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Items: 1 to 20 of 279


MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE; UDN., Perrimon N, Liu Z, Bellen HJ.

Am J Hum Genet. 2017 May 3. pii: S0002-9297(17)30154-4. doi: 10.1016/j.ajhg.2017.04.010. [Epub ahead of print]


Enhancing Insights into Pulmonary Vascular Disease (PVD) Through a Precision Medicine Approach. A Joint NHLBI-CMREF Workshop Report.

Newman JH, Rich S, Abman SH, Alexander JH, Barnard J, Beck GJ, Benza RL, Bull TM, Chan SY, Chun HJ, Doogan D, Dupuis J, Erzurum SC, Frantz RP, Geraci M, Gillies H, Gladwin M, Gray MP, Hemnes AR, Herbst RS, Hernandez AF, Hill NS, Horn EM, Hunter K, Jing ZC, Johns R, Kaul S, Kawut SM, Lahm T, Leopold JA, Lewis GD, Mathai SC, McLaughlin VV, Michelakis ED, Nathan SD, Nichols W, Page G, Rabinovitch M, Rich J, Rischard F, Rounds S, Shah SJ, Tapson VF, Lowy N, Stockbridge N, Weinmann G, Xiao L.

Am J Respir Crit Care Med. 2017 Apr 21. doi: 10.1164/rccm.201701-0150WS. [Epub ahead of print]


A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.

Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH; Undiagnosed Diseases Network., Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V.

Orphanet J Rare Dis. 2017 Apr 17;12(1):71. doi: 10.1186/s13023-017-0623-3.


Response to Letter to the Editor on "Patient Reported Kneeling Ability in Fixed and Mobile Bearing Knee Arthroplasty".

Artz NJ, Hassaballa MA, Robinson JR, Newman JH, Porteous AJ, Murray JR.

J Arthroplasty. 2017 Jan 20. pii: S0883-5403(16)30933-0. doi: 10.1016/j.arth.2016.12.047. [Epub ahead of print] No abstract available.


End Tidal Carbon Dioxide as a Prognostic Feature in Pulmonary Arterial Hypertension.

Welch CE, Brittain EL, Newman AL, Robbins IM, Pugh ME, Newman JH, Hemnes AR.

Ann Am Thorac Soc. 2017 Mar 27. doi: 10.1513/AnnalsATS.201612-951OC. [Epub ahead of print]


A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network., Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MC.

Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.


Clinical and Biological Insights Into Combined Post- and Pre-Capillary Pulmonary Hypertension.

Assad TR, Hemnes AR, Larkin EK, Glazer AM, Xu M, Wells QS, Farber-Eger EH, Sheng Q, Shyr Y, Harrell FE, Newman JH, Brittain EL.

J Am Coll Cardiol. 2016 Dec 13;68(23):2525-2536. doi: 10.1016/j.jacc.2016.09.942.


Non-oncogenic Acute Viral Infections Disrupt Anti-cancer Responses and Lead to Accelerated Cancer-Specific Host Death.

Kohlhapp FJ, Huelsmann EJ, Lacek AT, Schenkel JM, Lusciks J, Broucek JR, Goldufsky JW, Hughes T, Zayas JP, Dolubizno H, Sowell RT, Kühner R, Burd S, Kubasiak JC, Nabatiyan A, Marshall S, Bommareddy PK, Li S, Newman JH, Monken CE, Shafikhani SH, Marzo AL, Guevara-Patino JA, Lasfar A, Thomas PG, Lattime EC, Kaufman HL, Zloza A.

Cell Rep. 2016 Oct 18;17(4):957-965. doi: 10.1016/j.celrep.2016.09.068.


De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network., Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29.


Hemodynamic evidence of vascular remodeling in combined post- and precapillary pulmonary hypertension.

Assad TR, Brittain EL, Wells QS, Farber-Eger EH, Halliday SJ, Doss LN, Xu M, Wang L, Harrell FE, Yu C, Robbins IM, Newman JH, Hemnes AR.

Pulm Circ. 2016 Sep;6(3):313-21. doi: 10.1086/688516.


Survivorship and clinical outcome of the minimally invasive Uniglide medial fixed bearing, all-polyethylene tibia, unicompartmental knee arthroplasty at a mean follow-up of 7.3years.

Forster-Horváth C, Artz N, Hassaballa MA, Robinson JR, Porteous AJ, Murray JR, Newman JH.

Knee. 2016 Dec;23(6):981-986. doi: 10.1016/j.knee.2016.07.003. Epub 2016 Aug 6.


The Journey patellofemoral joint arthroplasty: A minimum 5year follow-up study.

Ahearn N, Metcalfe AJ, Hassaballa MA, Porteous AJ, Robinson JR, Murray JR, Newman JH.

Knee. 2016 Oct;23(5):900-4. doi: 10.1016/j.knee.2016.03.004. Epub 2016 Apr 28.


Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.

Yang Y, Zhang L, Lynch DR, Lukas T, Ahmeti K, Sleiman PM, Ryan E, Schadt KA, Newman JH, Deng HX, Siddique N, Siddique T.

Neurol Genet. 2016 Mar 3;2(2):e60. doi: 10.1212/NXG.0000000000000060. eCollection 2016 Apr.


Mechanisms of Lipid Accumulation in the Bone Morphogenetic Protein Receptor Type 2 Mutant Right Ventricle.

Talati MH, Brittain EL, Fessel JP, Penner N, Atkinson J, Funke M, Grueter C, Jerome WG, Freeman M, Newman JH, West J, Hemnes AR.

Am J Respir Crit Care Med. 2016 Sep 15;194(6):719-28. doi: 10.1164/rccm.201507-1444OC.


Fatty Acid Metabolic Defects and Right Ventricular Lipotoxicity in Human Pulmonary Arterial Hypertension.

Brittain EL, Talati M, Fessel JP, Zhu H, Penner N, Calcutt MW, West JD, Funke M, Lewis GD, Gerszten RE, Hamid R, Pugh ME, Austin ED, Newman JH, Hemnes AR.

Circulation. 2016 May 17;133(20):1936-44. doi: 10.1161/CIRCULATIONAHA.115.019351. Epub 2016 Mar 22.


Critical Genomic Networks and Vasoreactive Variants in Idiopathic Pulmonary Arterial Hypertension.

Hemnes AR, Zhao M, West J, Newman JH, Rich S, Archer SL, Robbins IM, Blackwell TS, Cogan J, Loyd JE, Zhao Z, Gaskill C, Jetter C, Kropski JA, Majka SM, Austin ED.

Am J Respir Crit Care Med. 2016 Aug 15;194(4):464-75. doi: 10.1164/rccm.201508-1678OC.


Pollinator Competition as a Driver of Floral Divergence: An Experimental Test.

Temeles EJ, Newman JT, Newman JH, Cho SY, Mazzotta AR, Kress WJ.

PLoS One. 2016 Jan 27;11(1):e0146431. doi: 10.1371/journal.pone.0146431. eCollection 2016.


The Diastolic Pressure Gradient Does Not-and Should Not-Predict Outcomes.

Brittain EL, Assad TR, Hemnes AR, Newman JH.

JACC Heart Fail. 2015 Oct;3(10):845. doi: 10.1016/j.jchf.2015.06.008. No abstract available.


Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E.

Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Review.


Patient Reported Kneeling Ability in Fixed and Mobile Bearing Knee Arthroplasty.

Artz NJ, Hassaballa MA, Robinson JR, Newman JH, Porteous AJ, Murray JR.

J Arthroplasty. 2015 Dec;30(12):2159-63. doi: 10.1016/j.arth.2015.06.063. Epub 2015 Jul 2.


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