V. Faundes

发表

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

[Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities].

V. Faundes, P. Morales, M. Alliende, 2017, Revista medica de Chile.

[Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2].

Pablo I Alarcón, V. Faundes, R. Pardo, 2021, Andes pediatrica : revista Chilena de pediatria.

Raine syndrome: an overview.

V. Faundes, A. Crosby, B. Chioza, 2014, European journal of medical genetics.

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

V. Faundes, M. Field, D. Francis, 2022, American journal of medical genetics. Part A.

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

S. A. Vera, V. Faundes, Alexandra Ure, 2019, Journal of Neurodevelopmental Disorders.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Carol J. Saunders, C. Saunders, W. Newman, 2021, Nature communications.

Patients With Fragile X Syndrome Attending a Specialized Centre in Chile: Parent Satisfaction, Costs and Adherence

V. Faundes, P. Morales, S. Aliaga, 2018 .

Appendiceal endometriosis differentially diagnosed from acute appendicitis.

V. Faundes, G. Astroza, C. Rodríguez, 2010, Chinese medical journal.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations

V. Faundes, P. Morales, S. Aliaga, 2016, Journal of Applied Genetics.

Hemoperitoneum secondary to bleeding of a hepatic metastasis of testicular carcinoma

V. Faundes, G. Astroza, J. Calderón, 2011, Central European Journal of Urology.

Clinical, molecular, and pharmacological aspects of FMR1 related disorders.

V. Faundes, S. Aliaga, Á. Pugin, 2017 .

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

S. A. Vera, V. Faundes, Alexandra Ure, 2019, Journal of Neurodevelopmental Disorders.

Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation

V. Faundes, P. Morales, B. Curotto, 2016, Molecular Syndromology.

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome

V. Faundes, Alexandra Ure, M. Field, 2020, Scientific Reports.

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

V. Faundes, K. Cornish, M. Field, 2019, Molecular Autism.

FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.

V. Faundes, P. Morales, S. Aliaga, 2016, Genetics research.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Carol J. Saunders, C. Saunders, A. Fry, 2021, Nature Communications.

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.

V. Faundes, D. Francis, D. Amor, 2016, Clinical chemistry.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Colin A. Johnson, Vagheesh M. Narasimhan, A. Barton, 2020, Genetics in Medicine.

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

W. Newman, V. Faundes, S. Banka, 2018, Journal of Human Genetics.

Ibero–American Consensus on Low- and No-Calorie Sweeteners: Safety, Nutritional Aspects and Benefits in Food and Beverages

A. Drewnowski, C. la Vecchia, F. Bellisle, 2018, Nutrients.

[Genetics of congenital deafness].

V. Faundes, R. Pardo, S. Castillo Taucher, 2012, Medicina clinica.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

Letter to the Editor: How Spermidine and Targeting Eukaryotic Initiator Factor 5A Might Help to Both a Novel Congenital Disorder and Brain Aging.

V. Faundes, 2023, Journal of medicinal food.

Biological Basis of Human Mate Choice: The Triple A Theory

V. Faundes, Andrea Pardo, 2010 .

Molecular classes in 209 patients with Prader–Willi or Angelman syndromes: Lessons for genetic counseling

V. Faundes, S. Aliaga, Á. Pugin, 2015, American journal of medical genetics. Part A.

Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile

V. Faundes, J. Cabello, C. Arias, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.