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Thomas F. Wienker

University of Bonn
Max Planck Society
University of Freiburg

273

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12164

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An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

2020 European Journal of Medical Genetics
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Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family—The Role of Next Generation Sequencing in Neuromuscular Disorders

2019 Neuropediatrics
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Effect of inbreeding on intellectual disability revisited by trio sequencing

2019 Clinical Genetics
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VarWatch—A stand-alone software tool for variant matching

2019 PLOS ONE
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Genetics of intellectual disability in consanguineous families

2018 Molecular Psychiatry
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Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

2018 Human Molecular Genetics
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Author response for "Effect of inbreeding on intellectual disability revisited by Trio sequencing"

2018
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Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

2017 European Journal of Human Genetics
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Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

2017 Human Mutation
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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

2017 PLOS Genetics
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Citations (19)