Internal Medicine - Human Genetics – Research output

2023

An Unusual Cause of Diarrhea in Young Adulthood

Bejjani, J., Allain, D. C. & Hart, P., May 2023, In: Gastroenterology. 164, 6, p. e1-e2

Research output: Contribution to journal › Comment/debate

Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)

Fernandez-Rozadilla, C., Timofeeva, M., Chen, Z., Law, P., Thomas, M., Schmit, S., Díez-Obrero, V., Hsu, L., Fernandez-Tajes, J., Palles, C., Sherwood, K., Briggs, S., Svinti, V., Donnelly, K., Farrington, S., Blackmur, J., Vaughan-Shaw, P., Shu, X. O., Long, J., Cai, Q., & 190 othersGuo, X., Lu, Y., Broderick, P., Studd, J., Huyghe, J., Harrison, T., Conti, D., Dampier, C., Devall, M., Schumacher, F., Melas, M., Rennert, G., Obón-Santacana, M., Martín-Sánchez, V., Moratalla-Navarro, F., Oh, J. H., Kim, J., Jee, S. H., Jung, K. J., Kweon, S. S., Shin, M. H., Shin, A., Ahn, Y. O., Kim, D. H., Oze, I., Wen, W., Matsuo, K., Matsuda, K., Tanikawa, C., Ren, Z., Gao, Y. T., Jia, W. H., Hopper, J., Jenkins, M., Win, A. K., Pai, R., Figueiredo, J., Haile, R., Gallinger, S., Woods, M., Newcomb, P., Duggan, D., Cheadle, J., Kaplan, R., Maughan, T., Kerr, R., Kerr, D., Kirac, I., Böhm, J., Mecklin, L. P., Jousilahti, P., Knekt, P., Aaltonen, L., Rissanen, H., Pukkala, E., Eriksson, J., Cajuso, T., Hänninen, U., Kondelin, J., Palin, K., Tanskanen, T., Renkonen-Sinisalo, L., Zanke, B., Männistö, S., Albanes, D., Weinstein, S., Ruiz-Narvaez, E., Palmer, J., Buchanan, D., Platz, E., Visvanathan, K., Ulrich, C., Siegel, E., Brezina, S., Gsur, A., Campbell, P., Chang-Claude, J., Hoffmeister, M., Brenner, H., Slattery, M., Potter, J., Tsilidis, K., Schulze, M., Gunter, M., Murphy, N., Castells, A., Castellví-Bel, S., Moreira, L., Arndt, V., Shcherbina, A., Stern, M., Pardamean, B., Bishop, T., Giles, G., Southey, M., Idos, G., McDonnell, K., Abu-Ful, Z., Greenson, J., Shulman, K., Lejbkowicz, F., Offit, K., Su, Y. R., Steinfelder, R., Keku, T., van Guelpen, B., Hudson, T., Hampel, H., Pearlman, R., Berndt, S., Hayes, R., Martinez, M. E., Thomas, S., Corley, D., Pharoah, P., Larsson, S., Yen, Y., Lenz, H. J., White, E., Li, L., Doheny, K., Pugh, E., Shelford, T., Chan, A., Cruz-Correa, M., Lindblom, A., Hunter, D., Joshi, A., Schafmayer, C., Scacheri, P., Kundaje, A., Nickerson, D., Schoen, R., Hampe, J., Stadler, Z., Vodicka, P., Vodickova, L., Vymetalkova, V., Papadopoulos, N., Edlund, C., Gauderman, W., Thomas, D., Shibata, D., Toland, A., Markowitz, S., Kim, A., Chanock, S., van Duijnhoven, F., Feskens, E., Sakoda, L., Gago-Dominguez, M., Wolk, A., Naccarati, A., Pardini, B., FitzGerald, L., Lee, S. C., Ogino, S., Bien, S., Kooperberg, C., Li, C., Lin, Y., Prentice, R., Qu, C., Bézieau, S., Tangen, C., Mardis, E., Yamaji, T., Sawada, N., Iwasaki, M., Haiman, C., Le Marchand, L., Wu, A., Qu, C., McNeil, C., Coetzee, G., Hayward, C., Deary, I., Harris, S., Theodoratou, E., Reid, S., Walker, M., Ooi, L. Y., Moreno, V., Casey, G., Gruber, S., Tomlinson, I., Zheng, W., Dunlop, M., Houlston, R. & Peters, U., Mar 2023, In: Nature Genetics. 55, 3, p. 519-520 2 p.

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

Editorial Comment

Byrne, L., May 1 2023, In: Journal of Urology. 209, 5, p. 926-927 2 p.

Research output: Contribution to journal › Comment/debate

Erratum: Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment (British journal of cancer (2021) 124 9 (1524-1532))

kConFab Investigators, Polish Hereditary Breast Cancer Consortium, Hereditary Breast Cancer Clinical Study Group, Feb 1 2023, In: British Journal of Cancer. 128, 4, p. 703 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

Rethinking Patient Engagement in Cancer Research

Schuster, A. L. R., Hampel, H., Paskett, E. D. & Bridges, J. F. P., Mar 2023, In: Patient. 16, 2, p. 89-93 5 p.

Research output: Contribution to journal › Comment/debate

Open Access

8 Scopus citations

2022

Accreditation Council for Genetic Counseling Board of Directors Response to Myers et al ‘A report of the AGCPD task force to evaluate associations between select admissions requirements, demographics, and performance on ABGC certification examination’

McGinniss, M. A., Armel, S. R., Mann, S., Carmany, E. P., Creswick, H., McBrien, S. B., Reed, E. K., Eichmeyer, J. N. & Allain, D. C., Apr 2022, In: Journal of genetic counseling. 31, 2, p. 316-318 3 p.

Research output: Contribution to journal › Comment/debate

2 Scopus citations

Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))

GEMO Study Collaborators, GC-HBOC Study Collaborators, EMBRACE Collaborators, OPAL study group, AOCS Group, kConFab Investigators, HEBON Investigators, OCAC Consortium & CIMBA Consortium, May 1 2022, In: European Journal of Human Genetics. 30, 5, p. 630-631 2 p.

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

Predictive genetic testing for Motor neuron disease: time for a guideline?

International Alliance of ALS/MND Associations, Jun 2022, In: European Journal of Human Genetics. 30, 6, p. 635-636 2 p.

Research output: Contribution to journal › Comment/debate

Open Access

4 Scopus citations

2021

Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer (Nature Communications, (2020), 11, 1, (3981), 10.1038/s41467-020-17718-z)

Zhou, W., Brumpton, B., Kabil, O., Gudmundsson, J., Thorleifsson, G., Weinstock, J., Zawistowski, M., Nielsen, J. B., Chaker, L., Medici, M., Teumer, A., Naitza, S., Sanna, S., Schultheiss, U. T., Cappola, A., Karjalainen, J., Kurki, M., Oneka, M., Taylor, P., Fritsche, L. G., & 36 othersGraham, S. E., Wolford, B. N., Overton, W., Rasheed, H., Haug, E. B., Gabrielsen, M. E., Skogholt, A. H., Surakka, I., Davey Smith, G., Pandit, A., Roychowdhury, T., Hornsby, W. E., Jonasson, J. G., Senter, L., Liyanarachchi, S., Ringel, M. D., Xu, L., Kiemeney, L. A., He, H., Netea-Maier, R. T., Mayordomo, J. I., Plantinga, T. S., Hrafnkelsson, J., Hjartarson, H., Sturgis, E. M., Palotie, A., Daly, M., Citterio, C. E., Arvan, P., Brummett, C. M., Boehnke, M., de la Chapelle, A., Stefansson, K., Hveem, K., Willer, C. J. & Åsvold, B. O., Dec 2021, In: Nature Communications. 12, 1, 7354.

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (Genetics in Medicine, (2021), 23, 8, (1381-1390), 10.1038/s41436-021-01172-3)

ACMG Secondary Findings Working Group, Aug 2021, In: Genetics in Medicine. 23, 8, p. 1582-1584 3 p.

Research output: Contribution to journal › Comment/debate

Open Access

18 Scopus citations

2020

Re: 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., Aittomäki, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J., & 240 othersBarkardottir, 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., Caldés, 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., Puppa, L. D., 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., Feliubadaló, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberán, V., Garre, P., Gauthier-Villars, M., Géczi, 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-Fernández, 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., Nielsen, F. C. 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., Pérez-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. & Taneja, S. S., Sep 1 2020, In: Journal of Urology. 204, 3, p. 619-620 2 p.

Research output: Contribution to journal › Comment/debate

2019

Correction: Pik3ca c2 domain deletions hyperactivate phosphoinositide 3-kinase (pi3k), generate oncogene dependence, and are exquisitely sensitive to pi3ka inhibitors(Clin Cancer Res (2018) 24 (1426–35)DOI: 10.1158/1078-0432.CCR-17-2141)

Croessmann, S., Sheehan, J. H., Lee, K. M., Sliwoski, G., He, J., Nagy, R., Riddle, D., Mayer, I. A., Balko, J. M., Lanman, R., Miller, V. A., Cantley, L. C., Meiler, J. & Arteaga, C. L., Feb 15 2019, In: Clinical Cancer Research. 25, 4, p. 1432 1 p.

Research output: Contribution to journal › Comment/debate

Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (Genetics in Medicine, (2018), 20, 9, (899-909), 10.1038/s41436-018-0039-z)

on behalf of the ACMG Professional Practice and Guidelines Committee, Oct 1 2019, In: Genetics in Medicine. 21, 10, p. 2406-2409 4 p.

Research output: Contribution to journal › Comment/debate

Open Access

2 Scopus citations

Erratum: The Immune Landscape of Cancer (Immunity (2018) 48(4) (812–830.e14), (S1074761318301213), (10.1016/j.immuni.2018.03.023))

The Cancer Genome Atlas Research Network, Aug 20 2019, In: Immunity. 51, 2, p. 411-412 2 p.

Research output: Contribution to journal › Comment/debate

Open Access

188 Scopus citations

Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics

Klein, W. M. P., McBride, C. M., Allen, C. G., Arredondo, E. M., Bloss, C. S., Kaphingst, K. A., Sturm, A. C. & Wang, C., Feb 7 2019, In: American Journal of Human Genetics. 104, 2, p. 193-196 4 p.

Research output: Contribution to journal › Comment/debate

Open Access

6 Scopus citations

Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing

Klepek, H., Goutman, S. A., Quick, A., Kolb, S. J. & Roggenbuck, J., Feb 1 2019, In: Neurology: Genetics. 5, 1, e301.

Research output: Contribution to journal › Comment/debate

Open Access

13 Scopus citations

2018

Erratum: Comprehensive Characterization of Cancer Driver Genes and Mutations (ARTICLE (2018) 173(2) (371–385), (S009286741830237X), (10.1016/j.cell.2018.02.060))

The MC3 Working Group, The Cancer Genome Atlas Research Network, The MC3 Working Group & The Cancer Genome Atlas Research Network lding@wustl.edu, Aug 9 2018, In: Cell. 174, 4, p. 1034-1035 2 p.

Research output: Contribution to journal › Comment/debate

Open Access

246 Scopus citations

Erratum: The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma (Cell Reports (2018) 23(1) (313–326.e5) (S2211124718304364) (10.1016/j.celrep.2018.03.075))

The Cancer Genome Atlas Research Network, Jun 19 2018, In: Cell Reports. 23, 12, p. 3698 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

97 Scopus citations

2017

Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease (Journal of Genetic Counseling, (2017), 26, 4, (669-688), 10.1007/s10897-017-0081-z)

Morales, A., Allain, D. C., Arscott, P., James, E., MacCarrick, G., Murray, B., Tichnell, C., Shikany, A. R., Spencer, S., Fitzgerald-Butt, S. M., Kushner, J. D., Munn, C., Smith, E., Spoonamore, K. G., Tandri, H. S. & Aaron Kay, W., Aug 1 2017, In: Journal of genetic counseling. 26, 4, p. 689 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

2016

Cardiovascular Cascade Genetic Testing: Exploring the Role of Direct Contact and Technology

Sturm, A. C., Apr 19 2016, In: Frontiers in Cardiovascular Medicine. 3, 11.

Research output: Contribution to journal › Comment/debate

Open Access

28 Scopus citations

Erratum to: The Long and Short of Genetic Counseling Letters: A Case–control Study (J Genet Counsel, DOI 10.1007/s10897-014-9792-6)

Roggenbuck, J., Temme, R., Pond, D., Baker, J., Jarvis, K., Liu, M., Dugan, S. & Mendelsohn, N. J., Feb 1 2016, In: Journal of genetic counseling. 25, 1, p. 211 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

2014

Correction: Linear decay of retrotransposon antisense bias across genes is contingent upon tissue specificity (PLoS ONE)

Linker, S. & Hedges, D. J., Jan 8 2014, In: PLoS ONE. 9, 1

Research output: Contribution to journal › Comment/debate

Open Access

2012

Erratum: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies (Europace (2011) 13 (1077-1109) DOI: 10.1093/europace/eur245)

Ackerman, M. J., Priori, S. G., Willems, S., Berul, C., Brugada, R., Calkins, H., Camm, A. J., Ellinor, P. T., Gollob, M., Hamilton, R., Hershberger, R. E., Judge, D. P., Le Marec, H., McKenna, W. J., Schulze-Bahr, E., Semsarian, C., Towbin, J. A., Watkins, H., Wilde, A., Wolpert, C., & 1 othersZipes, D. P., Feb 2012, In: Europace. 14, 2, p. 277 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

2010

Erratum: Phenotypic diversity in patients with multiple serrated polyps: A genetics clinic study (International Journal of Colorectal Disease (2010) 25 (1513-1515))

Buchanan, D. D., Sweet, K., Drini, M., Jenkins, M. A., Win, A. K., Gattas, M., Walsh, M. D., Clendenning, M., McKeone, D., Walters, R., Roberts, A., Young, A., Hampel, H., Hopper, J. L., Goldblatt, J., George, J., Suthers, G. K., Phillips, K., Young, G. P., Chow, E., & 15 othersParry, S., Woodall, S., Tucker, K., Muir, A., Field, M., Greening, S., Gallinger, S., Green, J., Woods, M. O., Spaetgens, R., De La Chapelle, A., MacRae, F., Walker, N. I., Jass, J. R. & Young, J. P., Dec 2010, In: International Journal of Colorectal Disease. 25, 12, p. 1513-1515 3 p.

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

Hereditary predisposition rather than environmental factor are likely to explain the familial link between uveal melanoma and other cancers

Abdel-Rahman, M. H. & Pilarski, R., Dec 2010, In: Familial Cancer. 9, 4, p. 661-662 2 p.

Research output: Contribution to journal › Comment/debate

2009

Cowden syndrome: A critical review of the clinical literature

Pilarski, R., Feb 2009, In: Journal of genetic counseling. 18, 1, p. 13-27 15 p.

Research output: Contribution to journal › Comment/debate

244 Scopus citations

Recontacting patients who have tested negative for BRCA1 and BRCA2 mutations: How, who and why?

Hampel, H., Dec 2009, In: Journal of genetic counseling. 18, 6, p. 527-529 3 p.

Research output: Contribution to journal › Comment/debate

Open Access

12 Scopus citations

Risk perception among women at risk for hereditary breast and ovarian cancer

Pilarski, R., Aug 2009, In: Journal of genetic counseling. 18, 4, p. 303-312 10 p.

Research output: Contribution to journal › Comment/debate

Open Access

26 Scopus citations

2006

Erratum: Long-range PCR facilitates the identification of PMS2-specific mutations (Human Mutation (2006) 27, 5 (490-495))

Clendenning, M., Hampel, H., Lajeunesse, J., Lindblom, A., Lockman, J., Nilbert, M., Senter, L., Sotamaa, K. & De La Chapelle, A., Nov 2006, In: Human Mutation. 27, 11, p. 1155 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

2005

Inherited BRCA1 or BRCA2 gene-mutated tumors often carry EGFR mutations including in their stromal cells: Implications for therapy with tyrosine kinase inhibitors

Weber, F., Fukino, K., Sawada, T., Williams, N., Sweet, K., Brena, R. M., Plass, C. & Villalona, M. A., Jun 2005, In: Cancer Biology and Therapy. 4, 6

Research output: Contribution to journal › Comment/debate

2004