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BRET BOSTWICK

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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    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.
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    1. Karaca E, Posey JE, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms FL, Meinecke P, Alawi M, Bacino CA, Sutton VR, Kortüm F, Lupski JR. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 Oct; 179(10):2056-2066. PMID: 31407851.
      View in: PubMed
    2. Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J. C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. N Engl J Med. 2019 07 04; 381(1):25-35. PMID: 31269546.
      View in: PubMed
    3. Chinn IK, Bostwick BL. The role of genomic approaches in diagnosis and management of primary immunodeficiency. Curr Opin Pediatr. 2018 12; 30(6):791-797. PMID: 30234646.
      View in: PubMed
    4. McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP. Schaaf-Yang syndrome overview: Report of 78 individuals. Am J Med Genet A. 2018 12; 176(12):2564-2574. PMID: 30302899.
      View in: PubMed
    5. Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142. PMID: 29805043.
      View in: PubMed
    6. Petersen AK, Streff H, Tokita M, Bostwick BL. The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. Am J Med Genet A. 2018 07; 176(7):1667-1669. PMID: 29740950.
      View in: PubMed
    7. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438. PMID: 28973083.
      View in: PubMed
    8. Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515. PMID: 28942966.
      View in: PubMed
    9. Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73. PMID: 28807008.
      View in: PubMed
    10. Bostwick B, Van den Veyver IB, Sutton VR. Focal Dermal Hypoplasia. 2008 May 15 [Updated 2016 Jul 21]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1543/. 2016.
    11. Miller MJ, Bostwick BL, Kennedy AD, Donti TR, Sun Q, Sutton VR, Elsea SH. Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions. JIMD Rep. 2016; 30:39-44. PMID: 26936850.
      View in: PubMed
    12. Bostwick B, Fang P, Patel A, Sutton VR. Cover Image, Volume 172C, Number 1, March 2016. Am J Med Genet C Semin Med Genet. 2016 Mar; 172(1):i. PMID: 27001928.
      View in: PubMed
    13. Bostwick B, Fang P, Patel A, Sutton VR. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):9-20. PMID: 26853229.
      View in: PubMed
    14. Zuleger CL, Macklin MD, Bostwick BL, Pei Q, Newton MA, Albertini MR. In vivo 6-thioguanine-resistant T cells from melanoma patients have public TCR and share TCR beta amino acid sequences with melanoma-reactive T cells. J Immunol Methods. 2011 Feb 28; 365(1-2):76-86. PMID: 21182840.
      View in: PubMed
    15. Fergestad T, Sale H, Bostwick B, Schaffer A, Ho L, Robertson GA, Ganetzky B. A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels. Proc Natl Acad Sci U S A. 2010 Mar 23; 107(12):5617-21. PMID: 20212103.
      View in: PubMed
    16. Fergestad T, Bostwick B, Ganetzky B. Metabolic disruption in Drosophila bang-sensitive seizure mutants. Genetics. 2006 Jul; 173(3):1357-64. PMID: 16648587.
      View in: PubMed
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