Dr. Hector Rodrigo Mendez is a Medical Geneticist from Argentina. Rodrigo completed a residency program in Medical Genetics at Centro Nacional de Genetica Medica – ANLIS (Buenos Aires, Argentina) and a Master’s program in Medical Molecular Biology at Buenos Aires University.

Rodrigo continued his scientific career at a German Genomic Start-up, working as a human geneticist and providing his experience in rare disorders, genomic data (WGS/WES/gene panels) analysis, variant interpretation, and its integration with a deep focus on genotype-phenotype correlation.

Rodrigo’s areas of expertise are rare disorders, NGS technology, Whole Genome Sequencing analysis, and ACMG interpretation guidelines, and his research aims are:

- Collection and analysis of clinical data through deep-learning phenotyping approaches.
- Multi-omic data integration to elucidate complex and rare genetic disorders.
- International collaborations to break down barriers to research participation amongst those who have been under-represented.

At Stanford University, under the supervision of Dr. Matthew Wheeler, he is conducting his postdoctoral research studies to achieve his scientific goals.

Honors & Awards

  • Advocacy Certificate for Human Genetics and Genomics Program, American Society of Human Genetics (2024)
  • The Milagros para Niños Observership Scholarship Award in Genetics, Boston Children´s Hospital – Harvard Medical School (2019)
  • The International School on Inherited Ataxias: from genetics to clinics Scholarship Award, IBRO (International Brain Research Organization) (2019)
  • The 13th International Congress of Inborn Errors of Metabolism Young Delegate Scholarship Award 2017, Latin American Society of Inborn Errors of Metabolism and Neonatal Screening. (2017)

Boards, Advisory Committees, Professional Organizations

  • Member, American College of Medical Genetics & Genomics (2023 - Present)
  • Member, American Society of Human Genetics (2023 - Present)
  • Member, European Society of Human Genetics (2023 - Present)

Stanford Advisors

All Publications

  • De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature Chen, Y., Dawes, R., Kim, H. C., Ljungdahl, A., Stenton, S. L., Walker, S., Lord, J., Lemire, G., Martin-Geary, A. C., Ganesh, V. S., Ma, J., Ellingford, J. M., Delage, E., D'Souza, E. N., Dong, S., Adams, D. R., Allan, K., Bakshi, M., Baldwin, E. E., Berger, S. I., Bernstein, J. A., Bhatnagar, I., Blair, E., Brown, N. J., Burrage, L. C., Chapman, K., Coman, D. J., Compton, A. G., Cunningham, C. A., D'Souza, P., Danecek, P., Délot, E. C., Dias, K. R., Elias, E. R., Elmslie, F., Evans, C. A., Ewans, L., Ezell, K., Fraser, J. L., Gallacher, L., Genetti, C. A., Goriely, A., Grant, C. L., Haack, T., Higgs, J. E., Hinch, A. G., Hurles, M. E., Kuechler, A., Lachlan, K. L., Lalani, S. R., Lecoquierre, F., Leitão, E., Fevre, A. L., Leventer, R. J., Liebelt, J. E., Lindsay, S., Lockhart, P. J., Ma, A. S., Macnamara, E. F., Mansour, S., Maurer, T. M., Mendez, H. R., Metcalfe, K., Montgomery, S. B., Moosajee, M., Nassogne, M. C., Neumann, S., O'Donoghue, M., O'Leary, M., Palmer, E. E., Pattani, N., Phillips, J., Pitsava, G., Pysar, R., Rehm, H. L., Reuter, C. M., Revencu, N., Riess, A., Rius, R., Rodan, L., Roscioli, T., Rosenfeld, J. A., Sachdev, R., Shaw-Smith, C. J., Simons, C., Sisodiya, S. M., Snell, P., St Clair, L., Stark, Z., Stewart, H. S., Tan, T. Y., Tan, N. B., Temple, S. E., Thorburn, D. R., Tifft, C. J., Uebergang, E., VanNoy, G. E., Vasudevan, P., Vilain, E., Viskochil, D. H., Wedd, L., Wheeler, M. T., White, S. M., Wojcik, M., Wolfe, L. A., Wolfenson, Z., Wright, C. F., Xiao, C., Zocche, D., Rubenstein, J. L., Markenscoff-Papadimitriou, E., Fica, S. M., Baralle, D., Depienne, C., MacArthur, D. G., Howson, J. M., Sanders, S. J., O'Donnell-Luria, A., Whiffin, N. 2024


    Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals where it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2 is highly expressed in the developing human brain, in contrast to RNU4-1 and other U4 homologs. Using RNA-sequencing, we show how 5' splice site usage is systematically disrupted in individuals with RNU4-2 variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 bp region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide.

    View details for DOI 10.1038/s41586-024-07773-7

    View details for PubMedID 38991538

  • Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease. Genes Delea, M., Massara, L. S., Espeche, L. D., Bidondo, M. P., Barbero, P., Oliveri, J., Brun, P., Fabro, M., Galain, M., Fernández, C. S., Taboas, M., Bruque, C. D., Kolomenski, J. E., Izquierdo, A., Berenstein, A., Cosentino, V., Martinoli, C., Vilas, M., Rittler, M., Mendez, R., Furforo, L., Liascovich, R., Groisman, B., Rozental, S., Dain, L. 2022; 13 (7)


    Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA) have a prevalence of 2.26/1000 births in newborns, while congenital heart diseases (CHD) are the most frequent CA with a prevalence of 4.06/1000 births. The aim of this study was to identify the genetic causes in Argentinian patients with MCA and isolated CHD. We recruited 366 patients (172 with MCA and 194 with isolated CHD) born between June 2015 and August 2019 at public hospitals. DNA from peripheral blood was obtained from all patients, while karyotyping was performed in patients with MCA. Samples from patients presenting conotruncal CHD or DiGeorge phenotype (n = 137) were studied using MLPA. Ninety-three samples were studied by array-CGH and 18 by targeted or exome next-generation sequencing (NGS). A total of 240 patients were successfully studied using at least one technique. Cytogenetic abnormalities were observed in 13 patients, while 18 had clinically relevant imbalances detected by array-CGH. After MLPA, 26 patients presented 22q11 deletions or duplications and one presented a TBX1 gene deletion. Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in KAT6B, SHH, MYH11, MYH7 and EP300 genes, are novel. Using an algorithm that combines molecular techniques with clinical and genetic assessment, we determined the genetic contribution in 27.5% of the analyzed patients.

    View details for DOI 10.3390/genes13071172

    View details for PubMedID 35885957

    View details for PubMedCentralID PMC9317700

  • Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing. Ophthalmic genetics Mendez, R., Iqbal, S., Vishnopolska, S., Martinez, C., Dibner, G., Aliano, R., Zaiat, J., Biagioli, G., Fernandez, C., Turjanski, A., Campbell, A. J., Mercado, G., Marti, M. A. 2021; 42 (3): 291-295


    Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR variants, some reduce but do not completely eliminate tyrosinase activity, allowing residual production of melanin and resulting in a contradictory assignment as either pathogenic or benign, preventing a precise clinical diagnostic.Materials and Methods: In the present work, we performed Whole Exome Sequencing and subsequent Sanger sequencing in a young male clinically diagnosed with OCA.Results: Whole-exome sequencing analysis revealed the identification of two variants in trans in TYR. The first, corresponds to a known pathogenic variant G47D, while the second S192Y, was considered a polymorphism due to its relatively high frequency in the European population.Conclusion: The lack of other pathogenic variants in TYR, the reported reduced enzymatic activity (ca. 40% respect to wt) for S192Y, together with the structural in-silico analysis strongly suggest that both reported variants are jointly disease-causing and that S192Y should be considered as likely pathogenic, especially when it is found in trans with a null variant.

    View details for DOI 10.1080/13816810.2021.1888129

    View details for PubMedID 33599182

  • A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome. Clinical dysmorphology Mendez, R., Delea, M., Dain, L., Rittler, M. 2020; 29 (1): 42-45

    View details for DOI 10.1097/MCD.0000000000000270

    View details for PubMedID 30921092