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Augusta M. A. Lachmeijer

VU University Amsterdam

26

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De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

2019
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NIPT‐based screening for Down syndrome and beyond: what do pregnant women think?

2015 Prenatal Diagnosis
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Etiology and pathogenesis of robin sequence in a large Dutch cohort

2015 American Journal of Medical Genetics Part A
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Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

2014 European Journal of Human Genetics
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HELLP babies link a novel lincRNA to the trophoblast cell cycle

2012 Journal of Clinical Investigation
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Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

2011 Clinical Genetics
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Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

2011 American Journal of Medical Genetics Part A
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Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

2010 Prenatal Diagnosis
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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

2010 European Journal of Human Genetics
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CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis (vol 17, pg 1560, 2009)

2009 European Journal of Human Genetics
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