Deep Intronic Variant | List of Frontiers open access articles

Original Research

Published on 19 Mar 2025

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

in Human and Medical Genomics

Qingming Wang
Fang Zhang
Xinlong Zhou
Hui Li
Juan Zhao
Haiming Yuan

Frontiers in Genetics

doi 10.3389/fgene.2025.1564824

2,231 views

Case Report

Published on 06 Jul 2023

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

in Human and Medical Genomics

Olga Levchenko
Alexandra Filatova
Irina Mishina
Aleksey Antonenko
Mikhail Skoblov

Frontiers in Genetics

doi 10.3389/fgene.2023.1197681

4,084 views
4 citations

Brief Research Report

Published on 21 Aug 2023

Unraveling haplotype errors in the DFNA33 locus

in Genetics of Common and Rare Diseases

Barbara Vona
Sabrina Regele
Aboulfazl Rad
Nicola Strenzke
Justin A. Pater
Katrin Neumann
Marc Sturm
Tobias B. Haack
Antoinette G. Am Zehnhoff-Dinnesen

Frontiers in Genetics

doi 10.3389/fgene.2023.1214736

2,429 views
2 citations

Original Research

Published on 31 Mar 2022

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease

in Human and Medical Genomics

Xiufang Zhi
Qi Ai
Wenchao Sheng
Yuping Yu
Jianbo Shu
Changshun Yu
Xiaoli Yu
Dong Li
Chunquan Cai

Frontiers in Genetics

doi 10.3389/fgene.2022.852764

5,916 views
3 citations

Case Report

Published on 25 Jan 2022

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia

in Genetics of Common and Rare Diseases

Tatiana Maroilley
Nicola A. M. Wright
Catherine Diao
Linda MacLaren
Gerald Pfeffer
Justyna R. Sarna
Ping Yee Billie Au
Maja Tarailo-Graovac

Frontiers in Genetics

doi 10.3389/fgene.2022.815210

5,345 views
10 citations

Original Research

Published on 08 Aug 2025

Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis–Varon syndrome

in Genetics of Common and Rare Diseases

Hui Tang
Qingqing Chen
Jingjing Xiang
Qin Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1624122

1,534 views

Case Report

Published on 18 Dec 2023

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

in Genetics of Common and Rare Diseases

Matthew M. Gayed
Paulo Sgobbi
Wladimir Bocca Viera De Rezende Pinto
Priya S. Kishnani
Rebecca L. Koch

Frontiers in Genetics

doi 10.3389/fgene.2023.1282790

4,910 views
6 citations

Original Research

Published on 02 Mar 2021

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

in Human and Medical Genomics

Xinye Qian
Jun Wang
Meng Wang
Austin D. Igelman
Kaylie D. Jones
Yumei Li
Keqing Wang
Kerry E. Goetz
David G. Birch
Paul Yang

Frontiers in Genetics

doi 10.3389/fgene.2021.647400

14,176 views
59 citations

Articles

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

Unraveling haplotype errors in the DFNA33 locus

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia

Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis–Varon syndrome

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases