X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly, +81

Molecular Psychiatry

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Guy Froyen, Stefanie Belet, Francisco Martı́nez, +21

The American Journal of Human Genetics

Genome InstabilityCell DivisionNatural SciencesGeneticsDna Replication +8

Large-scale analysis of tandem repeat variability in the human genome

Jorge Duitama, Alena Zablotskaya, Rita Gemayel, +5

Nucleic Acids Research

GeneticsGenetic EpidemiologyDisease Gene IdentificationGenomicsRepeat Expansions +20

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

Lieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, +11

Human Mutation

Clinical SymptomsBrain FunctionGeneticsMolecular GeneticsClinical Neuroscience +19

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

Nathalie Fieremans, Marijke Bauters, Stefanie Belet, +7

Human Genetics

Mecp2 DuplicationsMendelian DisorderGenetic DisorderGeneticsFragile X Spectrum +6

Early Frameshift Mutation in<i>PIGA</i>Identified in a Large XLID Family Without Neonatal Lethality

Stefanie Belet, Nathalie Fieremans, Xuan Yuan, +9

Human Mutation

BiologyCd59 Surface ExpressionTruncated ProteinDevelopmental BiologySomatic Variant +13

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

Cíntia Barros Santos-Rebouças, Stefanie Belet, Luciana Guedes de Almeida, +8

European Journal of Human Genetics

Molecular NeuroscienceBrain FunctionNeuropsychiatrySocial SciencesNeuroscience +6

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

Nathalie Fieremans, Hilde Van Esch, Thomy de Ravel, +4

European Journal of Medical Genetics

Intellectual ImpairmentEscape Genes Kdm5cDevelopmental BiologySyndromic AutismGenetic Disorder +9

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

Joke Vandewalle, Marijke Bauters, Hilde Van Esch, +17

Human Genetics

Mendelian DisorderNon-syndromic Intellectual DisabilityGenetic DisorderGeneticsFragile X Spectrum +5

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability

Cíntia Barros Santos-Rebouças, Luciana Guedes de Almeida, Stefanie Belet, +9

Journal of Human Genetics

Novel MicroduplicationsMedicineGeneticsGenetic DisorderGenomic Mechanism +7