Associated Papers
Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.
Ormieres C et al.
Molecular Autism, 2025
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Seaby EG et al.
Human Genetics, 2023
36477409 (PubMed )
Supplement: 439_2022_2509_MOESM3_ESM.xlsx › Variant_review
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Bruscaggin A et al.
Blood Advances, 2021
34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33875846 (PubMed )
Supplement: 41436_2021_1159_MOESM2_ESM.xlsx › Heterozygous_variants
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Nadeu F et al.
Leukemia, 2018
28924241 (PubMed )
Supplement: leu2017291x4.xlsx › Table_S7
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