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Diana Brightman
24  results:
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1

P274: Expansion of the phenotype in Rubinstein-Taybi syndro..:

Qu'd, Dima ; Lander, Julie ; Brightman, Diana.
Genetics in Medicine Open.  1 (2023)  1 - p. 100302 , 2023
Link: https://doi.org/10.1016/..
 
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2

Insights into the genotype–phenotype relationship of ocular..:

Shah, Suraj S. ; Fulton, Anne ; Jabroun, Mireille...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1325-1338 , 2023
Link: https://doi.org/10.1002/..
 
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3

eP248: Impact of DNA methylation signature exploration for ..:

Gittens, Olivia ; Qu'd, Dima ; Tolusso, Leandra...
Genetics in Medicine.  24 (2022)  3 - p. S157-S158 , 2022
Link: https://doi.org/10.1016/..
 
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4

eP131: High prevalence of bony abnormalities in patients wi..:

Gittens, Olivia ; Brightman, Diana ; Qu'd, Dima...
Genetics in Medicine.  24 (2022)  3 - p. S82 , 2022
Link: https://doi.org/10.1016/..
 
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5

Clinico-biological refinement of BCL11B-related disorder an..:

Sabbagh, Quentin ; Haghshenas, Sadegheh ; Piard, Juliette...
Genetics in Medicine.  26 (2024)  1 - p. 101007 , 2024
Link: https://doi.org/10.1016/..
 
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6

Detection of a novel gross deletion in the UNC13D gene ends..:

Nagaraj, Chinmayee B. ; Brightman, Diana S. ; Rea, Hannah...
BMC Pediatrics.  24 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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7

Behavioral and neuropsychiatric challenges across the lifes..:

Qu'd, Dima ; Schmitt, Lauren M. ; Leston, Amber...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

Clinically available testing options resulting in diagnosis..:

Baker, Elizabeth K. ; Ulm, Elizabeth A. ; Belonis, Alyce...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Systemic and ocular manifestations of a patient with mosaic..:

Miraldi Utz, Virginia ; Brightman, Diana S. ; Sandoval, Monica A...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  184 (2020)  3 - p. 644-655 , 2020
Link: https://doi.org/10.1002/..
 
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10

Mosaic variegated aneuploidy syndrome caused by a CEP57 mut..:

Brightman, Diana S. ; Ejaz, Sehar ; Dauber, Andrew
Clinical Case Reports.  6 (2018)  8 - p. 1531-1534 , 2018
Link: https://doi.org/10.1002/..
 
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11

MLL1 is essential for retinal neurogenesis and horizontal i..:

Brightman, Diana S. ; Grant, Rachel L. ; Ruzycki, Philip A....
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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12

Nrl‐Cre transgenic mouse mediates loxP recombination in dev..:

Brightman, Diana S. ; Razafsky, David ; Potter, Chloe..
genesis.  54 (2016)  3 - p. 129-135 , 2016
Link: https://doi.org/10.1002/..
 
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13

P274: Expansion of the phenotype in Rubinstein-Taybi syndro..:

Dima Qu'd ; Julie Lander ; Diana Brightman.
http://www.sciencedirect.com/science/article/pii/S2949774423003023.  , 2023
Link: https://doi.org/10.1016/..
 
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14

Detection of a novel gross deletion in the UNC13D gene ends..:

Chinmayee B. Nagaraj ; Diana S. Brightman ; Hannah Rea...
https://doi.org/10.1186/s12887-023-04510-3.  , 2024
Link: https://doi.org/10.1186/..
 
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15

Behavioral and neuropsychiatric challenges across the lifes..:

Dima Qu'd ; Lauren M. Schmitt ; Amber Leston...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1116919/full.  , 2023
Link: https://doi.org/10.3389/..
 
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