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by Redin, Claire and Brand, Harrison and Collins, Ryan L and Kammin, Tammy and Mitchell, Elyse and Hodge, Jennelle C and Hanscom, Carrie and Pillalamarri, Vamsee and Seabra, Catarina M and Abbott, Mary Alice and Abdul-Rahman, Omar A and Aberg, Erika and Adley, Rhett and Alcaraz-Estrada, Sofia L and Alkuraya, Fowzan S and An, Yu and Anderson, Mary Anne and Antolik, Caroline and Anyane-Yeboa, Kwame and Atkin, Joan F and Bartell, Tina and Bernstein, Jonathan A and Beyer, Elizabeth and Blumenthal, Ian and Bongers, Ernie M.H.F and Brilstra, Eva H and Brown, Chester W and Brüggenwirth, Hennie T and Callewaert, Bert and Chiang, Colby and Corning, Ken and Cox, Helen and Cuppen, Edwin and Currall, Benjamin B and Cushing, Tom and David, Dezso and Deardorff, Matthew A and Dheedene, Annelies and D'Hooghe, Marc and De Vries, Bert B.A and Earl, Dawn L and Ferguson, Heather L and Fisher, Heather and FitzPatrick, David R and Gerrol, Pamela and Giachino, Daniela and Glessner, Joseph T and Gliem, Troy and Grady, Margo and Graham, Brett H and Griffis, Cristin and Gripp, Karen W and Gropman, Anea L and Hanson-Kahn, Anea and Harris, David J and Hayden, Mark A and Hill, Rosamund and Hochstenbach, Ron and Hoffman, Jodi D and Hopkin, Robert J and Hubshman, Monika W and Innes, A. Micheil and Irons, Mira and Irving, Melita and Jacobsen, Jessie C and Janssens, Sana and Jewett, Tamison and Johnson, John P and Jongmans, Marjolijn C and Kahler, Stephen G and Koolen, David A and Korzelius, Jerome and Kroisel, Peter M and Lacassie, Yves and Lawless, William and Lemyre, Emmanuelle and Leppig, Kathleen and Levin, Alex V and Li, Haibo and Li, Hong and Liao, Eric C and Lim, Cynthia and Lose, Edward J and Lucente, Diane and MacEra, Michael J and Manavalan, Poornima and Manile, Giorgia and Marcelis, Carlo L and Margolin, Lauren and Mason, Tamara and Masser-Frye, Diane and McClellan, Michael W and Zepeda Mendoza, Cinthya J and Menten, Björn and Middelkamp, Sjors and Mikami, Liya R and Moe, Emily and Mohammed, Shehla and Mononen, Tarja and Mortenson, Megan E and ...
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 36 - 45
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution.... 
Genetics
Journal Article
Genome Research, ISSN 1088-9051, 04/2015, Volume 25, Issue 6, pp. 792 - 801
textabstractSmall insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease.... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, p. 651
Chromothripsis represents an extreme class of complex chromosome rearrangements ( CCRs) with major effects on chromosomal architecture. Although recent studies... 
GERMLINE | Research Support, Non-U.S. Gov't | COMPLEX CHROMOSOMAL REARRANGEMENTS | Journal Article
Journal Article
Nature Communications [E], ISSN 2041-1723, 11/2017, Volume 8, Issue 1, pp. 1 - 13
Despite improvements in genomics technology, the detection of structural variants (SVs) from short-read sequencing still poses challenges, particularly for... 
Journal Article | PERSONAL GENOME | GERMLINE | VARIANTS | ALIGNMENT | MULTIDISCIPLINARY SCIENCES | COMPLEXITY | GENERATION | CHROMOTHRIPSIS | REARRANGEMENTS | PAIRED-END | DISCOVERY | Breakpoints | Abnormalities | Computer applications | Exploration | Genomes | Mapping | Genetic diversity | Porosity | Variation | Gene mapping | Gene sequencing | Phasing
Journal Article
Journal Article
by Redin, C and Brand, H and Collins, R.L and Kammin, T and Mitchell, E and Hodge, J.C and Hanscom, C and Pillalamarri, V and Seabra, C.M and Abbott, M.-A and Abdul-Rahman, Omar and Aberg, E and Adley, R and Alcaraz-Estrada, S.L and Alkuraya, Fowzan S and An, Y and Anderson, M.-A and Antolik, C and Anyane-Yeboa, K and Atkin, Joan and Bartell, T and Bernstein, J.A and Beyer, E and Blumenthal, I and Bongers, Ernie and Brilstra, E.H and Brown, C.W and Brüggenwirth, Hennie and Callewaert, L and Chiang, C and Corning, K and Cox, H and Cuppen, Edwin and Currall, B.B and Cushing, Tom and David, D and Deardorff, Matthew and Dheedene, Annelies and D'Hooghe, Marc and Vries, Boukje and Earl, D.L and Ferguson, H.L and Fisher, H and Fitzpatrick, David R and Gerrol, P and Giachino, D and Glessner, J.T and Gliem, T and Grady, M and Graham, B.H and Griffis, C and Gripp, Karen and Gropman, A.L and Hanson-Kahn, A and Harris, D.J and Hayden, M.A and Hill, R and Hochstenbach, R and Hoffman, J.D and Hopkin, R and Hubshman, M.W and Innes, M and Irons, M and Irving, M and Jacobsen, J.C and Janssens, Sana and Jewett, T and Johnson, J.P and Jongmans, Marjolijn and Kahler, Stephen G and Koolen, David and Korzelius, J and Kroisel, Peter and Lacassie, Y and Lawless, W and Lemyre, E and Leppig, Kathy and Levin, A.V and Li, H and Liao, E.C and Lim, C and Lose, E.J and Lucente, D and MacEra, M.J and Manavalan, P and Manile, G and Marcelis, Carlo and Margolin, L and Mason, T and Masser-Frye, Diane and McClellan, M.W and Zepeda Mendoza, C.J and Menten, B and Middelkamp, S and Mikami, L.R and Moe, E and Mohammed, Shabaz and Mononen, T and Mortenson, M.E and Moya, G and ...
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2016, Volume 126, Issue 8, pp. 2881 - 2892
Journal Article
Nature Medicine, ISSN 1078-8956, 05/2019, Volume 25, Issue 5, pp. 838 - 838
Journal Article
Journal Article
Molecular cancer research : MCR, ISSN 1541-7786, 01/2020, p. molcanres.0529.2019
Fusion genes can be oncogenic drivers in a variety of cancer types and represent potential targets for targeted therapy. The BRAF gene is frequently involved... 
Journal Article