Kristen Lipscomb Sund

Kristen Lipscomb Sund

Cincinnati Children's Hospital Medical Center - Cincinnati / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4618778
person_outline Kristen Lipscomb Sund's MOST POPULAR ARTICLES
1-) Diagnosis and management of adult congenital heart disease e-bookMA Gatzoulis, GD Webb, PEF DaubeneyElsevier Health Sciences, 2010359*2010
2-) Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ...Nature genetics 47 (8), 926-932, 20151722015
3-) A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathyI Helbig, T Lopez-Hernandez, O Shor, P Galer, S Ganesan, M Pendziwiat, ...The American Journal of Human Genetics 104 (6), 1060-1072, 2019972019
4-) Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationshipsKL Sund, SL Zimmerman, C Thomas, AL Mitchell, CE Prada, L Grote, ...Genetics in Medicine 15 (1), 70-78, 20131012013
5-) Acrofacial dysostosis, Cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunctionKN Weaver, KEN Watt, RB Hufnagel, JN Acedo, LL Linscott, KL Sund, ...The American Journal of Human Genetics 96 (5), 765-774, 2015792015