Associated Papers
Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage.
Alimoradi E et al.
Molecular Genetics & Genomic Medicine, 2026
Domain-specific phenotypes in LINS1-related disorder-A Chinese family with the Q92X variant and literature review.
Li XY et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND
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
Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety.
Chen CH et al.
Biomedical Journal, 2021
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
Neuhofer CM et al.
Neurology. Genetics, 2020
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.
Muthusamy B et al.
Frontiers in Psychiatry, 2020
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
Sheth J et al.
American Journal of Medical Genetics. Part A, 2017
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Sheth H et al.
Neurology India, 0
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