Your browser doesn't support javascript.
loading
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H; Dean, S Joy; Gooch, Catherine; Murray, Brianna K; Swartz, Erin; Schrier Vergano, Samantha A; Towne, Meghan C; Nugent, Kimberly; Roeder, Elizabeth R; Kresge, Christina; Pletcher, Beth A; Grand, Katheryn; Graham, John M; Gates, Ryan; Gomez-Ospina, Natalia; Ramanathan, Subhadra; Clark, Robin Dawn; Glaser, Kimberly; Benke, Paul J; Cohen, Julie S; Fatemi, Ali; Mu, Weiyi; Baranano, Kristin W; Madden, Jill A; Gubbels, Cynthia S; Yu, Timothy W; Agrawal, Pankaj B; Chambers, Mary-Kathryn; Phornphutkul, Chanika; Pugh, John A; Tauber, Kate A; Azova, Svetlana; Smith, Jessica R; O'Donnell-Luria, Anne; Medsker, Hannah; Srivastava, Siddharth; Krakow, Deborah; Schweitzer, Daniela N; Arboleda, Valerie A.
Affiliation
  • Yabumoto M; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
  • Kianmahd J; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
  • Singh M; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
  • Palafox MF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
  • Wei A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
  • Elliott K; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
  • Goodloe DH; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
  • Dean SJ; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
  • Gooch C; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
  • Murray BK; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Swartz E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Schrier Vergano SA; Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA.
  • Towne MC; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
  • Nugent K; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
  • Roeder ER; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
  • Kresge C; Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Pletcher BA; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.
  • Grand K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Graham JM; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.
  • Gates R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gomez-Ospina N; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
  • Ramanathan S; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
  • Clark RD; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
  • Glaser K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
  • Benke PJ; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.
  • Cohen JS; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.
  • Fatemi A; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
  • Mu W; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
  • Baranano KW; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Madden JA; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Gubbels CS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Yu TW; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Agrawal PB; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Chambers MK; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Phornphutkul C; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Pugh JA; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Tauber KA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Azova S; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Smith JR; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • O'Donnell-Luria A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Medsker H; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Srivastava S; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Krakow D; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Schweitzer DN; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA.
  • Arboleda VA; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA.
Mol Genet Genomic Med ; 9(10): e1809, 2021 10.
Article in En | MEDLINE | ID: mdl-34519438
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Predisposition to Disease / Histone Acetyltransferases / Genetic Association Studies / Mutation Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Predisposition to Disease / Histone Acetyltransferases / Genetic Association Studies / Mutation Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos