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Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
VanSickle EA, Michael J, Bachmann AS, Rajasekaran S, Prokop JW, Kuzniecky R, Hofstede FC, Steindl K, Rauch A, Lipson MH, Bupp CP. VanSickle EA, et al. Among authors: bachmann as. Am J Med Genet A. 2021 Nov;185(11):3485-3493. doi: 10.1002/ajmg.a.62473. Epub 2021 Sep 3. Am J Med Genet A. 2021. PMID: 34477286 Free PMC article.
Bachmann-Bupp syndrome (BABS) is a rare syndrome caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC coded by the ODC1 gene). ...Recommendations for medical management can now be suggested as well as the potential for targete …
Bachmann-Bupp syndrome (BABS) is a rare syndrome caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (OD …
Virus-induced genetics revealed by multidimensional precision medicine transcriptional workflow applicable to COVID-19.
Prokop JW, Shankar R, Gupta R, Leimanis ML, Nedveck D, Uhl K, Chen B, Hartog NL, Van Veen J, Sisco JS, Sirpilla O, Lydic T, Boville B, Hernandez A, Braunreiter C, Kuk CC, Singh V, Mills J, Wegener M, Adams M, Rhodes M, Bachmann AS, Pan W, Byrne-Steele ML, Smith DC, Depinet M, Brown BE, Eisenhower M, Han J, Haw M, Madura C, Sanfilippo DJ, Seaver LH, Bupp C, Rajasekaran S. Prokop JW, et al. Among authors: bachmann as. Physiol Genomics. 2020 Jun 1;52(6):255-268. doi: 10.1152/physiolgenomics.00045.2020. Epub 2020 May 21. Physiol Genomics. 2020. PMID: 32437232 Free PMC article.
Gene expression signatures identify paediatric patients with multiple organ dysfunction who require advanced life support in the intensive care unit.
Shankar R, Leimanis ML, Newbury PA, Liu K, Xing J, Nedveck D, Kort EJ, Prokop JW, Zhou G, Bachmann AS, Chen B, Rajasekaran S. Shankar R, et al. Among authors: bachmann as. EBioMedicine. 2020 Dec;62:103122. doi: 10.1016/j.ebiom.2020.103122. Epub 2020 Nov 25. EBioMedicine. 2020. PMID: 33248372 Free PMC article.
Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development.
Prokop JW, Bupp CP, Frisch A, Bilinovich SM, Campbell DB, Vogt D, Schultz CR, Uhl KL, VanSickle E, Rajasekaran S, Bachmann AS. Prokop JW, et al. Among authors: bachmann as. Genes (Basel). 2021 Mar 25;12(4):470. doi: 10.3390/genes12040470. Genes (Basel). 2021. PMID: 33806076 Free PMC article.
Balancing precision versus cohort transcriptomic analysis of acute and recovery phase of viral bronchiolitis.
Gupta R, Leimanis ML, Adams M, Bachmann AS, Uhl KL, Bupp CP, Hartog NL, Kort EJ, Olivero R, Comstock SS, Sanfilippo DJ, Lunt SY, Prokop JW, Rajasekaran S. Gupta R, et al. Among authors: bachmann as. Am J Physiol Lung Cell Mol Physiol. 2021 Jun 1;320(6):L1147-L1157. doi: 10.1152/ajplung.00440.2020. Epub 2021 Apr 14. Am J Physiol Lung Cell Mol Physiol. 2021. PMID: 33851876 Free PMC article.
Combined Plasma and Urinary Metabolomics Uncover Metabolic Perturbations Associated with Severe Respiratory Syncytial Viral Infection and Future Development of Asthma in Infant Patients.
Teoh ST, Leimanis-Laurens ML, Comstock SS, Winters JW, Vandenbosch NL, Prokop JW, Bachmann AS, Lunt SY, Rajasekaran S. Teoh ST, et al. Among authors: bachmann as. Metabolites. 2022 Feb 14;12(2):178. doi: 10.3390/metabo12020178. Metabolites. 2022. PMID: 35208252 Free PMC article.
81 results