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Items: 1 to 50 of 595

1.

Special issue on "recent advances in meiosis from DNA replication to chromosome segregation".

Cole F, Borde V.

Chromosoma. 2019 Sep;128(3):177-180. doi: 10.1007/s00412-019-00726-4.

PMID:
31616989
2.

Use of EHR-Based Pediatric Quality Measures: Views of Health System Leaders and Parents.

Hartley DM, Jonas S, Grossoehme D, Kelly A, Dodds C, Alford SM, Shenkman E, Simmons J, Bailey LC, Razzaghi H, Utidjian LH, McCafferty-Fernandez J, Cole FS, Smallwood J, Werk LN, Walsh KE.

Am J Med Qual. 2019 May 22:1062860619850322. doi: 10.1177/1062860619850322. [Epub ahead of print]

PMID:
31115254
3.

Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.

Sandler-Wilson C, Wambach JA, Marshall BA, Wegner DJ, McAlister W, Cole FS, Shinawi M.

Bone. 2019 Jul;124:14-21. doi: 10.1016/j.bone.2019.03.029. Epub 2019 Mar 23.

PMID:
30914273
4.

CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans.

Thomas BJ, Wight IE, Chou WYY, Moreno M, Dawson Z, Homayouni A, Huang H, Kim H, Jia H, Buland JR, Wambach JA, Cole FS, Pak SC, Silverman GA, Luke CJ.

PLoS One. 2019 Mar 26;14(3):e0214257. doi: 10.1371/journal.pone.0214257. eCollection 2019.

5.

Dynamic reorganization of the genome shapes the recombination landscape in meiotic prophase.

Patel L, Kang R, Rosenberg SC, Qiu Y, Raviram R, Chee S, Hu R, Ren B, Cole F, Corbett KD.

Nat Struct Mol Biol. 2019 Mar;26(3):164-174. doi: 10.1038/s41594-019-0187-0. Epub 2019 Feb 18.

6.

Crystal structure of a ligand-free stable TSH receptor leucine-rich repeat domain.

Miller-Gallacher J, Sanders P, Young S, Sullivan A, Baker S, Reddington SC, Clue M, Kabelis K, Clark J, Wilmot J, Thomas D, Chlebowska M, Cole F, Pearson E, Roberts E, Holly M, Evans M, Núñez Miguel R, Powell M, Sanders J, Furmaniak J, Rees Smith B.

J Mol Endocrinol. 2019 Apr 1;62(3):117-128. doi: 10.1530/JME-18-0213.

PMID:
30689545
7.

Optimizing the AKI definition during first postnatal week using Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN) cohort.

Askenazi D, Abitbol C, Boohaker L, Griffin R, Raina R, Dower J, Davis TK, Ray PE, Perazzo S, DeFreitas M, Milner L, Ambalavanan N, Cole FS, Rademacher E, Zappitelli M, Mhanna M; Neonatal Kidney Collaborative.

Pediatr Res. 2019 Feb;85(3):329-338. doi: 10.1038/s41390-018-0249-8. Epub 2018 Dec 13.

8.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A.

Am J Hum Genet. 2018 Dec 6;103(6):968-975. doi: 10.1016/j.ajhg.2018.10.010. Epub 2018 Nov 7.

9.

2018 PLOS Genetics Research Prize: Bundling, stabilizing, organizing-The orchestration of acentriolar spindle assembly by microtubule motor proteins.

Barsh GS, Bhalla N, Cole F, Copenhaver GP, Lacefield S, Libuda DE.

PLoS Genet. 2018 Sep 13;14(9):e1007649. doi: 10.1371/journal.pgen.1007649. eCollection 2018 Sep. No abstract available.

10.

Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.

Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS.

Pediatr Res. 2018 Sep;84(3):435-441. doi: 10.1038/s41390-018-0083-z. Epub 2018 Jun 4.

11.

Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research.

Musunuru K, Bernstein D, Cole FS, Khokha MK, Lee FS, Lin S, McDonald TV, Moskowitz IP, Quertermous T, Sankaran VG, Schwartz DA, Silverman EK, Zhou X, Hasan AAK, Luo XJ.

Circ Genom Precis Med. 2018 Apr;11(4):e002178. doi: 10.1161/CIRCGEN.118.002178. Review.

12.

Direct to operating room trauma resuscitation decreases mortality among severely injured children.

Wieck MM, Cunningham AJ, Behrens B, Ohm ET, Maxwell BG, Hamilton NA, Adams MC, Cole FJ Jr, Jafri MA.

J Trauma Acute Care Surg. 2018 Oct;85(4):659-664. doi: 10.1097/TA.0000000000001908.

PMID:
29554039
13.

Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC.

Attarian SJ, Leibel SL, Yang P, Alfano DN, Hackett BP, Cole FS, Hamvas A.

Pediatr Res. 2018 Sep;84(3):419-425. doi: 10.1038/pr.2018.30. Epub 2018 Apr 11.

14.

Missing the Mark: PRDM9-Dependent Methylation Is Required for Meiotic DSB Targeting.

Kang R, Zelazowski MJ, Cole F.

Mol Cell. 2018 Mar 1;69(5):725-727. doi: 10.1016/j.molcel.2018.02.021.

15.

Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population.

Chen YJ, Meyer J, Wambach JA, DePass K, Wegner DJ, Fan X, Zhang QY, Hillary H, Cole FS, Hamvas A.

World J Pediatr. 2018 Feb;14(1):52-56. doi: 10.1007/s12519-017-0109-3. Epub 2018 Feb 6.

PMID:
29411327
16.

Discussion of "Evaluation of a novel thoracic entry device versus needle decompression in a tension pneumothorax swine model".

Cole FJ Jr.

Am J Surg. 2018 May;215(5):836-837. doi: 10.1016/j.amjsurg.2017.11.051. Epub 2018 Jan 13. No abstract available.

PMID:
29397892
17.

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.

Towe CT, White FV, Grady RM, Sweet SC, Eghtesady P, Wegner DJ, Sen P, Szafranski P, Stankiewicz P, Hamvas A, Cole FS, Wambach JA.

J Pediatr. 2018 Mar;194:158-164.e1. doi: 10.1016/j.jpeds.2017.10.026. Epub 2017 Dec 1.

18.

Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth.

Stout MJ, Demaree D, Merfeld E, Tuuli MG, Wambach JA, Cole FS, Cahill AG.

Am J Perinatol. 2018 Apr;35(5):494-502. doi: 10.1055/s-0037-1608804. Epub 2017 Nov 28.

PMID:
29183099
19.

Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells.

Jacob A, Morley M, Hawkins F, McCauley KB, Jean JC, Heins H, Na CL, Weaver TE, Vedaie M, Hurley K, Hinds A, Russo SJ, Kook S, Zacharias W, Ochs M, Traber K, Quinton LJ, Crane A, Davis BR, White FV, Wambach J, Whitsett JA, Cole FS, Morrisey EE, Guttentag SH, Beers MF, Kotton DN.

Cell Stem Cell. 2017 Oct 5;21(4):472-488.e10. doi: 10.1016/j.stem.2017.08.014. Epub 2017 Sep 28.

20.

Age-Dependent Alterations in Meiotic Recombination Cause Chromosome Segregation Errors in Spermatocytes.

Zelazowski MJ, Sandoval M, Paniker L, Hamilton HM, Han J, Gribbell MA, Kang R, Cole F.

Cell. 2017 Oct 19;171(3):601-614.e13. doi: 10.1016/j.cell.2017.08.042. Epub 2017 Sep 21.

21.

The Genomics of Neonatal Abstinence Syndrome.

Cole FS, Wegner DJ, Davis JM.

Front Pediatr. 2017 Aug 22;5:176. doi: 10.3389/fped.2017.00176. eCollection 2017. Review.

22.

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R.

Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17.

23.

Bowel Necrosis and 3 Limb Amputation From High-Voltage Electrical Injury.

Ramly EP, MacFie R, Eshraghi N, Cole F, Engel D.

J Burn Care Res. 2018 Jun 13;39(4):628-633. doi: 10.1097/BCR.0000000000000612. Review.

PMID:
28661988
24.

Resident Experiences With Implementation of the I-PASS Handoff Bundle.

Coffey M, Thomson K, Li SA, Bismilla Z, Starmer AJ, O'Toole JK, Blankenburg RL, Rosenbluth G, Cole FS, Yu CE, Hepps JH, Sectish TC, Spector ND, Srivastava R, Allen AD, Mahant S, Landrigan CP.

J Grad Med Educ. 2017 Jun;9(3):313-320. doi: 10.4300/JGME-D-16-00616.1.

25.

Analysis of DNA polymerase ν function in meiotic recombination, immunoglobulin class-switching, and DNA damage tolerance.

Takata KI, Reh S, Yousefzadeh MJ, Zelazowski MJ, Bhetawal S, Trono D, Lowery MG, Sandoval M, Takata Y, Lu Y, Lin K, Shen J, Kusewitt DF, McBride KM, Cole F, Wood RD.

PLoS Genet. 2017 Jun 1;13(6):e1006818. doi: 10.1371/journal.pgen.1006818. eCollection 2017 Jun.

26.

Families as Partners in Hospital Error and Adverse Event Surveillance.

Khan A, Coffey M, Litterer KP, Baird JD, Furtak SL, Garcia BM, Ashland MA, Calaman S, Kuzma NC, O'Toole JK, Patel A, Rosenbluth G, Destino LA, Everhart JL, Good BP, Hepps JH, Dalal AK, Lipsitz SR, Yoon CS, Zigmont KR, Srivastava R, Starmer AJ, Sectish TC, Spector ND, West DC, Landrigan CP; the Patient and Family Centered I-PASS Study Group, Allair BK, Alminde C, Alvarado-Little W, Atsatt M, Aylor ME, Bale JF Jr, Balmer D, Barton KT, Beck C, Bismilla Z, Blankenburg RL, Chandler D, Choudhary A, Christensen E, Coghlan-McDonald S, Cole FS, Corless E, Cray S, Da Silva R, Dahale D, Dreyer B, Growdon AS, Gubler L, Guiot A, Harris R, Haskell H, Kocolas I, Kruvand E, Lane MM, Langrish K, Ledford CJW, Lewis K, Lopreiato JO, Maloney CG, Mangan A, Markle P, Mendoza F, Micalizzi DA, Mittal V, Obermeyer M, O'Donnell KA, Ottolini M, Patel SJ, Pickler R, Rogers JE, Sanders LM, Sauder K, Shah SS, Sharma M, Simpkin A, Subramony A, Thompson ED Jr, Trueman L, Trujillo T, Turmelle MP, Warnick C, Welch C, White AJ, Wien MF, Winn AS, Wintch S, Wolf M, Yin HS, Yu CE.

JAMA Pediatr. 2017 Apr 1;171(4):372-381. doi: 10.1001/jamapediatrics.2016.4812. Erratum in: JAMA Pediatr. 2018 Mar 1;172(3):302.

27.

Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.

Eldridge WB, Zhang Q, Faro A, Sweet SC, Eghtesady P, Hamvas A, Cole FS, Wambach JA.

J Pediatr. 2017 May;184:157-164.e2. doi: 10.1016/j.jpeds.2017.01.017. Epub 2017 Feb 16.

28.

Isoniazid preventive treatment among child contacts of adults with smear-positive tuberculosis in The Gambia.

Egere U, Sillah A, Togun T, Kandeh S, Cole F, Jallow A, Able-Thomas A, Hoelscher M, Heinrich N, Hill PC, Kampmann B.

Public Health Action. 2016 Dec 21;6(4):226-231. doi: 10.5588/pha.16.0073.

29.

RB localizes to DNA double-strand breaks and promotes DNA end resection and homologous recombination through the recruitment of BRG1.

Vélez-Cruz R, Manickavinayaham S, Biswas AK, Clary RW, Premkumar T, Cole F, Johnson DG.

Genes Dev. 2016 Nov 15;30(22):2500-2512.

30.

SCAI promotes DNA double-strand break repair in distinct chromosomal contexts.

Hansen RK, Mund A, Poulsen SL, Sandoval M, Klement K, Tsouroula K, Tollenaere MA, Räschle M, Soria R, Offermanns S, Worzfeld T, Grosse R, Brandt DT, Rozell B, Mann M, Cole F, Soutoglou E, Goodarzi AA, Daniel JA, Mailand N, Bekker-Jensen S.

Nat Cell Biol. 2016 Dec;18(12):1357-1366. doi: 10.1038/ncb3436. Epub 2016 Nov 7.

31.

53BP1 ablation rescues genomic instability in mice expressing 'RING-less' BRCA1.

Li M, Cole F, Patel DS, Misenko SM, Her J, Malhowski A, Alhamza A, Zheng H, Baer R, Ludwig T, Jasin M, Nussenzweig A, Serrano L, Bunting SF.

EMBO Rep. 2016 Nov;17(11):1532-1541. Epub 2016 Sep 26.

32.

Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.

Wambach JA, Yang P, Wegner DJ, Heins HB, Kaliberova LN, Kaliberov SA, Curiel DT, White FV, Hamvas A, Hackett BP, Cole FS.

Am J Respir Cell Mol Biol. 2016 Nov;55(5):716-721.

33.

Evaluation of Cervical Spine Clearance by Computed Tomographic Scan Alone in Intoxicated Patients With Blunt Trauma.

Bush L, Brookshire R, Roche B, Johnson A, Cole F, Karmy-Jones R, Long W, Martin MJ.

JAMA Surg. 2016 Sep 1;151(9):807-13. doi: 10.1001/jamasurg.2016.1248.

PMID:
27305663
34.

X marks the spot: PRDM9 rescues hybrid sterility by finding hidden treasure in the genome.

Zelazowski MJ, Cole F.

Nat Struct Mol Biol. 2016 Apr;23(4):267-9. doi: 10.1038/nsmb.3201. No abstract available.

35.

Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants.

Shen CL, Zhang Q, Meyer Hudson J, Cole FS, Wambach JA.

J Pediatr. 2016 May;172:69-74.e2. doi: 10.1016/j.jpeds.2016.01.031. Epub 2016 Feb 28.

36.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

37.

Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.

Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A.

World J Pediatr. 2016 May;12(2):190-5. doi: 10.1007/s12519-015-0047-x. Epub 2015 Nov 7.

PMID:
26547207
38.

Respiratory failure in a term infant with cis and trans mutations in ABCA3.

Jackson T, Wegner DJ, White FV, Hamvas A, Cole FS, Wambach JA.

J Perinatol. 2015 Mar;35(3):231-2. doi: 10.1038/jp.2014.236.

39.

Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.

Coghlan MA, Shifren A, Huang HJ, Russell TD, Mitra RD, Zhang Q, Wegner DJ, Cole FS, Hamvas A.

BMJ Open Respir Res. 2014 Dec 10;1(1):e000057. doi: 10.1136/bmjresp-2014-000057. eCollection 2014.

40.

Changes in medical errors after implementation of a handoff program.

Starmer AJ, Spector ND, Srivastava R, West DC, Rosenbluth G, Allen AD, Noble EL, Tse LL, Dalal AK, Keohane CA, Lipsitz SR, Rothschild JM, Wien MF, Yoon CS, Zigmont KR, Wilson KM, O'Toole JK, Solan LG, Aylor M, Bismilla Z, Coffey M, Mahant S, Blankenburg RL, Destino LA, Everhart JL, Patel SJ, Bale JF Jr, Spackman JB, Stevenson AT, Calaman S, Cole FS, Balmer DF, Hepps JH, Lopreiato JO, Yu CE, Sectish TC, Landrigan CP; I-PASS Study Group.

N Engl J Med. 2014 Nov 6;371(19):1803-12. doi: 10.1056/NEJMsa1405556.

41.

Minoxidil-associated anorexia in an infant with refractory hypertension.

Vesoulis ZA, Attarian SJ, Zeller B, Cole FS.

Pharmacotherapy. 2014 Dec;34(12):e341-4. doi: 10.1002/phar.1495. Epub 2014 Oct 3.

PMID:
25280267
42.

Mouse tetrad analysis provides insights into recombination mechanisms and hotspot evolutionary dynamics.

Cole F, Baudat F, Grey C, Keeney S, de Massy B, Jasin M.

Nat Genet. 2014 Oct;46(10):1072-80. doi: 10.1038/ng.3068. Epub 2014 Aug 24.

43.

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM.

Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC.

44.

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P.

Am J Med Genet A. 2014 Aug;164A(8):2013-9. doi: 10.1002/ajmg.a.36606. Epub 2014 May 19.

45.

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS.

J Pediatr. 2014 Jun;164(6):1316-21.e3. doi: 10.1016/j.jpeds.2014.02.021. Epub 2014 Mar 20.

46.

The sense and sensibility of strand exchange in recombination homeostasis.

Cole F.

PLoS Genet. 2014 Jan;10(1):e1004104. doi: 10.1371/journal.pgen.1004104. Epub 2014 Jan 23. No abstract available.

47.

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS.

BMC Med Genet. 2013 Oct 8;14:106. doi: 10.1186/1471-2350-14-106.

48.

The OHRP and SUPPORT.

Wilfond BS, Magnus D, Antommaria AH, Appelbaum P, Aschner J, Barrington KJ, Beauchamp T, Boss RD, Burke W, Caplan AL, Capron AM, Cho M, Clayton EW, Cole FS, Darlow BA, Diekema D, Faden RR, Feudtner C, Fins JJ, Fost NC, Frader J, Hester DM, Janvier A, Joffe S, Kahn J, Kass NE, Kodish E, Lantos JD, McCullough L, McKinney R Jr, Meadow W, O'Rourke PP, Powderly KE, Pursley DM, Ross LF, Sayeed S, Sharp RR, Sugarman J, Tarnow-Mordi WO, Taylor H, Tomlinson T, Truog RD, Unguru YT, Weise KL, Woodrum D, Youngner S.

N Engl J Med. 2013 Jun 20;368(25):e36. doi: 10.1056/NEJMc1307008. Epub 2013 Jun 5. No abstract available.

PMID:
23738513
49.

Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly.

Ramos EI, Bien-Willner GA, Li J, Hughes AE, Giacalone J, Chasnoff S, Kulkarni S, Parmacek M, Cole FS, Druley TE.

Clin Genet. 2014 May;85(5):423-32. doi: 10.1111/cge.12197. Epub 2013 Jun 18.

50.

Congenital lymphocytic choriomeningitis virus: when to consider the diagnosis.

Anderson JL, Levy PT, Leonard KB, Smyser CD, Tychsen L, Cole FS.

J Child Neurol. 2014 Jun;29(6):837-42. doi: 10.1177/0883073813486295. Epub 2013 May 10.

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