Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO et al.
The Journal of Clinical Investigation, 2024
38357931 (PubMed )
Supplement: jci-134-174824-s287.pdf
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
Deshwar AR et al.
American Journal of Medical Genetics. Part A, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1312.477
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