Medical & Molecular Genetics

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Letter
Letter

Additional case report of new neuroectodermal syndrome.

Zunich, J. & Kaye, C. I., Mar 1984, In : American journal of medical genetics. 17, 3, p. 707-710 4 p.

Research output: Contribution to journalLetter

10 Scopus citations

A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease [3]

Hodes, M. E., Aydanian, A., Dlouhy, S. R., Whelan, D. T., Heshka, T. & Ronen, G., 1998, In : Clinical Genetics. 54, 3, p. 248-249 2 p.

Research output: Contribution to journalLetter

2 Scopus citations

Autosomal Recessive Transmission of Neuroectodermal Syndrome

Zunich, J., Esterly, N. B. & Kaye, C. I., Aug 1988, In : Archives of Dermatology. 124, 8, p. 1188-1189 2 p.

Research output: Contribution to journalLetter

10 Scopus citations

Case 29-2001: Oncogenic hypophosphatemic osteomalacia [5] (multiple letters)

White, K. E., Waguespack, S. G., Econs, M. J. & Terek, R. M., Jan 31 2002, In : New England Journal of Medicine. 346, 5, p. 381-382 2 p.

Research output: Contribution to journalLetter

5 Scopus citations

Chromosomal arrangement of the murine coagulation factor VII and factor X genes [6]

Liang, Z., Cooper, A., Rosen, E. D. & Castellino, F. J., 1998, In : Thrombosis and Haemostasis. 80, 3, p. 524-525 2 p.

Research output: Contribution to journalLetter

5 Scopus citations

Concerns about the genetics of pre-eclampsia [1]

Van Meter, T. D., Weaver, D. D., Hayward, C. & Brock, D. J. H., Jan 1 1993, In : American Journal of Human Genetics. 52, 5, p. 1012-1014 3 p.

Research output: Contribution to journalLetter

CONGENITAL ABNORMALITIES IN BABY BORN TO CYTARABINE TREATED MOTHER

Wagner, V. M., Hill, J. S., Weaver, D. & Baehner, R. L., Jan 1 1980, In : The Lancet. 316, 8185, p. 98-99 2 p.

Research output: Contribution to journalLetter

50 Scopus citations

CYP2D6 genotype and tamoxifen response

Rae, J. M., Goetz, M. P., Hayes, D. F., Ingle, J. N., Li, L., Storniolo, A. M., Stearns, V. & Flockhart, D. A., Jul 29 2005, In : Breast Cancer Research. 7, 5, E6.

Research output: Contribution to journalLetter

Open Access
14 Scopus citations
2 Scopus citations

Donor leukocyte infusion as therapy of life-threatening adenoviral infections after T-cell-depleted bone marrow transplantation [5]

Hromas, R., Cornetta, K., Srour, E., Blanke, C. & Broun, E. R., Jan 1 1994, In : Blood. 84, 5, p. 1689-1690 2 p.

Research output: Contribution to journalLetter

Open Access
127 Scopus citations

Don't give up on GWAS

on behalf of 96 Psychiatric Genetics Investigators, Jan 1 2012, In : Molecular Psychiatry. 17, 1, p. 2-3 2 p.

Research output: Contribution to journalLetter

46 Scopus citations

Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features

Henson, K. E., Hines, K. A., Weaver, D. D., Torres, W. M., Verbrugge, J., Stone, K. & Vance, G. H., Jul 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 7, p. 1788-1792 5 p.

Research output: Contribution to journalLetter

4 Scopus citations

Erythropoietin stimulates murine and human fibroblast growth factor-23, revealing novel roles for bone and bone marrow

Clinkenbeard, E. L., Hanudel, M. R., Stayrook, K. R., Appaiah, H. N., Farrow, E. G., Cass, T. A., Summers, L. J., Ip, C. S., Hum, J. M., Thomas, J. C., Ivan, M., Richine, B. M., Chan, R. J., Clemens, T. L., Schipani, E., Sabbagh, Y., Xu, L., Srour, E. F., Alvarez, M. B., Kacena, M. A. & 4 others, Salusky, I. B., Ganz, T., Nemeth, E. & White, K. E., Oct 27 2017, In : Haematologica. 102, 11, p. e427-e430

Research output: Contribution to journalLetter

36 Scopus citations

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A persistent challenge 18 years later

Escobar, L. F. & Weaver, D. D., May 1 2009, In : American Journal of Medical Genetics, Part A. 149, 5, p. 1099-1101 3 p.

Research output: Contribution to journalLetter

Extended mutational analyses of FGFR1 in osteoglophonic dysplasia [4]

Farrow, E. G., Davis, S. I., Atooney, S. D., Beighton, P., Mascarenhas, L., Gutierrez, Y. R., Pitukcheewanont, P. & White, K. E., Mar 1 2006, In : American Journal of Medical Genetics. 140 A, 5, p. 537-539 3 p.

Research output: Contribution to journalLetter

34 Scopus citations

Failure of ribavirin to clear adenovirus infections in T cell-depleted allogeneic bone marrow transplantation [1]

Hromas, R., Clark, R., Blanke, C., Tricot, G., Cornetta, K., Hedderman, A. & Broun, E. R., Jan 1 1994, In : Bone Marrow Transplantation. 14, 4, p. 663-664 2 p.

Research output: Contribution to journalLetter

36 Scopus citations

FXI is essential for thrombus formation following FeCl3-induced injury of the carotid artery in the mouse

Rosen, E. D., Gailani, D. & Castellino, F. J., 2002, In : Thrombosis and Haemostasis. 87, 4, p. 774-776 3 p.

Research output: Contribution to journalLetter

107 Scopus citations

Hyperexplexia: Not Hereditary Stiff-Baby Syndrome

Weaver, D. D. & Morley, D. J., Jun 1982, In : American Journal of Diseases of Children. 136, 6, 1 p.

Research output: Contribution to journalLetter

4 Scopus citations

Hypophosphatemia, osteomalacia and proximal muscle weakness treated by surgery [2]

Hoogendoorn, E. H., White, K. E., Econs, M. J. & Hermus, A. R., Jun 1 2003, In : Clinical Endocrinology. 58, 6, p. 796-797 2 p.

Research output: Contribution to journalLetter

11 Scopus citations

In Reply

Weaver, D. D. & Yu, P. L., Dec 1986, In : American Journal of Diseases of Children. 140, 12, p. 1215-1216 2 p.

Research output: Contribution to journalLetter

In Reply

Weaver, D. D. & Yu, P. L., Nov 1986, In : American Journal of Diseases of Children. 140, 11, 1 p.

Research output: Contribution to journalLetter

Interpretation of Genetic Linkage Findings (multiple letters)

Liu, Y., Xu, F., Recker, R. R., Deng, H. W., Koller, D. L., White, K. E., Liu, G., Hui, S. L., Conneally, P. M., Johnston, C. C., Econs, M. J., Foroud, T. & Peacock, M., Nov 2003, In : Journal of Bone and Mineral Research. 18, 11, p. 2077-2078 2 p.

Research output: Contribution to journalLetter

2 Scopus citations

Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families [1]

Nichols, W. C., Pankratz, N., Uniacke, S. K., Pauciulo, M. W., Halter, C., Rudolph, A., Conneally, P. M., Foroud, T., Carter, J., Camicioli, R., Wojcieszek, J., Fernandez, M., Hubble, J., Rajput, A., Panisset, M., Mendis, T., Grimes, D. A., Serrano Ramos, C., Reich, S., Hauser, R. & 53 others, Sanchez-Ramos, J., Zesiewicz, T., Pfeiffer, R., Friedman, J., Fernandez, H., Shults, C., Seeberger, L., O'Brien, C., Pahwa, R., Elmer, L., Jennings, D., Marek, K., Truong, D., Pathak, M., Rodnitzyk, R., Kurlan, R., Tuite, P., Aminoff, M., Marder, K., Lewitt, P., Koller, W., Martin, W., Jankovic, J., Bertoni, J., Factor, S., Walker, F., Jung Kang, U., Stacy, M., Simon, D., Blindauer, K., Manyam, B., Nieves, A., Velickovic, M., Gordon, M. F., Leehey, M., Gordon, P., Rao, J., Dalvi, A., Racette, B., Sethi, K., Sudarsky, L., Saunders Pullman, R., Simuni, T., Dewey, R., Hermanowicz, N., Feigin, A., Calabresse, V., Sutton, J., Ajax, T., Podakalny, G. D., Suchowersky, O., Uitti, R. & Shulman, L., 2002, In : Journal of Medical Genetics. 39, 7, p. 489-492 4 p.

Research output: Contribution to journalLetter

48 Scopus citations

Long-term outcome of NPM1 mutated acute myeloid leukemia: A single-institution experience

Sayar, S., Bashardoust, P., Cripe, L., Chakraborty, S. & Bai, S., Feb 1 2017, In : American Journal of Hematology. 92, 2, p. E17-E18

Research output: Contribution to journalLetter

2 Scopus citations

Michael J. Fox Foundation LRRK2 Consortium: Geographical differences in returning genetic research data to study participants

Alcalay, R. N., Aasly, J., Berg, D., Bressman, S., Brice, A., Brockmann, K., Chan, P., Clark, L., Cormier, F., Corvol, J. C., Durr, A., Facheris, M., Farrer, M., Foroud, T. M., Gasser, T., Giladi, N., Halter, C., Lang, A., Langston, J. W., Marras, C. & 15 others, Marti-Masso, J. F., Ruiz Martinez, J., Mejia-Santana, H., Mirelman, A., Pont-Sunyer, C., Orr-Urtreger, A., Raymond, D., Saunders-Pullman, R., Schüle, B., Tanner, C., Tolosa, E., Urkowitz, A., Vilas, D., Wise, A. & Marder, K., Aug 2014, In : Genetics in Medicine. 16, 8, p. 644-645 2 p.

Research output: Contribution to journalLetter

6 Scopus citations

Minimum guidelines for the delivery of clinical genetics services [1]

Weaver, D. D., Baker, D., Theobald, M., Cohen, F., King, R. A., Krueger, S., Laxova, R. & Lubinsky, M. S., Jan 1 1993, In : American Journal of Human Genetics. 53, 1, p. 287-289 3 p.

Research output: Contribution to journalLetter

8 Scopus citations

Naloxone alters pain perception after jogging

Haier, R. J., Quaid, K. & Mills, J. S. C., Oct 1981, In : Psychiatry Research. 5, 2, p. 231-232 2 p.

Research output: Contribution to journalLetter

82 Scopus citations

Presymptomatic testing for Huntington disease in the United States [5]

Quaid, K. A., Jan 1 1993, In : American Journal of Human Genetics. 53, 3, p. 785-787 3 p.

Research output: Contribution to journalLetter

14 Scopus citations

Reply to E.A. Rakha et al

Wolff, A. C., Elizabeth, M., Hammond, H., Hicks, D. G., Allison, K. H., Bartlett, J. M. S., Bilous, M., Fitzgibbons, P., Hanna, W., Jenkins, R. B., Mangu, P. B., Paik, S., Perez, E. A., Press, M. F., Spears, P. A., Vance, G. H., Viale, G., Dowsett, M., McShane, L. M. & Hayes, D. F., Mar 20 2015, In : Journal of Clinical Oncology. 33, 11, p. 1302-1303 2 p.

Research output: Contribution to journalLetter

17 Scopus citations

Tau mutations as a novel risk factor for cancer—letter

the LEFFTDS Consortium, Nov 15 2018, In : Cancer Research. 78, 22, p. 6523-6524 2 p.

Research output: Contribution to journalLetter

1 Scopus citations

Testing for BRCA1 in Hereditary Breast Cancer

Vance, G. H., Mar 15 1995, In : JAMA: The Journal of the American Medical Association. 273, 11, p. 845-846 2 p.

Research output: Contribution to journalLetter

The ACMG CYTO2000 subcommittee?

Chen, A. T. L., Ing, P. S., Reidy, J. A., Schwartz, S., Vance, G. H. & Van Dyke, D. L., Jan 1 1998, In : Genetics in Medicine. 1, 1, 1 p.

Research output: Contribution to journalLetter

Open Access
2 Scopus citations

The Decision to Be Tested for Huntington’s Disease

Quaid, K. A., Brandt, J. & Folstein, S. E., Jun 26 1987, In : JAMA: The Journal of the American Medical Association. 257, 24, 1 p.

Research output: Contribution to journalLetter

12 Scopus citations

The Martin-Bell Syndrome: The Physician's Dilemma

Berger, C. A. & Weaver, D. D., Feb 1985, In : American Journal of Diseases of Children. 139, 2, 1 p.

Research output: Contribution to journalLetter

The Moebius syndrome: Aetiology, incidence of mental retardation, and genetics

Lipson, T., Webster, W. & Weaver, D. D., Jan 1 1990, In : Journal of Medical Genetics. 27, 8, p. 533-535 3 p.

Research output: Contribution to journalLetter

9 Scopus citations

Translating the genomics revolution: The need for an international gene therapy consortium for monogenic diseases

Tremblay, J. P., Xiao, X., Aartsma-Rus, A., Barbas, C., Blau, H. M., Bogdanove, A. J., Boycott, K., Braun, S., Breakefield, X. O., Bueren, J. A., Buschmann, M., Byrne, B. J., Calos, M., Cathomen, T., Chamberlain, J., Chuah, M., Cornetta, K., Davies, K. E., Dickson, J. G., Duchateau, P. & 31 others, Flotte, T. R., Gaudet, D., Gersbach, C. A., Gilbert, R., Glorioso, J., Herzog, R. W., High, K. A., Huang, W., Huard, J., Joung, J. K., Liu, D., Liu, D., Lochmüller, H., Lustig, L., Martens, J., Massie, B., Mavilio, F., Mendell, J. R., Nathwani, A., Ponder, K., Porteus, M., Puymirat, J., Samulski, J., Takeda, SI., Thrasher, A., Vandendriessche, T., Wei, Y., Wilson, J. M., Wilton, S. D., Wolfe, J. H. & Gao, G., Feb 2013, In : Molecular Therapy. 21, 2, p. 266-268 3 p.

Research output: Contribution to journalLetter

10 Scopus citations

ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE

Estivill, X., Casals, T., Morral, N., Chillon, M., Bosch, A., Nunes, V., Gasparini, P., Seia, A., Pignatti, P. F., Novelli, G., Dallapiccola, B., Fernandez, E., Benitez, J. & Williamson, R., Dec 9 1989, In : The Lancet. 334, 8676, p. 1404 1 p.

Research output: Contribution to journalLetter

47 Scopus citations