Associated Papers
CDG due to Defective Membrane Transporters: Update.
Quelhas D et al.
Journal of Inherited Metabolic Disease, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?
Carrer A et al.
Genes, 2025
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
Webb RF et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Genetics, epidemiology and management of clubfoot and related disorders.
Umar M et al.
Genes & Diseases, 2025
Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.
Refeat MM et al.
Scientific Reports, 2025
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F et al.
Annals of Clinical and Translational Neurology, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder.
Marchelli G et al.
Journal of Pediatric Orthopedics, 2024
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
Kakar N et al.
Clinical Genetics, 2024
Substrate binding plasticity revealed by Cryo-EM structures of SLC26A2.
Hu W et al.
Nature Communications, 2024
Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia.
Madrid NY et al.
Journal, Genetic Engineering & Biotechnology, 2024
Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Paganini C et al.
Bone, 2023
Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.
Kimball TN et al.
Clinical Case Reports, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.
Bondarenko M et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M et al.
Iscience, 2023
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
Silveira C et al.
Molecular Syndromology, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Markova T et al.
Genes, 2022
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.
Rosina E et al.
Genes, 2022
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Smogavec M et al.
European Journal of Human Genetics : Ejhg, 2022
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.
Härkönen H et al.
Genes, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Study on pathogenic genes of dwarfism disease by next-generation sequencing.
Yang LL et al.
World Journal of Clinical Cases, 2021
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.
Dennis EP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
Genetic Association and Role of Surgery for the Treatment of Lower Limb Deformities in Diastrophic Dysplasia: A Case Report.
Tripathi AK et al.
Journal of Orthopaedic Case Reports, 2021
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Ruault V et al.
Arthritis & Rheumatology (hoboken, N.j.), 2020
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C et al.
Prenatal Diagnosis, 2020
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.
Sato T et al.
American Journal of Medical Genetics. Part A, 2020
Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.
Rosenblum LS et al.
Journal of Genetic Counseling, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.
Kausar M et al.
European Journal of Medical Genetics, 2019
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
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Role of N-glycosylation in the expression of human SLC26A2 and A3 anion transport membrane glycoproteins 1.
Rapp CL et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
Zhou T et al.
Bmc Medical Genetics, 2018