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Items: 44

1.

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R.

Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13.

2.

Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.

Carlston CM, Bleyl SB, Andrews A, Meyers L, Brown S, Bayrak-Toydemir P, Bale JF, Botto LD.

Am J Med Genet A. 2019 May;179(5):792-796. doi: 10.1002/ajmg.a.61091. Epub 2019 Feb 17.

PMID:
30773818
3.

Experience with Integrating Diagnostic Decision Support Software with Electronic Health Records: Benefits versus Risks of Information Sharing.

Segal MM, Rahm AK, Hulse NC, Wood G, Williams JL, Feldman L, Moore GJ, Gehrum D, Yefko M, Mayernick S, Gildersleeve R, Sunderland MC, Bleyl SB, Haug P, Williams MS.

EGEMS (Wash DC). 2017 Dec 6;5(1):23. doi: 10.5334/egems.244.

4.

DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy.

Van Dorn CS, Puchalski MD, Weng HY, Bleyl SB, Butterfield RJ, Williams RV.

Cardiol Young. 2018 Jul;28(7):910-915. doi: 10.1017/S1047951118000288. Epub 2018 May 16.

PMID:
29766838
5.

Use of Extracorporeal Membrane Oxygenation and Mortality in Pediatric Cardiac Surgery Patients With Genetic Conditions: A Multicenter Analysis.

Furlong-Dillard JM, Amula V, Bailly DK, Bleyl SB, Wilkes J, Bratton SL.

Pediatr Crit Care Med. 2017 Sep;18(9):850-858. doi: 10.1097/PCC.0000000000001225.

6.

A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.

Brunelli L, Mao R, Jenkins SM, Bleyl SB, Dames SA, Miller CE, Ostrander B, Tvrdik T, Andrews S, Flores J, Patel S, Gudgeon JM, Schaefer S.

Am J Med Genet A. 2017 Jul;173(7):1979-1982. doi: 10.1002/ajmg.a.38259. Epub 2017 May 12. No abstract available.

PMID:
28497657
7.

Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

Eckhauser A, South ST, Meyers L, Bleyl SB, Botto LD.

J Pediatr. 2015 Nov;167(5):1062-6. doi: 10.1016/j.jpeds.2015.08.002. Epub 2015 Aug 29.

PMID:
26323199
8.

Carbo-Iron as improvement of the nanoiron technology: From laboratory design to the field test.

Mackenzie K, Bleyl S, Kopinke FD, Doose H, Bruns J.

Sci Total Environ. 2016 Sep 1;563-564:641-8. doi: 10.1016/j.scitotenv.2015.07.107. Epub 2015 Aug 20.

PMID:
26299641
9.

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

Bowles NE, Jou CJ, Arrington CB, Kennedy BJ, Earl A, Matsunami N, Meyers LL, Etheridge SP, Saarel EV, Bleyl SB, Yost HJ, Yandell M, Leppert MF, Tristani-Firouzi M, Gruber PJ; Baylor Hopkins Centers for Mendelian Genomics.

Am J Med Genet A. 2015 Dec;167A(12):2975-84. doi: 10.1002/ajmg.a.37297. Epub 2015 Aug 18.

10.

Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).

Nash D, Arrington CB, Kennedy BJ, Yandell M, Wu W, Zhang W, Ware S, Jorde LB, Gruber PJ, Yost HJ, Bowles NE, Bleyl SB.

PLoS One. 2015 Jun 29;10(6):e0131514. doi: 10.1371/journal.pone.0131514. eCollection 2015.

11.

Global implementation of genomic medicine: We are not alone.

Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, Wong JE, Green ED, Ginsburg GS.

Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194. Review.

12.

Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.

Yetman AT, Starr LJ, Bleyl SB, Meyers L, Delaney JW.

Pediatrics. 2015 Jul;136(1):e262-6. doi: 10.1542/peds.2014-3032. Epub 2015 Jun 1.

13.

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P.

Am J Med Genet A. 2015 Aug;167A(8):1747-57. doi: 10.1002/ajmg.a.37085. Epub 2015 May 5.

PMID:
25944730
14.

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach.

Hinton RB, McBride KL, Bleyl SB, Bowles NE, Border WL, Garg V, Smolarek TA, Lalani SR, Ware SM.

J Cardiovasc Dev Dis. 2015 Apr 29;2(2):76-92. doi: 10.3390/jcdd2020076.

15.

A field investigation on transport of carbon-supported nanoscale zero-valent iron (nZVI) in groundwater.

Busch J, Meißner T, Potthoff A, Bleyl S, Georgi A, Mackenzie K, Trabitzsch R, Werban U, Oswald SE.

J Contam Hydrol. 2015 Oct;181:59-68. doi: 10.1016/j.jconhyd.2015.03.009. Epub 2015 Apr 3.

PMID:
25864966
16.

Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

Purnell SM, Bleyl SB, Bonkowsky JL.

Pediatr Neurol. 2014 Jun;50(6):608-11. doi: 10.1016/j.pediatrneurol.2014.01.051. Epub 2014 Feb 10.

17.

Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.

Bogarapu S, Bleyl SB, Calhoun A, Viskochil D, Saarel EV, Everitt MD, Frank DU.

Am J Med Genet A. 2014 May;164A(5):1304-9. doi: 10.1002/ajmg.a.36447. Epub 2014 Mar 24.

PMID:
24664963
18.

Family-based studies to identify genetic variants that cause congenital heart defects.

Arrington CB, Bleyl SB, Brunelli L, Bowles NE.

Future Cardiol. 2013 Jul;9(4):507-18. doi: 10.2217/fca.13.40. Review.

PMID:
23834692
19.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR.

Am J Med Genet A. 2012 Dec;158A(12):3148-58. doi: 10.1002/ajmg.a.35665. Epub 2012 Nov 19.

20.

A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.

Arrington CB, Bleyl SB, Matsunami N, Bowles NE, Leppert TI, Demarest BL, Osborne K, Yoder BA, Byrne JL, Schiffman JD, Null DM, DiGeronimo R, Rollins M, Faix R, Comstock J, Camp NJ, Leppert MF, Yost HJ, Brunelli L.

Am J Med Genet A. 2012 Dec;158A(12):3137-47. doi: 10.1002/ajmg.a.35664. Epub 2012 Nov 19.

21.

Carbo-Iron - An Fe/AC composite - As alternative to nano-iron for groundwater treatment.

Mackenzie K, Bleyl S, Georgi A, Kopinke FD.

Water Res. 2012 Aug;46(12):3817-26. doi: 10.1016/j.watres.2012.04.013. Epub 2012 Apr 26.

PMID:
22591820
22.

Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects.

Arrington CB, Dowse BR, Bleyl SB, Bowles NE.

Eur J Med Genet. 2012 Apr;55(4):235-7. doi: 10.1016/j.ejmg.2012.02.002. Epub 2012 Feb 23.

23.

Exome analysis of a family with pleiotropic congenital heart disease.

Arrington CB, Bleyl SB, Matsunami N, Bonnell GD, Otterud BE, Nielsen DC, Stevens J, Levy S, Leppert MF, Bowles NE.

Circ Cardiovasc Genet. 2012 Apr 1;5(2):175-82. doi: 10.1161/CIRCGENETICS.111.961797. Epub 2012 Feb 15.

24.

Redundant and dosage sensitive requirements for Fgf3 and Fgf10 in cardiovascular development.

Urness LD, Bleyl SB, Wright TJ, Moon AM, Mansour SL.

Dev Biol. 2011 Aug 15;356(2):383-97. doi: 10.1016/j.ydbio.2011.05.671. Epub 2011 Jun 12.

25.

Detection of isoform-specific fibroblast growth factor receptors by whole-mount in situ hybridization in early chick embryos.

Nishita J, Ohta S, Bleyl SB, Schoenwolf GC.

Dev Dyn. 2011 Jun;240(6):1537-47. doi: 10.1002/dvdy.22616. Epub 2011 Apr 4.

26.

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

Bhoj EJ, Ramos P, Baker LA, Garg V, Cost N, Nordenskjöld A, Elder FF, Bleyl SB, Bowles NE, Arrington CB, Delhomme B, Vanhoutteghem A, Djian P, Zinn AR.

Eur J Hum Genet. 2011 May;19(5):540-6. doi: 10.1038/ejhg.2010.245. Epub 2011 Feb 2. Erratum in: Eur J Hum Genet. 2012 Feb;20(2):249. Garg, Vidu [added].

27.

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.

Bruggers CS, Bleyl SB, Pysher T, Barnette P, Afify Z, Walker M, Biegel JA.

Pediatr Blood Cancer. 2011 Jul 1;56(7):1026-31. doi: 10.1002/pbc.22757. Epub 2010 Sep 16.

28.

Cardiac malformations in Pdgfralpha mutant embryos are associated with increased expression of WT1 and Nkx2.5 in the second heart field.

Bax NA, Bleyl SB, Gallini R, Wisse LJ, Hunter J, Van Oorschot AA, Mahtab EA, Lie-Venema H, Goumans MJ, Betsholtz C, Gittenberger-de Groot AC.

Dev Dyn. 2010 Aug;239(8):2307-17. doi: 10.1002/dvdy.22363.

29.

Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms.

Bleyl SB, Saijoh Y, Bax NA, Gittenberger-de Groot AC, Wisse LJ, Chapman SC, Hunter J, Shiratori H, Hamada H, Yamada S, Shiota K, Klewer SE, Leppert MF, Schoenwolf GC.

Hum Mol Genet. 2010 Apr 1;19(7):1286-301. doi: 10.1093/hmg/ddq005. Epub 2010 Jan 13.

30.

Identification of differentially expressed genes in early inner ear development.

Paxton CN, Bleyl SB, Chapman SC, Schoenwolf GC.

Gene Expr Patterns. 2010 Jan;10(1):31-43. doi: 10.1016/j.gep.2009.11.002. Epub 2009 Nov 11.

31.

Platelet-derived growth factor is involved in the differentiation of second heart field-derived cardiac structures in chicken embryos.

Bax NA, Lie-Venema H, Vicente-Steijn R, Bleyl SB, Van Den Akker NM, Maas S, Poelmann RE, Gittenberger-de Groot AC.

Dev Dyn. 2009 Oct;238(10):2658-69. doi: 10.1002/dvdy.22073.

32.

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC.

Am J Med Genet A. 2007 Dec 1;143A(23):2785-95.

PMID:
17994562
33.
34.

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM.

Eur J Hum Genet. 2007 Sep;15(9):950-8. Epub 2007 Jun 13.

35.

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.

Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST.

Am J Med Genet A. 2007 May 15;143A(10):1053-9.

36.

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12.

Bleyl SB, Botto LD, Carey JC, Young LT, Bamshad MJ, Leppert MF, Ward K.

Am J Med Genet A. 2006 Nov 1;140(21):2368-73. No abstract available.

PMID:
17036341
37.

Restricted expression of Fgf16 within the developing chick inner ear.

Chapman SC, Cai Q, Bleyl SB, Schoenwolf GC.

Dev Dyn. 2006 Aug;235(8):2276-81.

38.
39.

Vasculogenesis drives pulmonary vascular growth in the developing chick embryo.

Anderson-Berry A, O'Brien EA, Bleyl SB, Lawson A, Gundersen N, Ryssman D, Sweeley J, Dahl MJ, Drake CJ, Schoenwolf GC, Albertine KH.

Dev Dyn. 2005 May;233(1):145-53.

40.

Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals.

Bleyl SB, Mumford BR, Brown-Harrison MC, Pagotto LT, Carey JC, Pysher TJ, Ward K, Chin TK.

Am J Med Genet. 1997 Oct 31;72(3):257-65.

PMID:
9332651
41.

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.

Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, Ward K.

Am J Hum Genet. 1997 Oct;61(4):868-72.

42.

A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12.

Bleyl S, Nelson L, Odelberg SJ, Ruttenberg HD, Otterud B, Leppert M, Ward K.

Am J Hum Genet. 1995 Feb;56(2):408-15.

43.

Familial total anomalous pulmonary venous return: a large Utah-Idaho family.

Bleyl S, Ruttenberg HD, Carey JC, Ward K.

Am J Med Genet. 1994 Oct 1;52(4):462-6.

PMID:
7747759
44.

An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene.

Bleyl S, Ainsworth P, Nelson L, Viskochil D, Ward K.

Hum Mol Genet. 1994 Mar;3(3):517-8. No abstract available.

PMID:
8012366

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