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Nature Communications|December 20, 2024
Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screeningAnand Ramani, Giovanni Pasquini, Niklas J Gerkau, et al.
Human Mutation|December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotypeGökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
American Journal of Human Genetics|April 13, 2010
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromeYun Li, Barbara Pawlik, Nursel Elcioglu, et al.
Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.
American Journal of Human Genetics|October 23, 2012
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing lossSimon von Ameln, Geng Wang, Redouane Boulouiz, et al.
JCI Insight|March 25, 2025
SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisisNina Bögershausen, Büsranur Cavdarli, Taylor H Nagai, et al.
Journal of Medical Genetics|October 17, 2018
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndromeStefano Paolacci, Yun Li, Emanuele Agolini, et al.
The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.
Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndromeMuhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, et al.
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