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Estivill, Xavier
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1

Advancing diagnosis and research for rare genetic diseases ..:

Baynam, Gareth ; Julkowska, Daria ; Bowdin, Sarah...
Nature Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Author Correction: Disruption of chromatin folding domains ..:

Akdemir, Kadir C. ; Le, Victoria T. ; Chandran, Sahaana...
Nature Genetics.  55 (2023)  6 - p. 1079-1079 , 2023
Link: https://doi.org/10.1038/..
 
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3

Author Correction: Comprehensive analysis of chromothripsis..:

Cortés-Ciriano, Isidro ; Lee, Jake June-Koo ; Xi, Ruibin...
Nature Genetics.  55 (2023)  6 - p. 1076-1076 , 2023
Link: https://doi.org/10.1038/..
 
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4

Author Correction: Patterns of somatic structural variation..:

Li, Yilong ; Roberts, Nicola D. ; Wala, Jeremiah A....
Nature.  , 2023
Link: https://doi.org/10.1038/..
 
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5

Identification of autosomal cis expression quantitative tra..:

Ruiz-Arenas, Carlos ; Hernandez-Ferrer, Carles ; Vives-Usano, Marta...
eLife.  11 (2022)  - p. , 2022
Link: https://doi.org/10.7554/..
 
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6

Functional Characterization of the MYO6 Variant p.E60Q in N..:

Alkowari, Moza ; Espino-Guarch, Meritxell ; Daas, Sahar...
International Journal of Molecular Sciences.  23 (2022)  6 - p. 3369 , 2022
Link: https://doi.org/10.3390/..
 
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7

Changes in the stool and oropharyngeal microbiome in obsess..:

Domènech, Laura ; Willis, Jesse ; Alemany-Navarro, Maria...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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8

A population study of clinically actionable genetic variati..:

Jithesh, Puthen Veettil ; Abuhaliqa, Mohammed ; Syed, Najeeb...
npj Genomic Medicine.  7 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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9

Author Correction: Genomic footprints of activated telomere..:

Sieverling, Lina ; Hong, Chen ; Koser, Sandra D....
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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10

Genetic evaluation of cardiomyopathies in Qatar identifies ..:

Al‐Shafai, Kholoud N. ; Al‐Hashemi, Mohammed ; Manickam, Chidambaram...
Molecular Genetics & Genomic Medicine.  9 (2021)  7 - p. , 2021
Link: https://doi.org/10.1002/..
 
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11

Efficient and flexible Integration of variant characteristi..:

Susak, Hana ; Serra-Saurina, Laura ; Demidov, German...
PLOS Computational Biology.  17 (2021)  2 - p. e1007784 , 2021
Link: https://doi.org/10.1371/..
 
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12

Variability of multi-omics profiles in a population-based c..:

Gallego-Paüls, Marta ; Hernández-Ferrer, Carles ; Bustamante, Mariona...
BMC Medicine.  19 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Genome sequencing data analysis for rare disease gene disco..:

Umlai, Umm-Kulthum Ismail ; Bangarusamy, Dhinoth Kumar ; Estivill, Xavier.
Briefings in Bioinformatics.  23 (2021)  1 - p. , 2021
Link: https://doi.org/10.1093/..
 
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14

Actionable genomic variants in 6045 participants from the Q..:

Elfatih, Amal ; Mifsud, Borbala ; Syed, Najeeb...
Human Mutation.  42 (2021)  12 - p. 1584-1601 , 2021
Link: https://doi.org/10.1002/..
 
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15

Severe Autoinflammatory Manifestations and Antibody Deficie..:

Martín-Nalda, Andrea ; Fortuny, Claudia ; Rey, Lourdes...
Journal of Clinical Immunology.  40 (2020)  7 - p. 987-1000 , 2020
Link: https://doi.org/10.1007/..
 
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