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Hans-Kristian Ploos van Amstel

Utrecht University

43

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Author response for "Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation"

2021
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The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects

2019 American Journal of Hematology
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Mortality Risk Associated With Truncating Founder Mutations in Titin

2019
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Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report

2019 Molecular Genetics & Genomic Medicine
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Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura

2018 Pediatric Blood & Cancer
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A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing

2018 European Journal of Medical Genetics
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Genetic obesity: next-generation sequencing results of 1230 patients with obesity

2018 Journal of Medical Genetics
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Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

2017 American Journal of Human Genetics
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Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

2016 American Journal of Medical Genetics Part A
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Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

2014 Nature Biotechnology
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Citations (155)