Nichols Lab

Moran, EE; Bressman, SB; Ortega, RA; Raymond, D; Nichols, WC; Palmese, CA; Elango, S; Swan, M; Shanker, V; Perera, I; et al. Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers. Frontiers in Neurology. 2021; 12.

Badlam, JB; Badesch, DB; Austin, ED; Benza, RL; Chung, WK; Farber, HW; Feldkircher, K; Frost, AE; Poms, AD; Lutz, KA; et al. United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics. Chest. 2021; 159:311-327.

Swietlik, EM; Greene, D; Zhu, N; Megy, K; Cogliano, M; Rajaram, S; Pandya, D; Tilly, T; Lutz, KA; Welch, CC L; et al. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Circulation: Genomic and Precision Medicine. 2020.

Griffiths, M; Yang, J; Nies, M; Vaidya, D; Brandal, S; Williams, M; Matsui, EC; Grant, T; Damico, R; Ivy, D; et al. Pediatric pulmonary hypertension: insulin-like growth factor-binding protein 2 is a novel marker associated with disease severity and survival. Pediatric Research. 2020; 88:850-856.

Yang, J; Griffiths, M; Nies, MK; Brandal, S; Damico, R; Vaidya, D; Tao, X; Simpson, CE; Kolb, TM; Mathai, SC; et al. Insulin-like growth factor binding protein-2: a new circulating indicator of pulmonary arterial hypertension severity and survival. BMC Medicine. 2020; 18.

Rhodes, CJ; Otero-Nunez, P; Wharton, J; Swietlik, EM; Kariotis, S; Harbaum, L; Dunning, MJ; Elinoff, JM; Errington, N; Thompson, AA R; et al. Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome. American Journal of Respiratory and Critical Care Medicine. 2020; 202:586-594.

Chen, JY; Griffiths, M; Yang, J; Nies, MK; Damico, RL; Simpson, CE; Vaidya, RD; Brandal, S; Ivy, DD; Austin, ED; et al. Elevated Interleukin-6 Levels Predict Clinical Worsening in Pediatric Pulmonary Arterial Hypertension. Journal of Pediatrics. 2020; 223:164-169.e1.

Oriaku, I; LeSieur, MN; Nichols, WC; Barrios, R; Elliott, CG; Frost, A. A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. Pulmonary Circulation. 2020; 10.

Potus, F; Pauciulo, MW; Cook, EK; Zhu, N; Hsieh, A; Welch, CL; Shen, Y; Tian, L; Lima, P; Mewburn, J; et al. Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension. Circulation. 2020; 141:1986-2000.

Karnes, JH; Wiener, H; Wiener, HW; Schwantes-An, T; Natarajan, B; Sweatt, AJ; Chaturvedi, A; Arora, AH; Arora, A; Batai, K; et al. Genetic Admixture and Survival in Diverse Populations with Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine. 2020; 201:1407-1415.

Simpson, CE; Damico, RL; Hassoun, PM; Martin, LJ; Yang, J; Nies, MK; Vaidya, RD; Brandal, S; Pauciulo, MW; Austin, ED; et al. Noninvasive Prognostic Biomarkers for Left-Sided Heart Failure as Predictors of Survival in Pulmonary Arterial Hypertension. Chest. 2020; 157:1606-1616.

Simpson, CE; Chen, JY; Damico, RL; Hassoun, PM; Martin, LJ; Yang, J; Nies, M; Griffiths, M; Vaidya, RD; Brandal, S; et al. Cellular sources of interleukin-6 and associations with clinical phenotypes and outcomes in pulmonary arterial hypertension. European Respiratory Journal, Supplement. 2020; 55.

Ulrich, A; Wharton, J; Thayer, TE; Swietlik, EM; Assad, TR; Desai, AA; Graf, S; Harbaum, L; Humbert, M; Morrell, NW; et al. Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension. European Respiratory Journal, Supplement. 2020; 55.

Wang, Y; Pandey, RN; York, AJ; Mallela, J; Nichols, WC; Hu, Y; Molkentin, JD; Wikenheiser-Brokamp, KA; Hegde, RS. The EYA3 tyrosine phosphatase activity promotes pulmonary vascular remodeling in pulmonary arterial hypertension. Nature Communications. 2019; 10.

Zhu, N; Pauciulo, MW; Welch, CL; Lutz, KA; Coleman, AW; Gonzaga-Jauregui, C; Wang, J; Grimes, JM; Martin, LJ; He, H; et al. Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome Medicine. 2019; 11.

Galambos, C; Mullen, MP; Shieh, JT; Schwerk, N; Kielt, MJ; Ullmann, N; Boldrini, R; Stucin-Gantar, I; Haass, C; Bansal, M; et al. Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension. European Respiratory Journal, Supplement. 2019; 54.

Elliott, CG; Austin, ED; Badesch, D; Badlam, J; Benza, RL; Chung, WK; Farber, HW; Feldkircher, K; Frost, AE; Poms, AD; et al. United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. Pulmonary Circulation. 2019; 9.

Rhodes, CJ; Batai, K; Bleda, M; Haimel, M; Southgate, L; Germain, M; Pauciulo, MW; Hadinnapola, C; Aman, J; Girerd, B; et al. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. The Lancet Respiratory Medicine. 2019; 7:227-238.

Morrell, NW; Aldred, MA; Chung, WK; Elliott, CG; Nichols, WC; Soubrier, F; Trembath, RC; Loyd, JE. Genetics and genomics of pulmonary arterial hypertension. European Respiratory Journal, Supplement. 2019; 53.

Ikeda, KT; Hale, PT; Pauciulo, MW; Dasgupta, N; Pastura, PA; Le Cras, TD; Pandey, MK; Nichols, WC. Hypoxia-induced Pulmonary Hypertension in Different Mouse Strains: Relation to Transcriptome. American Journal of Respiratory Cell and Molecular Biology. 2019; 60:106-116.

Zhu, N; Welch, CL; Wang, J; Allen, PM; Gonzaga-Jauregui, C; Ma, L; King, AK; Krishnan, U; Rosenzweig, EB; Ivy, DD; et al. Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. Genome Medicine. 2018; 10.

Alcalay, RN; Wolf, P; Levy, OA; Kang, UJ; Waters, C; Fahn, S; Ford, B; Kuo, SH; Vanegas, N; Shah, H; et al. Alpha galactosidase A activity in Parkinson's disease. Neurobiology of Disease. 2018; 112:85-90.

Zhu, N; Gonzaga-Jauregui, C; Welch, CL; Ma, L; Qi, H; King, AK; Krishnan, U; Rosenzweig, EB; Ivy, DD; Austin, ED; et al. Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Circulation: Genomic and Precision Medicine. 2018; 11.

Farber, H; Badlam, J; Frost, A; Benza, R; Austin, E; Badesch, D; Chung, W; Poms, A; Feldkircher, K; Yu, C; et al. (497) The United States Pulmonary Hypertension Scientific Registry (USPHSR): Objectives and Preliminary Data. Journal of Heart Transplantation. 2018; 37.

Wolf, P; Alcalay, RN; Liong, C; Cullen, E; Pauciulo, MW; Nichols, WC; Gan-Or, Z; Chung, WK; Faulkner, T; Bentis, C; et al. Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay. Molecular Genetics and Metabolism. 2018; 123:135-139.

Al-Naamani, N; Paulus, JK; Roberts, KE; Pauciulo, MW; Lutz, K; Nichols, WC; Kawut, SM. Racial and ethnic differences in pulmonary arterial hypertension. Pulmonary Circulation. 2017; 7:793-796.

Sklerov, M; Kang, UJ; Liong, C; Clark, L; Marder, K; Pauciulo, M; Nichols, WC; Chung, WK; Honig, LS; Cortes, E; et al. Frequency of GBA variants in autopsy-proven multiple system atrophy. Movement Disorders Clinical Practice. 2017; 4:574-581.

Newman, JH; Rich, S; Abman, SH; Alexander, JH; Barnard, J; Beck, GJ; Benza, RL; Bull, TM; Chan, SY; Chun, HJ; et al. Enhancing Insights into Pulmonary Vascular Disease through a Precision Medicine Approach. A Joint NHLBI-Cardiovascular Medical Research and Education Fund Workshop Report. American Journal of Respiratory and Critical Care Medicine. 2017; 195:1661-1670.

Jacher, JE; Martin, LJ; Chung, WK; Loyd, JE; Nichols, WC. Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA. Pulmonary Circulation. 2017; 7:372-383.