Header Logo

BLAKE VUOCOLO

Address1250 MOURSUND STREET
vCardDownload vCard

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. van Oirsouw ASE, Nedbalova P, Hancarova M, Prchal J, Prchalova D, Vlckova M, Bendova S, Monaghan KG, Dyer LM, Chen Y, Carere DA, Te Bogt EAM, Fisher H, Scheuerle AE, Riley S, Jain M, Mu W, Bodurtha JN, van Eerde AM, Stokman MF, Longo N, Balasubramanian M, Spiller M, Costain G, von der Lippe C, Tveten K, Jortveit M, Holla ?L, Isidor B, Cogn? B, Glinton KE, Vuocolo B, Sierra RA, Angle B, Bontempo K, Koop K, Rabin R, Pappas J, Staffenberg DA, Joset P, Miny P, Filges I, Alali A, Vitalone K, Rosenfeld JA, Bi W, Bradbrook S, Perrier R, Ramanathan S, Gold JA, Bralo MP, G?mez-Cano M?, Olney AH, Nielsen S, Ziegler A, Bonneau D, Prouteau C, Bruel AL, Caille-Benigni C, Lambert L, Yu AC, Robin NH, Goodloe D, Fischer J, Porrmann J, Hennig YD, Jamra RA, Herman I, Johnson IR, H?rissant L, Jouret G, van Gassen KLI, van Binsbergen E, van der Zwaag B, Kamermans A, Oegema R, Sedlacek Z, Fenckova M, van Jaarsveld RH, van Oirsouw ASE, Monaghan KG, Dyer LM, Chen Y, Carere DA, Te Bogt EAM, Fisher H, Scheuerle AE, Riley S, Jain M, Mu W, Bodurtha JN, van Eerde AM, Stokman MF, Longo N, Balasubramanian M, Spiller M, Isidor B, Cogn? B, Glinton KE, Vuocolo B, Sierra RA, Angle B, Bontempo K, Koop K, Rabin R, Pappas J, Staffenberg DA, Alali A, Vitalone K, Rosenfeld JA, Bi W, Ramanathan S, Gold JA, Palomares Bralo M, ?ngeles G?mez-Cano M, Olney AH, Nielsen S, Bruel AL, Caille-Benigni C, Lambert L, Robin NH, Goodloe D, Fischer J, Porrmann J, Abou Jamra R, Herman I, Johnson IR, van Gassen KLI, van Binsbergen E, van der Zwaag B, Kamermans A, Oegema R, van Jaarsveld RH. Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder. Genet Med. 2025 Aug 13; 27(11):101555. PMID: 40819229.
      Citations:    Fields:    
    2. Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Garcia N, Berry L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR. Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas. J Neurodev Disord. 2024 Sep 09; 16(1):52. PMID: 39251895; PMCID: PMC11382520.
      Citations: 1     Fields:    Translation:Humans
    3. Chettle J, Louie RJ, Larner O, Best R, Chen K, Morris J, Dedeic Z, Childers A, Rogers RC, DuPont BR, Skinner C, K?ry S, Uguen K, Planes M, Monteil D, Li M, Eliyahu A, Greenbaum L, Mor N, Besnard T, Isidor B, Cogn? B, Blesson A, Comi A, Wentzensen IM, Vuocolo B, Lalani SR, Sierra R, Berry L, Carter K, Sanders SJ, Blagden SP, Louie RJ, Larner O, Best R, Chen K, Childers A, Rogers RC, DuPont BR, Skinner C, K?ry S, Monteil D, Li M, Greenbaum L, Mor N, Besnard T, Isidor B, Cogn? B, Blesson A, Comi A, Vuocolo B, Lalani SR, Sierra R, Berry L, Carter K, Sanders SJ, Blagden SP. LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder. HGG Adv. 2024 Oct 10; 5(4):100345. PMID: 39182167; PMCID: PMC11418108.
      Citations:    Fields:    Translation:Humans
    4. German RJ, Vuocolo B, Vossaert L, Saba L, Fletcher R, Tedder ML, Sadikovic B, Kerkhof J, Wangler M, Bacino CA, Texome Project. Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. Am J Med Genet A. 2025 Jan; 197(1):e63849. PMID: 39166703; PMCID: PMC11637962.
      Citations: 1     Fields:    Translation:Humans
    5. Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Texome Project, Owen N, Vossaert L, Liu P, Bellen H, Wangler M, Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102. PMID: 38431799; PMCID: PMC11161315.
      Citations:    Fields:    Translation:Humans
    6. German RJ, Vuocolo B, Vossaert L, Owen N, Lewis RA, Saba L, Texome Project, Wangler MF, Nagamani S. Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss. Mol Genet Genomic Med. 2024 Feb; 12(2):e2404. PMID: 38404254; PMCID: PMC10895382.
      Citations: 1     Fields:    Translation:Humans
    7. Vuocolo B, Gutierrez AM, Robinson JO, Recinos AM, Desrosiers LR, Majumder MA, Bernini JC, Gill J, Griffin T, Tomlinson GE, Vallance K, McGuire AL, Parsons DW, Plon SE, Scollon S. Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle". J Genet Couns. 2024 Dec; 33(6):1337-1350. PMID: 38225886; PMCID: PMC11247135.
      Citations:    Fields:    
    8. Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Berry L, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR. Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement. Res Sq. 2023 Dec 13. PMID: 38168160; PMCID: PMC10760238.
      Citations:    
    9. Ford CP, Littlejohn RO, German R, Vuocolo B, Aceves J, Vossaert L, Owen N, Wangler M, Schmid CA, Texome Project. Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population. Mol Genet Genomic Med. 2023 12; 11(12):e2272. PMID: 37614148; PMCID: PMC10724509.
      Citations: 1     Fields:    Translation:Humans
    10. Vuocolo B, Holder JL. Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical Neurogenesis. Neuron. 2020 05 06; 106(3):357-358. PMID: 32380046.
      Citations:    Fields:    Translation:Humans
    11. Laghaei R, Ma J, Tarr TB, Homan AE, Kelly L, Tilvawala MS, Vuocolo BS, Rajasekaran HP, Meriney SD, Dittrich M. Transmitter release site organization can predict synaptic function at the neuromuscular junction. J Neurophysiol. 2018 04 01; 119(4):1340-1355. PMID: 29357458; PMCID: PMC5966726.
      Citations: 6     Fields:    Translation:AnimalsCells
    VUOCOLO's Networks
    Click the
    Explore
    buttons for more information and interactive visualizations!
    Concepts (56)
    Explore
    _
    Co-Authors (28)
    Explore
    _
    Similar People (60)
    Explore
    _