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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 150 - 158
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes— NIPBL , SMC1A , HDAC8 , SMC3 , and RAD21 .... 
Cornelia de Lange syndrome | NIPBL | underrepresented minorities | diverse populations | facial analysis technology | CdLS | FACIAL DYSMORPHOLOGY | REARRANGEMENTS | INDIVIDUALS | SYNDROME PHENOTYPE | DOWN-SYNDROME | GENETICS & HEREDITY | MUTATIONS | Data processing | Statistical analysis | Microencephaly | Nose
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2012, Volume 158A, Issue 9, pp. 2139 - 2151
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2016, Volume 24, Issue 5, pp. 652 - 659
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 8, pp. 1797 - 1807
Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including... 
speech delay | white matter paucity | USP7 | neurodevelopment | corpus callosum thinning | ABNORMALITIES | HAUSP | CHILDREN | P53 | CORPUS-CALLOSUM | GENETICS & HEREDITY | MUTATIONS | PRADER-WILLI-SYNDROME
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
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.... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2017, Volume 101, Issue 2, pp. 206 - 217
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2018, Volume 103, Issue 4, pp. 602 - 611
Journal Article
NPJ genomic medicine, ISSN 2056-7944, 2019, Volume 4, Issue 1, pp. 5 - 12
Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the "diagnostic odyssey". Patients in... 
Chromosomes | Genomes
Journal Article