Case Report

Published on 21 Aug 2023

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

in Genetics of Common and Rare Diseases

Huan Wu
Long Wu
Quan Zhang
Bao-fang Zhang

Frontiers in Genetics

doi 10.3389/fgene.2023.1229271

2,030 views
1 citation

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

1,307 views

Original Research

Published on 17 Aug 2023

Fetal hyperechoic kidney cohort study and a meta-analysis

in Genetics of Common and Rare Diseases

Wei Yang
Shujing Zu
Qiu Jin
Yu Liu
Chao Wang
Huimin Shen
Ruijing Wang
Hui Zhang
Meimei Liu

Frontiers in Genetics

doi 10.3389/fgene.2023.1237912

3,557 views
1 citation

Original Research

Published on 16 Aug 2023

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

in Genetics of Common and Rare Diseases

Satoko Ishikawa
Shujiro Hayashi
Toshimi Sairenchi
Manabu Miyamoto
Shigemi Yoshihara
Gen Kobashi
Tomomi Yamaguchi
Tomoki Kosho
Ken Igawa

Frontiers in Genetics

doi 10.3389/fgene.2023.1238209

2,510 views
2 citations

Correction

Published on 15 Aug 2023

Corrigendum: A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

in Genetics of Common and Rare Diseases

Juyi Li
Tao Luo
Xiufang Wang
Mengjie Wang
Tao Zheng
Xiao Dang
Aiping Deng
Youzhi Zhang
Sheng Ding
Ping Jing

Frontiers in Genetics

doi 10.3389/fgene.2023.1273023

1,044 views

Case Report

Published on 10 Aug 2023

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

in Genetics of Common and Rare Diseases

Roberta Zuntini
Chiara Cattani
Lucia Pedace
Evelina Miele
Stefano Giuseppe Caraffi
Stefano Gardini
Elena Ficarelli
Simone Pizzi
Francesca Clementina Radio
Angelica Barone

Frontiers in Genetics

doi 10.3389/fgene.2023.1231434

2,746 views

Original Research

Published on 09 Aug 2023

Colocalization of corneal resistance factor GWAS loci with GTEx e/sQTLs highlights plausible candidate causal genes for keratoconus postnatal corneal stroma weakening

in Genetics of Common and Rare Diseases

Xinyi Jiang
Thibaud Boutin
Veronique Vitart

Frontiers in Genetics

doi 10.3389/fgene.2023.1171217

3,499 views

Original Research

Published on 08 Aug 2023

Long-term safety and dose escalation of intracerebroventricular CLN5 gene therapy in sheep supports clinical translation for CLN5 Batten disease

in Genetics of Common and Rare Diseases

Nadia L. Mitchell
Samantha J. Murray
Martin P. Wellby
Graham K. Barrell
Katharina N. Russell
Ashley R. Deane
John R. Wynyard
Madeleine J. Palmer
Anila Pulickan
Phillipa M. Prendergast

Frontiers in Genetics

doi 10.3389/fgene.2023.1212228

2,401 views
2 citations

Brief Research Report

Published on 07 Aug 2023

Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?

in Genetics of Common and Rare Diseases

A. Grossi
M. Rusmini
R. Cusano
M. Massidda
G. Santamaria
F. Napoli
A. Angelelli
D. Fava
P. Uva
I. Ceccherini

Frontiers in Genetics

doi 10.3389/fgene.2023.1031074

2,206 views
4 citations

Case Report

Published on 27 Jul 2023

Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

in Genetics of Common and Rare Diseases

Praseetha Kizhakkedath
Watfa AlDhaheri
Ibrahim Baydoun
Mohammed Tabouni
Anne John
Taleb M. Almansoori
Saeed Al-Turki
Fatma Al-Jasmi
Hiba Alblooshi

Frontiers in Genetics

doi 10.3389/fgene.2023.1219514

1,789 views
1 citation

Brief Research Report

Published on 25 Jul 2023

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge

in Genetics of Common and Rare Diseases

Mihael Rogac
Anja Kovanda
Luca Lovrečić
Borut Peterlin

Frontiers in Genetics

doi 10.3389/fgene.2023.1173426

1,550 views
2 citations

Original Research

Published on 24 Jul 2023

Transcriptome sequencing reveals novel molecular features of SLE severity

in Genetics of Common and Rare Diseases

Xiaojing Zhang
Jiali Zhang
Zhaobing Pan
Yuxi Zhang
Xiaoqing Xu
Yujun Sheng
Zhengwei Zhu
Fusheng Zhou
Leilei Wen

Frontiers in Genetics

doi 10.3389/fgene.2023.1121359

3,834 views
3 citations

Case Report

Published on 20 Jul 2023

Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family

in Genetics of Common and Rare Diseases

C. Vinciguerra
A. Di Fonzo
E. Monfrini
D. Ronchi
S. Cuoco
G. Piscosquito
P. Barone
M. T Pellecchia

Frontiers in Genetics

doi 10.3389/fgene.2023.1235887

2,376 views
3 citations

Original Research

Published on 20 Jul 2023

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation

in Genetics of Common and Rare Diseases

Ilaria Persico
Giorgia Fontana
Michela Faleschini
Melania Eva Zanchetta
Daniele Ammeti
Enrico Cappelli
Fabio Corsolini
Clara Mosa
Angela Guarina
Massimo Bogliolo

Frontiers in Genetics

doi 10.3389/fgene.2023.1209138

2,314 views
1 citation

Case Report

Published on 18 Jul 2023

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder

in Genetics of Common and Rare Diseases

Karin Writzl
Blaž Mavčič
Aleš Maver
Alenka Hodžić
Borut Peterlin

Frontiers in Genetics

doi 10.3389/fgene.2023.1167054

2,255 views
3 citations

Case Report

Published on 17 Jul 2023

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum

in Genetics of Common and Rare Diseases

Alessandro Vimercati
Pierpaola Tannorella
Eleonora Orlandini
Luciano Calzari
Mirella Moro
Sara Guzzetti
Angelo Selicorni
Milena Crippa
Lidia Larizza
Maria Teresa Bonati

Frontiers in Genetics

doi 10.3389/fgene.2023.1198821

2,266 views
1 citation

Navigation group

Articles

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

Unraveling haplotype errors in the DFNA33 locus

Fetal hyperechoic kidney cohort study and a meta-analysis

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

Corrigendum: A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

Colocalization of corneal resistance factor GWAS loci with GTEx e/sQTLs highlights plausible candidate causal genes for keratoconus postnatal corneal stroma weakening

Long-term safety and dose escalation of intracerebroventricular CLN5 gene therapy in sheep supports clinical translation for CLN5 Batten disease

Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?

Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge

Transcriptome sequencing reveals novel molecular features of SLE severity

Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum