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American Journal of Human Genetics|May 11, 2005
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsAlice S Brooks, Aida M Bertoli-Avella, Grzegorz M Burzynski, et al.Nature Genetics|August 15, 2006
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, et al.Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.Circulation|October 4, 2017
Identification of MicroRNA-124 as a Major Regulator of Enhanced Endothelial Cell Glycolysis in Pulmonary Arterial Hypertension via PTBP1 (Polypyrimidine Tract Binding Protein) and Pyruvate Kinase M2Paola Caruso, Benjamin J Dunmore, Kenny Schlosser, et al.Nature Genetics|August 10, 2004
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeLisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.American Journal of Human Genetics|July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates TranscriptionCristina Dias, Sara B Estruch, Sarah A Graham, et al.BMJ Open|October 23, 2021
Vitamin D insufficiency in COVID-19 and influenza A, and critical illness survivors: a cross-sectional studyEmma A Hurst, Richard J Mellanby, Ian Handel, et al.Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.Pageof 34