Madeline Louise Reilly

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

Laurence Heidet, Vincent Morinière, C. Henry et al. · Journal of the American Society of Nephrology · 2017 · 116 citations · Full text

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

Mara Cavallin, Maria A. Rujano, Nathalie Bednarek et al. · Brain · 2017 · 58 citations · Full text

Brain Development, Neurological Disorder, Genetics +24

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 et al. · Human Molecular Genetics · 2018 · 48 citations · Full text

Kif14 Mutations, Genetics, Organ Development +16

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

Loïc Broix, Laure Asselin, Carla G. Silva et al. · Human Molecular Genetics · 2017 · 41 citations · Full text

Brain Development, Genetics, Cytoskeleton +17

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 et al. · Human Molecular Genetics · 2017 · 41 citations · Full text

Motile Cilia, Genetics, Pathology +21