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Plos Genetics|November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signalingRonit Marom, Bo Zhang, Megan E Washington, et al.
Genome Medicine|November 2, 2016
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, et al.
Science (New York, N.Y.)|August 6, 2021
A noncoding RNA modulator potentiates phenylalanine metabolism in miceYajuan Li, Zhi Tan, Yaohua Zhang, et al.
The Journal of Clinical Investigation|January 10, 2015
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypesBo Yuan, Davut Pehlivan, Ender Karaca, et al.
American Journal of Human Genetics|August 16, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2019
Insights into genetics, human biology and disease gleaned from family based genomic studiesJennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, et al.
American Journal of Human Genetics|December 26, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeJanson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, et al.
European Journal of Human Genetics : EJHG|May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.
Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
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