Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities-Reference-Cited by-同舟云学术

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

Published:2020-06-26 Issue:9 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yamada Mamiko¹^ORCID,Shiraishi Yuichi²,Uehara Tomoko¹^ORCID,Suzuki Hisato¹,Takenouchi Toshiki³^ORCID,Abe‐Hatano Chihiro⁴,Kurosawa Kenji⁴,Kosaki Kenjiro¹

Affiliation:

1. Center for Medical Genetics Keio University School of Medicine Tokyo Japan

2. Section of Genome Analysis Platform Center for Cancer Genomic and Advanced Therapeutics National Cancer Center Research Institute Tokyo Japan

3. Department of Pediatrics Keio University School of Medicine Tokyo Japan

4. Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan

Funder

Grant-in-Aid for Early-Career Scientists by JSPS KAKENHI

Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1364

Reference16 articles.

1. Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature

2. GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK

3. OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data

4. Control of alternative splicing by forskolin through hnRNP K during neuronal differentiation

5. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

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1. Au-Kline Syndrome (AUKS);Genetic Syndromes;2024

2. Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions;European Journal of Human Genetics;2023-11-29

3. Café-au-lait Spots and Cleft Palate: Not a Chance Association;The Cleft Palate Craniofacial Journal;2023-07-14

4. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome;The American Journal of Human Genetics;2022-10

5. Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome;Frontiers in Genetics;2022-03-29