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Surti, Urvashi
186  results:
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1

Deletion of conserved non‐coding sequences downstream from ..:

Liao, Jun ; Coffman, Keith A. ; Locker, Joseph...
Molecular Genetics & Genomic Medicine.  9 (2021)  4 - p. , 2021
Link: https://doi.org/10.1002/..
 
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2

Reproductive outcomes in carriers of chromosomal reciprocal..:

Verdoni, Angela ; Hu, Jie ; Surti, Urvashi...
Molecular Genetics and Metabolism.  132 (2021)  - p. S318 , 2021
Link: https://doi.org/10.1016/..
 
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3

Reproductive outcomes in individuals with chromosomal recip..:

Verdoni, Angela ; Hu, Jie ; Surti, Urvashi...
Genetics in Medicine.  23 (2021)  9 - p. 1753-1760 , 2021
Link: https://doi.org/10.1038/..
 
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4

Genomic regions associated with microdeletion/microduplicat..:

Mostovoy, Yulia ; Yilmaz, Feyza ; Chow, Stephen K...
Genetics.  217 (2021)  2 - p. , 2021
Link: https://doi.org/10.1093/..
 
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5

The structure, function and evolution of a complete human c..:

Logsdon, Glennis A. ; Vollger, Mitchell R. ; Hsieh, PingHsun...
Nature.  593 (2021)  7857 - p. 101-107 , 2021
Link: https://doi.org/10.1038/..
 
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6

Comprehensive analysis of 204 sporadic hydatidiform moles: ..:

Khawajkie, Yassemine ; Mechtouf, Nawel ; Nguyen, Ngoc Minh Phuong...
Modern Pathology.  33 (2020)  5 - p. 880-892 , 2020
Link: https://doi.org/10.1038/..
 
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7

Copy number alterations involving 59 ACMG‐recommended secon..:

Yatsenko, Svetlana A. ; Aarabi, Mahmoud ; Hu, Jie...
Clinical Genetics.  98 (2020)  6 - p. 577-588 , 2020
Link: https://doi.org/10.1111/..
 
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8

A novel NLRP7 protein-truncating mutation associated with d..:

Allias, Fabienne ; Mechtouf, Nawel ; Gaillot-Durand, Lucie...
Virchows Archiv.  477 (2020)  2 - p. 309-315 , 2020
Link: https://doi.org/10.1007/..
 
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9

Correction: Comprehensive analysis of 204 sporadic hydatidi..:

Khawajkie, Yassemine ; Mechtouf, Nawel ; Nguyen, Ngoc Minh Phuong...
Modern Pathology.  33 (2020)  6 - p. 1237 , 2020
Link: https://doi.org/10.1038/..
 
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10

Four children with postnatally diagnosed mosaic trisomy 12:..:

Hu, Jie ; Ou, Zhishuo ; Surti, Urvashi...
American Journal of Medical Genetics Part A.  182 (2020)  4 - p. 813-822 , 2020
Link: https://doi.org/10.1002/..
 
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11

Low-level BCR-ABL1 transcripts in individuals without overt..:

Leeman-Neill, Rebecca J. ; Swerdlow, Steven H. ; Burnes, Catherine L....
Leukemia Research.  81 (2019)  - p. 98-101 , 2019
Link: https://doi.org/10.1016/..
 
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12

Autism spectrum disorder in females with ARHGEF9 alteration..:

Aarabi, Mahmoud ; Kessler, Elena ; Madan-Khetarpal, Suneeta...
European Journal of Medical Genetics.  62 (2019)  4 - p. 239-242 , 2019
Link: https://doi.org/10.1016/..
 
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13

Improved assembly and variant detection of a haploid human ..:

Vollger, Mitchell R. ; Logsdon, Glennis A. ; Audano, Peter A....
Annals of Human Genetics.  84 (2019)  2 - p. 125-140 , 2019
Link: https://doi.org/10.1111/..
 
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14

Diploid/triploid mixoploidy: A consequence of asymmetric zy..:

Carson, Jason C. ; Hoffner, Lori ; Conlin, Laura...
American Journal of Medical Genetics Part A.  176 (2018)  12 - p. 2720-2732 , 2018
Link: https://doi.org/10.1002/..
 
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15

Phenotypic association of 15q11.2 CNVs of the region of bre..:

Mohan, K. Naga ; Cao, Ye ; Pham, Justin...
Journal of Human Genetics.  64 (2018)  3 - p. 253-255 , 2018
Link: https://doi.org/10.1038/..
 
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