Associated Papers
Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.
Raaz C et al.
Case Reports in Genetics, 2026
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic
Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Georges A et al.
Cardiovascular Research, 2021
32531060 (PubMed )
Supplement: cvaa161_supplementary_data.docx
Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.
Modi BP et al.
Bmc Medical Genetics, 2018
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Piton A et al.
Molecular Psychiatry, 2011
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Tarpey PS et al.
Nature Genetics, 2009
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