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Acta Neuropathologica|July 4, 2013
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular basesHoma Adle-Biassette, Pascale Saugier-Veber, Catherine Fallet-Bianco, et al.Brain : a Journal of Neurology|February 11, 2012
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathiesLouise Devisme, Céline Bouchet, Marie Gonzalès, et al.Cancer Cell|December 9, 2008
Hepatic stem-like phenotype and interplay of Wnt/beta-catenin and Myc signaling in aggressive childhood liver cancerStefano Cairo, Carolina Armengol, Aurélien De Reyniès, et al.American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.Nature Genetics|July 21, 2022
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, et al.American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.Pageof 4