Original Research

Published on 04 Apr 2024

Analysis of SIRT1 genetic variants in young Mexican individuals: relationships with overweight and obesity

in Genetics of Common and Rare Diseases

S. Salazar-García
A. Ibáñez-Salazar
E. Lares-Villaseñor
Noemi Gaytan Pacheco
E. Uresti-Rivera
D. P. Portales-Pérez
U. De la Cruz-Mosso
J. M. Vargas-Morales

Frontiers in Genetics

doi 10.3389/fgene.2024.1278201

1,334 views

Review

Published on 04 Apr 2024

Stigma associated with genetic testing for rare diseases—causes and recommendations

in Genetics of Common and Rare Diseases

Gareth Baynam
Roy Gomez
Ritu Jain

Frontiers in Genetics

doi 10.3389/fgene.2024.1335768

2,502 views
2 citations

Case Report

Published on 02 Apr 2024

Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss

in Genetics of Common and Rare Diseases

Haemi Choi
Jeong-A. Kim
Kyung-Ok Cho
Hyun Jung Kim
Min-Hyeon Park

Frontiers in Genetics

doi 10.3389/fgene.2024.1355823

1,498 views

Original Research

Published on 27 Mar 2024

Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype

in Genetics of Common and Rare Diseases

Takaya Iida
Arisa Igarashi
Kae Fukunaga
Taiga Aoki
Tomomi Hidai
Kumiko Yanagi
Masahiko Yamamori
Kazuhito Satou
Hayato Go
Tomoki Kosho

Frontiers in Genetics

doi 10.3389/fgene.2024.1383176

2,368 views
2 citations

Original Research

Published on 26 Mar 2024

Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype

in Genetics of Common and Rare Diseases

Maria Mabyalwa Mudau
Bronwyn Dillon
Clarice Smal
Candice Feben
Engela Honey
Nadia Carstens
Amanda Krause

Frontiers in Genetics

doi 10.3389/fgene.2024.1331278

1,972 views
1 citation

Review

Published on 26 Mar 2024

The complex landscape of DMD mutations: moving towards personalized medicine

in Genetics of Common and Rare Diseases

Francesca Gatto
Silvia Benemei
Giulio Piluso
Luca Bello

Frontiers in Genetics

doi 10.3389/fgene.2024.1360224

3,386 views

Original Research

Published on 20 Mar 2024

The genetic landscape of autism spectrum disorder in the Middle Eastern population

in Genetics of Common and Rare Diseases

Yasser Al-Sarraj
Rowaida Z. Taha
Eman Al-Dous
Dina Ahram
Somayyeh Abbasi
Eman Abuazab
Hibah Shaath
Wesal Habbab
Khaoula Errafii‬
Yosra Bejaoui

Frontiers in Genetics

doi 10.3389/fgene.2024.1363849

4,843 views

Original Research

Published on 18 Mar 2024

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis

in Genetics of Common and Rare Diseases

Florencia Brito
Catalina Lagos
Jessica Cubillos
Joan Orellana
Mallen Gajardo
Daniela Böhme
Gonzalo Encina
Gabriela M. Repetto

Frontiers in Genetics

doi 10.3389/fgene.2024.1278198

2,591 views

Original Research

Published on 06 Mar 2024

Elucidating the role of TWIST1 in ulcerative colitis: a comprehensive bioinformatics and machine learning approach

in Genetics of Common and Rare Diseases

Wenjie Ou
Zhaoxue Qi
Ning Liu
Junzi Zhang
Xuguang Mi
Yuan Song
Yanqiu Fang
Baiying Cui
Junjie Hou
Zhixin Yuan

Frontiers in Genetics

doi 10.3389/fgene.2024.1296570

2,183 views

Review

Published on 04 Mar 2024

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus

in Genetics of Common and Rare Diseases

Nicholas Kim-Wah Yeo
Che Kang Lim
Katherine Nay Yaung
Nicholas Kim Huat Khoo
Thaschawee Arkachaisri
Salvatore Albani
Joo Guan Yeo

Frontiers in Genetics

doi 10.3389/fgene.2024.1341272

2,362 views
1 citation

Original Research

Published on 29 Feb 2024

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

in Genetics of Common and Rare Diseases

Emma M. J. Passchier
Quinty Bisseling
Guy Helman
Rosalina M. L. van Spaendonk
Cas Simons
René C. L. Olsthoorn
Hieke van der Veen
Truus E. M. Abbink
Marjo S. van der Knaap
Rogier Min

Frontiers in Genetics

doi 10.3389/fgene.2024.1352947

2,656 views
3 citations

Brief Research Report

Published on 26 Feb 2024

Functional polymorphisms of NOS3 and GUCY1A3 affect both nitric oxide formation and association with hypertensive disorders of pregnancy

in Genetics of Common and Rare Diseases

Daniela A. Pereira
Marcelo R. Luizon
Ana C. Palei
José E. Tanus-Santos
Ricardo C. Cavalli
Valeria C. Sandrim

Frontiers in Genetics

doi 10.3389/fgene.2024.1293082

1,939 views
2 citations

Mini Review

Published on 15 Feb 2024

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

in Genetics of Common and Rare Diseases

Bianca Panis
E. Naomi Vos
Ivo Barić
Annet M. Bosch
Martijn C. G. J. Brouwers
Alberto Burlina
David Cassiman
David J. Coman
María L. Couce
Anibh M. Das

Frontiers in Genetics

doi 10.3389/fgene.2024.1355962

4,932 views
2 citations

Correction

Published on 15 Feb 2024

Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease

in Genetics of Common and Rare Diseases

Irene Simonetta
Renata Riolo
Federica Todaro
Vincenzo Donadio
Alex Incensi
Salvatore Miceli
Paolo Colomba
Giovanni Duro
Antonino Tuttolomondo

Frontiers in Genetics

doi 10.3389/fgene.2024.1368953

1,245 views

Original Research

Published on 12 Feb 2024

Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome

in Genetics of Common and Rare Diseases

Mingyu Zhao
Xiaolu Meng
Jiaqi Wang
Tailing Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1343411

1,159 views
1 citation

Review

Published on 12 Feb 2024

MECP2-related disorders while gene-based therapies are on the horizon

in Genetics of Common and Rare Diseases

Katherine Allison
Mirjana Maletic-Savatic
Davut Pehlivan

Frontiers in Genetics

doi 10.3389/fgene.2024.1332469

3,606 views
2 citations

Navigation group

Articles

Analysis of SIRT1 genetic variants in young Mexican individuals: relationships with overweight and obesity

Stigma associated with genetic testing for rare diseases—causes and recommendations

Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss

Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype

Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype

The complex landscape of DMD mutations: moving towards personalized medicine

The genetic landscape of autism spectrum disorder in the Middle Eastern population

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis

Elucidating the role of TWIST1 in ulcerative colitis: a comprehensive bioinformatics and machine learning approach

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

Functional polymorphisms of NOS3 and GUCY1A3 affect both nitric oxide formation and association with hypertensive disorders of pregnancy

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease

Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome

MECP2-related disorders while gene-based therapies are on the horizon