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Items: 1 to 50 of 249

1.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R; Undiagnosed Diseases Network, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT.

J Genet Couns. 2019 Dec;28(6):1107-1118. doi: 10.1002/jgc4.1161. Epub 2019 Sep 3.

PMID:
31478310
2.

Simulation of biopsy bevel-tipped needle insertion into soft-gel.

Jushiddi MG, Mulvihill JJE, Chovan D, Mani A, Shanahan C, Silien C, Md Tofail SA, Tiernan P.

Comput Biol Med. 2019 Aug;111:103337. doi: 10.1016/j.compbiomed.2019.103337. Epub 2019 Jun 22.

PMID:
31279981
3.

Statement on bioinformatics and capturing the benefits of genome sequencing for society.

Capps B, Chadwick R, Joly Y, Lysaght T, Mills C, Mulvihill JJ, Zwart H.

Hum Genomics. 2019 May 29;13(1):24. doi: 10.1186/s40246-019-0208-4.

4.

Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network.

Silverman EK, Allard P, Loscalzo J, Mulvihill JJ, Korrick SA; Undiagnosed Diseases Network.

Am J Med Genet A. 2019 Jun;179(6):958-965. doi: 10.1002/ajmg.a.61132. Epub 2019 Mar 23.

PMID:
30903737
5.

Standardization of research methods employed in assessing the interaction between metallic-based nanoparticles and the blood-brain barrier: Present and future perspectives.

Ross AM, Mc Nulty D, O'Dwyer C, Grabrucker AM, Cronin P, Mulvihill JJE.

J Control Release. 2019 Feb 28;296:202-224. doi: 10.1016/j.jconrel.2019.01.022. Epub 2019 Jan 18. Review.

PMID:
30664977
6.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network.

N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.

7.

Digital and Mechanical Characterization of Ureteral Stent Luminal Reduction in Response to Extrinsic Compression Forces.

Davis NF, Mulvihill JJE, Lynch JJ, Browne E, Bolton DM, Jack GS, Walsh MT.

J Endourol. 2018 Dec;32(12):1148-1153. doi: 10.1089/end.2018.0573. Epub 2018 Oct 23.

PMID:
30221548
8.

Regional mechanical and biochemical properties of the porcine cortical meninges.

Walsh DR, Ross AM, Malijauskaite S, Flanagan BD, Newport DT, McGourty KD, Mulvihill JJE.

Acta Biomater. 2018 Oct 15;80:237-246. doi: 10.1016/j.actbio.2018.09.004. Epub 2018 Sep 9.

PMID:
30208332
9.

The Role of Stem Cells for Reconstructing the Lower Urinary Tracts.

Davis NF, Cunnane EM, Mulvihill JJ, Quinlan MR, Bolton DM, Walsh MT, Jack GS.

Curr Stem Cell Res Ther. 2018;13(6):458-465. doi: 10.2174/1574888X13666180426113907. Review.

PMID:
29697030
10.

Zinc Binding to S100B Affords Regulation of Trace Metal Homeostasis and Excitotoxicity in the Brain.

Hagmeyer S, Cristóvão JS, Mulvihill JJE, Boeckers TM, Gomes CM, Grabrucker AM.

Front Mol Neurosci. 2018 Jan 17;10:456. doi: 10.3389/fnmol.2017.00456. eCollection 2017.

11.

Biomaterials and Regenerative Medicine in Urology.

Davis NF, Cunnane EM, Quinlan MR, Mulvihill JJ, Lawrentschuk N, Bolton DM, Walsh MT.

Adv Exp Med Biol. 2018;1107:189-198. doi: 10.1007/5584_2017_139. Review.

PMID:
29340876
12.

Reduced plaque size and inflammation in the APP23 mouse model for Alzheimer's disease after chronic application of polymeric nanoparticles for CNS targeted zinc delivery.

Vilella A, Belletti D, Sauer AK, Hagmeyer S, Sarowar T, Masoni M, Stasiak N, Mulvihill JJE, Ruozi B, Forni F, Vandelli MA, Tosi G, Zoli M, Grabrucker AM.

J Trace Elem Med Biol. 2018 Sep;49:210-221. doi: 10.1016/j.jtemb.2017.12.006. Epub 2017 Dec 27.

PMID:
29325805
13.

Chromosomal Abnormalities in Offspring of Young Cancer Survivors: A Population-Based Cohort Study in Denmark.

Nielsen BF, Schmidt AA, Mulvihill JJ, Frederiksen K, Tawn EJ, Stovall M, Johansen C, Boice JD Jr, Winther JF.

J Natl Cancer Inst. 2018 May 1;110(5):534-538. doi: 10.1093/jnci/djx248.

PMID:
29228263
14.

Urinary Bladder vs Gastrointestinal Tissue: A Comparative Study of Their Biomechanical Properties for Urinary Tract Reconstruction.

Davis NF, Mulvihill JJE, Mulay S, Cunnane EM, Bolton DM, Walsh MT.

Urology. 2018 Mar;113:235-240. doi: 10.1016/j.urology.2017.11.028. Epub 2017 Nov 29.

PMID:
29197522
15.

Development of a Platform for Studying 3D Astrocyte Mechanobiology: Compression of Astrocytes in Collagen Gels.

Mulvihill JJE, Raykin J, Snider EJ, Schildmeyer LA, Zaman I, Platt MO, Kelly DJ, Ethier CR.

Ann Biomed Eng. 2018 Feb;46(2):365-374. doi: 10.1007/s10439-017-1967-5. Epub 2017 Nov 27.

PMID:
29181720
16.

Falling giants and the rise of gene editing: ethics, private interests and the public good.

Capps B, Chadwick R, Joly Y, Mulvihill JJ, Lysaght T, Zwart H.

Hum Genomics. 2017 Aug 29;11(1):20. doi: 10.1186/s40246-017-0116-4.

17.

Tissue engineered extracellular matrices (ECMs) in urology: Evolution and future directions.

Davis NF, Cunnane EM, O'Brien FJ, Mulvihill JJ, Walsh MT.

Surgeon. 2018 Feb;16(1):55-65. doi: 10.1016/j.surge.2017.07.002. Epub 2017 Aug 12. Review.

PMID:
28811169
18.

Research standardization tools: pregnancy measures in the PhenX Toolkit.

Malinowski AK, Ananth CV, Catalano P, Hines EP, Kirby RS, Klebanoff MA, Mulvihill JJ, Simhan H, Hamilton CM, Hendershot TP, Phillips MJ, Kilpatrick LA, Maiese DR, Ramos EM, Wright RJ, Dolan SM; PhenX Pregnancy Working Group.

Am J Obstet Gynecol. 2017 Sep;217(3):249-262. doi: 10.1016/j.ajog.2017.05.058. Epub 2017 May 31.

19.

Ethical issues of CRISPR technology and gene editing through the lens of solidarity.

Mulvihill JJ, Capps B, Joly Y, Lysaght T, Zwart HAE, Chadwick R; International Human Genome Organisation (HUGO) Committee of Ethics, Law, and Society (CELS).

Br Med Bull. 2017 Jun 1;122(1):17-29. doi: 10.1093/bmb/ldx002. Review.

PMID:
28334154
20.

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network, Wise AL.

Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.

21.

Recommendations for the integration of genomics into clinical practice.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID.

Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Review.

22.

Mechanical properties and composition of carotid and femoral atherosclerotic plaques: A comparative study.

Cunnane EM, Mulvihill JJE, Barrett HE, Hennessy MM, Kavanagh EG, Walsh MT.

J Biomech. 2016 Nov 7;49(15):3697-3704. doi: 10.1016/j.jbiomech.2016.09.036. Epub 2016 Oct 6.

PMID:
27776741
23.

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Gahl WA, Mulvihill JJ, Toro C, Markello TC, Wise AL, Ramoni RB, Adams DR, Tifft CJ; UDN.

Mol Genet Metab. 2016 Apr;117(4):393-400. doi: 10.1016/j.ymgme.2016.01.007. Epub 2016 Jan 22.

24.

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.

Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Gatti RA, Caporaso NE, Mulvihill JJ, Goldin LR, Pabst T, McMaster ML, Stewart DR.

Haematologica. 2016 Jul;101(7):846-52. doi: 10.3324/haematol.2015.130799. Epub 2015 Dec 31.

25.

A steroid metabolizing gene variant in a polyfactorial model improves risk prediction in a high incidence breast cancer population.

Jupe ER, Dalessandri KM, Mulvihill JJ, Miike R, Knowlton NS, Pugh TW, Zhao LP, DeFreese DC, Manjeshwar S, Gramling BA, Wiencke JK, Benz CC.

BBA Clin. 2014 Nov 8;2:94-102. doi: 10.1016/j.bbacli.2014.11.001. eCollection 2014 Dec.

26.

Simulation of human atherosclerotic femoral plaque tissue: the influence of plaque material model on numerical results.

Cunnane EM, Mulvihill JJ, Barrett HE, Walsh MT.

Biomed Eng Online. 2015;14 Suppl 1:S7. doi: 10.1186/1475-925X-14-S1-S7. Epub 2015 Jan 9.

27.

Characterising human atherosclerotic carotid plaque tissue composition and morphology using combined spectroscopic and imaging modalities.

Barrett HE, Mulvihill JJ, Cunnane EM, Walsh MT.

Biomed Eng Online. 2015;14 Suppl 1:S5. doi: 10.1186/1475-925X-14-S1-S5. Epub 2015 Jan 9.

28.

Determining the influence of calcification on the failure properties of abdominal aortic aneurysm (AAA) tissue.

O'Leary SA, Mulvihill JJ, Barrett HE, Kavanagh EG, Walsh MT, McGloughlin TM, Doyle BJ.

J Mech Behav Biomed Mater. 2015 Feb;42:154-67. doi: 10.1016/j.jmbbm.2014.11.005. Epub 2014 Nov 11.

PMID:
25482218
29.

Reporting genomic secondary findings: ACMG members weigh in.

Scheuner MT, Peredo J, Benkendorf J, Bowdish B, Feldman G, Fleisher L, Mulvihill JJ, Watson M, Herman GE, Evans J.

Genet Med. 2015 Jan;17(1):27-35. doi: 10.1038/gim.2014.165. Epub 2014 Nov 13.

PMID:
25394173
30.

Mechanical, biological and structural characterization of human atherosclerotic femoral plaque tissue.

Cunnane EM, Mulvihill JJ, Barrett HE, Healy DA, Kavanagh EG, Walsh SR, Walsh MT.

Acta Biomater. 2015 Jan;11:295-303. doi: 10.1016/j.actbio.2014.09.024. Epub 2014 Sep 19.

PMID:
25242646
31.

Uniaxial tensile testing approaches for characterisation of atherosclerotic plaques.

Walsh MT, Cunnane EM, Mulvihill JJ, Akyildiz AC, Gijsen FJ, Holzapfel GA.

J Biomech. 2014 Mar 3;47(4):793-804. doi: 10.1016/j.jbiomech.2014.01.017. Epub 2014 Jan 14. Review.

PMID:
24508324
32.

Computational approaches for analyzing the mechanics of atherosclerotic plaques: a review.

Holzapfel GA, Mulvihill JJ, Cunnane EM, Walsh MT.

J Biomech. 2014 Mar 3;47(4):859-69. doi: 10.1016/j.jbiomech.2014.01.011. Epub 2014 Jan 21. Review.

PMID:
24491496
33.

High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease.

Zhao W, Niu G, Shen B, Zheng Y, Gong F, Wang X, Lee J, Mulvihill JJ, Chen X, Li S.

Am J Med Genet A. 2013 Dec;161A(12):3087-94. doi: 10.1002/ajmg.a.36177. Epub 2013 Sep 24.

PMID:
24115576
34.

Mechanical, biological and structural characterization of in vitro ruptured human carotid plaque tissue.

Mulvihill JJ, Cunnane EM, McHugh SM, Kavanagh EG, Walsh SR, Walsh MT.

Acta Biomater. 2013 Nov;9(11):9027-35. doi: 10.1016/j.actbio.2013.07.012. Epub 2013 Jul 19.

PMID:
23871944
35.

Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines.

Kim YM, Lee JY, Xia L, Mulvihill JJ, Li S.

Mol Cytogenet. 2013 Jan 16;6(1):3. doi: 10.1186/1755-8166-6-3.

36.

Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

Saxena R, Saleheen D, Been LF, Garavito ML, Braun T, Bjonnes A, Young R, Ho WK, Rasheed A, Frossard P, Sim X, Hassanali N, Radha V, Chidambaram M, Liju S, Rees SD, Ng DP, Wong TY, Yamauchi T, Hara K, Tanaka Y, Hirose H, McCarthy MI, Morris AP; DIAGRAM; MuTHER; AGEN, Basit A, Barnett AH, Katulanda P, Matthews D, Mohan V, Wander GS, Singh JR, Mehra NK, Ralhan S, Kamboh MI, Mulvihill JJ, Maegawa H, Tobe K, Maeda S, Cho YS, Tai ES, Kelly MA, Chambers JC, Kooner JS, Kadowaki T, Deloukas P, Rader DJ, Danesh J, Sanghera DK.

Diabetes. 2013 May;62(5):1746-55. doi: 10.2337/db12-1077. Epub 2013 Jan 8.

37.

On the mechanical behaviour of carotid artery plaques: the influence of curve-fitting experimental data on numerical model results.

Mulvihill JJ, Walsh MT.

Biomech Model Mechanobiol. 2013 Oct;12(5):975-85. doi: 10.1007/s10237-012-0457-9. Epub 2012 Nov 29.

PMID:
23192833
38.

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

Wierenga KJ, Jiang Z, Yang AC, Mulvihill JJ, Tsinoremas NF.

Genet Med. 2013 May;15(5):354-60. doi: 10.1038/gim.2012.136. Epub 2012 Oct 25.

39.

Harnessing genomics to identify environmental determinants of heritable disease.

Yauk CL, Lucas Argueso J, Auerbach SS, Awadalla P, Davis SR, Demarini DM, Douglas GR, Dubrova YE, Elespuru RK, Glover TW, Hales BF, Hurles ME, Klein CB, Lupski JR, Manchester DK, Marchetti F, Montpetit A, Mulvihill JJ, Robaire B, Robbins WA, Rouleau GA, Shaughnessy DT, Somers CM, Taylor JG 6th, Trasler J, Waters MD, Wilson TE, Witt KL, Bishop JB.

Mutat Res. 2013 Jan-Mar;752(1):6-9. doi: 10.1016/j.mrrev.2012.08.002. Epub 2012 Aug 28.

40.

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM.

Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005.

41.

Cancer chemotherapeutic agents as human teratogens.

Selig BP, Furr JR, Huey RW, Moran C, Alluri VN, Medders GR, Mumm CD, Hallford HG, Mulvihill JJ.

Birth Defects Res A Clin Mol Teratol. 2012 Aug;94(8):626-50. doi: 10.1002/bdra.23063. Epub 2012 Jul 31. Review.

PMID:
22851372
42.

Preconception exposure to mutagens: medical and other exposures to radiation and chemicals.

Mulvihill JJ.

J Community Genet. 2012 Jul;3(3):205-11. doi: 10.1007/s12687-012-0104-2. Epub 2012 Jul 3.

43.

Congenital anomalies in the children of cancer survivors: a report from the childhood cancer survivor study.

Signorello LB, Mulvihill JJ, Green DM, Munro HM, Stovall M, Weathers RE, Mertens AC, Whitton JA, Robison LL, Boice JD Jr.

J Clin Oncol. 2012 Jan 20;30(3):239-45. doi: 10.1200/JCO.2011.37.2938. Epub 2011 Dec 12.

44.

Genetic disease in the children of Danish survivors of childhood and adolescent cancer.

Winther JF, Olsen JH, Wu H, Shyr Y, Mulvihill JJ, Stovall M, Nielsen A, Schmiegelow M, Boice JD Jr.

J Clin Oncol. 2012 Jan 1;30(1):27-33. doi: 10.1200/JCO.2011.35.0504. Epub 2011 Nov 28.

45.

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.

Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, Li S, Lee JY.

Am J Med Genet A. 2011 Jun;155A(6):1374-8. doi: 10.1002/ajmg.a.33769. Epub 2011 May 12.

PMID:
21567906
46.

A low frequency variant within the GWAS locus of MTNR1B affects fasting glucose concentrations: genetic risk is modulated by obesity.

Been LF, Hatfield JL, Shankar A, Aston CE, Ralhan S, Wander GS, Mehra NK, Singh JR, Mulvihill JJ, Sanghera DK.

Nutr Metab Cardiovasc Dis. 2012 Nov;22(11):944-51. doi: 10.1016/j.numecd.2011.01.006. Epub 2011 May 10.

47.

Hospitalizations among children of survivors of childhood and adolescent cancer: a population-based cohort study.

Winther JF, Boice JD Jr, Christensen J, Frederiksen K, Mulvihill JJ, Stovall M, Olsen JH.

Int J Cancer. 2010 Dec 15;127(12):2879-87. doi: 10.1002/ijc.25286.

48.

Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: a study of 3,310 subjects from India and the US.

Been LF, Ralhan S, Wander GS, Mehra NK, Singh J, Mulvihill JJ, Aston CE, Sanghera DK.

BMC Med Genet. 2011 Jan 24;12:18. doi: 10.1186/1471-2350-12-18.

49.

Automated identification of abnormal metaphase chromosome cells for the detection of chronic myeloid leukemia using microscopic images.

Wang X, Zheng B, Li S, Mulvihill JJ, Chen X, Liu H.

J Biomed Opt. 2010 Jul-Aug;15(4):046026. doi: 10.1117/1.3476336.

50.

Stillbirth and neonatal death in relation to radiation exposure before conception: a retrospective cohort study.

Signorello LB, Mulvihill JJ, Green DM, Munro HM, Stovall M, Weathers RE, Mertens AC, Whitton JA, Robison LL, Boice JD Jr.

Lancet. 2010 Aug 21;376(9741):624-30. doi: 10.1016/S0140-6736(10)60752-0. Epub 2010 Jul 23.

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