Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder-Reference-Cited by-同舟云学术

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Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder

Published:2016-05-02 Issue:7 Volume:170 Page:1791-1798
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Millan Francisca¹,Cho Megan T.¹,Retterer Kyle¹,Monaghan Kristin G.¹,Bai Renkui¹,Vitazka Patrik¹,Everman David B.²,Smith Brooke²,Angle Brad³,Roberts Victoria³,Immken LaDonna⁴,Nagakura Honey⁴,DiFazio Marc⁵,Sherr Elliott⁶,Haverfield Eden¹,Friedman Bethany¹,Telegrafi Aida¹,Juusola Jane¹,Chung Wendy K.⁷,Bale Sherri¹

Affiliation:

1. GeneDx; Gaithersburg Maryland

2. Greenwood Genetic Center; Greenville South Carolina

3. Ann & Robert H. Lurie Children's Hospital of Chicago; Chicago Illinois

4. Specially For Children Genetics; Austin Texas

5. Children's Outpatient Center of Montgomery County; Rockville Maryland

6. Institute of Human Genetics; University of California; San Francisco California

7. Departments of Pediatrics and Medicine; Columbia University Medical Center; New York New York

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012

2. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay;Arboleda;Am J Hum Genet

3. The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREBB-binding protein;Borrow;Nat Genet,1996

4. The monocytic leukemia zinc finger protein MOZ is a histone acetyltransferase;Champagne;Oncogene,2001

5. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome;Clayton-Smith;Am J Hum Genet,2001

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1. Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome;Journal of Autism and Developmental Disorders;2024-08-17

2. Diagnosis of Arboleda‐Tham syndrome by whole‐exome sequencing in an Asian girl with severe developmental delay;Molecular Genetics & Genomic Medicine;2024-05

3. To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders;Neuroscience & Biobehavioral Reviews;2023-09

4. KAT6Amutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid model;2023-06-18

5. Dysregulated histone acetylation causes congenital diseases;Gene Reports;2023-06

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