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Dan Serber

As seen in: The American Journal of Human Genetics
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Articles by Dan Serber

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

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By Mireia Coll-Tané, Theresa Brunet, Benjamin Cogné, Mathilde Nizon, Francesco Nicita, Lorena Travaglini, Antonio Novelli, Amanda Peterson, Jillian G. Buchan, Kolja Meier, Jutta Gärtner, Susann Diegmann, Véronique Pingault, Tania Attié-Bitach, Thomas Courtin, Michael Schneider, Lauren O’Grady, Katharina Steindl, Sarju G. Mehta, Christel Depienne, Boris Keren, Solveig Heide, Shane McKee, Franco Laccone, Lisa Dyer, Wendy Jones, Divya Vats, Christiane Zweier, Heinrich Sticht, Anne Gregor, Rebecca Fluri, Solene Conrad, Margie Glissmeyer, Dan Serber, Inderneel Sahai, Catherine Melver, Connie Motter, Zoey Trueblood Wilson, Kristina Huß
| The American Journal of Human Genetics Verified
Keywords neurodevelopmental disorder Drosophila melanogaster rare disease disease gene discovery Introduction LIM domain binding gene 1 (LDB1; also known as NLI and CLIM2) (MIM: 603451) encodes a ubiquitously expressed co-regulator of transcription.1 Studies in mice have shown its importance in neurogenesis, including development of the fore-,1 mid- and hindbrain.2 Additionally, it plays an essential role in the differentiation of corticospinal motoneurons and interneurons,3 axon guidance,4...
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