Astrid Oudakker

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel et al. · The American Journal of Human Genetics · 2006 · 396 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Anika H.D.M. Dam, Isabelle Koscinski, Jan A.M. Kremer et al. · The American Journal of Human Genetics · 2007 · 295 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker et al. · European Journal of Human Genetics · 2008 · 148 citations · Full text

Life Sciences, Molecular Genetics, Molecular Medicine +9

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

Monica Frega, Katrin Linda, Jason M. Keller et al. · Nature Communications · 2019 · 140 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra et al. · Human Mutation · 2007 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10