Kristen L. Sund

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo et al. · Nature Genetics · 2015 · 200 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +7

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Ingo Helbig, Tania López-Hernández, Oded Shor et al. · The American Journal of Human Genetics · 2019 · 129 citations · Full text

Epileptic Encephalopathy, Signal Transduction, Developmental Biology +10

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Kristen L. Sund, Sarah Zimmerman, Cameron Thomas et al. · Genetics in Medicine · 2012 · 90 citations · Full text

Genome-wide Association Study, Genetic Analysis, Genetic Testing +10

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

K. Nicole Weaver, Kristin E. Noack Watt, Robert B. Hufnagel et al. · The American Journal of Human Genetics · 2015 · 85 citations · Full text

Cincinnati Type, Rare Diseases, Limb Anomalies +8

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

Andrew DiStasio, Ashley M. Driver, Kristen L. Sund et al. · Human Molecular Genetics · 2017 · 62 citations · Full text