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Human Genetics|May 25, 2011
A mutation screen in patients with Kabuki syndromeYun Li, Nina Bögershausen, Yasemin Alanay, et al.
Genome Research|January 13, 2016
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and miceMalte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, et al.
Brain : a Journal of Neurology|March 12, 2014
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthoodJoanne Ng, Juan Zhen, Esther Meyer, et al.
Molecular Psychiatry|April 7, 2020
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3ccMateusz C Ambrozkiewicz, Ekaterina Borisova, Manuela Schwark, et al.
Genome Research|January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Gastroenterology|September 16, 2017
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal CancerFernando Bellido, Nadine Sowada, Pilar Mur, et al.
Human Genetics|April 15, 2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactylyIrfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, et al.
Molecular Cell|October 16, 2012
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiationGuntram Borck, Byung-Sik Shin, Barbara Stiller, et al.
American Journal of Human Genetics|October 23, 2012
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing lossSimon von Ameln, Geng Wang, Redouane Boulouiz, et al.
Cancer Research|July 26, 2015
KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung CancerLaia Simó-Riudalbas, Montserrat Pérez-Salvia, Fernando Setien, et al.
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