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chromosome rearrangements (4) 4
index medicus (4) 4
structural variation (4) 4
chromothripsis (3) 3
de-novo mutations (3) 3
developmental delay (3) 3
genomes (3) 3
humans (3) 3
intellectual disability (3) 3
journal article (3) 3
microdeletion syndrome (3) 3
of-function mutations (3) 3
severe mental-retardation (3) 3
autism (2) 2
autism spectrum disorder (2) 2
breakpoints (2) 2
cancer genomes (2) 2
chromosome aberrations (2) 2
dna sequencing (2) 2
gene rearrangement (2) 2
genetic predisposition to disease (2) 2
genetics (2) 2
genetics & heredity (2) 2
genomics (2) 2
inversion (2) 2
medical research (2) 2
mutation (2) 2
nucleotide sequencing (2) 2
prenatal-diagnosis (2) 2
abnormalities (1) 1
agxt gene (1) 1
alanine-glyoxylate aminotransferase (1) 1
alignment (1) 1
analysis (1) 1
autism spectrum disorder - genetics (1) 1
autism; chromoanagenesis; chromothripsis; complex chromosomal rearrangement; copynumber variation; germline mutation; inversion; neurodevelopmental disorders; structural variation; whole-genome sequencing; ecology, evolution, behavior and systematics; genetics; cell biology (1) 1
balanced chromosomal abnormality (1) 1
balanced chromosome rearrangements (1) 1
biotechnology & applied microbiology (1) 1
calcium-oxalate supersaturation (1) 1
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chromosomes (1) 1
combined liver-kidney (1) 1
combined liver-kidney transplantation (1) 1
combined liver–kidney transplantation, nephrocalcinosis, oxalosis, primary hyperoxaluria type 1, urolithiasis; genetic test (1) 1
complex chromosomal rearrangement (1) 1
complexity (1) 1
computer applications (1) 1
congenital abnormalities - genetics (1) 1
congenital anomaly (1) 1
congenital diseases (1) 1
consortia (1) 1
copy number variation (1) 1
copynumber variation (1) 1
cytogenetics (1) 1
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ecology, evolution, behavior and systematics (1) 1
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hyperoxaluria, primary - diagnosis (1) 1
hyperoxaluria, primary - metabolism (1) 1
hyperoxaluria, primary - therapy (1) 1
i primary hyperoxaluria (1) 1
intellectual disabilities (1) 1
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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
Nephrology, dialysis, transplantation, ISSN 0931-0509, 2012, Volume 27, Issue 5, pp. 1729 - 1736
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
Genome Biology, ISSN 1474-7596, 03/2017, Volume 18, Issue 1, p. 36
Journal Article
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 Bruggenwirth, 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 Mendoza, Cinthya J. Zepeda and Menten, Bjorn 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
Journal Article
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 Mendoza, Cinthya J Zepeda 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, p. 36–45
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution.... 
Journal Article
Journal Article
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
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 Bruggenwirth, 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 Mendoza, Cinthya J. Zepeda and Menten, Bjorn 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.... 
INTELLECTUAL DISABILITY | CHROMOSOME REARRANGEMENTS | DE-NOVO MUTATIONS | SEVERE MENTAL-RETARDATION | AUTISM SPECTRUM DISORDER | MICRODELETION SYNDROME | DEVELOPMENTAL DELAY | OF-FUNCTION MUTATIONS | STRUCTURAL VARIATION | CANCER GENOMES
Journal Article
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