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Bryn D Webb
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1

Contributors:

, In: Genomics in the Clinic,
Albokhari, Daniah ; Ayoubieh, Houriya ; Balwani, Manisha... - p. xv-xviii , 2024
Link: https://doi.org/10.1016/..
 
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2

An algorithm to identify patients aged 0–3 with rare geneti..:

Webb, Bryn D. ; Lau, Lisa Y. ; Tsevdos, Despina...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

P606: Finding answers for clinical exome-negative patients:..:

Meyn, Stephen ; Webb, Bryn ; Pavelek, Derek...
Genetics in Medicine Open.  2 (2024)  - p. 101512 , 2024
Link: https://doi.org/10.1016/..
 
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4

Oral Health-Related Quality of Life in Rare Disorders of Co..:

Liberton, Denise K. ; Almpani, Konstantinia ; Mishra, Rashmi...
International Journal of Environmental Research and Public Health.  21 (2024)  5 - p. 615 , 2024
Link: https://doi.org/10.3390/..
 
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5

Metabolic Cases: Lactic Acidosis:

, In: Genomics in the Clinic,
Webb, Bryn D. ; Vernon, Hilary J. - p. 307-309 , 2024
Link: https://doi.org/10.1016/..
 
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6

Recessive pathogenic variants in MCAT cause combined oxidat..:

Nowinski, Sara M ; Webb, Bryn D ; Solmonson, Ashley...
eLife.  12 (2023)  - p. , 2023
Link: https://doi.org/10.7554/..
 
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7

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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8

Novel biallelic variants expand the phenotype of NAA20‐rela..:

D'Onofrio, Gianluca ; Cuccurullo, Claudia ; Larsen, Silje Kathrine...
Clinical Genetics.  104 (2023)  3 - p. 371-376 , 2023
Link: https://doi.org/10.1111/..
 
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9

Inability to move one's face dampens facial expression perc..:

Japee, Shruti ; Jordan, Jessica ; Licht, Judith...
Cortex.  169 (2023)  - p. 35-49 , 2023
Link: https://doi.org/10.1016/..
 
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10

Monozygotic twins discordant for a congenital cranial dysin..:

Gates, Ryan W. ; Webb, Bryn D. ; Stevenson, David A....
American Journal of Medical Genetics Part A.  191 (2023)  11 - p. 2743-2748 , 2023
Link: https://doi.org/10.1002/..
 
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11

eP322: Comparison of genetic ancestry to self-reported ethn..:

Birch, Ashley ; Machado, Moara ; Webb, Bryn...
Genetics in Medicine.  24 (2022)  3 - p. S201 , 2022
Link: https://doi.org/10.1016/..
 
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12

A novel deleterious ETFA promoter variant causative of mult..:

Prasun, Pankaj ; Evans, Anthony ; Cork, Emalyn..
American Journal of Medical Genetics Part A.  191 (2022)  4 - p. 1089-1093 , 2022
Link: https://doi.org/10.1002/..
 
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13

eP312: Exon level array utility in follow up to identificat..:

Aptekar, Leslie ; Lagoe, Erin Caine ; Shaw, Jay...
Genetics in Medicine.  24 (2022)  3 - p. S196-S197 , 2022
Link: https://doi.org/10.1016/..
 
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14

A framework for the evaluation of patients with congenital ..:

Webb, Bryn D. ; Manoli, Irini ; Engle, Elizabeth C..
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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15

Biallelic loss-of-function variants in KCNJ16 presenting wi..:

Webb, Bryn D. ; Hotchkiss, Hilary ; Prasun, Pankaj..
European Journal of Human Genetics.  29 (2021)  10 - p. 1566-1569 , 2021
Link: https://doi.org/10.1038/..
 
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