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Publications

A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.

Stamou M, Ng SY, Brand H, et al. A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator. J Clin Endocrinol Metab. 2020;105(3). doi:10.1210/clinem/dgz011

ReQTL: identifying correlations between expressed SNVs and gene expression using RNA-sequencing data.

Spurr LF, Alomran N, Bousounis P, et al. ReQTL: identifying correlations between expressed SNVs and gene expression using RNA-sequencing data. Bioinformatics. 2020;36(5):1351-1359. doi:10.1093/bioinformatics/btz750

Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression.

Glanville KP, Coleman JRI, Hanscombe KB, et al. Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression. Biol Psychiatry. 2020;87(5):419-430. doi:10.1016/j.biopsych.2019.06.031

Severe neurodevelopmental disease caused by a homozygous TLK2 variant.

Topf A, Oktay Y, Balaraju S, et al. Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet. 2020;28(3):383-387. doi:10.1038/s41431-019-0519-x

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.

Wang H, Dong Z, Zhang R, et al. Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. Genet Med. 2020;22(3):500-510. doi:10.1038/s41436-019-0634-7

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, et al. Clinical presentation and proteomic signature of patients with TANGO2 mutations. J Inherit Metab Dis. 2020;43(2):297-308. doi:10.1002/jimd.12156

Long-term Risk of Colorectal Cancer After Removal of Conventional Adenomas and Serrated Polyps.

He X, Hang D, Wu K, et al. Long-term Risk of Colorectal Cancer After Removal of Conventional Adenomas and Serrated Polyps. Gastroenterology. 2020;158(4):852-861.e4. doi:10.1053/j.gastro.2019.06.039

Increased mitochondrial apoptotic priming with targeted therapy predicts clinical response to re-induction chemotherapy.

Garcia JS, Bhatt S, Fell G, et al. Increased mitochondrial apoptotic priming with targeted therapy predicts clinical response to re-induction chemotherapy. Am J Hematol. 2020;95(3):245-250. doi:10.1002/ajh.25692

Prevalence and mutational determinants of high tumor mutation burden in breast cancer.

Barroso-Sousa R, Jain E, Cohen O, et al. Prevalence and mutational determinants of high tumor mutation burden in breast cancer. Ann Oncol. 2020;31(3):387-394. doi:10.1016/j.annonc.2019.11.010

Cytochrome P450 oxidoreductase contributes to phospholipid peroxidation in ferroptosis.

Zou Y, Li H, Graham ET, et al. Cytochrome P450 oxidoreductase contributes to phospholipid peroxidation in ferroptosis. Nat Chem Biol. 2020;16(3):302-309. doi:10.1038/s41589-020-0472-6