Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency

by Eckenweiler, M., Grünert, S.C, Spiekerkoetter, U.
Published 2022

Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies

by Akesson, L.S, Amarasekera, S., Bordador, E., Brown, N.J, Chai, C., Chong, B., Christodoulou, J., Compton, A.G, Donoghue, S., Guo, Y., Hakonarson, H., Lee, C., Lunke, S., Marum, J., Monaco, A., Rius, R., Rosenbaum, J., Stark, Z., Stormon, M., Thorburn, D.R
Published 2022

Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations

by Behnam, B., Moarefian, S., Rahmanifar, A., Zaman, T., Zamani, M.
Published 2022

PCSK9 Plasma Levels Are Associated with Mechanical Vascular Impairment in Familial Hypercholesterolemia Subjects without a History of Atherosclerotic Cardiovascular Disease: Result...

by Cinquegrani, M., Di Pino, A., Ferrara, V., Gullo, A.L, Imbalzano, E., Mandraffino, G., Morace, C., Piro, S., Purrello, F., Scicali, R., Scuruchi, M., Squadrito, G., Toscano, A.
Published 2022

Dynamic assessing silica particle-induced pulmonary fibrosis and associated regulation of long non-coding RNA expression in Wistar rats

by Jia, Q., Peng, C., Qi, X., Sai, L., Yu, G., Zhang, J., Zheng, Y.
Published 2021

Transcriptome and epigenome analysis of engram cells: Next-generation sequencing technologies in memory research

by Alaiz-Noya, M., Barco, A., Fuentes-Ramos, M.
Published 2021

Mobilizing sorghum genetic diversity: Biochemical and histological-assisted design of a stem ideotype for biomethane production

by Alcouffe, J., Baptiste, C., Bastianelli, D., Berger, A., Bonnal, L., Calatayud, C., Carrère, H., Chauvergne, C., Jaffuel, S., Jeanson, P., Latrille, E., Pot, D., Rossard, V., Thomas, H.L, Trouche, G., Verdeil, J.-L
Published 2021

CAZymes from the thermophilic fungus Thermoascus aurantiacus are induced by C5 and C6 sugars

by Fleissner, A., Floerl, L., Gabriel, R., Harth, S., Hopson, C., Mueller, R., Schuerg, T., Singer, S.W
Published 2021

MdFRK2-mediated sugar metabolism accelerates cellulose accumulation in apple and poplar

by Li, M., Ma, B., Ma, F., Su, J., Yang, J., Yang, N., Zhang, C., Zhu, L.
Published 2021

High-dose rapamycin exerts a temporary impact on T. reesei RUT-C30 through gene trFKBP12

by Hu, X., Lin, F., Lu, Z., Pang, A.-P, Wang, H., Wang, W., Wu, F.-G, Zhang, F., Zhou, Z.
Published 2021

Development of genic-SSR markers and their application in revealing genetic diversity and population structure in an Eastern and North-Eastern Indian collection of Jack (Artocarpus...

by Bhadana, V.P, Bhati, J., Bhushan Choudhary, S., Bishnoi, S.K, Kumar, M., Kumar, S., Mallick, M.A, Mishra, D.C, Pandey, A., Pattanayak, A., Sharma, T.R, Singh, B.K, Singh, D.K, Tomar, J.B, Tribhuvan, K.U
Published 2021

Ciliates (Alveolata, Ciliophora) as bioindicators of environmental pressure: A karstic river case

by Čanjevac, I., Gligora Udovič, M., Gulin, V., Kajan, K., Kulaš, A., Lentendu, G., Martinić, I., Matoničkin Kepčija, R., Orlić, S., Sertić Perić, M., Stoeck, T., Žutinić, P.
Published 2021

Genome-scale CRISPR screens identify host factors that promote human coronavirus infection

by Bluhm, A.P, Grodzki, M., Karst, S.M, Norris, M.H, Rafiee, R., Russo, M., Schaefer, M., Sobh, A., Tagmount, A., Vulpe, C.D
Published 2022

What can genetics tell us about the schizophrenia construct?

by Smoller, J.W
Published 2022

Subtype-specific and co-occurring genetic alterations in B-cell non-Hodgkin lymphoma

by Akhter, A., Bhalla, K., Bouska, A., Buckley, S., Carey, C., Chen, B.J, Davidson, M., Davis, R.E, Deng, Q., Fowler, N.H, Gandhi, M., Ghosh, S., Green, M.R, Greiner, T., Hartert, K., Heavican, T., Iqbal, J., Jain, N., Lunning, M.A, Ma, M.C.J, Mansoor, A., Moore, D., Nastoupil, L.J, Neelapu, S., Parekh, S., Perumal, D., Rodig, S.J, Showell, J., Sohani, A.R, Stewart, D., Street, L., Tadros, S., Tobin, J., Vose, J.M, Westin, J.R, Yang, H.
Published 2022

Australian Parkinson's Genetics Study (APGS): Pilot (n=1532)

by Bivol, S., Campos, A.I, Cross, S., Ferguson, M., Garcia-Marin, L.M, Gratten, J., Lind, P.A, Loesch, D.Z, Martin, N.G, Medland, S.E, Mellick, G.D, Mitchell, B.L, Mosley, P.E, Mulcahy, A., Parker, R., Poortvliet, P.C, Rentería, M.E, Scherzer, C.R, Visscher, P.M
Published 2022

Natural Killer Cell Receptors and Ligands Are Associated With Markers of HIV-1 Persistence in Chronically Infected ART Suppressed Patients

by Bendall, S.C, Blish, C.A, Bosch, R.J, Carrington, M., Cyktor, J.C, Eron, J., Gandhi, R.T, Holmes, S., Ivison, G.T, Jones, R.B, Martin, M.P, Martínez-Colón, G.J, McMahon, D.K, Mellors, J.W, Ranganath, T., The ACTG 5321 Team, Vendrame, E., Vergara, R., Zhao, N.Q
Published 2022

Neonatal Diabetes Due to a Mutation in the Distal PTF1A Enhancer: A Case Report and Literature Review

by Amirhakimi, A., Haghighi, A., Ilkhanipoor, H., Mirrashidi, F.S, Moravej, H.
Published 2022

Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy

by Allington, G., Choi, J., Fu, P.-Y, Jin, S.C, Kahle, K.T, Khanfar, M., Lu, Q., Mekbib, K.Y, Ocken, J., Shohfi, J., Smith, H., Wang, Y.-C, Wrubel, M., Wu, Y., Yang, K., Yu, X., Zhao, S.
Published 2022

Bayesian Optimization Approaches for Identifying the Best Genotype from a Candidate Population

by Liao, C.-T, Shen, C.-C, Tsai, S.-F
Published 2021