Associated Papers
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Viggiano M et al.
Npj Genomic Medicine, 2024
38519481 (PubMed )
Supplement: 41525_2024_411_MOESM1_ESM.pdf
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus AL et al.
Cell, 2024
38157855 (PubMed )
Supplement: NIHMS1949155-supplement-MMC1.pdf
Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.
Córdova-Fletes C et al.
Autoimmunity, 2020
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.
Bacchelli E et al.
Journal of Clinical Medicine, 2019
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
Zahir FR et al.
Bmc Genomics, 2017
28539120 (PubMed )
Supplement: 12864_2017_3671_MOESM8_ESM.xlsx › Patient_42
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240
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