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Cacha M. P. C. D. Peeters-Scholte

Leiden University

17

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349

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Prenatal exome sequencing: a useful tool for the fetal neurologist.

2021 Clinical Genetics
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

2021 American Journal of Human Genetics
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

2021
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Author response for "Prenatal exome sequencing: a useful tool for the fetal neurologist"

2021
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Cranial Ultrasound Is an Important Tool in the Recognition of Life-Threatening Infratentorial Hemorrhage in Newborns

2020 Neuropediatrics
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First-in-Human study of the Safety, Tolerability, Pharmacokinetics and - Preliminary Dynamics of Neuroprotectant 2-Iminobiotin in Healthy Subjects

2019 Current Clinical Pharmacology
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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

2019 Genetics in Medicine
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Correction to: Putting genome-wide sequencing in neonates into perspective : (Genetics in Medicine, (2018), 10.1038/s41436-018-0293-0)

2018 Genetics in Medicine
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PATIENTS AFFECTED BY MOSAIC PCDH19 MUTATIONS : 5 NEW CASES

2017
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Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

2016 Clinical Case Reports
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Citations (12)