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Human Mutation|May 31, 2019
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challengeMarco Carraro, Alexander Miguel Monzon, Luigi Chiricosta, et al.
Research Square|August 14, 2023
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, et al.
Human Genetics|January 9, 2025
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, et al.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Epidemiologia E Prevenzione|March 7, 2018
[Accurate compiling of the hospital discharge records according to clinicians' perception: critical issues and perspectives]Alessandra Mereu, Sara Frau, Alessandra Murgia, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneNele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
American Journal of Human Genetics|December 29, 2005
GJB2 mutations and degree of hearing loss: a multicenter studyRikkert L Snoeckx, Patrick L M Huygen, Delphine Feldmann, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
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