Myrthe van den Born

发表

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

N. Brown, S. Köhler, D. Horn, 2017, bioRxiv.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

M. Tuchman, Myrthe van den Born, J. Saris, 2018, Scientific Reports.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

A. Pagnamenta, R. Borgatti, H. Firth, 2018, Genetics in Medicine.

Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease

Myrthe van den Born, J. Roos‐Hesselink, J. Bekkers, 2021, International journal of molecular sciences.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

R. Hegde, Myrthe van den Born, A. Bertoli-Avella, 2019, Circulation. Genomic and precision medicine.

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Myrthe van den Born, S. Saunier, M. Knapen, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

A. Pagnamenta, R. Borgatti, H. Firth, 2018, Genetics in Medicine.

Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing.

L. Hoefsloot, Myrthe van den Born, R. van Marion, 2022, Reproductive Biomedicine Online.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Peter N. Robinson, N. Brown, S. Köhler, 2017, Genome Medicine.

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

M. Tuchman, Myrthe van den Born, J. Saris, 2018, Scientific Reports.

The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.

L. Hoefsloot, Myrthe van den Born, K. Stuurman, 2023, European journal of medical genetics.

Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Myrthe van den Born, M. V. van Slegtenhorst, J. H. von der Thüsen, 2018, Circulation. Genomic and precision medicine.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2023, Genetics in Medicine.