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Items: 1 to 50 of 310

1.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2019 Jun 29. pii: S0006-3223(19)31479-9. doi: 10.1016/j.biopsych.2019.05.028. [Epub ahead of print]

PMID:
31443933
2.

Cutting and shuffling a hemisphere: Nonorthogonal axes.

Lynn TF, Smith LD, Ottino JM, Umbanhowar PB, Lueptow RM.

Phys Rev E. 2019 Mar;99(3-1):032204. doi: 10.1103/PhysRevE.99.032204.

PMID:
30999529
3.

Adaptive parenting strategies used by mothers with physical disabilities caring for infants and toddlers.

Powell RM, Mitra M, Smeltzer SC, Long-Bellil LM, Smith LD, Rosenthal E, Iezzoni LI.

Health Soc Care Community. 2019 Jul;27(4):889-898. doi: 10.1111/hsc.12706. Epub 2018 Dec 16.

PMID:
30556199
4.

Ultrasonic Exfoliation of Hydrophobic and Hydrophilic Metal-Organic Frameworks To Form Nanosheets.

Ashworth DJ, Cooper A, Trueman M, Al-Saedi RWM, Smith LD, Meijer AJHM, Foster JA.

Chemistry. 2018 Dec 5;24(68):17986-17996. doi: 10.1002/chem.201803221. Epub 2018 Nov 8.

5.

Fish associated with a subsea pipeline and adjacent seafloor of the North West Shelf of Western Australia.

Bond T, Partridge JC, Taylor MD, Langlois TJ, Malseed BE, Smith LD, McLean DL.

Mar Environ Res. 2018 Oct;141:53-65. doi: 10.1016/j.marenvres.2018.08.003. Epub 2018 Aug 4.

PMID:
30107887
6.

Understanding the biosecurity monitoring and reporting intentions of livestock producers: Identifying opportunities for behaviour change.

Wright BK, Jorgensen BS, Smith LDG.

Prev Vet Med. 2018 Sep 1;157:142-151. doi: 10.1016/j.prevetmed.2018.07.007. Epub 2018 Jul 7.

PMID:
30086842
7.

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, Saunders CJ, Thiffault I, Miller NA, Zellmer L, Herd SM, Holmes AM, Batalov S, Veeraraghavan N, Smith LD, Dimmock DP, Leeder JS, Kingsmore SF.

NPJ Genom Med. 2018 Feb 9;3:6. doi: 10.1038/s41525-018-0045-8. eCollection 2018.

8.

Mixing and transport from combined stretching-and-folding and cutting-and-shuffling.

Smith LD, Umbanhowar PB, Ottino JM, Lueptow RM.

Phys Rev E. 2017 Oct;96(4-1):042213. doi: 10.1103/PhysRevE.96.042213. Epub 2017 Oct 19.

PMID:
29347485
9.

A study of splicing mutations in disorders of sex development.

de Calais FL, Smith LD, Raponi M, Maciel-Guerra AT, Guerra-Junior G, de Mello MP, Baralle D.

Sci Rep. 2017 Nov 24;7(1):16202. doi: 10.1038/s41598-017-16296-3.

10.

Breastfeeding Among Women With Physical Disabilities in the United States.

Powell RM, Mitra M, Smeltzer SC, Long-Bellil LM, Smith LD, Rosenthal E, Iezzoni LI.

J Hum Lact. 2018 May;34(2):253-261. doi: 10.1177/0890334417739836. Epub 2017 Nov 22.

PMID:
29166569
11.

Behaviour change: Trialling a novel approach to reduce industrial stormwater pollution.

Boulet M, Ghafoori E, Jorgensen BS, Smith LDG.

J Environ Manage. 2017 Dec 15;204(Pt 1):272-281. doi: 10.1016/j.jenvman.2017.09.003.

PMID:
28898748
12.

Access to and Satisfaction with Prenatal Care Among Pregnant Women with Physical Disabilities: Findings from a National Survey.

Mitra M, Akobirshoev I, Moring NS, Long-Bellil L, Smeltzer SC, Smith LD, Iezzoni LI.

J Womens Health (Larchmt). 2017 Dec;26(12):1356-1363. doi: 10.1089/jwh.2016.6297. Epub 2017 Aug 23.

13.

Obstetric clinicians' experiences and educational preparation for caring for pregnant women with physical disabilities: A qualitative study.

Smeltzer SC, Mitra M, Long-Bellil L, Iezzoni LI, Smith LD.

Disabil Health J. 2018 Jan;11(1):8-13. doi: 10.1016/j.dhjo.2017.07.004. Epub 2017 Aug 1.

14.

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Couser NL, Marchuk DS, Smith LD, Arreola A, Kaiser-Rogers KA, Muenzer J, Pandya A, Gucsavas-Calikoglu M, Powell CM.

Am J Med Genet A. 2017 Oct;173(10):2720-2724. doi: 10.1002/ajmg.a.38351. Epub 2017 Jul 27.

PMID:
28749033
15.

Predicting mixing via resonances: Application to spherical piecewise isometries.

Smith LD, Park PP, Umbanhowar PB, Ottino JM, Lueptow RM.

Phys Rev E. 2017 Jun;95(6-1):062210. doi: 10.1103/PhysRevE.95.062210. Epub 2017 Jun 13.

PMID:
28709217
16.

Correction to "Structure-Dynamics Relation in Physically-Plausible Multi-Chromophore Systems".

Knee GC, Rowe P, Smith LD, Troisi A, Datta A.

J Phys Chem Lett. 2017 Jul 20;8(14):3178. doi: 10.1021/acs.jpclett.7b01560. Epub 2017 Jun 28. No abstract available.

PMID:
28657318
17.

Structure-Dynamics Relation in Physically-Plausible Multi-Chromophore Systems.

Knee GC, Rowe P, Smith LD, Troisi A, Datta A.

J Phys Chem Lett. 2017 May 18;8(10):2328-2333. doi: 10.1021/acs.jpclett.7b00829. Epub 2017 May 11. Erratum in: J Phys Chem Lett. 2017 Jul 20;8(14):3178.

PMID:
28475337
18.

Localized shear generates three-dimensional transport.

Smith LD, Rudman M, Lester DR, Metcalfe G.

Chaos. 2017 Apr;27(4):043102. doi: 10.1063/1.4979666.

PMID:
28456165
19.

Experiences and unmet needs of women with physical disabilities for pain relief during labor and delivery.

Long-Bellil L, Mitra M, Iezzoni LI, Smeltzer SC, Smith LD.

Disabil Health J. 2017 Jul;10(3):440-444. doi: 10.1016/j.dhjo.2017.02.007. Epub 2017 Apr 6.

PMID:
28428112
20.

Impact of discontinuous deformation upon the rate of chaotic mixing.

Smith LD, Rudman M, Lester DR, Metcalfe G.

Phys Rev E. 2017 Feb;95(2-1):022213. doi: 10.1103/PhysRevE.95.022213. Epub 2017 Feb 21.

PMID:
28297973
21.

Family Attitudes and Reactions toward Pregnancy among Women with Physical Disabilities.

Powell RM, Mitra M, Smeltzer SC, Long-Bellil LM, Smith LD, Iezzoni LI.

Womens Health Issues. 2017 May - Jun;27(3):345-350. doi: 10.1016/j.whi.2017.01.003. Epub 2017 Feb 16.

PMID:
28215842
22.

Barriers to providing maternity care to women with physical disabilities: Perspectives from health care practitioners.

Mitra M, Smith LD, Smeltzer SC, Long-Bellil LM, Sammet Moring N, Iezzoni LI.

Disabil Health J. 2017 Jul;10(3):445-450. doi: 10.1016/j.dhjo.2016.12.021. Epub 2017 Jan 3.

23.

Novel splice-switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action.

Smith LD, Leme de Calais F, Raponi M, Mellone M, Buratti E, Blaydes JP, Baralle D.

Int J Cancer. 2017 Apr 1;140(7):1564-1570. doi: 10.1002/ijc.30574. Epub 2017 Jan 30.

24.

The Dual Syk/JAK Inhibitor Cerdulatinib Antagonizes B-cell Receptor and Microenvironmental Signaling in Chronic Lymphocytic Leukemia.

Blunt MD, Koehrer S, Dobson RC, Larrayoz M, Wilmore S, Hayman A, Parnell J, Smith LD, Davies A, Johnson PWM, Conley PB, Pandey A, Strefford JC, Stevenson FK, Packham G, Forconi F, Coffey GP, Burger JA, Steele AJ.

Clin Cancer Res. 2017 May 1;23(9):2313-2324. doi: 10.1158/1078-0432.CCR-16-1662. Epub 2016 Oct 3.

25.

Perinatal Experiences of Women With Physical Disabilities and Their Recommendations for Clinicians.

Smeltzer SC, Mitra M, Iezzoni LI, Long-Bellil L, Smith LD.

J Obstet Gynecol Neonatal Nurs. 2016 Nov - Dec;45(6):781-789. doi: 10.1016/j.jogn.2016.07.007. Epub 2016 Sep 10.

26.

Nurses' Perceptions of Quality Care.

Ryan C, Powlesland J, Phillips C, Raszewski R, Johnson A, Banks-Enorense K, Agoo VC, Nacorda-Beltran R, Halloway S, Martin K, Smith LD, Walczak D, Warda J, Washington BJ, Welsh J.

J Nurs Care Qual. 2017 Apr/Jun;32(2):180-185. doi: 10.1097/NCQ.0000000000000211.

PMID:
27482871
27.

Clinical detection of deletion structural variants in whole-genome sequences.

Noll AC, Miller NA, Smith LD, Yoo B, Fiedler S, Cooley LD, Willig LK, Petrikin JE, Cakici J, Lesko J, Newton A, Detherage K, Thiffault I, Saunders CJ, Farrow EG, Kingsmore SF.

NPJ Genom Med. 2016 Aug 3;1:16026. doi: 10.1038/npjgenmed.2016.26. eCollection 2016.

28.

Process Optimization to Improve Immunosuppressant Drug Testing Turnaround Time.

Barakauskas VE, Bradshaw TA, Smith LD, Lehman CM, Johnson-Davis KL.

Am J Clin Pathol. 2016 Aug;146(2):182-90. doi: 10.1093/ajcp/aqw087. Epub 2016 Jul 24.

PMID:
27453440
29.

Bifurcations and degenerate periodic points in a three dimensional chaotic fluid flow.

Smith LD, Rudman M, Lester DR, Metcalfe G.

Chaos. 2016 May;26(5):053106. doi: 10.1063/1.4950763.

PMID:
27249946
30.

IL-4 enhances expression and function of surface IgM in CLL cells.

Aguilar-Hernandez MM, Blunt MD, Dobson R, Yeomans A, Thirdborough S, Larrayoz M, Smith LD, Linley A, Strefford JC, Davies A, Johnson PM, Savelyeva N, Cragg MS, Forconi F, Packham G, Stevenson FK, Steele AJ.

Blood. 2016 Jun 16;127(24):3015-25. doi: 10.1182/blood-2015-11-682906. Epub 2016 Mar 21.

31.

Mixing of discontinuously deforming media.

Smith LD, Rudman M, Lester DR, Metcalfe G.

Chaos. 2016 Feb;26(2):023113. doi: 10.1063/1.4941851.

PMID:
26931594
32.

Pregnancy among women with physical disabilities: Unmet needs and recommendations on navigating pregnancy.

Mitra M, Long-Bellil LM, Iezzoni LI, Smeltzer SC, Smith LD.

Disabil Health J. 2016 Jul;9(3):457-63. doi: 10.1016/j.dhjo.2015.12.007. Epub 2016 Jan 2.

33.

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.

Smith LD, Willig LK, Kingsmore SF.

Cold Spring Harb Perspect Med. 2015 Dec 18;6(2):a023168. doi: 10.1101/cshperspect.a023168. Review.

34.

Rapid whole genome sequencing and precision neonatology.

Petrikin JE, Willig LK, Smith LD, Kingsmore SF.

Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29. Review.

35.

Disparities in Adverse Preconception Risk Factors Between Women with and Without Disabilities.

Mitra M, Clements KM, Zhang J, Smith LD.

Matern Child Health J. 2016 Mar;20(3):507-15. doi: 10.1007/s10995-015-1848-1.

36.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT.

Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5.

37.

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF.

Genome Med. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8.

38.

The PI3K/mTOR inhibitor PF-04691502 induces apoptosis and inhibits microenvironmental signaling in CLL and the Eµ-TCL1 mouse model.

Blunt MD, Carter MJ, Larrayoz M, Smith LD, Aguilar-Hernandez M, Cox KL, Tipton T, Reynolds M, Murphy S, Lemm E, Dias S, Duncombe A, Strefford JC, Johnson PW, Forconi F, Stevenson FK, Packham G, Cragg MS, Steele AJ.

Blood. 2015 Jun 25;125(26):4032-41. doi: 10.1182/blood-2014-11-610329. Epub 2015 May 8.

39.

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF.

Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27.

40.

Assessing risk of hospital readmissions for improving medical practice.

Kulkarni P, Smith LD, Woeltje KF.

Health Care Manag Sci. 2016 Sep;19(3):291-9. doi: 10.1007/s10729-015-9323-5. Epub 2015 Apr 16.

PMID:
25876516
41.

An ethical framework for responding to drug shortages in pediatric oncology.

Beck JC, Smith LD, Gordon BG, Garrett JR.

Pediatr Blood Cancer. 2015 Jun;62(6):931-4. doi: 10.1002/pbc.25461. Epub 2015 Mar 2. Review.

PMID:
25732614
42.

An integrated transcriptome and expressed variant analysis of sepsis survival and death.

Tsalik EL, Langley RJ, Dinwiddie DL, Miller NA, Yoo B, van Velkinburgh JC, Smith LD, Thiffault I, Jaehne AK, Valente AM, Henao R, Yuan X, Glickman SW, Rice BJ, McClain MT, Carin L, Corey GR, Ginsburg GS, Cairns CB, Otero RM, Fowler VG Jr, Rivers EP, Woods CW, Kingsmore SF.

Genome Med. 2014 Nov 26;6(11):111. doi: 10.1186/s13073-014-0111-5. eCollection 2014.

43.

Online self-administered training of PTSD treatment providers in cognitive-behavioral intervention skills: results of a randomized controlled trial.

Ruzek JI, Rosen RC, Garvert DW, Smith LD, Sears KC, Marceau L, Harty B, Stoddard AM.

J Trauma Stress. 2014 Dec;27(6):703-11. doi: 10.1002/jts.21977.

PMID:
25522731
44.

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.

Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW.

Hum Mutat. 2015 Mar;36(3):301-6. doi: 10.1002/humu.22743. Erratum in: Hum Mutat. 2015 Jun;36(6):656.

45.

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF.

Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.

46.

A targeted oligonucleotide enhancer of SMN2 exon 7 splicing forms competing quadruplex and protein complexes in functional conditions.

Smith LD, Dickinson RL, Lucas CM, Cousins A, Malygin AA, Weldon C, Perrett AJ, Bottrill AR, Searle MS, Burley GA, Eperon IC.

Cell Rep. 2014 Oct 9;9(1):193-205. doi: 10.1016/j.celrep.2014.08.051. Epub 2014 Sep 25.

47.

A pharmacy asthma service achieves a change in patient responses from increased awareness to taking responsibility for their asthma.

Naik-Panvelkar P, Saini B, LeMay KS, Emmerton LM, Stewart K, Burton DL, Bosnic-Anticevich SZ, Krass I, Smith LD, Armour CL.

Int J Pharm Pract. 2015 Jun;23(3):182-91. doi: 10.1111/ijpp.12134. Epub 2014 Jul 4.

PMID:
24995681
48.

Building a business plan to support a transplantation pharmacy practice model.

Tichy EM, Pilch NA, Smith LD, Maldonado AQ, Taber DJ; American Society of Transplantation Pharmacy Community of Practice; American Society of Health-System Pharmacists Section of Clinical Specialists and Scientists Transplantation/Immunology Network; American College of Clinica Pharmacy Immunology/Transplantat ion Practice and Research Network.

Am J Health Syst Pharm. 2014 May 1;71(9):751-7. doi: 10.2146/ajhp130555. No abstract available.

PMID:
24733139
49.

BRCA1 exon 11 a model of long exon splicing regulation.

Raponi M, Smith LD, Silipo M, Stuani C, Buratti E, Baralle D.

RNA Biol. 2014;11(4):351-9. doi: 10.4161/rna.28458. Epub 2014 Mar 18.

50.

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Colombo M, Blok MJ, Whiley P, Santamariña M, Gutiérrez-Enríquez S, Romero A, Garre P, Becker A, Smith LD, De Vecchi G, Brandão RD, Tserpelis D, Brown M, Blanco A, Bonache S, Menéndez M, Houdayer C, Foglia C, Fackenthal JD, Baralle D, Wappenschmidt B; kConFaB Investigators, Díaz-Rubio E, Caldés T, Walker L, Díez O, Vega A, Spurdle AB, Radice P, De La Hoya M.

Hum Mol Genet. 2014 Jul 15;23(14):3666-80. doi: 10.1093/hmg/ddu075. Epub 2014 Feb 25.

PMID:
24569164

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