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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang, Li Xin; Lemire, Gabrielle; Gonzaga-Jauregui, Claudia; Molidperee, Sirinart; Galaz-Montoya, Carolina; Liu, David S; Verloes, Alain; Shillington, Amelle G; Izumi, Kosuke; Ritter, Alyssa L; Keena, Beth; Zackai, Elaine; Li, Dong; Bhoj, Elizabeth; Tarpinian, Jennifer M; Bedoukian, Emma; Kukolich, Mary K; Innes, A Micheil; Ediae, Grace U; Sawyer, Sarah L; Nair, Karippoth Mohandas; Soumya, Para Chottil; Subbaraman, Kinattinkara R; Probst, Frank J; Bassetti, Jennifer A; Sutton, Reid V; Gibbs, Richard A; Brown, Chester; Boone, Philip M; Holm, Ingrid A; Tartaglia, Marco; Ferrero, Giovanni Battista; Niceta, Marcello; Dentici, Maria Lisa; Radio, Francesca Clementina; Keren, Boris; Wells, Constance F; Coubes, Christine; Laquerrière, Annie; Aziza, Jacqueline; Dubucs, Charlotte; Nampoothiri, Sheela; Mowat, David; Patel, Millan S; Bracho, Ana; Cammarata-Scalisi, Francisco; Gezdirici, Alper; Fernandez-Jaen, Alberto; Hauser, Natalie; Zarate, Yuri A.
Affiliation
  • Zhang LX; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC, Canada.
  • Lemire G; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.
  • Gonzaga-Jauregui C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Molidperee S; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC, Canada.
  • Galaz-Montoya C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Liu DS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Verloes A; Department of Genetics and INSERM UMR1141, APHP-Nord Université de Paris, Robert DEBRE Hospital, Paris and ERN-ITHACA, Paris, France.
  • Shillington AG; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Izumi K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ritter AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Keena B; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Li D; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Bhoj E; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Tarpinian JM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Kukolich MK; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Innes AM; Cook Children's Health Care System, Fort Worth, TX, USA.
  • Ediae GU; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
  • Sawyer SL; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
  • Nair KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Soumya PC; Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India.
  • Subbaraman KR; Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India.
  • Probst FJ; Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India.
  • Bassetti JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Sutton RV; Texas Children's Hospital, Houston, TX, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Brown C; Texas Children's Hospital, Houston, TX, USA.
  • Boone PM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Holm IA; Texas Children's Hospital, Houston, TX, USA.
  • Tartaglia M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Ferrero GB; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA.
  • Niceta M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Dentici ML; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Keren B; Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.
  • Wells CF; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Coubes C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Laquerrière A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Aziza J; Genetic department, AP-HP, Sorbonne Université, Paris, France.
  • Dubucs C; Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France.
  • Nampoothiri S; Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France.
  • Mowat D; Department of Pathology, Centre for Genomic and Personalized Medicine, UNIROUEN Normandie University, Inserm U1245, Normandy, Rouen, France.
  • Patel MS; Département anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France.
  • Bracho A; Département anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France.
  • Cammarata-Scalisi F; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India.
  • Gezdirici A; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.
  • Fernandez-Jaen A; BC Children's Hospital Research Institute and Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Hauser N; Genetic Research Institute, University of Zulia, Maracaibo, Venezuela.
  • Zarate YA; Medical Genetics, University of Los Andes, Mérida, Venezuela.
Genet Med ; 22(8): 1338-1347, 2020 08.
Article in En | MEDLINE | ID: mdl-32424177
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blepharophimosis / Intellectual Disability Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Canada
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blepharophimosis / Intellectual Disability Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Canada