E-LIB Suche - Ergebnisse für: Lamb, Allen N.

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44. Reevaluation of copy number variant (CNV) classificatio..:

Quigley, Denise I ; Lewis, Zoe K ; Tidwell, Timothy...
Cancer Genetics. 252-253 (2021) - p. S15 , 2021

Link: https://doi.org/10.1016/..

2

11. Validation and implementation of BioDot instruments for..:

Chandler, Brandon ; Zhou, Wenhua ; Longhurst, Maria...
Cancer Genetics. 252-253 (2021) - p. S4 , 2021

Link: https://doi.org/10.1016/..

3

Clinical and molecular cytogenetic characterization of a no..:

Herriges, John C. ; Dugan, Sarah L. ; Lamb, Allen N.
Molecular Cytogenetics. 12 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

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Delineating the Clinical Spectrum Associated With Xq25q26.2..:

Herriges, John C. ; Arch, Ellen M. ; Burgio, Pamela A....
Journal of Child Neurology. 34 (2018) 2 - p. 86-93 , 2018

Link: https://doi.org/10.1177/..

5

Yield of additional genetic testing after chromosomal micro..:

Waggoner, Darrel ; Wain, Karen E. ; Dubuc, Adrian M....
Genetics in Medicine. 20 (2018) 10 - p. 1105-1113 , 2018

Link: https://doi.org/10.1038/..

6

Copy number variant discrepancy resolution using the ClinGe..:

Riggs, Erin R. ; Nelson, Tristan ; Merz, Andrew...
Human Mutation. 39 (2018) 11 - p. 1650-1659 , 2018

Link: https://doi.org/10.1002/..

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Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autis..:

Bhat, Gifty ; LaGrave, Danielle ; Millson, Alison...
European Journal of Medical Genetics. 59 (2016) 9 - p. 470-473 , 2016

Link: https://doi.org/10.1016/..

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Y Chromosome Microdeletion Detection by Cytoscan HD Microar..:

Sederberg, Maria C. ; Rowe, Leslie R. ; Lamb, Allen N.
Cancer Genetics. 208 (2015) 6 - p. 359 , 2015

Link: https://doi.org/10.1016/..

9

Xq28 duplication overlapping the int22h‐1/int22h‐2 region a..:

Andersen, Erica F. ; Baldwin, Erin E. ; Ellingwood, Sara..
American Journal of Medical Genetics Part A. 164 (2014) 7 - p. 1795-1801 , 2014

Link: https://doi.org/10.1002/..

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Clinical features associated with copy number variations of..:

Rosenfeld, Jill A. ; Fox, Joyce E. ; Descartes, Maria...
American Journal of Medical Genetics Part A. 167 (2014) 2 - p. 345-353 , 2014

Link: https://doi.org/10.1002/..

11

Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a S..:

Shuvarikov, Andrey ; Campbell, Ian M. ; Dittwald, Piotr...
Human Mutation. 34 (2013) 10 - p. 1415-1423 , 2013

Link: https://doi.org/10.1002/..

12

8p23.1 duplication syndrome; common, confirmed, and novel f..:

Barber, John C.K. ; Rosenfeld, Jill A. ; Foulds, Nicola...
American Journal of Medical Genetics Part A. 161 (2013) 3 - p. 487-500 , 2013

Link: https://doi.org/10.1002/..

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MEF2C Haploinsufficiency features consistent hyperkinesis, ..:

Paciorkowski, Alex R. ; Traylor, Ryan N. ; Rosenfeld, Jill A....
neurogenetics. 14 (2013) 2 - p. 99-111 , 2013

Link: https://doi.org/10.1007/..

14

ACMG Standards and Guidelines for constitutional cytogenomi..:

South, Sarah T. ; Lee, Charles ; Lamb, Allen N...
Genetics in Medicine. 15 (2013) 11 - p. 901-909 , 2013

Link: https://doi.org/10.1038/..

15

Haploinsufficiency ofSOX5at 12p12.1 is associated with deve..:

Lamb, Allen N. ; Rosenfeld, Jill A. ; Neill, Nicholas J....
Human Mutation. 33 (2012) 4 - p. 728-740 , 2012

Link: https://doi.org/10.1002/..