hospital of Wales, Heath Park, Cardiff, United Kingdom.
  • Downie L; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, VIC; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, VIC; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Bert.deVries@radboudumc.nl.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: kkutsche@uke.de.
Genet Med ; 25(10): 100927, 2023 10.
Article in En | MEDLINE | ID: mdl-37422718
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Craniofacial Abnormalities / Hypospadias Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Craniofacial Abnormalities / Hypospadias Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication: