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Sanchis‐Juan, Alba
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1

Biallelic Mutations of TBC1D24 in Exercise‐Induced Paroxysm..:

Steel, Dora ; Heim, Jennifer ; Kruer, Michael C....
Movement Disorders.  35 (2020)  2 - p. 372-373 , 2020
Link: https://doi.org/10.1002/..
 
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2

Structural analysis of pathogenic missense mutations in GAB..:

Sanchis‐Juan, Alba ; Hasenahuer, Marcia A. ; Baker, James A....
Molecular Genetics & Genomic Medicine.  8 (2020)  7 - p. , 2020
Link: https://doi.org/10.1002/..
 
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3

Multiple GYPB gene deletions associated with the U− phenoty..:

Lane, William J. ; Gleadall, Nicholas S. ; Aeschlimann, Judith...
Transfusion.  60 (2020)  6 - p. 1294-1307 , 2020
Link: https://doi.org/10.1111/..
 
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4

Myoclonus‐dystonia caused by GNB1 mutation responsive to de..:

Jones, Hannah F. ; Morales‐Briceño, Hugo ; Barwick, Katy...
Movement Disorders.  34 (2019)  7 - p. 1079-1080 , 2019
Link: https://doi.org/10.1002/..
 
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5

O11: An atlas of 1.2M structural variants across global pop..:

Brand, Harrison ; Zhao, Xuefang ; Fu, Jack...
Genetics in Medicine Open.  2 (2024)  - p. 101015 , 2024
Link: https://doi.org/10.1016/..
 
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6

P575: The Rare Genomes Project: Improving access to genomic..:

Austin-Tse, Christina ; DiTroia, Stephanie ; O'Leary, Melanie...
Genetics in Medicine Open.  2 (2024)  - p. 101481 , 2024
Link: https://doi.org/10.1016/..
 
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7

Author Correction: GATK-gCNV enables the discovery of rare ..:

Babadi, Mehrtash ; Fu, Jack M. ; Lee, Samuel K....
Nature Genetics.  56 (2024)  3 - p. 553-553 , 2024
Link: https://doi.org/10.1038/..
 
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8

Narrowing the diagnostic gap: Genomes, episignatures, long-..:

Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah...
Genetics in Medicine.  26 (2024)  5 - p. 101076 , 2024
Link: https://doi.org/10.1016/..
 
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9

P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in ..:

Biddle, Joseph ; Campbell, Teresa ; Sanchis-Juan, Alba...
Genetics in Medicine Open.  2 (2024)  - p. 101136 , 2024
Link: https://doi.org/10.1016/..
 
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10

Exome copy number variant detection, analysis, and classifi..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
The American Journal of Human Genetics.  111 (2024)  5 - p. 863-876 , 2024
Link: https://doi.org/10.1016/..
 
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11

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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12

Improvement of large copy number variant detection by whole..:

Cuenca-Guardiola, Javier ; de la Morena-Barrio, Belén ; García, Juan L....
Journal of Advanced Research.  50 (2023)  - p. 145-158 , 2023
Link: https://doi.org/10.1016/..
 
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13

Phenotype and genetic analysis of data collected within the..:

Kipkemoi, Patricia ; Kim, Heesu Ally ; Christ, Bjorn...
Neuron.  111 (2023)  18 - p. 2800-2810.e5 , 2023
Link: https://doi.org/10.1016/..
 
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14

GATK-gCNV enables the discovery of rare copy number variant..:

Babadi, Mehrtash ; Fu, Jack M. ; Lee, Samuel K....
Nature Genetics.  55 (2023)  9 - p. 1589-1597 , 2023
Link: https://doi.org/10.1038/..
 
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15

Mapping the Constrained Coding Regions in the Human Genome ..:

Hasenahuer, Marcia A. ; Sanchis-Juan, Alba ; Laskowski, Roman A....
Journal of Molecular Biology.  435 (2023)  2 - p. 167892 , 2023
Link: https://doi.org/10.1016/..
 
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