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Gastroenterology|November 20, 2018
Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced ApoptosisElena V Polishchuk, Assunta Merolla, Josef Lichtmannegger, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndromeLaurens Hannes, Marta Atzori, Alice Goldenberg, et al.Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.Nature Genetics|July 7, 2014
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongationChristel Thauvin-Robinet, Jaclyn S Lee, Estelle Lopez, et al.Nature Genetics|May 10, 2016
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.Pageof 10