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Items: 1 to 50 of 229

1.

Diagnostic Utility of Pathological Investigations in Late Gestation Stillbirth: A Cohort Study.

Lou SK, Keating S, Kolomietz E, Shannon P.

Pediatr Dev Pathol. 2019 Jul 23:1093526619860353. doi: 10.1177/1093526619860353. [Epub ahead of print]

PMID:
31333057
2.

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.

Niles KM, Blaser S, Shannon P, Chitayat D.

Prenat Diagn. 2019 Aug;39(9):720-731. doi: 10.1002/pd.5505. Epub 2019 Jul 16.

PMID:
31218730
3.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Dupont MA, Humbert C, Huber C, Siour Q, Guerrera IC, Jung V, Christensen A, Pouliet A, Garfa-Traoré M, Nitschké P, Injeyan M, Millar K, Chitayat D, Shannon P, Girisha KM, Shukla A, Mechler C, Lorentzen E, Benmerah A, Cormier-Daire V, Jeanpierre C, Saunier S, Delous M.

Hum Mol Genet. 2019 Aug 15;28(16):2720-2737. doi: 10.1093/hmg/ddz091.

PMID:
31042281
4.

Reproducible big data science: A case study in continuous FAIRness.

Madduri R, Chard K, D'Arcy M, Jung SC, Rodriguez A, Sulakhe D, Deutsch E, Funk C, Heavner B, Richards M, Shannon P, Glusman G, Price N, Kesselman C, Foster I.

PLoS One. 2019 Apr 11;14(4):e0213013. doi: 10.1371/journal.pone.0213013. eCollection 2019.

5.

Single-Cell Proteomics Reveal that Quantitative Changes in Co-expressed Lineage-Specific Transcription Factors Determine Cell Fate.

Palii CG, Cheng Q, Gillespie MA, Shannon P, Mazurczyk M, Napolitani G, Price ND, Ranish JA, Morrissey E, Higgs DR, Brand M.

Cell Stem Cell. 2019 May 2;24(5):812-820.e5. doi: 10.1016/j.stem.2019.02.006. Epub 2019 Mar 14.

PMID:
30880026
6.

Genome-Scale Transcriptional Regulatory Network Models of Psychiatric and Neurodegenerative Disorders.

Pearl JR, Colantuoni C, Bergey DE, Funk CC, Shannon P, Basu B, Casella AM, Oshone RT, Hood L, Price ND, Ament SA.

Cell Syst. 2019 Feb 27;8(2):122-135.e7. doi: 10.1016/j.cels.2019.01.002. Epub 2019 Feb 13.

PMID:
30772379
7.

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D.

Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16.

PMID:
30652412
8.

Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes.

Shuster S, Keunen J, Shannon P, Watkins N, Chong K, Chitayat D.

Prenat Diagn. 2019 Aug;39(9):693-700. doi: 10.1002/pd.5418. Epub 2019 Feb 20.

PMID:
30650191
9.

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome.

Kinnear C, Haranal M, Shannon P, Jaeggi E, Chitayat D, Mital S.

Prenat Diagn. 2019 Jan;39(1):38-44. doi: 10.1002/pd.5395. Epub 2018 Dec 27.

10.

Fetal myelomeningocele surgery: Only treating the tip of the iceberg.

AlRefai A, Drake J, Kulkarni AV, Connor KL, Shannon P, Toi A, Chitayat D, Blaser S, Church PT, Abbasi N, Ryan G, Van Mieghem T.

Prenat Diagn. 2019 Jan;39(1):10-15. doi: 10.1002/pd.5390. Epub 2018 Dec 10.

PMID:
30536580
11.

Defining effective care coordination for mental health referrals of refugee populations in the United States.

Shannon PJ, Vinson GA, Horn TL, Lennon E.

Ethn Health. 2018 Nov 19:1-19. doi: 10.1080/13557858.2018.1547369. [Epub ahead of print]

PMID:
30453749
12.

Support for UNRWA's survival.

Blanchet K, El-Zein A, Langer A, Sato M; 159 signatories.

Lancet. 2018 Sep 22;392(10152):1009-1010. doi: 10.1016/S0140-6736(18)32264-5. Epub 2018 Sep 12. No abstract available.

13.

Analysis and visualization of linked molecular and clinical cancer data by using Oncoscape.

McFerrin LG, Zager M, Zhang J, Krenn G, McDermott R, Horse-Grant D, Silgard E, Colevas K, Shannon P, Bolouri H, Holland EC.

Nat Genet. 2018 Sep;50(9):1203-1204. doi: 10.1038/s41588-018-0208-7. No abstract available.

PMID:
30158685
14.

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

Chitayat D, Shannon P, Uster T, Nezarati MM, Schnur RE, Bhoj EJ.

Am J Med Genet A. 2018 Sep;176(9):2041-2043. doi: 10.1002/ajmg.a.40360. Epub 2018 Aug 2. No abstract available.

PMID:
30070761
15.

Multiscale Analysis of Independent Alzheimer's Cohorts Finds Disruption of Molecular, Genetic, and Clinical Networks by Human Herpesvirus.

Readhead B, Haure-Mirande JV, Funk CC, Richards MA, Shannon P, Haroutunian V, Sano M, Liang WS, Beckmann ND, Price ND, Reiman EM, Schadt EE, Ehrlich ME, Gandy S, Dudley JT.

Neuron. 2018 Jul 11;99(1):64-82.e7. doi: 10.1016/j.neuron.2018.05.023. Epub 2018 Jun 21.

16.

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Inbar-Feigenberg M, Blaser S, Hawkins C, Shannon P, Hewson S, Chitayat D.

Metab Brain Dis. 2018 Aug;33(4):1369-1373. doi: 10.1007/s11011-018-0218-2. Epub 2018 Mar 25.

PMID:
29574624
17.

Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome.

Chong K, Saleh M, Injeyan M, Miron I, Fong K, Shannon P.

Prenat Diagn. 2018 Jan;38(2):117-122. doi: 10.1002/pd.5198. Epub 2018 Jan 24.

PMID:
29240237
18.

Ocean-wide Drivers of Migration Strategies and Their Influence on Population Breeding Performance in a Declining Seabird.

Fayet AL, Freeman R, Anker-Nilssen T, Diamond A, Erikstad KE, Fifield D, Fitzsimmons MG, Hansen ES, Harris MP, Jessopp M, Kouwenberg AL, Kress S, Mowat S, Perrins CM, Petersen A, Petersen IK, Reiertsen TK, Robertson GJ, Shannon P, Sigurðsson IA, Shoji A, Wanless S, Guilford T.

Curr Biol. 2017 Dec 18;27(24):3871-3878.e3. doi: 10.1016/j.cub.2017.11.009. Epub 2017 Nov 30.

19.

An unexpected but underestimated case of disseminated toxoplasmosis.

Chan T, Shannon PT, Detsky ME.

Transpl Infect Dis. 2018 Feb;20(1). doi: 10.1111/tid.12818. Epub 2018 Jan 16.

PMID:
29156082
20.

Community pharmacist collaboration with a patient-centered medical home: Establishment of a patient-centered medical neighborhood and payment model.

Luder HR, Shannon P, Kirby J, Frede SM.

J Am Pharm Assoc (2003). 2018 Jan - Feb;58(1):44-50. doi: 10.1016/j.japh.2017.10.006. Epub 2017 Nov 15.

PMID:
29153853
21.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.

Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.

22.

Routine Health Screening: To Continue or To Discontinue?

P S.

Am J Nurs. 2017 Nov;117(11):10. doi: 10.1097/01.NAJ.0000526726.29915.56. No abstract available.

PMID:
29076833
23.

Severe phenotype of X-linked dominant chondrodysplasia punctata.

Damseh N, Chong K, Marshall C, Kratz L, Teitelbaum R, Shannon P, Kannu P.

Clin Case Rep. 2017 Jul 20;5(9):1435-1437. doi: 10.1002/ccr3.1008. eCollection 2017 Sep.

24.

Spatiotemporal Proteomic Profiling of Human Cerebral Development.

Djuric U, Rodrigues DC, Batruch I, Ellis J, Shannon P, Diamandis P.

Mol Cell Proteomics. 2017 Sep;16(9):1548-1562. doi: 10.1074/mcp.M116.066274. Epub 2017 Jul 7.

25.

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE.

Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033.

26.

Critical Illness-Associated Cerebral Microbleeds.

Fanou EM, Coutinho JM, Shannon P, Kiehl TR, Levi MM, Wilcox ME, Aviv RI, Mandell DM.

Stroke. 2017 Apr;48(4):1085-1087. doi: 10.1161/STROKEAHA.116.016289. Epub 2017 Feb 24.

PMID:
28235962
27.

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

Feingold-Zadok M, Chitayat D, Chong K, Injeyan M, Shannon P, Chapmann D, Maymon R, Pillar N, Reish O.

Prenat Diagn. 2017 Feb;37(2):144-150. doi: 10.1002/pd.4977. Epub 2017 Jan 25.

PMID:
27933661
28.

HLA Matching Trumps Donor Age: Donor-Recipient Pairing Characteristics That Impact Long-Term Success in Living Donor Kidney Transplantation in the Era of Paired Kidney Exchange.

Milner J, Melcher ML, Lee B, Veale J, Ronin M, D'Alessandro T, Hil G, Fry PC, Shannon PW.

Transplant Direct. 2016 Jun 6;2(7):e85. eCollection 2016 Jul.

29.

Treatment satisfaction in cystic fibrosis: early patient experience with tobramycin inhalation powder.

Greenberg J, Palmer JB, Chan WW, Correia CE, Whalley D, Shannon P, Sawicki GS.

Patient Prefer Adherence. 2016 Oct 26;10:2163-2169. eCollection 2016.

30.

The pathology of incipient polymicrogyria.

Diamandis P, Chitayat D, Toi A, Blaser S, Shannon P.

Brain Dev. 2017 Jan;39(1):23-39. doi: 10.1016/j.braindev.2016.06.005. Epub 2016 Jul 9.

PMID:
27406708
31.

Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: A three-year retrospective study resulting in an efficient protocol.

Wou K, Hyun Y, Chitayat D, Vlasschaert M, Chong K, Wasim S, Keating S, Shannon P, Kolomietz E.

Eur J Med Genet. 2016 Aug;59(8):417-24. doi: 10.1016/j.ejmg.2016.05.011. Epub 2016 May 24.

PMID:
27233578
32.

CyREST: Turbocharging Cytoscape Access for External Tools via a RESTful API.

Ono K, Muetze T, Kolishovski G, Shannon P, Demchak B.

F1000Res. 2015 Aug 5;4:478. doi: 10.12688/f1000research.6767.1. eCollection 2015.

33.

Connecting Refugees to Substance Use Treatment: A Qualitative Study.

McCleary JS, Shannon PJ, Cook TL.

Soc Work Public Health. 2016;31(1):1-8. doi: 10.1080/19371918.2015.1087906. Epub 2015 Dec 14.

34.

Validation of a brief mental health screener for Karen refugees in primary care.

Brink DR, Shannon PJ, Vinson GA.

Fam Pract. 2016 Feb;33(1):107-11. doi: 10.1093/fampra/cmv093. Epub 2015 Nov 26.

PMID:
26613619
35.

Comparison of Immune Profiles in Fetal Hearts with Idiopathic Dilated Cardiomyopathy, Maternal Autoimmune-Associated Dilated Cardiomyopathy and the Normal Fetus.

Nield LE, von Both I, Popel N, Strachan K, Manlhiot C, Shannon P, McCrindle BW, Atkinson A, Miner SE, Jaeggi ET, Taylor GP.

Pediatr Cardiol. 2016 Feb;37(2):353-63. doi: 10.1007/s00246-015-1284-4. Epub 2015 Oct 20.

PMID:
26481221
36.

The ontogeny of P-glycoprotein in the developing human blood-brain barrier: implication for opioid toxicity in neonates.

Lam J, Baello S, Iqbal M, Kelly LE, Shannon PT, Chitayat D, Matthews SG, Koren G.

Pediatr Res. 2015 Oct;78(4):417-21. doi: 10.1038/pr.2015.119. Epub 2015 Jun 18.

PMID:
26086643
37.

War trauma and torture experiences reported during public health screening of newly resettled Karen refugees: a qualitative study.

Cook TL, Shannon PJ, Vinson GA, Letts JP, Dwee E.

BMC Int Health Hum Rights. 2015 Apr 8;15:8. doi: 10.1186/s12914-015-0046-y.

38.

The BMA should apply itself to solving the NHS's productivity problem.

Shannon PE.

BMJ. 2015 Mar 30;350:h1672. doi: 10.1136/bmj.h1672. No abstract available.

PMID:
25825409
39.

Characteristics of Successful and Unsuccessful Mental Health Referrals of Refugees.

Shannon PJ, Vinson GA, Cook TL, Lennon E.

Adm Policy Ment Health. 2016 Jul;43(4):555-68. doi: 10.1007/s10488-015-0639-8.

40.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

41.

Orchestrating high-throughput genomic analysis with Bioconductor.

Huber W, Carey VJ, Gentleman R, Anders S, Carlson M, Carvalho BS, Bravo HC, Davis S, Gatto L, Girke T, Gottardo R, Hahne F, Hansen KD, Irizarry RA, Lawrence M, Love MI, MacDonald J, Obenchain V, Oleś AK, Pagès H, Reyes A, Shannon P, Smyth GK, Tenenbaum D, Waldron L, Morgan M.

Nat Methods. 2015 Feb;12(2):115-21. doi: 10.1038/nmeth.3252. Review.

42.

Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.

Tonni G, Lituania M, Chitayat D, Bonasoni MP, Keating S, Thompson M, Shannon P.

Taiwan J Obstet Gynecol. 2014 Dec;53(4):592-7. doi: 10.1016/j.tjog.2014.01.005.

43.

Development and validation of a cost-utility model for Type 1 diabetes mellitus.

Wolowacz S, Pearson I, Shannon P, Chubb B, Gundgaard J, Davies M, Briggs A.

Diabet Med. 2015 Aug;32(8):1023-35. doi: 10.1111/dme.12663. Epub 2015 Feb 13.

PMID:
25484028
44.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. Erratum in: J Clin Invest. 2015 Jan;125(1):456-7.

45.

Exploring the mental health effects of political trauma with newly arrived refugees.

Shannon PJ, Wieling E, McCleary JS, Becher E.

Qual Health Res. 2015 Apr;25(4):443-57. doi: 10.1177/1049732314549475. Epub 2014 Sep 2.

PMID:
25185161
46.

Fetal syringomyelia.

Guo A, Chitayat D, Blaser S, Keating S, Shannon P.

Acta Neuropathol Commun. 2014 Aug 6;2:91. doi: 10.1186/s40478-014-0091-0.

47.

Refugees' advice to physicians: how to ask about mental health.

Shannon PJ.

Fam Pract. 2014 Aug;31(4):462-6. doi: 10.1093/fampra/cmu017. Epub 2014 May 12.

PMID:
24820520
48.

VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants.

Obenchain V, Lawrence M, Carey V, Gogarten S, Shannon P, Morgan M.

Bioinformatics. 2014 Jul 15;30(14):2076-8. doi: 10.1093/bioinformatics/btu168. Epub 2014 Mar 28.

49.

Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia.

Wang DC, Shannon P, Toi A, Chitayat D, Mohan U, Barkova E, Keating S, Tomlinson G, Glanc P.

Ultrasound Obstet Gynecol. 2014 Nov;44(5):588-94. doi: 10.1002/uog.13337. Epub 2014 Oct 13.

50.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP.

Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22.

PMID:
24056717

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