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Items: 30


Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666. Review.


MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS.

Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21.


Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S.

Am J Hum Genet. 2017 Aug 3;101(2):291-299. doi: 10.1016/j.ajhg.2017.07.006.


Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R.

Genet Med. 2018 Feb;20(2):223-233. doi: 10.1038/gim.2017.94. Epub 2017 Aug 3.


Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.

Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15.


Abnormal glycosylation in Joubert syndrome type 10.

Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O'Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, Malicdan MCV, Gahl WA, Boerkoel CF.

Cilia. 2017 Mar 23;6:2. doi: 10.1186/s13630-017-0048-6. eCollection 2017.


Long-distance communication by specialized cellular projections during pigment pattern development and evolution.

Eom DS, Bain EJ, Patterson LB, Grout ME, Parichy DM.

Elife. 2015 Dec 23;4. pii: e12401. doi: 10.7554/eLife.12401.


Animal and human antibodies to distinct Staphylococcus aureus antigens mutually neutralize opsonic killing and protection in mice.

Skurnik D, Merighi M, Grout M, Gadjeva M, Maira-Litran T, Ericsson M, Goldmann DA, Huang SS, Datta R, Lee JC, Pier GB.

J Clin Invest. 2010 Sep;120(9):3220-33. doi: 10.1172/JCI42748. Epub 2010 Aug 25.


Evaluation of flagella and flagellin of Pseudomonas aeruginosa as vaccines.

Campodónico VL, Llosa NJ, Grout M, Döring G, Maira-Litrán T, Pier GB.

Infect Immun. 2010 Feb;78(2):746-55. doi: 10.1128/IAI.00806-09. Epub 2009 Dec 7.


Synthetic {beta}-(1->6)-linked N-acetylated and nonacetylated oligoglucosamines used to produce conjugate vaccines for bacterial pathogens.

Gening ML, Maira-Litrán T, Kropec A, Skurnik D, Grout M, Tsvetkov YE, Nifantiev NE, Pier GB.

Infect Immun. 2010 Feb;78(2):764-72. doi: 10.1128/IAI.01093-09. Epub 2009 Nov 30.


Protection against Escherichia coli infection by antibody to the Staphylococcus aureus poly-N-acetylglucosamine surface polysaccharide.

Cerca N, Maira-Litrán T, Jefferson KK, Grout M, Goldmann DA, Pier GB.

Proc Natl Acad Sci U S A. 2007 May 1;104(18):7528-33. Epub 2007 Apr 19.


Poly-N-acetylglucosamine production in Staphylococcus aureus is essential for virulence in murine models of systemic infection.

Kropec A, Maira-Litran T, Jefferson KK, Grout M, Cramton SE, Götz F, Goldmann DA, Pier GB.

Infect Immun. 2005 Oct;73(10):6868-76.


Human monoclonal antibodies to Pseudomonas aeruginosa alginate that protect against infection by both mucoid and nonmucoid strains.

Pier GB, Boyer D, Preston M, Coleman FT, Llosa N, Mueschenborn-Koglin S, Theilacker C, Goldenberg H, Uchin J, Priebe GP, Grout M, Posner M, Cavacini L.

J Immunol. 2004 Nov 1;173(9):5671-8. Erratum in: J Immunol. 2007 Jun 1;178(11):7485.


Construction and characterization of a Pseudomonas aeruginosa mucoid exopolysaccharide-alginate conjugate vaccine.

Theilacker C, Coleman FT, Mueschenborn S, Llosa N, Grout M, Pier GB.

Infect Immun. 2003 Jul;71(7):3875-84.


Construction and characterization of a live, attenuated aroA deletion mutant of Pseudomonas aeruginosa as a candidate intranasal vaccine.

Priebe GP, Brinig MM, Hatano K, Grout M, Coleman FT, Pier GB, Goldberg JB.

Infect Immun. 2002 Mar;70(3):1507-17.


Epithelial cell contact-induced alterations in Salmonella enterica serovar Typhi lipopolysaccharide are critical for bacterial internalization.

Lyczak JB, Zaidi TS, Grout M, Bittner M, Contreras I, Pier GB.

Cell Microbiol. 2001 Nov;3(11):763-72.


Transgenic cystic fibrosis mice exhibit reduced early clearance of Pseudomonas aeruginosa from the respiratory tract.

Schroeder TH, Reiniger N, Meluleni G, Grout M, Coleman FT, Pier GB.

J Immunol. 2001 Jun 15;166(12):7410-8.


Role of alginate O acetylation in resistance of mucoid Pseudomonas aeruginosa to opsonic phagocytosis.

Pier GB, Coleman F, Grout M, Franklin M, Ohman DE.

Infect Immun. 2001 Mar;69(3):1895-901.


Salmonella typhi uses CFTR to enter intestinal epithelial cells.

Pier GB, Grout M, Zaidi T, Meluleni G, Mueschenborn SS, Banting G, Ratcliff R, Evans MJ, Colledge WH.

Nature. 1998 May 7;393(6680):79-82.


How mutant CFTR may contribute to Pseudomonas aeruginosa infection in cystic fibrosis.

Pier GB, Grout M, Zaidi TS, Goldberg JB.

Am J Respir Crit Care Med. 1996 Oct;154(4 Pt 2):S175-82.


Relationship between cytotoxicity and corneal epithelial cell invasion by clinical isolates of Pseudomonas aeruginosa.

Fleiszig SM, Zaidi TS, Preston MJ, Grout M, Evans DJ, Pier GB.

Infect Immun. 1996 Jun;64(6):2288-94.


Role of mutant CFTR in hypersusceptibility of cystic fibrosis patients to lung infections.

Pier GB, Grout M, Zaidi TS, Olsen JC, Johnson LG, Yankaskas JR, Goldberg JB.

Science. 1996 Jan 5;271(5245):64-7.


Human immune response to Pseudomonas aeruginosa mucoid exopolysaccharide (alginate) vaccine.

Pier GB, DesJardin D, Grout M, Garner C, Bennett SE, Pekoe G, Fuller SA, Thornton MO, Harkonen WS, Miller HC.

Infect Immun. 1994 Sep;62(9):3972-9.


Transposon mutants of Staphylococcus epidermidis deficient in elaboration of capsular polysaccharide/adhesin and slime are avirulent in a rabbit model of endocarditis.

Shiro H, Muller E, Gutierrez N, Boisot S, Grout M, Tosteson TD, Goldmann D, Pier GB.

J Infect Dis. 1994 May;169(5):1042-9.


Induction of opsonic antibodies to Pseudomonas aeruginosa mucoid exopolysaccharide by an anti-idiotypic monoclonal antibody.

Schreiber JR, Pier GB, Grout M, Nixon K, Patawaran M.

J Infect Dis. 1991 Sep;164(3):507-14.


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