Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

by Ethiraj Ravindran, Ethiraj Ravindran, Ethiraj Ravindran, Gaetan Lesca, Gaetan Lesca, Louis Januel, Linus Goldgruber, Achim Dickmanns, Henri Margot, Angela M. Kaindl, Angela M. Kaindl, Angela M. Kaindl
Published 2023-02-01

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

by Ethiraj Ravindran, Ethiraj Ravindran, Ethiraj Ravindran, Noor Ullah, Noor Ullah, Shyamala Mani, Shyamala Mani, Shyamala Mani, Elaine Guo Yan Chew, Elaine Guo Yan Chew, Moses Tandiono, Moses Tandiono, Jia Nee Foo, Jia Nee Foo, Chiea Chuen Khor, Chiea Chuen Khor, Angela M. Kaindl, Angela M. Kaindl, Angela M. Kaindl, Saima Siddiqi
Published 2022-10-01

Novel Alternative Splice Variants of Mouse Cdk5rap2.

by Nadine Kraemer, Lina Issa-Jahns, Gerda Neubert, Ethiraj Ravindran, Shyamala Mani, Olaf Ninnemann, Angela M Kaindl
Published 2015-01-01

Monoallelic CRMP1 gene variants cause neurodevelopmental disorder

by Ethiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker, Kohtaro Takizawa, Jonathan Lévy, Thomas Rambaud, Konstantin L Makridis, Yoshio Goshima, Na Li, Maaike Vreeburg, Bénédicte Demeer, Achim Dickmanns, Alexander PA Stegmann, Hao Hu, Fumio Nakamura, Angela M Kaindl
Published 2022-12-01

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

by Ethiraj Ravindran, Hao Hu, Scott A Yuzwa, Luis R Hernandez-Miranda, Nadine Kraemer, Olaf Ninnemann, Luciana Musante, Eugen Boltshauser, Detlev Schindler, Angela Hübner, Hans-Christian Reinecker, Hans-Hilger Ropers, Carmen Birchmeier, Freda D Miller, Thomas F Wienker, Christoph Hübner, Angela M Kaindl
Published 2017-04-01

Arhgef2 regulates neural differentiation in the cerebral cortex through mRNA m6A-methylation of Npdc1 and Cend1

by Pei Zhou, Yifei Qi, Xiang Fang, Miaomiao Yang, Shuxin Zheng, Caihua Liao, Fengying Qin, Lili Liu, Hong Li, Yan Li, Ethiraj Ravindran, Chuanbo Sun, Xinshu Wei, Wen Wang, Liang Fang, Dingding Han, Changgeng Peng, Wei Chen, Na Li, Angela M. Kaindl, Hao Hu
Published 2021-06-01