The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali...
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
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Brand, Harrison , Kammin, Tammy , Mitchell, Elyse , Hodge, Jennelle C , Hanscom, Carrie , Pillalamarri, Vamsee , Alkuraya, Fowzan S , Anderson, Mary-Anne , Antolik, Caroline , Anyane-Yeboa, Kwame , Bernstein, Jonathan A , Blumenthal, Ian , Bongers, Ernie M H F , Brown, Chester W , Brüggenwirth, Hennie T , Callewaert, Bert , Cox, Helen , Cuppen, Edwin , Currall, Benjamin B , Cushing, Tom , David, Dezso , Deardorff, Matthew A , Dheedene, Annelies , D'Hooghe, Marc , Earl, Dawn L , Ferguson, Heather L , FitzPatrick, David R , Gerrol, Pamela , Giachino, Daniela , Gliem, Troy , Griffis, Cristin , Gripp, Karen W , Gropman, Andrea L , Hanson-Kahn, Andrea , Harris, David J , Hill, Rosamund , Hoffman, Jodi D , Hopkin, Robert J , Hubshman, Monika W , Irons, Mira , Irving, Melita , Jacobsen, Jessie C , Janssens, Sandra , Jewett, Tamison , Johnson, John P , Koolen, David A , Lawless, William , Lemyre, Emmanuelle , Leppig, Kathleen , Levin, Alex V , Li, Hong , Liao, Eric C , Lose, Edward J , Lucente, Diane , Manavalan, Poornima , Mandrile, Giorgia , Marcelis, Carlo L , Masser-Frye, Diane , McClellan, Michael W , Menten, Björn , Middelkamp, Sjors , Moe, Emily , Mohammed, Shehla , Mononen, Tarja , Mortenson, Megan E , Moya, Graciela , Ordulu, Zehra , Parkash, Sandhya , Pauker, Susan P , Pereira, Shahrin , Perrin, Danielle , Phelan, Katy , Aguilar, Raul E Piña , Poddighe, Pino J , Pregno, Giulia , Raskin, Salmo , Reis, Linda , Rhead, William , Rita, Debra , Renkens, Ivo , Ruliera, Jayla , Schilit, Samantha L P , Shaheen, Ranad , Sparkes, Rebecca , Spiegel, Erica , Stevens, Blair , Tagoe, Julia , Thakuria, Joseph V , van de Kamp, Jiddeke , van Essen, Ton , van Ravenswaaij-Arts, Conny M , van Roosmalen, Markus J , Vergult, Sarah , Volker-Touw, Catharina M L , Wilson, Anna , Yerena-de Vega, Maria de la Concepcion A , Zori, Roberto T , Kloosterman, Wigard P , Morton, Cynthia C and Talkowski, Michael E
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical outcomes for balanced rearrangements and provides insight into pathogenic mechanisms such as altered gene regulation due to changes in chromo...
Alternative Titles
Full title
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Authors, Artists and Contributors
Author / Creator
Kammin, Tammy
Mitchell, Elyse
Hodge, Jennelle C
Hanscom, Carrie
Pillalamarri, Vamsee
Alkuraya, Fowzan S
Anderson, Mary-Anne
Antolik, Caroline
Anyane-Yeboa, Kwame
Bernstein, Jonathan A
Blumenthal, Ian
Bongers, Ernie M H F
Brown, Chester W
Brüggenwirth, Hennie T
Callewaert, Bert
Cox, Helen
Cuppen, Edwin
Currall, Benjamin B
Cushing, Tom
David, Dezso
Deardorff, Matthew A
Dheedene, Annelies
D'Hooghe, Marc
Earl, Dawn L
Ferguson, Heather L
FitzPatrick, David R
Gerrol, Pamela
Giachino, Daniela
Gliem, Troy
Griffis, Cristin
Gripp, Karen W
Gropman, Andrea L
Hanson-Kahn, Andrea
Harris, David J
Hill, Rosamund
Hoffman, Jodi D
Hopkin, Robert J
Hubshman, Monika W
Irons, Mira
Irving, Melita
Jacobsen, Jessie C
Janssens, Sandra
Jewett, Tamison
Johnson, John P
Koolen, David A
Lawless, William
Lemyre, Emmanuelle
Leppig, Kathleen
Levin, Alex V
Li, Hong
Liao, Eric C
Lose, Edward J
Lucente, Diane
Manavalan, Poornima
Mandrile, Giorgia
Marcelis, Carlo L
Masser-Frye, Diane
McClellan, Michael W
Menten, Björn
Middelkamp, Sjors
Moe, Emily
Mohammed, Shehla
Mononen, Tarja
Mortenson, Megan E
Moya, Graciela
Ordulu, Zehra
Parkash, Sandhya
Pauker, Susan P
Pereira, Shahrin
Perrin, Danielle
Phelan, Katy
Aguilar, Raul E Piña
Poddighe, Pino J
Pregno, Giulia
Raskin, Salmo
Reis, Linda
Rhead, William
Rita, Debra
Renkens, Ivo
Ruliera, Jayla
Schilit, Samantha L P
Shaheen, Ranad
Sparkes, Rebecca
Spiegel, Erica
Stevens, Blair
Tagoe, Julia
Thakuria, Joseph V
van de Kamp, Jiddeke
van Essen, Ton
van Ravenswaaij-Arts, Conny M
van Roosmalen, Markus J
Vergult, Sarah
Volker-Touw, Catharina M L
Wilson, Anna
Yerena-de Vega, Maria de la Concepcion A
Zori, Roberto T
Kloosterman, Wigard P
Morton, Cynthia C
Talkowski, Michael E
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5307971
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5307971
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3720
