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Respirology Case Reports|October 31, 2024
Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile ciliaKim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, et al.Elife|April 24, 2020
R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitorsValerie Pi Vidal, Fariba Jian-Motamedi, Samah Rekima, et al.Clinical Genetics|March 1, 2020
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygoteAriana Kariminejad, Siavash Ghaderi-Sohi, Elham Keshavarz, et al.Journal of Human Genetics|July 10, 2024
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 proteinBoudour Khabou, Umar Bin Mohamad Sahari, Abir Ben Issa, et al.Developmental Cell|June 9, 2022
R-SPONDIN2+ mesenchymal cells form the bud tip progenitor niche during human lung developmentRenee F C Hein, Joshua H Wu, Emily M Holloway, et al.American Journal of Human Genetics|November 26, 2019
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary HypoplasiaAriana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, et al.EMBO Molecular Medicine|January 18, 2023
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencingNasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, et al.Human Molecular Genetics|October 10, 2023
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafishChristopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, et al.Nature|July 7, 2018
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6Emmanuelle Szenker-Ravi, Umut Altunoglu, Marc Leushacke, et al.Nature|May 18, 2018
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6Emmanuelle Szenker-Ravi, Umut Altunoglu, Marc Leushacke, et al.Pageof 2