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Project

Unraveling the role of MYT1L in intellectual disability: an integrated functional genetic approach

Information

Project Team

Outputs and Outcomes

Publications

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Maria del Rocio Pérez BacaEva JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockSadegheh HaghshenasAidin ForoutanMichael A LevyJennifer KerkhofHaley McConkeyChun-An ChenNurit Assia BatzirXia WangMaría PalomaresMarieke CarelsBart DermautBekim SadikovicBjörn MentenBo YuanSarah VergultBert CallewaertZFHX3 consortiumOlivier Vanakker et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2024

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

Kiana MohajeriRachita YadavEva D'haenePhilip M. BooneSerkan ErdinDadi GaoMariana Moyses-OliveiraRiya BhavsarBenjamin B. CurrallKathryn O'KeefeNicholas D. BurtChelsea LowtherDiane LucenteMonica SalaniMathew LarsonClaire RedinOlga DudchenkoErez Lieberman AidenBjörn MentenDerek J.C. TaiJames F. GusellaSarah VergultMichael E. Talkowski et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2022

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

Naama HirschIdit DahanEva D'haeneMatan AvniSarah VergultMarta Vidal-GarcíaPamela MaginiClaudio GrazianoElena BonoraAnna Maria NardoneFrancesco BrancatiAlberto Fernández-JaénOlson J. RoryBenedikt HallgrimssonRamon Y Birnbaum et al.

A1 Journal Article in GENOME RESEARCH

2022