Karla Pena Guerra

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5 Article

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy
Altassan, R., AlQudairy, H., AlJebreen, S., AlMuhaizea, M., Al-Hindi, H., Pena-Guerra, K. A., Ghebeh, H., Almzroua, A., Albakheet, A., AlDosary, M., Colak, D., Arold, S. T. & Kaya, N., 2023, (Accepted/In press) In: American Journal of Medical Genetics, Part A. 194, 4, e63498.
Research output: Contribution to journal › Article › peer-review
1 Scopus citations
Leveraging AI Advances and Online Tools for Structure-Based Variant Analysis
Guzmán-Vega, F. J., González-Álvarez, A. C., Peña-Guerra, K. A., Cardona-Londoño, K. J. & Arold, S. T., Aug 2023, In: Current Protocols. 3, 8, e857.
Research output: Contribution to journal › Article › peer-review

Open Access
2 Scopus citations
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome
Aboheimed, G. I., AlRasheed, M. M., Almudimeegh, S., Peña-Guerra, K. A., Cardona-Londoño, K. J., Salih, M. A., Seidahmed, M. Z., Al-Mohanna, F., Colak, D., Harvey, R. J., Harvey, K., Arold, S. T., Kaya, N. & Ruiz, A. J., Jul 2022, In: Journal of Biological Chemistry. 298, 7, 102018.
Research output: Contribution to journal › Article › peer-review

Open Access
3 Scopus citations
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures
Khan, A., Bruno, L. P., Alomar, F., Umair, M., Pinto, A. M., Khan, A. A., Khan, A., Saima, Fabbiani, A., Zguro, K., Furini, S., Mencarelli, M. A., Renieri, A., Resciniti, S., Peña-Guerra, K. A., Guzmán-Vega, F. J., Arold, S. T., Ariani, F. & Khan, S. N., Jun 17 2022, In: Frontiers in Molecular Neuroscience. 15, 877258.
Research output: Contribution to journal › Article › peer-review

Open Access
11 Scopus citations
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts, M. J. A., Lanko, K., Guzmán-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londoño, K. J., Peña-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., Kehoe, C. M., Robinson, H. K., Pang, L., Banu, S. H., Zaman, M., Efthymiou, S., Houlden, H. & Järvelä, I. & 78 others, Lauronen, L., Määttä, T., Schrauwen, I., Leal, S. M., Ruivenkamp, C. A. L., Barge-Schaapveld, D. Q. C. M., Peeters-Scholte, C. M. P. C. D., Galehdari, H., Mazaheri, N., Sisodiya, S. M., Harrison, V., Sun, A., Thies, J., Pedroza, L. A., Lara-Taranchenko, Y., Chinn, I. K., Lupski, J. R., Garza-Flores, A., McGlothlin, J., Yang, L., Huang, S., Wang, X., Jewett, T., Rosso, G., Lin, X., Mohammed, S., Merritt, J. L., Mirzaa, G. M., Timms, A. E., Scheck, J., Elting, M. W., Polstra, A. M., Schenck, L., Ruzhnikov, M. R. Z., Vetro, A., Montomoli, M., Guerrini, R., Koboldt, D. C., Mosher, T. M., Pastore, M. T., McBride, K. L., Peng, J., Pan, Z., Willemsen, M., Koning, S., Turnpenny, P. D., de Vries, B. B. A., Gilissen, C., Pfundt, R., Lees, M., Braddock, S. R., Klemp, K. C., Vansenne, F., van Gijn, M. E., Quindipan, C., Deardorff, M. A., Hamm, J. A., Putnam, A. M., Baud, R., Walsh, L., Lynch, S. A., Baptista, J., Person, R. E., Monaghan, K. G., Crunk, A., Keller-Ramey, J., Reich, A., Elloumi, H. Z., Alders, M., Kerkhof, J., McConkey, H., Haghshenas, S., Consortium, G. E. R., Maroofian, R., Sadikovic, B., Banka, S., Barakat, T. S. & Barakat, T. S., Aug 4 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics.
Research output: Contribution to journal › Article › peer-review
23 Scopus citations

Karla Pena Guerra

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Collaborations and top research areas from the last five years

Dive into details

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy

Leveraging AI Advances and Online Tools for Structure-Based Variant Analysis

Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Karla Pena Guerra

Fingerprint

Collaborations and top research areas from the last five years

Research output

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy

Leveraging AI Advances and Online Tools for Structure-Based Variant Analysis

Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.