Daphne J. Smits

One fungus, which genes? Development and assessment of universal primers for potential secondary fungal DNA barcodes

J. Benjamin Stielow, C. André Lévesque, Keith A. Seifert et al. · Persoonia - Molecular Phylogeny and Evolution of Fungi · 2015 · 571 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore et al. · The American Journal of Human Genetics · 2019 · 85 citations · Full text

Life Sciences, Developmental Biology, Human Development +11

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

Jordy Dekker, Rachel Schot, Michiel Bongaerts et al. · The American Journal of Human Genetics · 2023 · 60 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +16

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

Laura Vandervore, Rachel Schot, Chiara Milanese et al. · The American Journal of Human Genetics · 2019 · 48 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +9

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Sébastien Küry, Frédéric Ebstein, Alice Mollé et al. · The American Journal of Human Genetics · 2022 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16