Brief Research Report

Published on 19 Nov 2019

Comparative Analysis of Microbiome in Nasopharynx and Middle Ear in Young Children With Acute Otitis Media

in Genetics of Common and Rare Diseases

Qingfu Xu
Steve Gill
Lei Xu
Eduardo Gonzalez
Michael E. Pichichero

Frontiers in Genetics

doi 10.3389/fgene.2019.01176

4,138 views
17 citations

Case Report

Published on 15 Nov 2019

Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver–Russell Syndrome

in Genetics of Common and Rare Diseases

Chun-Ling Xia
Yuan Lyu
Chuang Li
Huan Li
Zhi-Tao Zhang
Shao-Wei Yin
Yan Mao
Wen Li
Ling-Yin Kong
Bo Liang

Frontiers in Genetics

doi 10.3389/fgene.2019.01161

3,974 views
5 citations

Review

Published on 15 Nov 2019

Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN)

in Genetics of Common and Rare Diseases

Claire E. Fishman
Maede Mohebnasab
Jessica van Setten
Francesca Zanoni
Chen Wang
Silvia Deaglio
Antonio Amoroso
Lauren Callans
Teun van Gelder
Sangho Lee

Frontiers in Genetics

doi 10.3389/fgene.2019.01084

5,115 views
14 citations

Original Research

Published on 14 Nov 2019

In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency

in Genetics of Common and Rare Diseases

Wen-Juan Xiao
Wen-Bin He
Ya-Xin Zhang
Lan-Lan Meng
Guang-Xiu Lu
Ge Lin
Yue-Qiu Tan
Juan Du

Frontiers in Genetics

doi 10.3389/fgene.2019.01016

6,632 views
28 citations

Original Research

Published on 14 Nov 2019

Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature

in Genetics of Common and Rare Diseases

Thomas Liehr
Anja Weise
Kristin Mrasek
Monika Ziegler
Niklas Padutsch
Kathleen Wilhelm
Ahmed Al-Rikabi

Frontiers in Genetics

doi 10.3389/fgene.2019.01165

17,000 views
10 citations

Original Research

Published on 13 Nov 2019

An Integrated Analysis of Radial Spoke Head and Outer Dynein Arm Protein Defects and Ciliogenesis Abnormality in Nasal Polyps

in Genetics of Common and Rare Diseases

Xiao-xue Zi
Wei-jie Guan
Yang Peng
Kai Sen Tan
Jing Liu
Ting-ting He
Yew-kwang Ong
Mark Thong
Li Shi
De-yun Wang

Frontiers in Genetics

doi 10.3389/fgene.2019.01083

4,073 views
5 citations

Case Report

Published on 08 Nov 2019

Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?

in Genetics of Common and Rare Diseases

Cecilia Garcia
Jose Manuel Vidal-Taboada
Enrique Syriani
Maria Salvado
Miguel Morales
Josep Gamez

Frontiers in Genetics

doi 10.3389/fgene.2019.01109

5,794 views
1 citation

Case Report

Published on 08 Nov 2019

A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report

in Genetics of Common and Rare Diseases

Walaa Kamal Eldin Mohamed
Mona Mahfood
Abdullah Al Mutery
Sallam Hasan Abdallah
Abdelaziz Tlili

Frontiers in Genetics

doi 10.3389/fgene.2019.01087

4,011 views
4 citations

Case Report

Published on 08 Nov 2019

Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function

in Genetics of Common and Rare Diseases

Hongfeng Zhang
Lin Zhu
Fengpeng Wang
Ruimin Wang
Yujuan Hong
Yangqin Chen
Bin Zhu
Yue Gao
Hong Luo
Xian Zhang

Frontiers in Genetics

doi 10.3389/fgene.2019.00912

5,621 views
13 citations

Case Report

Published on 07 Nov 2019

Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases

in Genetics of Common and Rare Diseases

Hui Lin
Jian-Wu Qiu
Yaqub-Muhammad Rauf
Gui-Zhi Lin
Rui Liu
Li-Jing Deng
Mei Deng
Yuan-Zong Song

Frontiers in Genetics

doi 10.3389/fgene.2019.01108

6,866 views
8 citations

Case Report

Published on 06 Nov 2019

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

in Genetics of Common and Rare Diseases

Yixi Sun
Yuqin Luo
Yeqing Qian
Min Chen
Liya Wang
Hongge Li
Yu Zou
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2019.01086

6,224 views
12 citations

Case Report

Published on 05 Nov 2019

Capillary Malformation–Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of RASA1 and NOTCH2

in Genetics of Common and Rare Diseases

Yu Zheng
Yuming Peng
Shuju Zhang
Liping Li
Yu Peng
Qiang Yin

Frontiers in Genetics

doi 10.3389/fgene.2019.01088

4,542 views
4 citations

Mini Review

Published on 01 Nov 2019

What Is Karyotype Coding and Why Is Genomic Topology Important for Cancer and Evolution?

in Genetics of Common and Rare Diseases

Christine J. Ye
Lukas Stilgenbauer
Amanda Moy
Guo Liu
Henry H. Heng

Frontiers in Genetics

doi 10.3389/fgene.2019.01082

16,540 views
53 citations

Case Report

Published on 31 Oct 2019

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

in Genetics of Common and Rare Diseases

María Isabel Tejada
Olatz Villate
Nekane Ibarluzea
Ana Belén de la Hoz
Cristina Martínez-Bouzas
Elena Beristain
Francisco Martínez
Michael J. Friez
Beatriz Sobrino
Francisco Barros

Frontiers in Genetics

doi 10.3389/fgene.2019.01074

4,330 views
15 citations

Original Research

Published on 31 Oct 2019

Combined Effects of UGT1A1 and SLCO1B1 Variants on Chinese Adult Mild Unconjugated Hyperbilirubinemia

in Genetics of Common and Rare Diseases

Jie Bai
Lei Luo
Shuang Liu
Chen Liang
Li Bai
Yu Chen
Sujun Zheng
Zhongping Duan

Frontiers in Genetics

doi 10.3389/fgene.2019.01073

4,945 views
10 citations

Original Research

Published on 31 Oct 2019

The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials

in Genetics of Common and Rare Diseases

Anett Illés
Dóra Csabán
Zoltán Grosz
Péter Balicza
András Gézsi
Viktor Molnár
Renáta Bencsik
Anikó Gál
Péter Klivényi
Maria Judit Molnar

Frontiers in Genetics

doi 10.3389/fgene.2019.01061

5,841 views
11 citations

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Articles

Comparative Analysis of Microbiome in Nasopharynx and Middle Ear in Young Children With Acute Otitis Media

Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver–Russell Syndrome

Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN)

In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency

Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature

An Integrated Analysis of Radial Spoke Head and Outer Dynein Arm Protein Defects and Ciliogenesis Abnormality in Nasal Polyps

Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?

A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report

Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function

Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Capillary Malformation–Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of RASA1 and NOTCH2

What Is Karyotype Coding and Why Is Genomic Topology Important for Cancer and Evolution?

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

Combined Effects of UGT1A1 and SLCO1B1 Variants on Chinese Adult Mild Unconjugated Hyperbilirubinemia

The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials