Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Matthew J, Ferber"'
Combining rare and common genetic variants improves population risk stratification for breast cancer
Autor:
Alexandre Bolze, Daniel Kiser, Kelly M. Schiabor Barrett, Gai Elhanan, Jamie M. Schnell Blitstein, Iva Neveux, Shaun Dabe, Harry Reed, Alexa Anderson, William J. Metcalf, Ekaterina Orlova, Ildiko Thibodeau, Natalie Telis, Ruomu Jiang, Nicole L. Washington, Matthew J. Ferber, Catherine Hajek, Elizabeth T. Cirulli, Joseph J. Grzymski
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101826- (2024)
Purpose: This study aimed to evaluate the performance of different genetic screening approaches to identify women at high risk of breast cancer in the general population. Methods: We retrospectively studied 25,591 women with available electronic heal
Externí odkaz:
https://doaj.org/article/91c30b4199254457893c3ce310c06a65
Combining rare and common genetic variants improves population risk stratification for breast cancer
Autor:
Alexandre Bolze, Daniel Kiser, Kelly M. Schiabor Barrett, Gai Elhanan, Jamie M. Schnell Blitstein, Iva Neveux, Shaun Dabe, Harry Reed, Alexa Anderson, William J. Metcalf, Ekaterina Orlova, Ildiko Thibodeau, Natalie Telis, Ruomu Jiang, Nicole L. Washington, Matthew J. Ferber, Catherine Hajek, Elizabeth T. Cirulli, Joseph J. Grzymski
PurposeIn the United States, breast cancer clinical risk assessments are inconsistent and inequitable. The previous success ofBRCA1andBRCA2screening has demonstrated that genetics could be used to reduce these inequities, if they are available and ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e4080e565505ee57c37a479e96f0bec
https://doi.org/10.1101/2023.05.17.23290132
https://doi.org/10.1101/2023.05.17.23290132
Autor:
Arupa Ganguly, Matthew J. Ferber, Madhuri R Hegde, Patti Krautscheid, Rondell P. Graham, Suma P. Shankar, Rong Mao
Publikováno v:
Genetics in Medicine. 23:1807-1817
Colorectal cancer (CRC) is the fourth most frequently diagnosed cancer and 30% of all cases of CRC are believed to have a familial component and up to one-third of these (10%) are hereditary. Pathogenic germline variants in multiple genes have been a
Autor:
Megan H. Cleveland, Shazia Mahamdallie, Brian H. Shirts, Stephen F. Kingsmore, Nazneen Rahman, Eric W. Klee, Farol L. Tomson, Swaroop Aradhya, Kathryn E. Hatchell, Wasanthi DeSilva, Sara L. Bristow, Tina Hambuch, Sheila Seal, Michael Kennemer, Matthew J. Ferber, Shimul Chowdhury, Peter M. Vallone, Andrew Fellowes, Russell Garlick, Justin M. Zook, Robert L. Nussbaum, Yan Ding, Rebecca Truty, Marc L. Salit, Catherine Huang, Stephen E. Lincoln
Publikováno v:
Genetics in Medicine
PurposeTo evaluate the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic tests. Such variants include large indels, small CNVs, complex alterations, and variants in lo
Autor:
Judith Bluvstein, Suneeta Madan-Khetarpal, Daniel Groepper, Theodore Sheehan, Michael J. Lyons, Louise Bier, Julie Fleischer, Annapurna Poduri, Lynn Pais, Pascal Joset, Elena Infante, Evan H. Baugh, David Goldstein, Tristan T. Sands, Katharina Steindl, Pim Suwannarat, Cyril Mignot, Boris Keren, Matthew J. Ferber, Laura Schultz-Rogers, Natalie Lippa, Linda Hasadsri, Vinodh Narayanan, Maureen S. Mulhern, Alejandra Vasquez, Claudia A. L. Ruivenkamp, Marleen Simon, Susan M. White, Vimla Aggarwal, Eric W. Klee, Kristine K. Bachman, Lindsay C. Burrage, Caroline Nava, Nicholas Stong, Neil A. Hanchard, Josephine S.C. Chong, Anita Rauch, Renee Bend, Erin L. Heinzen, Sulagna Kushary, Marije Koopmans, Marissa S. Ellingson, Keri Ramsey, Raymond Yeh, Michelle E. Ernst, Ellen van Binsbergen, Sarah S. Barnett, Amanda Thomas, Kristin G. Monaghan, Eva H. Brilstra, Magalie S. Leduc, Weimin Bi, Jennifer A. Lee, Cigdem I. Akman, Sophie Mathieu, Andrea H. Seeley, Grazia M. S. Mancini
Publikováno v:
Epilepsia
Epilepsia, 62(7), e103-e109. Wiley-Blackwell Publishing Ltd
Epilepsia, 62(7), E103-E109. WILEY
Epilepsia, 62(7), e103-e109. Wiley-Blackwell Publishing Ltd
Epilepsia, 62(7), E103-E109. WILEY
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and
Autor:
Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga
Publikováno v:
Genetics in Medicine. 25:100359
Purpose Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a
Autor:
Marc S. Greenblatt, Deborah I. Ritter, Matthew J. Ferber, Jennifer McGlaughon, Kristy Lee, Ryan J. Schmidt, Bryony A. Thompson, Bryce A. Seifert, Maegan E. Roberts, Liying Zhang, Mackenzie Trapp, Sharisse Jimenez, Sarah A. Jackson, Sharon E. Plon, Zsofia K. Stadler, Kenneth Offit
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity framework. Methods: Forty-two gene-disease pairs were assessed for strength of evidence supp
Autor:
Sarah T. South, Hyunseok Kang, James T. Lu, Matthew J. Ferber, David P. Bick, Kimberly A. Strong, Elissa Levin, Jill M. Hagenkord
Publikováno v:
The Journal of Molecular Diagnostics. 21:3-12
The increasing quality and diminishing cost of next-generation sequencing has transformed our ability to interrogate large quantities of genetic information. This has led to a dramatic increase in the number of elective genomic tests performed. In th
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)
Autor:
Nicole J. Boczek, Erik C. Thorland, Thuy Nguyen, Ralitza H. Gavrilova, Linda Hasadsri, Zhiyv Niu, Carrie A. Lahner, Matthew J. Ferber
Publikováno v:
American Journal of Medical Genetics Part A. 176:2798-2802
Wolf-Hirschhorn syndrome (WHS) is a microdeletion syndrome characterized by distinctive facial features consisting of "Greek warrior helmet" appearance, prenatal and postnatal growth deficiency, developmental disability, and seizures. This disorder i
Autor:
Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M. Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julian A. Martinez-Agosto, Outi Kuismin, Mitja I. Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana S. Johnson, Katja Venborg Pedersen, Lone W. Laulund, Sally A. Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier
Publikováno v:
Genetics in Medicine, 21, 2723. Lippincott Williams and Wilkins
Genetics in medicine, 21(12), 2723-2733. Lippincott Williams and Wilkins
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z
Genetics in Medicine, 21(12), 2723-2733. Lippincott Williams & Wilkins
Genetics in Medicine, 21, 2723-2733
Genetics in Medicine, 21(12), 2723-2733. Nature Publishing Group
Genetics in Medicine, 21, 12, pp. 2723-2733
Genetics in Medicine
Genetics in medicine, 21(12), 2723-2733. Lippincott Williams and Wilkins
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z
Genetics in Medicine, 21(12), 2723-2733. Lippincott Williams & Wilkins
Genetics in Medicine, 21, 2723-2733
Genetics in Medicine, 21(12), 2723-2733. Nature Publishing Group
Genetics in Medicine, 21, 12, pp. 2723-2733
Genetics in Medicine
PURPOSE: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). METHODS: Through international collaboration we collected data from 39 subjects with variants in CTCF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed9479b09188c08a5817cfef39764495
https://dspace.library.uu.nl/handle/1874/391976
https://dspace.library.uu.nl/handle/1874/391976