Laboratory Medicine and Pathology

Research Output

2020

A Case of Cystoisospora (Isospora) belli Infection With Multiple Life Stages Identified on Endoscopic Small Bowel Biopsies

Rowan, D. J., Said, S., Schuetz, A. N. & Pritt, B. S., Jan 1 2020, (Accepted/In press) In : International Journal of Surgical Pathology.

Research output: Contribution to journalArticle

Accelerated osteocyte senescence and skeletal fragility in mice with type 2 diabetes

Eckhardt, B. A., Rowsey, J. L., Thicke, B. S., Fraser, D. G., O'Grady, K. L., Bondar, O. P., Hines, J. M., Singh, R. J., Thoreson, A. R., Rakshit, K., Lagnado, A. B., Passos, J. F., Vella, A., Matveyenko, A. V., Khosla, S., Monroe, D. G. & Farr, J. N., May 7 2020, In : JCI Insight. 5, 9, e135236.

Research output: Contribution to journalArticle

Open Access

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

LaDuca, H., Polley, E. C., Yussuf, A., Hoang, L., Gutierrez, S., Hart, S. N., Yadav, S., Hu, C., Na, J., Goldgar, D. E., Fulk, K., Smith, L. P., Horton, C., Profato, J., Pesaran, T., Gau, C. L., Pronold, M., Davis, B. T., Chao, E. C., Couch, F. J. & 1 others, Dolinsky, J. S., Feb 1 2020, In : Genetics in Medicine. 22, 2, p. 407-415 9 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Alcohol use is not a significant contributor to myelodysplastic syndromes

Duffy, E. A., Nguyen, P. L., Cioc, A., Warlick, E., Roesler, M. A. & Poynter, J. N., Jun 1 2020, In : Cancer Causes and Control. 31, 6, p. 549-557 9 p.

Research output: Contribution to journalArticle

Amyloidosis in surgically resected atrial appendages: a study of 345 consecutive cases with clinical implications

Fayyaz, A. U., Bois, M. C., Dasari, S., Padmanabhan, D., Vrana, J. A., Stulak, J. M., Edwards, W. D., Kurtin, P. J., Asirvatham, S. J., Grogan, M. & Maleszewski, J. J., May 1 2020, In : Modern Pathology. 33, 5, p. 764-774 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

Analysis of DNA methylation in endometrial biopsies to predict risk of endometrial cancer

Multinu, F., Chen, J., Madison, J. D., Torres, M., Casarin, J., Visscher, D., Shridhar, V., Bakkum-Gamez, J., Sherman, M., Wentzensen, N., Mariani, A. & Walther-Antonio, M., Mar 2020, In : Gynecologic oncology. 156, 3, p. 682-688 7 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Analytical Evaluation of the Abbott RealTime CT/NG Assay for Detection of Chlamydia trachomatis and Neisseria gonorrhoeae in Rectal and Pharyngeal Swabs

Antibacterial Resistance Leadership Group, Jun 2020, In : Journal of Molecular Diagnostics. 22, 6, p. 811-816 6 p.

Research output: Contribution to journalArticle

Open Access

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Escala-Garcia, M., Abraham, J., Andrulis, I. L., Anton-Culver, H., Arndt, V., Ashworth, A., Auer, P. L., Auvinen, P., Beckmann, M. W., Beesley, J., Behrens, S., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Børresen-Dale, A. L., Brauch, H. & 125 others, Brenner, H., Brucker, S. Y., Burwinkel, B., Caldas, C., Canzian, F., Chang-Claude, J., Chanock, S. J., Chin, S. F., Clarke, C. L., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Daly, M. B., Dennis, J., Devilee, P., Dunn, J. A., Dunning, A. M., Dwek, M., Earl, H. M., Eccles, D. M., Eliassen, A. H., Ellberg, C., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Gago-Dominguez, M., Gapstur, S. M., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., George, A., Giles, G. G., Goldgar, D. E., González-Neira, A., Grip, M., Guénel, P., Guo, Q., Haiman, C. A., Håkansson, N., Hamann, U., Harrington, P. A., Hiller, L., Hooning, M. J., Hopper, J. L., Howell, A., Huang, C. S., Huang, G., Hunter, D. J., Jakubowska, A., John, E. M., Kaaks, R., Kapoor, P. M., Keeman, R., Kitahara, C. M., Koppert, L. B., Kraft, P., Kristensen, V. N., Lambrechts, D., Le Marchand, L., Lejbkowicz, F., Lindblom, A., Lubiński, J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M. E., Maurer, T., Mavroudis, D., Meindl, A., Milne, R. L., Mulligan, A. M., Neuhausen, S. L., Nevanlinna, H., Newman, W. G., Olshan, A. F., Olson, J. E., Olsson, H., Orr, N., Peterlongo, P., Petridis, C., Prentice, R. L., Presneau, N., Punie, K., Ramachandran, D., Rennert, G., Romero, A., Sachchithananthan, M., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Schwentner, L., Scott, C., Simard, J., Sohn, C., Southey, M. C., Swerdlow, A. J., Tamimi, R. M., Tapper, W. J., Teixeira, M. R., Terry, M. B., Thorne, H., Tollenaar, R. A. E. M., Tomlinson, I., Troester, M. A., Truong, T., Turnbull, C., Vachon, C. M., van der Kolk, L. E., Wang, Q., Winqvist, R., Wolk, A., Yang, X. R., Ziogas, A., Pharoah, P. D. P., Hall, P., Wessels, L. F. A., Chenevix-Trench, G., Bader, G. D., Dörk, T., Easton, D. F., Canisius, S. & Schmidt, M. K., Dec 1 2020, In : Nature communications. 11, 1, 312.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

An integrative histopathologic clustering model based on immuno-matrix elements to predict the risk of death in malignant mesothelioma

Balancin, M. L., Teodoro, W. R., Farhat, C., de Miranda, T. J., Assato, A. K., de Souza Silva, N. A., Velosa, A. P., Falzoni, R., Ab'Saber, A. M., Roden, A. C. & Capelozzi, V. L., Jan 1 2020, (Accepted/In press) In : Cancer medicine.

Research output: Contribution to journalArticle

Open Access

Anomalous papillary muscles—Implications in the surgical treatment of hypertrophic obstructive cardiomyopathy

Lentz Carvalho, J., Schaff, H. V., Morris, C. S., Nishimura, R. A., Ommen, S. R., Maleszewski, J. & Dearani, J., Jan 1 2020, (Accepted/In press) In : Journal of Thoracic and Cardiovascular Surgery.

Research output: Contribution to journalArticle

2 Scopus citations

An Open-Label Pilot Study of Adrenocorticotrophic Hormone in the Treatment of IgA Nephropathy at High Risk of Progression

Zand, L., Canetta, P., Lafayette, R., Aslam, N., Jan, N., Sethi, S. & Fervenza, F. C., Jan 2020, In : Kidney International Reports. 5, 1, p. 58-65 8 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability

Muthusamy, B., Bellad, A., Prasad, P., Bandari, A. K., Bhuvanalakshmi, G., Kiragasur, R. M., Girimaji, S. C. & Pandey, A., May 18 2020, In : Frontiers in Psychiatry. 11, 354.

Research output: Contribution to journalArticle

Open Access

A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome

Bellad, A., Bandari, A. K., Pandey, A., Girimaji, S. C. & Muthusamy, B., Jan 1 2020, (Accepted/In press) In : Journal of Molecular Neuroscience.

Research output: Contribution to journalArticle

Antithrombotic effects of heme-degrading and heme-binding proteins

Nath, K. A., Grande, J. P., Belcher, J. D., Garovic, V. D., Croatt, A. J., Hillestad, M. L., Barry, M. A., Nath, M. C., Regan, R. F. & Vercellotti, G. M., Mar 1 2020, In : American journal of physiology. Heart and circulatory physiology. 318, 3, p. H671-H681

Research output: Contribution to journalArticle

Open Access

Antitumor activity of Z-endoxifen in aromatase inhibitor-sensitive and aromatase inhibitor-resistant estrogen receptor-positive breast cancer

Jayaraman, S., Hou, X., Kuffel, M. J., Suman, V. J., Hoskin, T. L., Reinicke, K. E., Monroe, D. G., Kalari, K. R., Tang, X., Zeldenrust, M. A., Cheng, J., Bruinsma, E. S., Buhrow, S. A., McGovern, R. M., Safgren, S. L., Walden, C. A., Carter, J. M., Reid, J. M., Ingle, J. N., Ames, M. M. & 2 others, Hawse, J. R. & Goetz, M. P., May 19 2020, In : Breast Cancer Research. 22, 1, 51.

Research output: Contribution to journalArticle

Open Access

Application of a risk-management framework for integration of stromal tumor-infiltrating lymphocytes in clinical trials

International Immuno-Oncology Biomarker Working Group, Dec 1 2020, In : npj Breast Cancer. 6, 1, 15.

Research output: Contribution to journalReview article

Open Access
2 Scopus citations

A Recurrence Predictive Model for Thymic Tumors and Its Implication for Postoperative Management: a Chinese Alliance for Research in Thymomas Database Study

AME Thoracic Surgery Cooperative Group, Mar 2020, In : Journal of Thoracic Oncology. 15, 3, p. 448-456 9 p.

Research output: Contribution to journalArticle

ARGONAUT II study of the in vitro activity of plazomicin against carbapenemase-producing klebsiella pneumoniae

Jacobs, M. R., Good, C. E., Hujer, A. M., Abdelhamed, A. M., Rhoads, D. D., Hujer, K. M., Rudin, S. D., Domitrovic, T. N., Connolly, L. E., Krause, K. M., Patel, R., Arias, C. A., Kreiswirth, B. N., Rojas, L. J., D'Souza, R., White, R. C., Brinkac, L. M., Nguyen, K., Singh, I., Fouts, D. E. & 2 others, Van Duin, D. & Bonomo, R. A., May 2020, In : Antimicrobial Agents and Chemotherapy. 64, 5, e00012-20.

Research output: Contribution to journalArticle

Association between Tumor Necrosis Factor Inhibitor Exposure and Inflammatory Central Nervous System Events

Kunchok, A., Aksamit, A. J., Davis, J. M., Kantarci, O. H., Keegan, B. M., Pittock, S. J., Weinshenker, B. G. & McKeon, A., Jan 1 2020, (Accepted/In press) In : JAMA neurology. 1162.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittom, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J. & 239 others, Barkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldes, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., De La Hoya, M., Della Puppa, L., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadalo, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberan, V., Garre, P., Gauthier-Villars, M., Geczi, L., Gehrig, A., Gerdes, A. M., Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S. W., Kim, Z., Ko, K. P., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lazaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernandez, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Gomes, D. M., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Cilius Nielsen, F. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K. R., Osorio, A., Ott, C. E., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A. B., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., Van Asperen, C. J., Van Der Baan, F. H., Van Der Kolk, L. E., Van Der Luijt, R. B., Van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstrate, J., Villa, R., Von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S. Y., Zanzottera, C., Zorn, K. K., D’Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R. & Rebbeck, T. R., Feb 1 2020, In : Cancer research. 80, 3, p. 624-638 15 p.

Research output: Contribution to journalArticle

3 Scopus citations

Association of Maximal Extent of Resection of Contrast-Enhanced and Non-Contrast-Enhanced Tumor with Survival Within Molecular Subgroups of Patients with Newly Diagnosed Glioblastoma

Molinaro, A. M., Hervey-Jumper, S., Morshed, R. A., Young, J., Han, S. J., Chunduru, P., Zhang, Y., Phillips, J. J., Shai, A., Lafontaine, M., Crane, J., Chandra, A., Flanigan, P., Jahangiri, A., Cioffi, G., Ostrom, Q., Anderson, J. E., Badve, C., Barnholtz-Sloan, J., Sloan, A. E. & 21 others, Erickson, B. J., Decker, P. A., Kosel, M. L., Lachance, D., Eckel-Passow, J., Jenkins, R., Villanueva-Meyer, J., Rice, T., Wrensch, M., Wiencke, J. K., Oberheim Bush, N. A., Taylor, J., Butowski, N., Prados, M., Clarke, J., Chang, S., Chang, E., Aghi, M., Theodosopoulos, P., McDermott, M. & Berger, M. S., Apr 2020, In : JAMA Oncology. 6, 4, p. 495-503 9 p.

Research output: Contribution to journalArticle

5 Scopus citations

Autoimmune encephalitis management: MS centers and beyond

McKeon, A. & Zekeridou, A., Jan 1 2020, (Accepted/In press) In : Multiple Sclerosis Journal.

Research output: Contribution to journalReview article

Autoimmune psychosis

McKeon, A., Dubey, D., Flanagan, E., Pittock, S. & Zekeridou, A., Feb 2020, In : The Lancet Psychiatry. 7, 2, 1 p.

Research output: Contribution to journalLetter

Open Access

Autoimmune Vestibulocerebellar Syndromes

Narayan, R. N., McKeon, A. & Fife, T. D., Feb 1 2020, In : Seminars in Neurology. 40, 1, p. 97-115 19 p.

Research output: Contribution to journalArticle

Autologous Adipose Tissue–Derived Mesenchymal Stem Cells Introduced by Biliary Stents or Local Immersion in Porcine Bile Duct Anastomoses

Zhang, Y., Sharma, A., Joo, D. J., Nelson, E., AbuRmilah, A., Amiot, B. P., Boyer, C. J., Alexander, J. S., Jalan-Sakrikar, N., Martin, J., Moreira, R., Chowdhury, S. A., Smart, M., Dietz, A. B., Nyberg, S. L., Heimbach, J. K. & Huebert, R. C., Jan 1 2020, In : Liver Transplantation. 26, 1, p. 100-112 13 p.

Research output: Contribution to journalArticle

Automated sample preparation for nucleosome positioning analysis using droplet microfluidics

Xu, Y., Lee, J. H., Zhao, Y., Li, Z., Ordog, T. & Bailey, R. C., Jan 1 2020, 21st International Conference on Miniaturized Systems for Chemistry and Life Sciences, MicroTAS 2017. Chemical and Biological Microsystems Society, p. 213-214 2 p. (21st International Conference on Miniaturized Systems for Chemistry and Life Sciences, MicroTAS 2017).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Banff Digital Pathology Working Group: Going digital in transplant pathology

Farris, A. B., Moghe, I., Wu, S., Hogan, J., Cornell, L. D., Alexander, M. P., Kers, J., Demetris, A. J., Levenson, R. M., Tomaszewski, J., Barisoni, L., Yagi, Y. & Solez, K., Jan 1 2020, (Accepted/In press) In : American Journal of Transplantation.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Baseline estrogen levels in postmenopausal women participating in the MAP.3 breast cancer chemoprevention trial

MAP.3 Investigators, Jun 1 2020, In : Menopause (New York, N.Y.). 27, 6, p. 693-700 8 p.

Research output: Contribution to journalArticle

Best Practices Guideline for the Pathologic Diagnosis of Breast Implant-Associated Anaplastic Large-Cell Lymphoma

Jaffe, E. S., Ashar, B. S., Clemens, M. W., Feldman, A. L., Gaulard, P., Miranda, R. N., Sohani, A. R., Stenzel, T. & Yoon, S. W., Apr 1 2020, In : Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 38, 10, p. 1102-1111 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

Blood mass spectrometry detects residual disease better than standard techniques in light-chain amyloidosis

Dispenzieri, A., Arendt, B., Dasari, S., Kohlhagen, M., Kourelis, T., Kumar, S. K., Leung, N., Muchtar, E., Buadi, F. K., Warsame, R., Kyle, R. A., Lacy, M. Q., Dingli, D., Kapoor, P., Gonsalves, W. I., Go, R. S., Hayman, S. R., Hwa, Y. L., Fonder, A., Hobbs, M. & 7 others, Jevremovic, D., Lust, J. A., Zeldenrust, S., Russell, S. J., Rajkumar, S. V., Gertz, M. A. & Murray, D., Feb 1 2020, In : Blood cancer journal. 10, 2, 20.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Cancer risks associated with germline PALB2 pathogenic variants: An international study of 524 families

Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., Pooley, K., Dorling, L., Leei, A., Adank, M. A., Adlard, J., Aittomäki, K., Andrulis, I. L., Ang, P. & 99 others, Barwell, J., Bernstein, J. L., Bobolis, K., Borg, Å., Blomqvist, C., Claes, K. B. M., Concannon, P., Cuggia, A., Culver, J. O., Damiola, F., De Pauw, A., Diez, O., Dolinsky, J. S., Domchek, S. M., Engel, C., Evans, D. G., Fostira, F., Garber, J., Golmard, L., Goode, E. L., Gruber, S. B., Hahnen, E., Hake, C., Heikkinen, T., Hurley, J. E., Janavicius, R., Kleibl, Z., Kleiblova, P., Konstantopoulou, I., Kvist, A., Laduca, H., Lee, A. S. G., Lesueur, F., Maher, E. R., Mannermaa, A., Manoukian, S., McFarland, R., McKinnon, W., Meindl, A., Metcalfe, K., Taib, N. A. M., Moilanen, J., Nathanson, K. L., Neuhausen, S., Ng, P. S., Nguyen-Dumont, T., Nielsen, S. M., Obermair, F., Offit, K., Olopade, O. I., Ottini, L., Penkert, J., Pylkäs, K., Radice, P., Ramus, S. J., Rudaitis, V., Side, L., Silva-Smith, R., Silvestri, V., Skytte, A. B., Slavin, T., Soukupova, J., Tondini, C., Trainer, A. H., Unzeitig, G., Usha, L., Van Overeem Hansen, T., Whitworth, J., Wood, M., Yip, C. H., Yoon, S. Y., Yussuf, A., Zogopoulos, G., Goldgar, D., Hopper, J. L., Chenevix-Trench, G., Pharoah, P., George, S. H. L., Balmaña, J., Houdayer, C., James, P., El-Haffaf, Z., Ehrencrona, H., Janatova, M., Peterlongo, P., Nevanlinna, H., Schmutzler, R., Teo, S. H., Robson, M., Pal, T., Couch, F., Weitzel, J. N., Elliott, A., Southey, M., Winqvist, R., Easton, D. F., Foulkes, W. D., Antoniou, A. C. & Tischkowitz, M., Mar 1 2020, In : Journal of Clinical Oncology. 38, 7, p. 674-685 12 p.

Research output: Contribution to journalArticle

9 Scopus citations

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Dominguez-Valentin, M., Sampson, J. R., Seppälä, T. T., ten Broeke, S. W., Plazzer, J. P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H. & 68 others, Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Köstner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., Knebel Doeberitz, M. V., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvänäinen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sánchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rødland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Möslein, G., Mecklin, J. P., Nielsen, M. & Møller, P., Jan 1 2020, In : Genetics in Medicine. 22, 1, p. 15-25 11 p.

Research output: Contribution to journalArticle

Open Access
20 Scopus citations

Capicua Transcriptional Repressor-Rearranged Undifferentiated Round Cell Sarcoma Metastatic to the Brain Treated with Surgery and Stereotactic Radiosurgery

Helal, A., Graffeo, C. S., Perry, A., Cheville, J. C., Link, M. J. & Pollock, B. E., Jul 2020, In : World neurosurgery. 139, p. 12-19 8 p.

Research output: Contribution to journalArticle

Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex-Another Rare Component of the Syndrome?

Salomão, D. R., Ida, C. M., Greipp, P. T. & Carney, J. A., Jan 1 2020, (Accepted/In press) In : Ocular Oncology and Pathology.

Research output: Contribution to journalReview article

Cavernous malformation hemorrhagic presentation at diagnosis associated with low 25-hydroxy-vitamin D level

Flemming, K. D., Kumar, S., Brown, R. D., Singh, R. J., Whitehead, K., McCreath, L. & Lanzino, G., May 1 2020, In : Cerebrovascular Diseases. 49, 2, p. 216-222 7 p.

Research output: Contribution to journalArticle

CELLTOP Clinical Trial: First Report From a Phase 1 Trial of Autologous Adipose Tissue–Derived Mesenchymal Stem Cells in the Treatment of Paralysis Due to Traumatic Spinal Cord Injury

Bydon, M., Dietz, A. B., Goncalves, S., Moinuddin, F. M., Alvi, M. A., Goyal, A., Yolcu, Y., Hunt, C. L., Garlanger, K. L., Del Fabro, A. S., Reeves, R. K., Terzic, A., Windebank, A. J. & Qu, W., Feb 2020, In : Mayo Clinic proceedings. 95, 2, p. 406-414 9 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Center of Mass Calculation in Combination with MS/MS Allows Robust Identification of Single Amino Acid Polymorphisms in Clinical Measurements of Insulin-Like Growth Factor-1

Maus, A., Kemp, J., Milosevic, D., Renuse, S., Pandey, A., Singh, R. J. & Grebe, S. K. G., Jan 3 2020, In : Journal of Proteome Research. 19, 1, p. 186-193 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Characterising a healthy adult with a rare hao1 knockout to support a therapeutic strategy for primary hyperoxaluria

McGregor, T. L., Hunt, K. A., Yee, E., Mason, D., Nioi, P., Ticau, S., Pelosi, M., Loken, P. R., Finer, S., Lawlor, D. A., Fauman, E. B., Huang, Q. Q., Griffiths, C. J., Macarthur, D. G., Trembath, R. C., Oglesbee, D., Lieske, J. C., Erbe, D. V., Wright, J. & van Heel, D. A., Mar 2020, In : eLife. 9, e54363.

Research output: Contribution to journalArticle

Open Access

Characteristics Associated With Recruitment and Re-contact in Mayo Clinic Biobank

Hathcock, M. A., Kirt, C., Ryu, E., Bublitz, J., Gupta, R., Wang, L., Thibodeau, S. N., Larson, N. L., Cicek, M. S., Cerhan, J. R. & Olson, J. E., Feb 4 2020, In : Frontiers in Public Health. 8, 9.

Research output: Contribution to journalArticle

Open Access

Characteristics of patients with myelodysplastic syndrome with balanced translocations

Joshi, M., Greipp, P., Ball, C., Vinod Shah, M., Khurana, A., Yogarajah, M., Nguyen, P., He, R., Viswanatha, D., Jevremovic, D., Salama, M., Alkhateeb, H. B., Gangat, N., Patnaik, M., Begna, K., Hogan, W., Zblewski, D., Litzow, M. & Al-Kali, A., Jan 1 2020, (Accepted/In press) In : British journal of haematology.

Research output: Contribution to journalArticle

1 Scopus citations

cIMPACT-NOW update 5: recommended grading criteria and terminologies for IDH-mutant astrocytomas

Brat, D. J., Aldape, K., Colman, H., Figrarella-Branger, D., Fuller, G. N., Giannini, C., Holland, E. C., Jenkins, R. B., Kleinschmidt-DeMasters, B., Komori, T., Kros, J. M., Louis, D. N., McLean, C., Perry, A., Reifenberger, G., Sarkar, C., Stupp, R., van den Bent, M. J., von Deimling, A. & Weller, M., Mar 1 2020, In : Acta neuropathologica. 139, 3, p. 603-608 6 p.

Research output: Contribution to journalArticle

6 Scopus citations

cIMPACT-NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification and grading

Louis, D. N., Wesseling, P., Aldape, K., Brat, D. J., Capper, D., Cree, I. A., Eberhart, C., Figarella-Branger, D., Fouladi, M., Fuller, G. N., Giannini, C., Haberler, C., Hawkins, C., Komori, T., Kros, J. M., Ng, H. K., Orr, B. A., Park, S. H., Paulus, W., Perry, A. & 13 others, Pietsch, T., Reifenberger, G., Rosenblum, M., Rous, B., Sahm, F., Sarkar, C., Solomon, D. A., Tabori, U., van den Bent, M. J., von Deimling, A., Weller, M., White, V. A. & Ellison, D. W., Jan 1 2020, (Accepted/In press) In : Brain Pathology.

Research output: Contribution to journalArticle

2 Scopus citations

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

Li, H., LaDuca, H., Pesaran, T., Chao, E. C., Dolinsky, J. S., Parsons, M., Spurdle, A. B., Polley, E. C., Shimelis, H., Hart, S. N., Hu, C., Couch, F. J. & Goldgar, D. E., Apr 1 2020, In : Genetics in Medicine. 22, 4, p. 701-708 8 p.

Research output: Contribution to journalArticle

Open Access

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations

Kotwal, A., Ferrer, A., Kumar, R., Singh, R. J., Murthy, V., Schultz-Rogers, L., Zimmermann, M., Lanpher, B., Zimmerman, K., Stabach, P. R., Klee, E., Braddock, D. T. & Wermers, R. A., Apr 1 2020, In : Journal of Bone and Mineral Research. 35, 4, p. 662-670 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

Clinical massively parallel sequencing

Gao, G. & Smith, D. I., Jan 1 2020, In : Clinical chemistry. 66, 1, p. 77-88 12 p.

Research output: Contribution to journalArticle

Open Access

Clinical utility of fluorescence in situ hybridization-based diagnosis of BCR-ABL1 like (Philadelphia chromosome like) B-acute lymphoblastic leukemia

Anagnostou, T., Knudson, R. A., Pearce, K. E., Meyer, R. G., Pitel, B. A., Peterson, J. F., Baughn, L. B., Reichard, K. K., Ketterling, R. P., Kloft-Nelson, S. M., Knutson, D. L., Khan, S. P., Gangat, N., Litzow, M. R., Hogan, W. J., Wolanskyj, A., Al-Kali, A., Begna, K. H., Elliott, M., Pardanani, A. & 8 others, Foran, J., Shah, M., Tefferi, A., Alkhateeb, H., Halling, K., Rodriguez, V., Greipp, P. T. & Patnaik, M. M., Mar 1 2020, In : American journal of hematology. 95, 3, p. E68-E72

Research output: Contribution to journalLetter

Open Access

Clinicopathological significance of lymphocytic colitis/collagenous colitis in inflammatory bowel disease

Yuan, L., Wu, T. T., Chandan, V., Huang, Y. & Zhang, L., Feb 2020, In : Human Pathology. 96, p. 87-95 9 p.

Research output: Contribution to journalArticle

Coactivation of NF-kB and Notch signaling is sufficient to induce B-cell transformation and enables B-myeloid conversion

Xiu, Y., Dong, Q., Fu, L., Bossler, A., Tang, X., Boyce, B., Borcherding, N., Leidinger, M., Sardina, J. L., Xue, H. H., Li, Q., Feldman, A., Aifantis, I., Boccalatte, F., Wang, L., Jin, M., Khoury, J., Wang, W., Hu, S., Yuan, Y. & 10 others, Wang, E., Yuan, J., Janz, S., Colgan, J., Habelhah, H., Waldschmidt, T., Müschen, M., Bagg, A., Darbro, B. & Zhao, C., Jan 9 2020, In : Blood. 135, 2, p. 108-120 13 p.

Research output: Contribution to journalArticle

Cobalt and Chromium Ion Release in Metal-on-Polyethylene and Ceramic-on-Polyethylene THA: A Simulator Study With Cellular and Microbiological Correlations

Wyles, C. C., Paradise, C. R., Masters, T. L., Patel, R., van Wijnen, A. J., Abdel, M. P., Trousdale, R. T. & Sierra, R. J., Apr 2020, In : Journal of Arthroplasty. 35, 4, p. 1123-1129 7 p.

Research output: Contribution to journalArticle

2 Scopus citations

Coexistence of Myelin Oligodendrocyte Glycoprotein and Aquaporin-4 Antibodies in Adult and Pediatric Patients

Kunchok, A., Chen, J. J., McKeon, A., Mills, J. R., Flanagan, E. P. & Pittock, S. J., Feb 2020, In : JAMA neurology. 77, 2, p. 257-259 3 p.

Research output: Contribution to journalLetter

2 Scopus citations