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Dubbs, Holly A.
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1

Utility of genome sequencing in exome‐negative pediatric pa..:

Nomakuchi, Tomoki T. ; Teferedegn, Eden Y. ; Li, Dong...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Expanding Genetic Counselor Roles: A Model for Global Resea..:

Muraresku, Colleen C. ; McCormick, Elizabeth M. ; Rockart, Lydia...
Genes.  15 (2024)  7 - p. 867 , 2024
Link: https://doi.org/10.3390/..
 
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3

A Case of INPP5E-Related Joubert Syndrome: Connecting Evolv..:

Kumar, Nankee ; Nomakuchi, Tomoki ; Vossough, Arastoo...
Pediatric Neurology.  145 (2023)  - p. 112-114 , 2023
Link: https://doi.org/10.1016/..
 
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4

Pathogenic variants inCASK: Expanding the genotype–phenotyp..:

Dubbs, Holly ; Ortiz‐Gonzalez, Xilma ; Marsh, Eric D.
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2617-2626 , 2022
Link: https://doi.org/10.1002/..
 
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5

ATP6V0C variants impair V-ATPase function causing a neurode..:

Mattison, Kari A ; Tossing, Gilles ; Mulroe, Fred...
Brain.  146 (2022)  4 - p. 1357-1372 , 2022
Link: https://doi.org/10.1093/..
 
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6

eP296: Familial MECP2 variants: a report of 4 affected fami..:

Dubbs, Holly ; Marsh, Eric ; O'Connor Prange, Erin
Genetics in Medicine.  24 (2022)  3 - p. S187-S188 , 2022
Link: https://doi.org/10.1016/..
 
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7

Semaphorin-Plexin Signaling: From Axonal Guidance to a New ..:

Steele, Jacqueline L. ; Morrow, Michelle M. ; Sarnat, Harvey B....
Pediatric Neurology.  126 (2022)  - p. 65-73 , 2022
Link: https://doi.org/10.1016/..
 
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8

Psychometric outcome measures in beta-propeller protein-ass..:

Gavazzi, Francesco ; Pierce, Samuel R. ; Vithayathil, Joseph...
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 26-32 , 2022
Link: https://doi.org/10.1016/..
 
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9

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A. ; Palomares, María...
Genetics in Medicine.  24 (2022)  11 - p. 2351-2366 , 2022
Link: https://doi.org/10.1016/..
 
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10

Late-Onset Aicardi-Goutières Syndrome: A Characterization o..:

Piccoli, Cara ; Bronner, Nowa ; Gavazzi, Francesco...
Pediatric Neurology.  115 (2021)  - p. 1-6 , 2021
Link: https://doi.org/10.1016/..
 
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11

Variants in GNAI1 cause a syndrome associated with variable..:

Muir, Alison M. ; Gardner, Jennifer F. ; van Jaarsveld, Richard H....
Genetics in Medicine.  23 (2021)  5 - p. 881-887 , 2021
Link: https://doi.org/10.1038/..
 
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12

Trisomy 9 mosaic syndrome: Sixteen additional patients with..:

Li, Mindy ; Glass, Jennifer ; Du, Xiaoli...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2374-2383 , 2021
Link: https://doi.org/10.1002/..
 
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13

Understanding the phenotypic spectrum of ASXL‐related disea..:

Cuddapah, Vishnu Anand ; Dubbs, Holly A. ; Adang, Laura...
American Journal of Medical Genetics Part A.  185 (2021)  6 - p. 1700-1711 , 2021
Link: https://doi.org/10.1002/..
 
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14

Randomized Clinical Trial of First‐Line Genome Sequencing i..:

Vanderver, Adeline ; Bernard, Geneviève ; Helman, Guy...
Annals of Neurology.  88 (2020)  2 - p. 264-273 , 2020
Link: https://doi.org/10.1002/..
 
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15

Phenotypic and Imaging Spectrum Associated With WDR45:

Adang, Laura A. ; Pizzino, Amy ; Malhotra, Alka...
Pediatric Neurology.  109 (2020)  - p. 56-62 , 2020
Link: https://doi.org/10.1016/..
 
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