TY  - GEN
AU  - de Boer, Elke
AU  - Yaldiz, Burcu
AU  - Denommé-Pichon, Anne-Sophie
AU  - Matalonga, Leslie
AU  - Laurie, Steve
AU  - Solve-RD SNV-indel working group
AU  - Solve-RD-DITF-ITHACA
AU  - Cuesta de la Plaza, Isabel
AU  - Posada De la Paz, Manuel
PY  - 2022
DO  - 10.1016/j.ejmg.2021.104402
SN  - 1769-7212
UR  - http://hdl.handle.net/20.500.12105/15565
AB  - Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed,...
LA  - eng
PB  - Elsevier
KW  - TUBB3
KW  - Exome sequencing
KW  - Genome-wide variant calling
KW  - Solve-RD
KW  - ERN ITHACA
KW  - Adolescent
KW  - Brain
KW  - Developmental Disabilities
KW  - Face
KW  - Female
KW  - Humans
KW  - Intellectual Disability
KW  - Microcephaly
KW  - Mutation, Missense
KW  - Strabismus
KW  - Tubulin
KW  - Exome Sequencing
TI  - Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
TY  - research article
ER  -