Publications

For a complete list of publications, see here.

    2023

  • Clonal haematopoiesis of indeterminate potential predicts incident cardiac arrhythmias. Schuermans A, Vlasschaert C, Nauffal V, et al. Eur Heart J (2023). doi.org/10.1093/eurheartj/ehad670

  • SRCAP mutations drive clonal hematopoiesis through epigenetic and DNA repair dysregulation. Chen CW, Zhang L, Dutta R, et al. Cell Stem Cell (2023). doi.org/10.1016/j.stem.2023.09.011

  • Functional and molecular profiling of hematopoietic stem cells during regeneration. Rydström A, Grahn THM, Niroula A, et al. Exp Hematol (2023). doi.org/10.1016/j.exphem.2023.08.010

  • Genetic modification of inflammation-and clonal hematopoiesis–associated cardiovascular risk. Yu Z, Fidler TP, Ruan Y, et al. J Clin Invest (2023). doi.org/10.1172/JCI168597

  • Birth Weight Is Associated With Clonal Hematopoiesis of Indeterminate Potential and Cardiovascular Outcomes in Adulthood. Schuermans A, Nakao T, Ruan Y, et al. J Am Heart Assoc (2023). doi.org/10.1161/JAHA.123.030220

  • Obesity-induced inflammation exacerbates clonal hematopoiesis. Pasupuleti SK, Ramdas B, Burns SS, et al. J Clin Invest (2023). doi.org/10.1172/JCI163968

  • Clonal hematopoiesis of indeterminate potential predicts adverse outcomes in patients with atherosclerotic cardiovascular disease. Gumuser ED, Schuermans A, Cho SMJ, et al. J Am Coll Cardiol (2023). doi.org/10.1016/j.jacc.2023.03.401

  • A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets. Vlasschaert C, Mack T, Heimlich JB, et al. Blood (2023). doi.org/10.1182/blood.2022018825

  • Prediction of risk for myeloid malignancy in clonal hematopoiesis. Weeks LD, Niroula A, Neuberg D, et al. NEJM Evid (2023). doi.org/10.1056/evidoa2200310

  • Clonal haematopoiesis and risk of chronic liver disease. Wong WJ, Emdin C, Bick AG, et al. Nature (2023). doi.org/10.1038/s41586-023-05857-4

  • HLA Class I Genotype Is Associated with Relapse Risk after Allogeneic Stem Cell Transplantation for NPM1-Mutated Acute Myeloid Leukemia. Narayan R, Niroula A, Wang T, et al. Transplant Cell Ther (2023). 10.1016/j.jtct.2023.03.027

  • Clonal hematopoiesis and risk of incident lung cancer. Tian R, Wiley B, Liu J, et al. J Clin Oncol (2023). doi.org/10.1200/JCO.22.00857

  • TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease. Zekavat SM, Viana-Huete V, Matesanz N, et al. Nat Cardiovasc Res (2023). doi.org/10.1038/s44161-022-00206-6

    • 2022

  • TET2-mutant clonal hematopoiesis and risk of gout. Agrawal M, Niroula A, Cunin P, et al. Blood (2022). doi.org/10.1182/blood.2022015384.

  • Genetics of smoking and risk of clonal hematopoiesis. Levin MG, Nakao T, Zekavat SM, et al. Sci Rep (2022). doi.org/10.1038/s41598-022-09604-z.

  • Clonal Hematopoiesis and CKD Progression. Niroula A, Belizaire R. J Am Soc Nephrol (2022). doi.org/10.1681/ASN.2022030262.

  • Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential. Nakao T, Bick AG, Taub MA, et al. Sci Adv (2022). doi.org/10.1126/sciadv.abl6579.

  • Genome-wide association study on 13,167 individuals identifies regulators of hematopoietic stem and progenitor cell levels in human blood. Lopez de Lapuente Portilla A, Ekdahl L, Cafaro C, et al. Blood (2022). doi.org/10.1182/blood.2021013220.

  • Functional dissection of inherited non-coding variation influencing multiple myeloma risk. Ajore R, Niroula A, Pertesi M, et al. Nat Comms (2022). doi.org/10.1038/s41467-021-27666-x.

  • Association of clonal hematopoiesis with chronic obstructive pulmonary disease. Miller PG, Qiao D, Rojas-Quintero J, et al. Blood (2022). doi.org/10.1182/blood.2021013531.

  • Clonal hematopoiesis is associated with higher risk of stroke. Bhattacharya R, Zekavat SM, Haessler J, et al. Stroke (2022). doi.org/10.1161/STROKEAHA.121.037388.

    • 2021

  • Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis. Kim PG, Niroula A, Shkolnik V, et al. J Exp Med (2021). doi.org/10.1084/jem.20211872.

  • Distinction of lymphoid and myeloid clonal hematopoiesis. Niroula A, Sekar A, Murakami MA, et al. Nat Med (2021). doi.org/10.1038/s41591-021-01521-4

  • ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing. Beauchamp EM, Leventhal M, Bernard E, et al. Blood Cancer Discov (2021). doi.org/10.1158/2643-3230.BCD-20-0224.

  • Association of clonal hematopoiesis with incident heart failure. Yu B, Roberrts MB, Raffield LM, et al. J Am Coll Cardiol (2021). doi.org/10.1016/j.jacc.2021.04.085.

  • Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology. Shakur R, Ochoa JP, Robinson AJ, et al. NPJ Genom Med (2021). doi.org/10.1038/s41525-021-00204-w.

  • Association of diet quality with prevalence of clonal hematopoiesis and adverse cardiovascular events. Bhattacharya R, Zekavat SM, Uddin MM, et al. JAMA Cardiol (2021). doi.org/10.1001/jamacardio.2021.1678.

  • Germline variants at SOHLH2 influence multiple myeloma risk. Duran-Lozano L, Thorleifsson G, Lopez de Lapuente Portilla A, et al. Blood Cancer J (2021). doi.org/10.1038/s41408-021-00468-6.

  • Accelerating target deconvolution for therapeutic antibody candidates using highly parallelized genome editing. Mattssson J, Ekdahl L, unghus F, et al. Nat Commun (2021). doi.org/10.1038/s41467-021-21518-4.

  • Premature menopause, clonal hematopoiesis, and coronary artery disease in postmenopausal women. Honigberg MC, Zekavat SM, Niroula A, et al. Circulation (2021). doi.org/10.1161/CIRCULATIONAHA.120.051775.

    • 2020

  • Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Bick AG, Weinstock JS, Nandakumar SK. Nature (2020). doi.org/10.1038/s41586-020-2819-2.

  • S100A6 is a critical regulator of hematopoietic stem cells. Grahn THM, Niroula A, Végvári Á, et al. Leukemia (2020). doi.org/10.1038/s41375-020-0901-2.

  • Identification of germline variants in adults with hemophagocytic lymphohistiocytosis. Miller PG, Niroula A, Ceremsak JJ, et al. Blood Adv (2020). doi.org/10.1182/bloodadvances.2019001272.

    • 2019

  • ProTstab - predictor for cellular protein stability. Yang Y, Ding X, Zhu G, et al. BMC Genomics (2019). doi.org/10.1186/s12864-019-6138-7.

  • MPRAscore: robust and non-parametric analysis of massively parallel reporter assays. Ajore R, Niroula A, Nilsson B. Bioinformatics (2019). doi.org/10.1093/bioinformatics/btz591.

  • How good are pathogenicity predictors in detecting benign variants?. Niroula A, Vihinen M. PLoS Comput Biol (2019). doi.org/10.1371/journal.pcbi.1006481.

    • 2018

  • The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression. Ali M, Ajore R, Wihlborg AK, et al. Nat Commun (2018). doi.org/10.1038/s41467-018-04082-2.

  • PON-tstab: Protein variant stability predictor. Importance of training data quality. Yang Y, Urolagin S, Niroula A, et al. Int J Mol Sci (2018). doi.org/10.3390/ijms19041009.

    • 2017

  • Direct evidence for a polygenic etiology in familial multiple myeloma. Halvarsson BM, Wihlborg AK, Ali M, et al. Blood Adv (2017). doi.org/10.1182/bloodadvances.2016003111.

  • Working towards precision medicine: predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges. Daneshjou R, Wang Y, Bromberg, Y, et al. Hum Mutat (2017). doi.org/10.1002/humu.23280.

  • Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI. Carraro M, Minervini G, Giollo M, et al. Hum Mutat (2017). doi.org/10.1002/humu.23235.

  • PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned. Niroula A, Vihinen M. Hum Mutat (2017). doi.org/10.1002/humu.23199.

  • Predicting severity of disease‐causing variants. Niroula A, Vihinen M. Hum Mutat (2017). doi.org/10.1002/humu.23173.

    • 2016

  • PON-Sol: prediction of effects of amino acid substitutions on protein solubility. Yang Y, Niroula A, Shen B, et al. Bioinformatics (2016). doi.org/10.1093/bioinformatics/btw066.

  • Variation interpretation predictors: principles, types, performance, and choice. Niroula A, Vihinen M. Hum Mutat (2016). doi.org/10.1002/humu.22987.

  • PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations. Niroula A, Vihinen M. Nucleic Acids Res (2016). doi.org/10.1093/nar/gkw046.

    • 2015

  • Classification of amino acid substitutions in mismatch repair proteins using PON‐MMR2. Niroula A, Vihinen M. Hum Mutat (2015). doi.org/10.1002/humu.22900.

  • Harmful somatic amino acid substitutions affect key pathways in cancers. Niroula A, Vihinen M. BMC Medical Genomics (2015). doi.org/10.1186/s12920-015-0125-x.

  • PON-P2: prediction method for fast and reliable identification of harmful variants. Niroula A, Urolagin S, Vihinen M. PloS one (2015). doi.org/10.1371/journal.pone.0117380.