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Faundes, Víctor
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1

WCN24-850 A complex pediatric case with homozygous IFT140 v..:

Krall, Paola ; Bayyad, Esperanza ; Poblete, Bárbara...
Kidney International Reports.  9 (2024)  4 - p. S334-S335 , 2024
Link: https://doi.org/10.1016/..
 
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2

Addressing diagnostic gaps and priorities of the global rar..:

Adams, David R. ; van Karnebeek, Clara D.M. ; Agulló, Sergi Beltran...
European Journal of Medical Genetics.  70 (2024)  - p. 104951 , 2024
Link: https://doi.org/10.1016/..
 
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3

Decoding complex inherited phenotypes in rare disorders: th..:

Poli, M. Cecilia ; Rebolledo-Jaramillo, Boris ; Lagos, Catalina...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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4

Discovery of novel genetic syndromes in Latin America: Oppo..:

Faundes, Víctor ; Repetto, Gabriela M. ; Valdivia, Leonardo E.
Genetics and Molecular Biology.  47 (2024)  suppl 1 - p. , 2024
Link: https://doi.org/10.1590/..
 
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5

Clustered variants in the 5′ coding region of TRA2B cause a..:

Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona...
Genetics in Medicine.  25 (2023)  4 - p. 100003 , 2023
Link: https://doi.org/10.1016/..
 
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6

Tissue mosaicism, FMR1 expression and intellectual function..:

Baker, Emma K. ; Arpone, Marta ; Bui, Minh...
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 357-369 , 2022
Link: https://doi.org/10.1002/..
 
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7

Clinical delineation, sex differences, and genotype–phenoty..:

Faundes, Víctor ; Goh, Stephanie ; Akilapa, Rhoda...
Genetics in Medicine.  23 (2021)  7 - p. 1202-1210 , 2021
Link: https://doi.org/10.1038/..
 
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8

Maple syrup urine disease: Characteristics of diagnosis and..:

Medina, María Fernanda ; Castro, Gabriela ; Falcon, Felipe...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  187 (2021)  3 - p. 373-380 , 2021
Link: https://doi.org/10.1002/..
 
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9

Impaired eIF5A function causes a Mendelian disorder that is..:

Faundes, Víctor ; Jennings, Martin D. ; Crilly, Siobhan...
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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10

FMR1 mRNA from full mutation alleles is associated with ABC..:

Baker, Emma K. ; Arpone, Marta ; Kraan, Claudine...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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11

Correction: A restricted spectrum of missense KMT2D variant..:

Cuvertino, Sara ; Hartill, Verity ; Colyer, Alice...
Genetics in Medicine.  22 (2020)  5 - p. 980 , 2020
Link: https://doi.org/10.1038/..
 
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12

A restricted spectrum of missense KMT2D variants cause a mu..:

Cuvertino, Sara ; Hartill, Verity ; Colyer, Alice...
Genetics in Medicine.  22 (2020)  5 - p. 867-877 , 2020
Link: https://doi.org/10.1038/..
 
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13

Incomplete silencing of full mutation alleles in males with..:

Baker, Emma K. ; Arpone, Marta ; Aliaga, Solange M....
Molecular Autism.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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14

Intellectual functioning and behavioural features associate..:

Baker, Emma K. ; Arpone, Marta ; Vera, Solange Aliaga...
Journal of Neurodevelopmental Disorders.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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15

A comparative analysis of KMT2D missense variants in Kabuki..:

Faundes, Víctor ; Malone, Geraldine ; Newman, William G..
Journal of Human Genetics.  64 (2018)  2 - p. 161-170 , 2018
Link: https://doi.org/10.1038/..
 
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