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European Journal of Medical Genetics|March 18, 2008
Direct tandem duplication in chromosome 19q characterized by array CGHMaria Palomares Bralo, Alicia Delicado, Pablo Lapunzina, et al.Clinical Genetics|August 10, 2019
MAGEL2-related disorders: A study and case seriesJameson Patak, James Gilfert, Melissa Byler, et al.American Journal of Medical Genetics. Part A|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disordersLauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, et al.European Journal of Human Genetics : EJHG|March 20, 2025
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesityAnge-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan, et al.Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.Journal of Medical Genetics|July 24, 2017
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entityIlse Meerschaut, Daniel Rochefort, Nicole Revençu, et al.American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.Human Mutation|December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderSmitha Kumble, Amanda M Levy, Jaya Punetha, et al.Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.Pageof 2