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American Journal of Human Genetics|May 29, 2012
RAD21 mutations cause a human cohesinopathyMatthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, et al.Science Translational Medicine|November 16, 2022
Visualization of exhaled breath metabolites reveals distinct diagnostic signatures for acute cardiorespiratory breathlessnessWadah Ibrahim, Michael J Wilde, Rebecca L Cordell, et al.Nature Food|May 2, 2023
A natural mutation in Pisum sativum L. (pea) alters starch assembly and improves glucose homeostasis in humansKaterina Petropoulou, Louise J Salt, Cathrina H Edwards, et al.Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|August 15, 2018
The repeatability of cognitive performance: a meta-analysisM Cauchoix, P K Y Chow, J O van Horik, et al.Seminars in Hematology|December 6, 2001
Use of recombinant factor VIIa (NovoSeven) in patients with Glanzmann thrombastheniaM C Poon, R d'Oiron, I Hann, et al.Respiratory Medicine|August 5, 2026
The impact of benralizumab and dupilumab on exhaled volatile organic compound profiles of severe asthma patients - a preliminary analysisS M Vassileva, S Shahbazi Khamas, N Dyhre-Petersen, et al.Nature|August 14, 2012
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycleMatthew A Deardorff, Masashige Bando, Ryuichiro Nakato, et al.Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.Pageof 37