Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.
Burgac E et al.
American Journal of Medical Genetics. Part A, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H et al.
Human Genomics, 2024
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.
Boruah R et al.
Journal of Clinical Medicine, 2022
Mucolipidosis type II and type III: a systematic review of 843 published cases.
Dogterom EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Bchetnia M et al.
Journal of Medical Genetics, 2021
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.
Wongkittichote P et al.
Molecular Genetics and Metabolism Reports, 2021
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Akter H et al.
Npj Genomic Medicine, 2021
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Pasumarthi D et al.
Journal of Human Genetics, 2020
Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level.
Matos L et al.
Human Gene Therapy, 2020
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.
Zanetti A et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
A neonate with mucolipidosis II and transient secondary hyperparathyroidism.
Leyva C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV et al.
Human Mutation, 2019
Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.
Kazemi N et al.
Gene, 2018
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Ludwig NF et al.
The International Journal of Biochemistry & Cell Biology, 2017
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
Encarnação M et al.
Clinical Genetics, 2009