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VanNoy, Grace E.
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1

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L. ; O'Leary, Melanie C. ; Lemire, Gabrielle...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Advancing Understanding of Inequities in Rare Disease Genom..:

Serrano, Jillian G. ; O'Leary, Melanie ; VanNoy, Grace E....
Clinical Therapeutics.  45 (2023)  8 - p. 745-753 , 2023
Link: https://doi.org/10.1016/..
 
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3

Emerging roles and opportunities for rare disease patient a..:

Patterson, Amy M. ; O'Boyle, Megan ; VanNoy, Grace E..
Therapeutic Advances in Rare Disease.  4 (2023)  - p. , 2023
Link: https://doi.org/10.1177/..
 
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4

Wide range of phenotypic severity in individuals with late ..:

Keehan, Laura ; Haviland, Isabel ; Gofin, Yoel...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3516-3524 , 2022
Link: https://doi.org/10.1002/..
 
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5

seqr: A web‐based analysis and collaboration tool for rare ..:

Pais, Lynn S. ; Snow, Hana ; Weisburd, Ben...
Human Mutation.  , 2022
Link: https://doi.org/10.1002/..
 
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6

Delineation of a novel neurodevelopmental syndrome associat..:

Gofin, Yoel ; Wang, Tianyun ; Gillentine, Madelyn A....
Human Mutation.  43 (2022)  4 - p. 461-470 , 2022
Link: https://doi.org/10.1002/..
 
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7

KCND2 variants associated with global developmental delay d..:

Zhang, Yongqiang ; Tachtsidis, Georgios ; Schob, Claudia...
Human Molecular Genetics.  30 (2021)  23 - p. 2300-2314 , 2021
Link: https://doi.org/10.1093/..
 
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8

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
Neuron.  109 (2021)  2 - p. 241-256.e9 , 2021
Link: https://doi.org/10.1016/..
 
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9

Reconsidering Genetic Testing for Neonatal Polycystic Kidne..:

VanNoy, Grace E. ; Wojcik, Monica H. ; Genetti, Casie A....
Kidney International Reports.  5 (2020)  8 - p. 1316-1319 , 2020
Link: https://doi.org/10.1016/..
 
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10

Quantifying Downstream Healthcare Utilization in Studies of..:

Mackay, Zoë P. ; Dukhovny, Dmitry ; Phillips, Kathryn A....
Value in Health.  23 (2020)  5 - p. 559-565 , 2020
Link: https://doi.org/10.1016/..
 
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11

De novo variants in MPP5 cause global developmental delay a..:

Sterling, Noelle ; Duncan, Anna R ; Park, Raehee...
Human Molecular Genetics.  29 (2020)  20 - p. 3388-3401 , 2020
Link: https://doi.org/10.1093/..
 
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12

Prospective, phenotype-driven selection of critically ill n..:

Gubbels, Cynthia S. ; VanNoy, Grace E. ; Madden, Jill A....
Genetics in Medicine.  22 (2020)  4 - p. 736-744 , 2020
Link: https://doi.org/10.1038/..
 
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13

Parental interest in genomic sequencing of newborns: enroll..:

Genetti, Casie A. ; Schwartz, Talia S. ; Robinson, Jill O....
Genetics in Medicine.  21 (2019)  3 - p. 622-630 , 2019
Link: https://doi.org/10.1038/..
 
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14

Infant mortality: the contribution of genetic disorders:

Wojcik, Monica H. ; Schwartz, Talia S. ; Thiele, Katri E....
Journal of Perinatology.  39 (2019)  12 - p. 1611-1619 , 2019
Link: https://doi.org/10.1038/..
 
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15

De novo variant of TRRAP in a patient with very early onset..:

Mavros, Chrystal F. ; Brownstein, Catherine A. ; Thyagrajan, Roshni...
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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