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Elife|October 11, 2024
Cell-cell interaction determines cell fate of mesoderm-derived cell in tongue development through Hh signalingMaiko Kawasaki, Katsushige Kawasaki, Finsa Tisna Sari, et al.
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.
La Radiologia Medica|March 21, 2025
Role of radiomics in predicting early disease recurrence in locally advanced breast cancer patients: integration of radiomic features and RECIST criteriaCharlotte Trombadori, Edda Boccia, Elena Huong Tran, et al.
Nature Communications|November 7, 2024
An explainable longitudinal multi-modal fusion model for predicting neoadjuvant therapy response in women with breast cancerYuan Gao, Sofia Ventura-Diaz, Xin Wang, 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.
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