Sarah Vergult

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

The need for transparency and good practices in the qPCR literature

Stephen A. Bustin, Vladimı́r Beneš, Jeremy A. Garson et al. · Nature Methods · 2013 · 290 citations

Good Practices, Quality Assurance, Qpcr Literature +4

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 212 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

Wigard P. Kloosterman, Masoumeh Tavakoli‐Yaraki, Markus J. van Roosmalen et al. · Cell Reports · 2012 · 193 citations · Full text

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio et al. · The American Journal of Human Genetics · 2013 · 185 citations · Full text

Exonic Deletions, Developmental Biology, Molecular Neuroscience +7