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Journal of Medical Genetics|January 26, 2017
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Genome Research|July 14, 2009
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applicationsTamim H Shaikh, Xiaowu Gai, Juan C Perin, et al.
The American Journal of Psychiatry|March 1, 2014
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeMaude Schneider, Martin Debbané, Anne S Bassett, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeMark C Hannibal, Kati J Buckingham, Sarah B Ng, et al.
Clinical Genetics|May 6, 2021
ANKRD11 variants: KBG syndrome and beyondIlaria Parenti, Mark B Mallozzi, Irina Hüning, et al.
Medrxiv : the Preprint Server for Health Sciences|December 8, 2025
Leveraging Clinical Neuroimaging to Chart Brain Structure in 22q11.2 Deletion SyndromeBenjamin Jung, J Eric Schmitt, Jakob Seidlitz, et al.
American Journal of Human Genetics|June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsPaweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.
The New England Journal of Medicine|July 29, 2011
A mosaic activating mutation in AKT1 associated with the Proteus syndromeMarjorie J Lindhurst, Julie C Sapp, Jamie K Teer, et al.
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