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Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
Science (New York, N.Y.)|May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
Nature Communications|January 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersKevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, et al.
The American Journal of Psychiatry|February 13, 2020
Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric IllnessChristopher R K Ching, Boris A Gutman, Daqiang Sun, et al.
Nature Genetics|October 27, 2009
Microduplications of 16p11.2 are associated with schizophreniaShane E McCarthy, Vladimir Makarov, George Kirov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
The Hidden Architecture of Brain Structural Variability in 22q11.2 Deletion Syndrome: A Multi-site StudyRune Boen, Kathleen P O'Hora, Hoki Fung, et al.
Journal of Medical Genetics|April 6, 2017
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Hongjie Yuan, Hannah Schütz, et al.
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