Associated Papers
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Neurological
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › all_variants_pooled
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data.
Saxena D et al.
Prenatal Diagnosis, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
Srivastava S et al.
Fetal and Pediatric Pathology, 2022
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
Szymanska K et al.
Cilia, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Lee JH et al.
Science (new York, N.y.), 2012
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