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Barry, Brenda J
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1

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
Genetics in Medicine.  26 (2024)  6 - p. 101119 , 2024
Link: https://doi.org/10.1016/..
 
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2

Expanding the genetics and phenotypes of ocular congenital ..:

Jurgens, Julie A. ; Barry, Brenda J. ; Chan, Wai-Man...
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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3

TUBB3 and KIF21A in neurodevelopment and disease:

Puri, Dharmendra ; Barry, Brenda J. ; Engle, Elizabeth C.
Frontiers in Neuroscience.  17 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Noncoding variants alter GATA2 expression in rhombomere 4 m..:

Tenney, Alan P. ; Di Gioia, Silvio Alessandro ; Webb, Bryn D....
Nature Genetics.  55 (2023)  7 - p. 1149-1163 , 2023
Link: https://doi.org/10.1038/..
 
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5

TUBB3 Arg262His causes a recognizable syndrome including CF..:

Whitman, Mary C. ; Barry, Brenda J. ; Robson, Caroline D....
Human Genetics.  140 (2021)  12 - p. 1709-1731 , 2021
Link: https://doi.org/10.1007/..
 
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6

Optic Nerve Head and Retinal Abnormalities Associated with ..:

Thomas, Mervyn G. ; Maconachie, Gail D. E. ; Kuht, Helen J....
International Journal of Molecular Sciences.  22 (2021)  5 - p. 2575 , 2021
Link: https://doi.org/10.3390/..
 
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7

Novel variants in TUBA1A cause congenital fibrosis of the e..:

Jurgens, Julie A. ; Barry, Brenda J. ; Lemire, Gabrielle...
European Journal of Human Genetics.  29 (2021)  5 - p. 816-826 , 2021
Link: https://doi.org/10.1038/..
 
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8

Brain phenotyping in Moebius syndrome and other congenital ..:

Sadeghi, Neda ; Hutchinson, Elizabeth ; Van Ryzin, Carol...
Brain Communications.  2 (2020)  1 - p. , 2020
Link: https://doi.org/10.1093/..
 
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9

Decreased ACKR3 (CXCR7) function causes oculomotor synkines..:

Whitman, Mary C ; Miyake, Noriko ; Nguyen, Elaine H...
Human Molecular Genetics.  28 (2019)  18 - p. 3113-3125 , 2019
Link: https://doi.org/10.1093/..
 
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10

Phenotype delineation of ZNF462 related syndrome:

Kruszka, Paul ; Hu, Tommy ; Hong, Sungkook...
American Journal of Medical Genetics Part A.  179 (2019)  10 - p. 2075-2082 , 2019
Link: https://doi.org/10.1002/..
 
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11

Congenital monocular elevation deficiency associated with a..:

Thomas, Mervyn G ; Maconachie, Gail D E ; Constantinescu, Cris S...
British Journal of Ophthalmology.  104 (2019)  4 - p. 547-550 , 2019
Link: https://doi.org/10.1136/..
 
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12

MAGEL2‐related disorders: A study and case series:

Patak, Jameson ; Gilfert, James ; Byler, Melissa...
Clinical Genetics.  96 (2019)  6 - p. 493-505 , 2019
Link: https://doi.org/10.1111/..
 
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13

Outcomes of strabismus surgery in genetically confirmed con..:

Heidary, Gena ; Mackinnon, Sarah ; Elliott, Alexandra...
Journal of American Association for Pediatric Ophthalmology and Strabismus.  23 (2019)  5 - p. 253.e1-253.e6 , 2019
Link: https://doi.org/10.1016/..
 
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14

PSMD12 haploinsufficiency in a neurodevelopmental disorder ..:

Khalil, Raida ; Kenny, Connor ; Hill, R. Sean...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  177 (2018)  8 - p. 736-745 , 2018
Link: https://doi.org/10.1002/..
 
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15

Novel loss‐of‐function variants in DIAPH1 associated with s..:

Al‐Maawali, Almundher ; Barry, Brenda J. ; Rajab, Anna...
American Journal of Medical Genetics Part A.  170 (2015)  2 - p. 435-440 , 2015
Link: https://doi.org/10.1002/..
 
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