Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Laurence Heidet, Vincent Morinière, C. Henry, +21

Journal of the American Society of Nephrology

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

Mara Cavallin, Maria A. Rujano, Nathalie Bednarek, +31

Brain

Brain DevelopmentNeurological DisorderGeneticsSevere MicrocephalyDisease Gene Identification +22

Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish

Madeline Louise Reilly, Marijn F. Stokman, Virginie Magry, +18

Human Molecular Genetics

Kif14 MutationsGeneticsOrgan DevelopmentMitotic KinesinEpendyma +14

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

Loïc Broix, Laure Asselin, Carla G. Silva, +17

Human Molecular Genetics

Brain DevelopmentGeneticsCytoskeletonCell CycleCell Cycle Alterations +15

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies

Rebecca Ryan, Marion Failler, Madeline Louise Reilly, +12

Human Molecular Genetics

Motile CiliaGeneticsPathologyMolecular GeneticsDisease Gene Identification +19

KIF14 controls ciliogenesis via regulation of Aurora A and is important for Hedgehog signaling

Petra Pejšková, Madeline Louise Reilly, Lucia Binó, +6

The Journal of Cell Biology

Signal TransductionDevelopmental BiologyCell DivisionAurora ASignaling Pathway +12

Spatiotemporally regulated proteolysis to dissect the role of vegetative proteins during <i>Bacillus subtilis</i> sporulation: cell‐specific requirement of σ^H and σ^A

Eammon P. Riley, Aude Trinquier, Madeline Louise Reilly, +4

Molecular Microbiology

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction

Mara Cavallin, Amandine Béry, Camille Maillard, +6

European Journal of Medical Genetics

Recurrent Rttn MutationMendelian DisorderDisease MechanismGenetic DisorderGenetics +9

Predictors of language proficiency in school-age Spanish–English bilingual children with and without developmental language disorder

Kerry Danahy Ebert, Madeline Louise Reilly

Bilingualism Language and Cognition