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Year Number of Results
2018 2
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2020 3
2021 6
2022 1
2023 4
2024 1

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16 results

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Page 1
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Weerts MJA, et al. Among authors: guzman vega fj. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345025 Free PMC article.
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Khan A, Bruno LP, Alomar F, Umair M, Pinto AM, Khan AA, Khan A, Saima, Fabbiani A, Zguro K, Furini S, Mencarelli MA, Renieri A, Resciniti S, Peña-Guerra KA, Guzmán-Vega FJ, Arold ST, Ariani F, Khan SN. Khan A, et al. Among authors: guzman vega fj. Front Mol Neurosci. 2022 Jun 17;15:877258. doi: 10.3389/fnmol.2022.877258. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35782384 Free PMC article.
Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.
Bohlega S, Abusrair AH, Al-Qahtani Z, Guzmán-Vega FJ, Ramakrishnan R, Aldosari H, Aldakheel A, Al-Qahtani S, Monies D, Arold ST. Bohlega S, et al. Among authors: guzman vega fj. Parkinsonism Relat Disord. 2023 Mar;108:105323. doi: 10.1016/j.parkreldis.2023.105323. Epub 2023 Feb 13. Parkinsonism Relat Disord. 2023. PMID: 36805523
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
Alsaif HS, Alshehri A, Sulaiman RA, Al-Hindi H, Guzmán-Vega FJ, Arold ST, Alkuraya FS. Alsaif HS, et al. Among authors: guzman vega fj. Am J Med Genet A. 2021 Jul;185(7):2131-2135. doi: 10.1002/ajmg.a.62188. Epub 2021 Mar 23. Am J Med Genet A. 2021. PMID: 33755318
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network; Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J. Shashi V, et al. Among authors: guzman vega fj. EMBO J. 2018 Dec 3;37(23):e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12. EMBO J. 2018. PMID: 30420557 Free PMC article.
Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia.
Alghamdi M, Alhumsi TR, Altweijri I, Alkhamis WH, Barasain O, Cardona-Londoño KJ, Ramakrishnan R, Guzmán-Vega FJ, Arold ST, Ali G, Adly N, Ali H, Basudan A, Bakhrebah MA. Alghamdi M, et al. Among authors: guzman vega fj. Front Pediatr. 2021 Apr 16;9:582816. doi: 10.3389/fped.2021.582816. eCollection 2021. Front Pediatr. 2021. PMID: 33937142 Free PMC article.
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease.
Dasouki M, Alaiya A, ElAmin T, Shinwari Z, Monies D, Abouelhoda M, Jabaan A, Almourfi F, Rahbeeni Z, Alsohaibani F, Almohareb F, Al-Zahrani H, Guzmán Vega FJ, Arold ST, Aljurf M, Ahmed SO. Dasouki M, et al. Among authors: guzman vega fj. iScience. 2021 Feb 25;24(3):102214. doi: 10.1016/j.isci.2021.102214. eCollection 2021 Mar 19. iScience. 2021. PMID: 33748703 Free PMC article.
A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings.
Alghamdi MA, Mulla J, Saheb Sharif-Askari N, Guzmán-Vega FJ, Arold ST, Abd-Alwahed M, Alharbi N, Kashour T, Halwani R. Alghamdi MA, et al. Among authors: guzman vega fj. Front Immunol. 2021 Jan 8;11:599564. doi: 10.3389/fimmu.2020.599564. eCollection 2020. Front Immunol. 2021. PMID: 33488593 Free PMC article.
16 results