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Manshaei, Roozbeh
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1

Expanding the phenotypic spectrum of NOTCH1 variants: clini..:

Stanley, Kaitlin J. ; Kalbfleisch, Kelsey J. ; Moran, Olivia M....
European Journal of Human Genetics.  32 (2024)  7 - p. 795-803 , 2024
Link: https://doi.org/10.1038/..
 
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P218: SMAD6 variants in congenital heart disease:

Schwartz, Marci ; Moran, Olivia ; Chen, Xin...
Genetics in Medicine Open.  2 (2024)  - p. 101115 , 2024
Link: https://doi.org/10.1016/..
 
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3

Comprehensive whole-genome sequence analyses provide insigh..:

Fehlings, Darcy L. ; Zarrei, Mehdi ; Engchuan, Worrawat...
Nature Genetics.  56 (2024)  4 - p. 585-594 , 2024
Link: https://doi.org/10.1038/..
 
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4

P228: Molecular and clinical analyses of LRP1 and LRP2 vari..:

Chen, Xin ; Ding, Qiliang ; Manshaei, Roozbeh...
Genetics in Medicine Open.  2 (2024)  - p. 101125 , 2024
Link: https://doi.org/10.1016/..
 
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5

Embodied Machine Learning:

, In: Proceedings of the Eighteenth International Conference on Tangible, Embedded, and Embodied Interaction,
Bakogeorge, Alexander ; Imtiaz, Syeda Aniqa ; Abu Hantash, Nour.. - p. 1-12 , 2024
Link: https://dl.acm.org/doi/1..
 
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P474: Precision child health: Integrating a consultative ph..:

Cohn, Iris ; Moran, Olivia ; Stanley, Kaitlin...
Genetics in Medicine Open.  2 (2024)  - p. 101373 , 2024
Link: https://doi.org/10.1016/..
 
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7

P169: Characterizing the phenotypic spectrum and estimated ..:

Moran, Olivia ; Somerville, Cherith ; Reuter, Miriam...
Genetics in Medicine Open.  2 (2024)  - p. 101066 , 2024
Link: https://doi.org/10.1016/..
 
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8

A call for increased inclusivity and global representation ..:

Kennedy, April ; Ma, Gabriel ; Manshaei, Roozbeh...
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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9

O07: Haploinsufficiency of EIF3A and EIF3B cause a clinical..:

Somerville, Cherith ; Erkut, Ersa ; Schwartz, Marci...
Genetics in Medicine Open.  2 (2024)  - p. 101469 , 2024
Link: https://doi.org/10.1016/..
 
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10

Whole Genome Sequencing to Resolve the Genomic Architecture..:

Oskoui, Maryam ; Zarrei, Mehdi ; Engchuan, Worrawat...
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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11

Gene copy number variation and pediatric mental health/neur..:

Zarrei, Mehdi ; Burton, Christie L ; Engchuan, Worrawat...
Human Molecular Genetics.  32 (2023)  15 - p. 2411-2421 , 2023
Link: https://doi.org/10.1093/..
 
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12

Tangible Chromatin: Tangible and Multi-surface Interactions..:

Manshaei, Roozbeh ; Mayat, Uzair ; Imtiaz, Syeda Aniqa...
Proceedings of the ACM on Human-Computer Interaction.  6 (2022)  - p. 51-72 , 2022
Link: https://doi.org/10.1145/..
 
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13

SCIP: software for efficient clinical interpretation of cop..:

Ding, Qiliang ; Somerville, Cherith ; Manshaei, Roozbeh...
Human Genetics.  142 (2022)  2 - p. 201-216 , 2022
Link: https://doi.org/10.1007/..
 
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14

Trio genome sequencing for developmental delay and pediatri..:

Jegathisawaran, Jathishinie ; Tsiplova, Kate ; Hayeems, Robin Z....
Genetics in Medicine.  24 (2022)  5 - p. 1027-1036 , 2022
Link: https://doi.org/10.1016/..
 
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15

GeneTerpret: a customizable multilayer approach to genomic ..:

Manshaei, Roozbeh ; DeLong, Sean ; Andric, Veronica...
BMC Medical Genomics.  15 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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