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  Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders

Aksoy, I., Utami, K. H., Winata, C. L., Hillmer, A. M., Rouam, S. L., Briault, S., et al. (2017). Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders. HUMAN MOLECULAR GENETICS, 26(2), 367-382. doi:10.1093/hmg/ddw393.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0004-5182-D Version Permalink: https://hdl.handle.net/21.11116/0000-0004-5183-C
Genre: Journal Article

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 Creators:
Aksoy, Irene, Author
Utami, Kagistia H., Author
Winata, Cecilia L.1, Author           
Hillmer, Axel M., Author
Rouam, Sigrid L., Author
Briault, Sylvain, Author
Davila, Sonia, Author
Stanton, Lawrence W., Author
Cacheux, Valere, Author
Affiliations:
1Cardiac Development and Remodeling, Max Planck Institute for Heart and Lung Research, Max Planck Society, ou_2591698              

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Free keywords: BALANCED CHROMOSOME REARRANGEMENTS; PLURIPOTENT STEM-CELLS; COPY NUMBER VARIATION; STRUCTURAL VARIATION; DEVELOPMENTAL DELAY; TIMOTHY SYNDROME; ZEBRAFISH; CANCER; SCHIZOPHRENIA; MARKER
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 Dates: 2017
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: ISI: 000397066400011
DOI: 10.1093/hmg/ddw393
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Title: HUMAN MOLECULAR GENETICS
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 26 (2) Sequence Number: - Start / End Page: 367 - 382 Identifier: ISSN: 0964-6906