Acmg | List of Frontiers open access articles

Original Research

Published on 14 Jul 2023

Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency

in Hematology

Rosa Sonja Alesci
Carola Hecking
Benjamin Racké
Detlev Janssen
Carl-Erik Dempfle

Frontiers in Medicine

doi 10.3389/fmed.2023.1220813

3,964 views
4 citations

Original Research

Published on 02 Nov 2020

An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China

in Genetics of Common and Rare Diseases

Kuo Zhang
Guigao Lin
Dongsheng Han
Yanxi Han
Jian Wang
Yiping Shen
Jinming Li

Frontiers in Genetics

doi 10.3389/fgene.2020.582637

4,473 views
6 citations

Brief Research Report

Published on 25 Sep 2024

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

in Neurogenetics

Lassana Cissé
Salia Bamba
Seybou H. Diallo
Weizhen Ji
Mohamed Emile Dembélé
Abdoulaye Yalcouyé
Toumany Coulibaly
Ibrahima Traoré
Lauren Jeffries
Salimata Diarra

Frontiers in Neurology

doi 10.3389/fneur.2024.1455467

3,002 views
1 citation

Original Research

Published on 12 Oct 2023

Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma

in Ophthalmology

Shaoqing Yang
Ya Li
Lin Yang
Qingge Guo
Ya You
Bo Lei

Frontiers in Medicine

doi 10.3389/fmed.2023.1216427

4,170 views
6 citations

Original Research

Published on 13 Jan 2026

Identification of co-segregating GJA3 and CRYBA1 missense variants in a Chinese family with congenital cataract: a possible digenic etiology

in Ophthalmology

Chenchen Zhou
Kunke Li
Zhenxing Zhou
Shuhui Jian
Ling Jin
Chenghu Wang
Xiaoqian Zhang

Frontiers in Medicine

doi 10.3389/fmed.2025.1743231

644 views

Original Research

Published on 13 Mar 2020

Actionable Exomic Secondary Findings in 280 Lebanese Participants

in Genetics of Common and Rare Diseases

Nadine Jalkh
Cybel Mehawej
Eliane Chouery

Frontiers in Genetics

doi 10.3389/fgene.2020.00208

5,496 views
26 citations

Case Report

Published on 03 Sep 2025

Case Report: A case of Poirier–Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia

in Genetics of Common and Rare Diseases

Yuanyuan He
Qingqing Deng
Chen Chen
Zhanli Liu
Lingwei Weng

Frontiers in Pediatrics

doi 10.3389/fped.2025.1583346

1,780 views

Original Research

Published on 02 Nov 2023

Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance

in Genetics of Common and Rare Diseases

Zhen Li
Wanyu Cheng
Feiyin Zi
Juan Wang
Xiaoyu Huang
Xunlun Sheng
Weining Rong

Frontiers in Genetics

doi 10.3389/fgene.2023.1157156

4,461 views
1 citation

Brief Research Report

Published on 30 Jun 2020

Workflow for the Implementation of Precision Genomics in Healthcare

in Genomic Medicine

Sanja Mehandziska
Aleksandra Stajkovska
Margarita Stavrevska
Kristina Jakovleva
Marija Janevska
Rodney Rosalia
Ivan Kungulovski
Zan Mitrev
Goran Kungulovski

Frontiers in Genetics

doi 10.3389/fgene.2020.00619

9,112 views
6 citations

Original Research

Published on 15 Jul 2024

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

in Human and Medical Genomics

Zhen Li
Runqing Ma
Meijiao Ma
Xue Xiao
Xiaolong Qi
Hongjuan Ma
Xunlun Sheng
Weining Rong

Frontiers in Genetics

doi 10.3389/fgene.2024.1407361

3,214 views
1 citation

Case Report

Published on 25 Apr 2025

Exon 1 deletion of the androgen receptor gene causing complete androgen insensitivity syndrome in a newborn: a case report

in Neonatology

Shengxia Wang
Ya-Ting Zhang
Fan Wang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1508618

1,937 views
1 citation

Original Research

Published on 14 Oct 2022

Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations

in Alzheimer's Disease and Related Dementias

Yingzi Liu
Xuewen Xiao
Hui Liu
Xinxin Liao
Yafang Zhou
Ling Weng
Lu Zhou
Xixi Liu
Xiang-yun Bi
Tianyan Xu

Frontiers in Aging Neuroscience

doi 10.3389/fnagi.2022.1013295

6,498 views
9 citations

Case Report

Published on 03 Jun 2022

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

in Genetics of Common and Rare Diseases

Sebastián Castro
Franco G. Brunello
Gabriela Sansó
Paula Scaglia
María Esnaola Azcoiti
Agustín Izquierdo
Florencia Villegas
Ignacio Bergadá
María Gabriela Ropelato
Marcelo A. Martí

Frontiers in Pediatrics

doi 10.3389/fped.2022.887658

4,652 views
1 citation

Original Research

Published on 08 Aug 2024

Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission

in Genetics of Common and Rare Diseases

Zubo Wu
Tao Liang
Yi Liu
Xiaofang Ding
Defeng Shu

Frontiers in Genetics

doi 10.3389/fgene.2024.1389461

2,547 views
2 citations

Original Research

Published on 31 Aug 2023

Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome

in Cancer Genetics and Oncogenomics

Carla Pinto
Joana Guerra
Manuela Pinheiro
Carla Escudeiro
Catarina Santos
Pedro Pinto
Miguel Porto
Carla Bartosch
João Silva
Ana Peixoto

Frontiers in Genetics

doi 10.3389/fgene.2023.1254908

5,677 views
6 citations

Case Report

Published on 18 Nov 2024

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali

in Genetics of Common and Rare Diseases

Salia Bamba
Lala Sidibé
Seybou H. Diallo
Lassana Cissé
Kékouta Dembélé
Abdoulaye Yalcouyé
Weizhen Ji
Mohamed Emile Dembélé
Salimata Diarra
Alassane dit Baneye Maiga

Frontiers in Genetics

doi 10.3389/fgene.2024.1412442

4,060 views
1 citation

Articles

Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency

An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma

Identification of co-segregating GJA3 and CRYBA1 missense variants in a Chinese family with congenital cataract: a possible digenic etiology

Actionable Exomic Secondary Findings in 280 Lebanese Participants

Case Report: A case of Poirier–Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia

Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance

Workflow for the Implementation of Precision Genomics in Healthcare

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

Exon 1 deletion of the androgen receptor gene causing complete androgen insensitivity syndrome in a newborn: a case report

Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission

Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali