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Ibañez, Kristina
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1

Repeat expansions in NOP56 are a cause of spinocerebellar a..:

Lam, Tanya ; Rocca, Clarissa ; Ibanez, Kristina...
Brain Communications.  5 (2023)  5 - p. , 2023
Link: https://doi.org/10.1093/..
 
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2

Unexpected frequency of the pathogenic AR CAG repeat expans..:

Zanovello, Matteo ; Ibáñez, Kristina ; Brown, Anna-Leigh...
Brain.  146 (2023)  7 - p. 2723-2729 , 2023
Link: https://doi.org/10.1093/..
 
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3

Functional genomics provide key insights to improve the dia..:

Chen, Zhongbo ; Tucci, Arianna ; Cipriani, Valentina...
Brain.  146 (2023)  7 - p. 2869-2884 , 2023
Link: https://doi.org/10.1093/..
 
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4

Whole genome sequencing for the diagnosis of neurological r..:

Ibañez, Kristina ; Polke, James ; Hagelstrom, R Tanner...
The Lancet Neurology.  21 (2022)  3 - p. 234-245 , 2022
Link: https://doi.org/10.1016/..
 
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5

REViewer: haplotype-resolved visualization of read alignmen..:

Dolzhenko, Egor ; Weisburd, Ben ; Ibañez, Kristina...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

Use of whole genome sequencing to determine genetic basis o..:

Schon, Katherine R ; Horvath, Rita ; Wei, Wei...
BMJ.  , 2021
Link: https://doi.org/10.1136/..
 
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7

Identification of a missense variant in SPDL1 associated wi..:

Dhindsa, Ryan S. ; Mattsson, Johan ; Nag, Abhishek...
Communications Biology.  4 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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8

Pathogenic Huntingtin Repeat Expansions in Patients with Fr..:

Dewan, Ramita ; Chia, Ruth ; Ding, Jinhui...
Neuron.  109 (2021)  3 - p. 448-460.e4 , 2021
Link: https://doi.org/10.1016/..
 
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9

Spectrum of mutational signatures in T-cell lymphoma reveal..:

Jones, Christine L. ; Degasperi, Andrea ; Grandi, Vieri...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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10

Molecular and histologic insights on early onset cardiomyop..:

Fernández, Luis ; Casamayor Polo, Laura ; Bravo García‐Morato, María...
Clinical Genetics.  99 (2020)  3 - p. 481-483 , 2020
Link: https://doi.org/10.1111/..
 
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11

Neuronal intranuclear inclusion disease is genetically hete..:

Chen, Zhongbo ; Yan Yau, Wai ; Jaunmuktane, Zane...
Annals of Clinical and Translational Neurology.  7 (2020)  9 - p. 1716-1725 , 2020
Link: https://doi.org/10.1002/..
 
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12

Transcriptomic metaanalyses of autistic brains reveals shar..:

Forés-Martos, Jaume ; Catalá-López, Ferrán ; Sánchez-Valle, Jon...
Molecular Autism.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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13

PanelApp crowdsources expert knowledge to establish consens..:

Martin, Antonio Rueda ; Williams, Eleanor ; Foulger, Rebecca E....
Nature Genetics.  51 (2019)  11 - p. 1560-1565 , 2019
Link: https://doi.org/10.1038/..
 
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14

ExpansionHunter: a sequence-graph-based tool to analyze var..:

Dolzhenko, Egor ; Deshpande, Viraj ; Schlesinger, Felix...
Bioinformatics.  35 (2019)  22 - p. 4754-4756 , 2019
Link: https://doi.org/10.1093/..
 
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15

Somatic activating mutations in PIK3CA cause generalized ly..:

Rodriguez-Laguna, Lara ; Agra, Noelia ; Ibañez, Kristina...
Journal of Experimental Medicine.  216 (2018)  2 - p. 407-418 , 2018
Link: https://doi.org/10.1084/..
 
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