Tjitske Kleefstra - Genetic Mutations

Author Information

Tjitske Kleefstra is affiliated with the Department of Clinical Genetics at Erasmus MC in Rotterdam, the Netherlands, the Department of Human Genetics at Radboud University Medical Center in Nijmegen, the Netherlands, and the Center of Excellence for Neuropsychiatry at the Vincent van Gogh Institute for Psychiatry in Venray, the Netherlands.

Research Contributions

Tjitske Kleefstra has made significant contributions to the field of genetics, particularly focusing on neurodevelopmental disorders. Her recent work has explored inherited variants in CHD3, expanding the genotype and phenotype spectrum of neurodevelopmental disorders associated with genes like SYT1 and TCF7L2. Additionally, she has investigated the role of the gut microbiota in Kleefstra syndrome and the impact of rare genetic disorders on family functioning. Her research also includes studying neuronal networks and their applications in understanding genotype-phenotype correlations, as well as the implications of loss-of-function variants in genes related to schizophrenia.

Aliases

Tjitske Kleefstra is also known by the following aliases: T Kleefstra, T. Kleefstra, and Tjitske Kleefstra.

Publication and Citation Metrics

Citation Count	15,113
H-index	66
Paper Count	322

Publications:

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

DOI: 10.1016/j.gim.2022.02.014

Year: 2022

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.

DOI: 10.1016/j.gim.2021.12.002

Year: 2022

The role of the gut microbiota in patients with Kleefstra syndrome

DOI: 10.1101/2022.02.04.478662

Year: 2022

Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders

DOI: 10.3390/genes13020390

Year: 2022

Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro

DOI: 10.1101/2021.01.20.427439

Year: 2021

Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2‐associated syndrome

DOI: 10.1111/gbb.12761

Year: 2021

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

DOI: 10.1002/ajmg.a.62254

Year: 2021

Clinical delineation of SETBP1 haploinsufficiency disorder.

DOI: 10.1038/s41431-021-00888-9

Year: 2021

The Impact of Rare Genetic Disorders on Family Functioning

DOI: 10.18103/mra.v9i11.2598

Year: 2021

Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through cAMP/PKA pathway

DOI: 10.1101/2021.05.25.445613

Year: 2021

What is the Future of Genetic Approaches in Cancer Treatment?

What are PARP Inhibitors?

What are the Implications for Carriers?

How are Neutral Mutations Detected?

Can Neutral Mutations Become Beneficial or Harmful?

How Do Genetic Mutations Contribute to Heart Disease?

How are Genetic Mutations Detected?

What is Sickle Cell Trait?

Can Transversions Be Repaired?

Why Study Genetic Mutations?

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