Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis.
Prusty AB et al.
Cell Reports, 2024
In Vitro Modeling as a Tool for Testing Therapeutics for Spinal Muscular Atrophy and IGHMBP2-Related Disorders.
Sierra-Delgado JA et al.
Biology, 2023
Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review.
Tian Y et al.
Frontiers in Neuroscience, 2023
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.
Rzepnikowska W et al.
International Journal of Molecular Sciences, 2022
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Smith CE et al.
Human Molecular Genetics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Tolusso LK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
Clinical diversity caused by novel IGHMBP2 variants.
Yuan JH et al.
Journal of Human Genetics, 2017
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
Luan X et al.
Brain & Development, 2016
Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.
Martin J et al.
Fertility and Sterility, 2015
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.
Wagner JD et al.
Neuromuscular Disorders : Nmd, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Gonzaga-Jauregui C et al.
Cell Reports, 2015
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E et al.
American Journal of Human Genetics, 2014
One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.
Litvinenko I et al.
Journal of Child Neurology, 2014
[A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
Chalançon M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2012
Interfamilial phenotypic heterogeneity in SMARD1.
Joseph S et al.
Neuromuscular Disorders : Nmd, 2009
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Guenther UP et al.
Human Mutation, 2007
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Maystadt I et al.
Human Mutation, 2004
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K et al.
Annals of Neurology, 2003
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.
San Millan B et al.
Clinical Neuropathology, 0