7 results on '"Pillalamarri V"'
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2. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Author
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Redin, C. (Claire), Brand, H. (Harrison), Collins, R.L. (Ryan L.), Kammin, T. (Tammy), Mitchell, E. (Elyse), Hodge, J.C. (Jennelle C.), Hanscom, C. (Carrie), Pillalamarri, V. (Vamsee), Seabra, C.M. (Catarina M.), Abbott, M.-A. (Mary-Alice), Abdul-Rahman, O.A. (Omar), Aberg, E. (Erika), Adley, R. (Rhett), Alcaraz-Estrada, S.L. (Sofia L.), Alkuraya, F.S. (Fowzan S), An, Y. (Yu), Anderson, M.-A. (Mary-Anne), Antolik, C. (Caroline), Anyane-Yeboa, K. (Kwame), Atkin, J.F. (Joan), Bartell, T. (Tina), Bernstein, J.A. (Jonathan A.), Beyer, E. (Elizabeth), Blumenthal, I. (Ian), Bongers, E. (Ernie), Brilstra, E.H. (Eva H.), Brown, C.W. (Chester W.), Brüggenwirth, H.T. (Hennie), Callewaert, L., Chiang, C. (Colby), Corning, K. (Ken), Cox, H. (H.), Cuppen, E. (Edwin), Currall, B.B. (Benjamin B.), Cushing, T. (Tom), David, D. (Dezso), Deardorff, M.A. (Matthew), Dheedene, A. (Annelies), D'Hooghe, M. (Marc), Vries, B. (Boukje) de, Earl, D.L. (Dawn L.), Ferguson, H.L. (Heather L.), Fisher, H. (Heather), Fitzpatrick, D.R. (David R.), Gerrol, P. (Pamela), Giachino, D. (Daniela), Glessner, J.T. (Joseph T.), Gliem, T. (Troy), Grady, M. (Margo), Graham, B.H. (Brett H.), Griffis, C. (Cristin), Gripp, K.W. (Karen), Gropman, A.L. (Andrea L.), Hanson-Kahn, A. (Andrea), Harris, D.J. (David J.), Hayden, M.A. (Mark A.), Hill, R. (Rosamund), Hochstenbach, R. (Ron), Hoffman, J.D. (Jodi D.), Hopkin, R., Hubshman, M.W. (Monika W.), Innes, M., Irons, M. (Mira), Irving, M. (Melita), Jacobsen, J.C. (Jessie C.), Janssens, S. (Sandra), Jewett, T. (Tamison), Johnson, J.P. (John P.), Jongmans, M.C.J. (Marjolijn), Kahler, S.G. (Stephen G.), Koolen, D.A. (David), Korzelius, J. (Jerome), Kroisel, P. (Peter), Lacassie, Y. (Yves), Lawless, W. (William), Lemyre, E. (Emmanuelle), Leppig, K. (Kathy), Levin, A.V. (Alex V.), Li, H. (Haibo), Li, H. (Hong), Liao, E.C. (Eric C.), Lim, C. (Cynthia), Lose, E.J. (Edward J.), Lucente, D. (Diane), MacEra, M.J. (Michael J.), Manavalan, P. (Poornima), Mandrile, G. (Giorgia), Marcelis, C.L.M. (Carlo), Margolin, L. (Lauren), Mason, T. (Tamara), Masser-Frye, D. (Diane), McClellan, M.W. (Michael W.), Zepeda Mendoza, C.J. (Cinthya J.), Menten, B., Middelkamp, S. (Sjors), Mikami, L.R. (Liya R.), Moe, E. (Emily), Mohammed, S. (Shabaz), Mononen, T. (Tarja), Mortenson, M.E. (Megan E.), Moya, G. (Graciela), Nieuwint, A.W. (Aggie W.), Ordulu, Z. (Zehra), Parkash, S. (Sandhya), Pauker, S.P. (Susan P.), Pereira, S. (Shahrin), Perrin, D. (Danielle), Phelan, K. (Katy), Piña Aguilar, R.E. (Raul E.), Poddighe, P. (Pino), Pregno, G. (Giulia), Raskin, S. (Salmo), Reis, L. (Linda), Rhead, W. (William), Rita, D. (Debra), Renkens, I. (Ivo), Roelens, F. (Filip), Ruliera, J. (Jayla), Rump, P. (Patrick), Schilit, S.L.P. (Samantha L.P.), Shaheen, R. (Ranad), Sparkes, R. (Rebecca), Spiegel, E. (Erica), Stevens, B. (Blair), Stone, M.R. (Matthew R.), Tagoe, J. (Julia), Thakuria, J.V. (Joseph V.), Bon, B. (Bregje) van, van de Kamp, J.M. (Jiddeke M.), Van Der Burgt, I. (Ineke), Essen, T. (Ton) van, Ravenswaaij-Arts, C.M.A. (Conny) van, Van Roosmalen, M.J. (Markus J.), Vergult, S. (Sarah), Volker-Touw, C.M.L. (Catharina M.L.), Warburton, D. (Dorothy), Waterman, M.J. (Matthew J.), Wiley, S. (Susan), Wilson, A. (Anna), Yerena-De Vega, M.D.L.C.A. (Maria De La Concepcion A), Zori, R.T. (Roberto T.), Levy, B. (Brynn), Brunner, H.G. (Han), Leeuw, N. (Nicole) de, Kloosterman, W.P. (Wigard), Thorland, E.C. (Erik C.), Morton, C.C. (Cynthia), Gusella, J.F. (James), Talkowski, M.E. (Michael E.), Redin, C. (Claire), Brand, H. (Harrison), Collins, R.L. (Ryan L.), Kammin, T. (Tammy), Mitchell, E. (Elyse), Hodge, J.C. (Jennelle C.), Hanscom, C. (Carrie), Pillalamarri, V. (Vamsee), Seabra, C.M. (Catarina M.), Abbott, M.-A. (Mary-Alice), Abdul-Rahman, O.A. (Omar), Aberg, E. (Erika), Adley, R. (Rhett), Alcaraz-Estrada, S.L. (Sofia L.), Alkuraya, F.S. (Fowzan S), An, Y. (Yu), Anderson, M.-A. (Mary-Anne), Antolik, C. (Caroline), Anyane-Yeboa, K. (Kwame), Atkin, J.F. (Joan), Bartell, T. (Tina), Bernstein, J.A. (Jonathan A.), Beyer, E. (Elizabeth), Blumenthal, I. (Ian), Bongers, E. (Ernie), Brilstra, E.H. (Eva H.), Brown, C.W. (Chester W.), Brüggenwirth, H.T. (Hennie), Callewaert, L., Chiang, C. (Colby), Corning, K. (Ken), Cox, H. (H.), Cuppen, E. (Edwin), Currall, B.B. (Benjamin B.), Cushing, T. (Tom), David, D. (Dezso), Deardorff, M.A. (Matthew), Dheedene, A. (Annelies), D'Hooghe, M. (Marc), Vries, B. (Boukje) de, Earl, D.L. (Dawn L.), Ferguson, H.L. (Heather L.), Fisher, H. (Heather), Fitzpatrick, D.R. (David R.), Gerrol, P. (Pamela), Giachino, D. (Daniela), Glessner, J.T. (Joseph T.), Gliem, T. (Troy), Grady, M. (Margo), Graham, B.H. (Brett H.), Griffis, C. (Cristin), Gripp, K.W. (Karen), Gropman, A.L. (Andrea L.), Hanson-Kahn, A. (Andrea), Harris, D.J. (David J.), Hayden, M.A. (Mark A.), Hill, R. (Rosamund), Hochstenbach, R. (Ron), Hoffman, J.D. (Jodi D.), Hopkin, R., Hubshman, M.W. (Monika W.), Innes, M., Irons, M. (Mira), Irving, M. (Melita), Jacobsen, J.C. (Jessie C.), Janssens, S. (Sandra), Jewett, T. (Tamison), Johnson, J.P. (John P.), Jongmans, M.C.J. (Marjolijn), Kahler, S.G. (Stephen G.), Koolen, D.A. (David), Korzelius, J. (Jerome), Kroisel, P. (Peter), Lacassie, Y. (Yves), Lawless, W. (William), Lemyre, E. (Emmanuelle), Leppig, K. (Kathy), Levin, A.V. (Alex V.), Li, H. (Haibo), Li, H. (Hong), Liao, E.C. (Eric C.), Lim, C. (Cynthia), Lose, E.J. (Edward J.), Lucente, D. (Diane), MacEra, M.J. (Michael J.), Manavalan, P. (Poornima), Mandrile, G. (Giorgia), Marcelis, C.L.M. (Carlo), Margolin, L. (Lauren), Mason, T. (Tamara), Masser-Frye, D. (Diane), McClellan, M.W. (Michael W.), Zepeda Mendoza, C.J. (Cinthya J.), Menten, B., Middelkamp, S. (Sjors), Mikami, L.R. (Liya R.), Moe, E. (Emily), Mohammed, S. (Shabaz), Mononen, T. (Tarja), Mortenson, M.E. (Megan E.), Moya, G. (Graciela), Nieuwint, A.W. (Aggie W.), Ordulu, Z. (Zehra), Parkash, S. (Sandhya), Pauker, S.P. (Susan P.), Pereira, S. (Shahrin), Perrin, D. (Danielle), Phelan, K. (Katy), Piña Aguilar, R.E. (Raul E.), Poddighe, P. (Pino), Pregno, G. (Giulia), Raskin, S. (Salmo), Reis, L. (Linda), Rhead, W. (William), Rita, D. (Debra), Renkens, I. (Ivo), Roelens, F. (Filip), Ruliera, J. (Jayla), Rump, P. (Patrick), Schilit, S.L.P. (Samantha L.P.), Shaheen, R. (Ranad), Sparkes, R. (Rebecca), Spiegel, E. (Erica), Stevens, B. (Blair), Stone, M.R. (Matthew R.), Tagoe, J. (Julia), Thakuria, J.V. (Joseph V.), Bon, B. (Bregje) van, van de Kamp, J.M. (Jiddeke M.), Van Der Burgt, I. (Ineke), Essen, T. (Ton) van, Ravenswaaij-Arts, C.M.A. (Conny) van, Van Roosmalen, M.J. (Markus J.), Vergult, S. (Sarah), Volker-Touw, C.M.L. (Catharina M.L.), Warburton, D. (Dorothy), Waterman, M.J. (Matthew J.), Wiley, S. (Susan), Wilson, A. (Anna), Yerena-De Vega, M.D.L.C.A. (Maria De La Concepcion A), Zori, R.T. (Roberto T.), Levy, B. (Brynn), Brunner, H.G. (Han), Leeuw, N. (Nicole) de, Kloosterman, W.P. (Wigard), Thorland, E.C. (Erik C.), Morton, C.C. (Cynthia), Gusella, J.F. (James), and Talkowski, M.E. (Michael E.)
- Abstract
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA br
- Published
- 2017
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3. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
- Author
-
Redin, C., Brand, H., Collins, R., Kammin, T., Mitchell, E., Hodge, J.C., Hanscom, C., Pillalamarri, V., Seabra, C.M., Abbott, M.A., Abdul-Rahman, O.A., Aberg, E., Bongers, E.M.H.F., Vries, B.B.A. de, Koolen, D.A., Jongmans, M.C.J., Marcelis, C.L.M., Bon, B.W.M. van, Burgt, I. van der, Brunner, H.G., Leeuw, N. de, et al., Redin, C., Brand, H., Collins, R., Kammin, T., Mitchell, E., Hodge, J.C., Hanscom, C., Pillalamarri, V., Seabra, C.M., Abbott, M.A., Abdul-Rahman, O.A., Aberg, E., Bongers, E.M.H.F., Vries, B.B.A. de, Koolen, D.A., Jongmans, M.C.J., Marcelis, C.L.M., Bon, B.W.M. van, Burgt, I. van der, Brunner, H.G., Leeuw, N. de, and et al.
- Abstract
Contains fulltext : 169855.pdf (publisher's version ) (Closed access)
- Published
- 2017
4. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
- Author
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Redin, C., Brand, H., Collins, R., Kammin, T., Mitchell, E., Hodge, J.C., Hanscom, C., Pillalamarri, V., Seabra, C.M., Abbott, M.A., Abdul-Rahman, O.A., Aberg, E., Bongers, E.M.H.F., Vries, B.B.A. de, Koolen, D.A., Jongmans, M.C.J., Marcelis, C.L.M., Bon, B.W.M. van, Burgt, I. van der, Brunner, H.G., Leeuw, N. de, et al., Redin, C., Brand, H., Collins, R., Kammin, T., Mitchell, E., Hodge, J.C., Hanscom, C., Pillalamarri, V., Seabra, C.M., Abbott, M.A., Abdul-Rahman, O.A., Aberg, E., Bongers, E.M.H.F., Vries, B.B.A. de, Koolen, D.A., Jongmans, M.C.J., Marcelis, C.L.M., Bon, B.W.M. van, Burgt, I. van der, Brunner, H.G., Leeuw, N. de, and et al.
- Abstract
Contains fulltext : 169855.pdf (Publisher’s version ) (Open Access)
- Published
- 2017
5. Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements
- Author
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Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., Kloosterman, W.P., Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., and Kloosterman, W.P.
- Abstract
Contains fulltext : 139109.pdf (publisher's version ) (Open Access), Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements. We found that the rearrangements in both patients hit genes that are recurrently rearranged in cancer (ETV1, FOXP1, and microRNA cluster C19MC) and drive formation of fusion genes similar to those described in cancer. Subsequent analysis of a large set of 552 de novo germline genomic rearrangements underlying congenital disorders revealed enrichment for genes rearranged in cancer and overlap with somatic cancer breakpoints. Breakpoints of common (inherited) germline structural variations also overlap with cancer breakpoints but are depleted for cancer genes. We propose that the same genomic positions are prone to genomic rearrangements in germline and soma but that timing and context of breakage determines whether developmental defects or cancer are promoted.
- Published
- 2014
6. Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements
- Author
-
Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., Kloosterman, W.P., Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., and Kloosterman, W.P.
- Abstract
Contains fulltext : 139109.pdf (publisher's version ) (Open Access), Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements. We found that the rearrangements in both patients hit genes that are recurrently rearranged in cancer (ETV1, FOXP1, and microRNA cluster C19MC) and drive formation of fusion genes similar to those described in cancer. Subsequent analysis of a large set of 552 de novo germline genomic rearrangements underlying congenital disorders revealed enrichment for genes rearranged in cancer and overlap with somatic cancer breakpoints. Breakpoints of common (inherited) germline structural variations also overlap with cancer breakpoints but are depleted for cancer genes. We propose that the same genomic positions are prone to genomic rearrangements in germline and soma but that timing and context of breakage determines whether developmental defects or cancer are promoted.
- Published
- 2014
7. Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements
- Author
-
Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., Kloosterman, W.P., Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., and Kloosterman, W.P.
- Abstract
Contains fulltext : 139109.pdf (publisher's version ) (Open Access), Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements. We found that the rearrangements in both patients hit genes that are recurrently rearranged in cancer (ETV1, FOXP1, and microRNA cluster C19MC) and drive formation of fusion genes similar to those described in cancer. Subsequent analysis of a large set of 552 de novo germline genomic rearrangements underlying congenital disorders revealed enrichment for genes rearranged in cancer and overlap with somatic cancer breakpoints. Breakpoints of common (inherited) germline structural variations also overlap with cancer breakpoints but are depleted for cancer genes. We propose that the same genomic positions are prone to genomic rearrangements in germline and soma but that timing and context of breakage determines whether developmental defects or cancer are promoted.
- Published
- 2014
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