Medical & Molecular Genetics

Publications

22 Scopus citations
17 Scopus citations

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

Weaver, D. D., Norby, A. R., Rosenfeld, J. A., Proud, V. K., Spangler, B. E., Ming, J. E., Chisholm, E., Zackai, E. H., Lee, B. H., Edelmann, L. & Desnick, R. J., May 1 2015, In : American Journal of Medical Genetics, Part A. 167, 5, p. 1061-1070 10 p.

Research output: Contribution to journalArticle

7 Scopus citations

Chromosome 5 and Parkinson disease

Foroud, T., Pankratz, N. & Martinez, M., Oct 1 2006, In : European Journal of Human Genetics. 14, 10, p. 1106-1110 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

Chromosome 6 workshop

Nurnberger, J. I. & Foroud, T., Jan 1 1998, In : Psychiatric genetics. 8, 2, p. 79-83 5 p.

Research output: Contribution to journalArticle

6 Scopus citations

Chromosome 6 workshop report

Nurnberger, J. I. & Foroud, T., Jun 18 1999, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 88, 3, p. 233-238 6 p.

Research output: Contribution to journalArticle

34 Scopus citations

Chronic hyperphosphatemia and vascular calcification are reduced by stable delivery of soluble klotho

Hum, J. M., O'Bryan, L. M., Tatiparthi, A. K., Cass, T. A., Clinkenbeard, E. L., Cramer, M. S., Bhaskaran, M., Johnson, R. L., Wilson, J. M., Smith, R. C. & White, K. E., Apr 2017, In : Journal of the American Society of Nephrology. 28, 4, p. 1162-1174 13 p.

Research output: Contribution to journalArticle

28 Scopus citations
26 Scopus citations

Chronic myelogenous leukaemia CD34+ cells exit G0/G1 phases of cell cycle more rapidly than normal marrow CD34+ cells

Traycoff, C. M., Halstead, B., Rice, S., Mcmahel, J., Srour, E. F. & Cornetta, K., Sep 1 1998, In : British journal of haematology. 102, 3, p. 759-767 9 p.

Research output: Contribution to journalArticle

35 Scopus citations

Chronic myelomonocytic leukemia: The role of bone marrow biopsy immunohistology

Orazi, A., Chiu, R., O'Malley, D. P., Czader, M., Allen, S. L., An, C. & Vance, G. H., Dec 15 2006, In : Modern Pathology. 19, 12, p. 1536-1545 10 p.

Research output: Contribution to journalArticle

68 Scopus citations

Circulating αKlotho influences phosphate handling by controlling FGF23 production

Smith, R. C., O'Bryan, L. M., Farrow, E. G., Summers, L. J., Clinkenbeard, E. L., Roberts, J. L., Cass, T. A., Saha, J., Broderick, C., Ma, Y. L., Zeng, Q. Q., Kharitonenkov, A., Wilson, J. M., Guo, Q., Sun, H., Allen, M. R., Burr, D. B., Breyer, M. D. & White, K. E., Dec 3 2012, In : Journal of Clinical Investigation. 122, 12, p. 4710-4715 6 p.

Research output: Contribution to journalArticle

96 Scopus citations

Citrin deficiency, a perplexing global disorder

Dimmock, D., Maranda, B., Dionisi-Vici, C., Wang, J., Kleppe, S., Fiermonte, G., Bai, R., Hainline, B., Hamosh, A., O'Brien, W. E., Scaglia, F. & Wong, L. J., Jan 1 2009, In : Molecular Genetics and Metabolism. 96, 1, p. 44-49 6 p.

Research output: Contribution to journalArticle

65 Scopus citations

Classification of Indeterminate Melanocytic Lesions by MicroRNA Profiling

Latchana, N., del Campo, S. E. M., Grignol, V. P., Clark, J. R., Albert, S. P., Zhang, J., Wei, L., Aldrink, J. H., Nicol, K. K., Ranalli, M. A., Peters, S. B., Gru, A., Trihka, P., Payne, P. R. O., Howard, J. H. & Carson, W. E., Feb 1 2017, In : Annals of Surgical Oncology. 24, 2, p. 347-354 8 p.

Research output: Contribution to journalArticle

6 Scopus citations

Class selection of amino acid metabolites in body fluids using chemical derivatization and their enhanced 13C NMR

Shanaiah, N., Desilva, M. A., Gowda, G. A. N., Raftery, M. A., Hainline, B. E. & Raftery, D., Jul 10 2007, In : Proceedings of the National Academy of Sciences of the United States of America. 104, 28, p. 11540-11544 5 p.

Research output: Contribution to journalArticle

78 Scopus citations

CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men

Chu, K., Koller, D. L., Ichikawa, S., Snyder, R., Curry, L., Lai, D., Austin, A., Xuei, X., Edenberg, H. J., Hui, S. L., Foroud, T. M., Peacock, M. & Econs, M. J., Dec 1 2008, In : Bone. 43, 6, p. 995-998 4 p.

Research output: Contribution to journalArticle

5 Scopus citations

Clec16a is Critical for Autolysosome Function and Purkinje Cell Survival

Redmann, V., Lamb, C. A., Hwang, S., Orchard, R. C., Kim, S., Razi, M., Milam, A., Park, S., Yokoyama, C. C., Kambal, A., Kreamalmeyer, D., Bosch, M. K., Xiao, M., Green, K., Kim, J., Pruett-Miller, S. M., Ornitz, D. M., Allen, P. M., Beatty, W. L., Schmidt, R. E. & 3 others, Diantonio, A., Tooze, S. A. & Virgin, H. W., Mar 18 2016, In : Scientific reports. 6, 23326.

Research output: Contribution to journalArticle

Open Access
13 Scopus citations

Clinical/Scientific Notes: The Alzheimer's disease sequencing project: Study design and sample selection

Beecham, G. W., Bis, J. C., Martin, E. R., Choi, S. H., DeStefano, A. L., Van Duijn, C. M., Fornage, M., Gabriel, S. B., Koboldt, D. C., Larson, D. E., Naj, A. C., Psaty, B. M., Salerno, W., Bush, W. S., Foroud, T. M., Wijsman, E., Farrer, L. A., Goate, A., Haines, J. L., Pericak-Vance, M. A. & 4 others, Boerwinkle, E., Mayeux, R., Seshadri, S. & Schellenberg, G., Oct 1 2017, In : Neurology: Genetics. 3, 5, e194.

Research output: Contribution to journalArticle

20 Scopus citations

Clinical and biomarker changes in premanifest Huntington disease show trial feasibility: A decade of the PREDICT-HD study

Paulsen, J. S., Long, J. D., Johnson, H. J., Aylward, E. H., Ross, C. A., Williams, J. K., Nance, M. A., Erwin, C. J., Westervelt, H. J., Harrington, D. L., Bockholt, H. J., Zhang, Y., McCusker, E. A., Chiu, E. M., Panegyres, P. K., Cross, S., Ryan, P., Epping, E. A., Preston, J., Goh, A. & 86 others, Antonopoulos, S., Loi, S., Raymond, L., Decolongon, J., Fan, M., Coleman, A., Mallone, W. M., Suter, G., Varvaris, M., Yoritomo, N., Griffith, J., Loy, C., Gunn, D., Guttman, M., Sheinberg, A., Law, A., Quaid, K., Wesson, M., Wojcieszek, J., Perlmutter, J., Barton, S., Smith, S., Barker, R. A., Mason, S., Guzman, N. V., Perlman, S., Clemente, B., Jones, R., Wood-Siverio, C., Factor, S. A., Samii, A., Macaraeg, A., Lee, J., Tedesco, M., Maxwell, B., Kumar, R., Erickson, D., Nickels, B., Marshall, F., Chesire, A., Wodarski, M., Hickey, C., Geschwind, M. D., Sha, S., Satris, G., Ahmed, A., Reece, C., Bura, A., Mourany, L., Pillai, J., Mazzoni, P., Marder, K., Wasserman, P., Craufurd, D., Bek, J., Howard, E., Warner, T., Burrows, M., Orth, M., Süßmuth, S., Barth, K., Trautmann, S., Schwenk, D., Eschenbach, C., Wheelock, V., Kjer, L., Martin, A., Farias, S., Miedzybrodzka, Z., Rae, D., D'Alessandro, M., Suchowersky, O., Chua, P., Komiti, A., Rosas, D., Rosser, A., Price, K., Hunt, S., Jankovic, J., Ondo, W., Martin, W., King, P., Wieler, M., Sran, S., de Yébenes, J. G. & Dubinsky, R., 2014, In : Frontiers in Aging Neuroscience. 6, APR, Article 78.

Research output: Contribution to journalArticle

118 Scopus citations

Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases

Font-Montgomery, E., Weaver, D. D., Walsh, L., Christensen, C. & Thurston, V. C., Jun 1 2004, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 70, 6, p. 408-415 8 p.

Research output: Contribution to journalArticle

11 Scopus citations
Open Access
1 Scopus citations
3 Scopus citations

Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration

on behalf of the ARTFL and LEFFTDS consortia, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 49-59 11 p.

Research output: Contribution to journalArticle

Open Access

Clinical correlates of depressive symptoms in familial Parkinson's disease

Pankratz, N., Marder, K. S., Halter, C. A., Rudolph, A., Shults, C. W., Nichols, W. C. & Foroud, T., Nov 15 2008, In : Movement Disorders. 23, 15, p. 2216-2223 8 p.

Research output: Contribution to journalArticle

26 Scopus citations

Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency

Shaw, K. L., Garabedian, E., Mishra, S., Barman, P., Davila, A., Carbonaro, D., Shupien, S., Silvin, C., Geiger, S., Nowicki, B., Smogorzewska, E. M., Brown, B., Wang, X., De Oliveira, S., Choi, Y., Ikeda, A., Terrazas, D., Fu, P. Y., Yu, A., Fernandez, B. C. & 24 others, Cooper, A. R., Engel, B., Podsakoff, G., Balamurugan, A., Anderson, S., Muul, L., Jagadeesh, G. J., Kapoor, N., Tse, J., Moore, T. B., Purdy, K., Rishi, R., Mohan, K., Skoda-Smith, S., Buchbinder, D., Abraham, R. S., Scharenberg, A., Yang, O. O., Cornetta, K., Gjertson, D., Hershfield, M., Sokolic, R., Candotti, F. & Kohn, D. B., May 1 2017, In : Journal of Clinical Investigation. 127, 5, p. 1689-1699 11 p.

Research output: Contribution to journalArticle

34 Scopus citations

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

Ishihara, L., Warren, L., Gibson, R., Amouri, R., Lesage, S., Dürr, A., Tazir, M., Wszolek, Z. K., Uitti, R. J., Nichols, W. C., Griffith, A., Hattori, N., Leppert, D., Watts, R., Zabetian, C. P., Foroud, T. M., Farrer, M. J., Brice, A., Middleton, L. & Hentati, F., Sep 19 2006, In : Archives of Neurology. 63, 9, p. 1250-1254 5 p.

Research output: Contribution to journalArticle

72 Scopus citations

Clinical features of trisomy 12 mosaicism-Report and review

Hong, B., Zunich, J., Openshaw, A. & M. Toydemir, R., 2017, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

6 Scopus citations

Clinical-genetic associations in the Prospective Huntington at Risk Observational Study (PHAROS) implications for clinical trials

The Huntington Study Group PHAROS Investigators, Jan 2016, In : JAMA Neurology. 73, 1, p. 102-110 9 p.

Research output: Contribution to journalArticle

Open Access
23 Scopus citations

Clinical implications of gene discovery in Parkinson's disease and parkinsonism

Wider, C., Foroud, T. & Wszolek, Z. K., Dec 20 2010, In : Movement Disorders. 25, SUPPL. 1, p. S15-S20

Research output: Contribution to journalArticle

15 Scopus citations

Clinical laboratory reports in molecular pathology

Gulley, M. L., Braziel, R. M., Halling, K. C., Hsi, E. D., Kant, J. A., Nikiforova, M. N., Nowak, J. A., Ogino, S., Oliveira, A., Polesky, H. F., Silverman, L., Tubbs, R. R., Van Deerlin, V. M., Vance, G. H. & Versalovic, J., Jun 1 2007, In : Archives of Pathology and Laboratory Medicine. 131, 6, p. 852-863 12 p.

Research output: Contribution to journalArticle

84 Scopus citations
15 Scopus citations

Clinical retroviral vector production: Step filtration using clinically approved filters improves titers

Reeves, L. & Cornetta, K., Dec 1 2000, In : Gene Therapy. 7, 23, p. 1993-1998 6 p.

Research output: Contribution to journalArticle

32 Scopus citations

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2020, In : Human Mutation. 41, 1, p. 299-315 17 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Clinical use of amyloid-positron emission tomography neuroimaging: Practical and bioethical considerations

Witte, M. M., Foster, N. L., Fleisher, A. S., Williams, M. M., Quaid, K., Wasserman, M., Hunt, G., Roberts, J. S., Rabinovici, G. D., Levenson, J. L., Hake, A. M., Hunter, C. A., Van Campen, L. E., Pontecorvo, M. J., Hochstetler, H. M., Tabas, L. B. & Trzepacz, P. T., Sep 1 2015, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 1, 3, p. 358-367 10 p.

Research output: Contribution to journalArticle

25 Scopus citations

Clonal dominance detected in metastases but not primary tumors of retrovirally marked human breast carcinoma injected into nude mice

Cornetta, K., Moore, A., Johannessohn, M. & Sledge, G. W., Jan 1 1994, In : Clinical & Experimental Metastasis. 12, 1, p. 3-12 10 p.

Research output: Contribution to journalArticle

16 Scopus citations

Cloning a cDNA for carbonyl reductase (Cbr) from mouse cerebellum: Murine genes that express Cbr map to chromosomes 16 and 11

Jianjun, W., Dlouhy, S. R., Hara, A., Ghetti, B. & Hodes, M. E., May 15 1996, In : Genomics. 34, 1, p. 147-148 2 p.

Research output: Contribution to journalArticle

18 Scopus citations

Clouston syndrome: an ultrastructural study

Escobar, V., Goldblatt, L. I., Bixler, D. & Weaver, D., Aug 1983, In : Clinical Genetics. 24, 2, p. 140-146 7 p.

Research output: Contribution to journalArticle

15 Scopus citations

Cognitive domains that predict time to diagnosis in prodromal Huntington disease

The PREDICT-HD Investigators of the Huntington Study Group, Jun 1 2012, In : Journal of Neurology, Neurosurgery and Psychiatry. 83, 6, p. 612-619 8 p.

Research output: Contribution to journalArticle

58 Scopus citations

Cognitive scores in carriers of huntington's disease gene compared to noncarriers

Foroud, T., Siemers, E., Kleindorfer, D., Bill, D. J., Hodes, M. E., Norton, J. A., Conneally, P. M. & Christian, J. C., May 1995, In : Annals of neurology. 37, 5, p. 657-664 8 p.

Research output: Contribution to journalArticle

111 Scopus citations

Collaborative initiative on fetal alcohol spectrum disorders: Methodology of clinical projects

Mattson, S. N., Foroud, T., Sowell, E. R., Jones, K. L., Coles, C. D., Fagerlund, Å., Autti-Rämö, I., May, P. A., Adnams, C. M., Konovalova, V., Wetherill, L., Arenson, A. D., Barnett, W. K. & Riley, E. P., Nov 1 2010, In : Alcohol. 44, 7-8, p. 635-641 7 p.

Research output: Contribution to journalArticle

59 Scopus citations

Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms

Ton, Q. V., Leino, D., Mowery, S. A., Bredemeier, N. O., Lafontant, P. J., Lubert, A., Gurung, S., Farlow, J. L., Foroud, T. M., Broderick, J. & Sumanas, S., Dec 2018, In : DMM Disease Models and Mechanisms. 11, 12, dmm033654.

Research output: Contribution to journalArticle

4 Scopus citations

College of American pathologists proposal for the oversight of laboratory-developed tests

Vance, G. H., Nov 1 2011, In : Archives of Pathology and Laboratory Medicine. 135, 11, p. 1432-1435 4 p.

Research output: Contribution to journalArticle

9 Scopus citations
18 Scopus citations

Combined experimental and simulation study of blood clot formation

Xu, Z., Lioi, J., Alber, M., Mu, J., Liu, X., Chen, D. Z., Kamocka, M. M. & Rosen, E. D., Dec 1 2009, TIC-STH'09: 2009 IEEE Toronto International Conference - Science and Technology for Humanity. p. 357-362 6 p. 5444476. (TIC-STH'09: 2009 IEEE Toronto International Conference - Science and Technology for Humanity).

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

8 Scopus citations

Combined Face–Brain Morphology and Associated Neurocognitive Correlates in Fetal Alcohol Spectrum Disorders

the CIFASD, Sep 2018, In : Alcoholism: Clinical and Experimental Research. 42, 9, p. 1769-1782 14 p.

Research output: Contribution to journalArticle

8 Scopus citations

Combined neuropathological pathways account for age-related risk of dementia

Power, M. C., Mormino, E., Soldan, A., James, B. D., Yu, L., Armstrong, N. M., Bangen, K. J., Delano-Wood, L., Lamar, M., Lim, Y. Y., Nudelman, K., Zahodne, L., Gross, A. L., Mungas, D., Widaman, K. F. & Schneider, J., Jul 2018, In : Annals of neurology. 84, 1, p. 10-22 13 p.

Research output: Contribution to journalArticle

20 Scopus citations

Combined sequence-based and genetic mapping analysis of complex traits in outbred rats

Baud, A., Hermsen, R., Guryev, V., Stridh, P., Graham, D., McBride, M. W., Foroud, T., Calderari, S., Diez, M., Ockinger, J., Beyeen, A. D., Gillett, A., Abdelmagid, N., Guerreiro-Cacais, A. O., Jagodic, M., Tuncel, J., Norin, U., Beattie, E., Huynh, N., Miller, W. H. & 50 others, Koller, D. L., Alam, I., Falak, S., Osborne-Pellegrin, M., Martinez-Membrives, E., Canete, T., Blazquez, G., Vicens-Costa, E., Mont-Cardona, C., Diaz-Moran, S., Tobena, A., Hummel, O., Zelenika, D., Saar, K., Patone, G., Bauerfeind, A., Bihoreau, M. T., Heinig, M., Lee, Y. A., Rintisch, C., Schulz, H., Wheeler, D. A., Worley, K. C., Muzny, D. M., Gibbs, R. A., Lathrop, M., Lansu, N., Toonen, P., Ruzius, F. P., De Bruijn, E., Hauser, H., Adams, D. J., Keane, T., Atanur, S. S., Aitman, T. J., Flicek, P., Malinauskas, T., Jones, E. Y., Ekman, D., Lopez-Aumatell, R., Dominiczak, A. F., Johannesson, M., Holmdahl, R., Olsson, T., Gauguier, D., Hubner, N., Fernandez-Teruel, A., Cuppen, E., Mott, R. & Flint, J., Jul 2013, In : Nature genetics. 45, 7, p. 767-775 9 p.

Research output: Contribution to journalArticle

102 Scopus citations

Combined shock-wave and immunogene therapy of mouse melanoma and renal carcinoma tumors

Song, J., Tata, D., Li, L., Taylor, J., Bao, S. & Miller, D. L., Jul 1 2002, In : Ultrasound in Medicine and Biology. 28, 7, p. 957-964 8 p.

Research output: Contribution to journalArticle

27 Scopus citations

Common biological networks underlie genetic risk for alcoholism in African- and European-American populations

Kos, M. Z., Yan, J., Dick, D. M., Agrawal, A., Bucholz, K. K., Rice, J. P., Johnson, E. O., Schuckit, M., Kuperman, S., Kramer, J., Goate, A. M., Tischfield, J. A., Foroud, T., Nurnberger, J., Hesselbrock, V., Porjesz, B., Bierut, L. J., Edenberg, H. J. & Almasy, L., Jul 1 2013, In : Genes, Brain and Behavior. 12, 5, p. 532-542 11 p.

Research output: Contribution to journalArticle

18 Scopus citations
3 Scopus citations

Comparative genomic analysis of drosophila melanogaster and vector mosquito developmental genes

Behura, S. K., Haugen, M., Flannery, E., Sarro, J., Tessier, C. R., Severson, D. W. & Duman-Scheel, M., 2011, In : PloS one. 6, 7, e21504.

Research output: Contribution to journalArticle

36 Scopus citations