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Items: 1 to 50 of 438

1.

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.

Cheon S, Kaur K, Nijem N, Tuncay IO, Kumar P, Dean M, Juusola J, Guillen-Sacoto MJ, Bedoukian E, Ierardi-Curto L, Kaplan P, Schaefer GB, Mishra P, Chahrour MH.

Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3662-3667. doi: 10.1073/pnas.1818751116. Epub 2019 Feb 11.

PMID:
30808755
2.

Management of penetrating intraperitoneal colon injuries: A meta-analysis and practice management guideline from the Eastern Association for the Surgery of Trauma.

Cullinane DC, Jawa RS, Como JJ, Moore AE, Morris DS, Cheriyan J, Guillamondegui OD, Goldberg SR, Petrey L, Schaefer GP, Khwaja KA, Rowell SE, Barbosa RR, Bass GA, Kasotakis G, Robinson BRH.

J Trauma Acute Care Surg. 2019 Mar;86(3):505-515. doi: 10.1097/TA.0000000000002146.

PMID:
30789470
3.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009. No abstract available.

4.

Management of penetrating intra-peritoneal colon injuries: A meta-analysis and practice management guideline from the Eastern Association for the Surgery of Trauma.

Cullinane DC, Jawa RS, Como JJ, Moore A, Morris DS, Cheriyan J, Guillamondegui OD, Goldberg SR, Petrey L, Schaefer G, Khwaja KA, Rowell SE, Barbosa RR, Bass GA, Kasotakis G, Robinson BR.

J Trauma Acute Care Surg. 2018 Nov 20. doi: 10.1097/TA.0000000000002146. [Epub ahead of print]

PMID:
30475296
5.

Fusing fine-tuned deep features for skin lesion classification.

Mahbod A, Schaefer G, Ellinger I, Ecker R, Pitiot A, Wang C.

Comput Med Imaging Graph. 2019 Jan;71:19-29. doi: 10.1016/j.compmedimag.2018.10.007. Epub 2018 Nov 3.

PMID:
30458354
6.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2018 Dec 6;103(6):1054-1055.

PMID:
30343942
7.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8.

PMID:
30275510
8.

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.

Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ.

Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28.

PMID:
30268864
9.

The STAT3 Inhibitor Galiellalactone Reduces IL6-Mediated AR Activity in Benign and Malignant Prostate Models.

Handle F, Puhr M, Schaefer G, Lorito N, Hoefer J, Gruber M, Guggenberger F, Santer FR, Marques RB, van Weerden WM, Claessens F, Erb HHH, Culig Z.

Mol Cancer Ther. 2018 Dec;17(12):2722-2731. doi: 10.1158/1535-7163.MCT-18-0508. Epub 2018 Sep 25.

PMID:
30254184
10.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2018 Sep 7. doi: 10.1038/s41436-018-0269-0. [Epub ahead of print] Erratum in: Genet Med. 2019 Mar;21(3):764-765.

PMID:
30190611
11.

The need for donor consent in mitochondrial replacement.

Schaefer GO.

J Med Ethics. 2018 Dec;44(12):825-829. doi: 10.1136/medethics-2017-104661. Epub 2018 Jul 12.

PMID:
30002143
12.

McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders.

Walters WD, Garnica AD, Schaefer GB.

Semin Pediatr Neurol. 2018 Jul;26:50-51. doi: 10.1016/j.spen.2017.03.004. Epub 2017 Apr 1.

PMID:
29961518
13.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R.

Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.

PMID:
29925855
14.

Evaluation of occlusal caries detection and assessment by visual inspection, digital bitewing radiography and near-infrared light transillumination.

Schaefer G, Pitchika V, Litzenburger F, Hickel R, Kühnisch J.

Clin Oral Investig. 2018 Sep;22(7):2431-2438. doi: 10.1007/s00784-018-2512-0. Epub 2018 Jun 18. Review.

PMID:
29915930
15.

Antifibrinolytics in a rural trauma state: assessing the opportunities.

Bardes JM, Palmer A, Con J, Wilson A, Schaefer G.

Trauma Surg Acute Care Open. 2017 Oct 5;2(1):e000107. doi: 10.1136/tsaco-2017-000107. eCollection 2017.

16.

Longitudinal Ultrasound Curriculum Incorporation at West Virginia University School of Medicine: A Description and Graduating Students' Perceptions.

Minardi J, Ressetar H, Foreman T, Craig K, Sharon M, Bassler J, Davis S, Machi A, Cottrell S, Denne N, Ferrari N, Landreth K, Palmer B, Schaefer G, Tallaksen R, Wilks D, Williams D.

J Ultrasound Med. 2019 Jan;38(1):63-72. doi: 10.1002/jum.14662. Epub 2018 May 6.

PMID:
29732601
17.

The Right to Know: A Revised Standard for Reporting Incidental Findings.

Schaefer GO, Savulescu J.

Hastings Cent Rep. 2018 Mar;48(2):22-32. doi: 10.1002/hast.836.

18.

A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.

Nembhard WN, Tang X, Li J, MacLeod SL, Levy J, Schaefer GB, Hobbs CA; National Birth Defects Prevention Study.

Am J Med Genet A. 2018 Mar;176(3):609-617. doi: 10.1002/ajmg.a.38611. Epub 2018 Feb 5.

19.

Correction: Combined MEK and ERK inhibition overcomes therapy-mediated pathway reactivation in RAS mutant tumors.

Merchant M, Moffat J, Schaefer G, Chan J, Wang X, Orr C, Cheng J, Hunsaker T, Shao L, Wang SJ, Wagle MC, Lin E, Haverty PM, Shahidi-Latham S, Ngu H, Solon M, Eastham-Anderson J, Koeppen H, Huang SA, Schwarz J, Belvin M, Kirouac D, Junttila MR.

PLoS One. 2018 Jan 25;13(1):e0192059. doi: 10.1371/journal.pone.0192059. eCollection 2018.

20.

The Reply.

Seymann G, El-Kareh R, Schaefer G, Quartarolo J.

Am J Med. 2018 Feb;131(2):e77. doi: 10.1016/j.amjmed.2017.09.037. No abstract available.

PMID:
29362112
21.

Consent and the ethical duty to participate in health data research.

Ballantyne A, Schaefer GO.

J Med Ethics. 2018 Jun;44(6):392-396. doi: 10.1136/medethics-2017-104550. Epub 2018 Jan 22.

PMID:
29358219
22.

The Glucocorticoid Receptor Is a Key Player for Prostate Cancer Cell Survival and a Target for Improved Antiandrogen Therapy.

Puhr M, Hoefer J, Eigentler A, Ploner C, Handle F, Schaefer G, Kroon J, Leo A, Heidegger I, Eder I, Culig Z, Van der Pluijm G, Klocker H.

Clin Cancer Res. 2018 Feb 15;24(4):927-938. doi: 10.1158/1078-0432.CCR-17-0989. Epub 2017 Nov 20.

23.

The virulence-associated protein HsvA from the fire blight pathogen Erwinia amylovora is a polyamine amidinotransferase.

Shanker S, Schaefer GK, Barnhart BK, Wallace-Kneale VL, Chang D, Coyle TJ, Metzler DA, Huang J, Lawton JA.

J Biol Chem. 2017 Dec 29;292(52):21366-21380. doi: 10.1074/jbc.M117.815951. Epub 2017 Nov 9.

24.

Better Minds, Better Morals: A Procedural Guide to Better Judgment.

Schaefer GO, Savulescu J.

J Posthum Stud. 2017;1(1):26-43. doi: 10.5325/jpoststud.1.1.0026.

25.

Combined MEK and ERK inhibition overcomes therapy-mediated pathway reactivation in RAS mutant tumors.

Merchant M, Moffat J, Schaefer G, Chan J, Wang X, Orr C, Cheng J, Hunsaker T, Shao L, Wang SJ, Wagle MC, Lin E, Haverty PM, Shahidi-Latham S, Ngu H, Solon M, Eastham-Anderson J, Koeppen H, Huang SA, Schwarz J, Belvin M, Kirouac D, Junttila MR.

PLoS One. 2017 Oct 5;12(10):e0185862. doi: 10.1371/journal.pone.0185862. eCollection 2017. Erratum in: PLoS One. 2018 Jan 25;13(1):e0192059.

26.

Distributed Task Rescheduling With Time Constraints for the Optimization of Total Task Allocations in a Multirobot System.

Turner J, Meng Q, Schaefer G, Whitbrook A, Soltoggio A.

IEEE Trans Cybern. 2018 Sep;48(9):2583-2597. doi: 10.1109/TCYB.2017.2743164. Epub 2017 Sep 28.

PMID:
28976326
27.

Genetic affinity and the right to 'three-parent IVF'.

Schaefer GO, Labude MK.

J Assist Reprod Genet. 2017 Dec;34(12):1577-1580. doi: 10.1007/s10815-017-1046-8. Epub 2017 Sep 18.

28.

Erratum: Clinical responses to ERK inhibition in BRAFV600E-mutant colorectal cancer predicted using a computational model.

Kirouac DC, Schaefer G, Chan J, Merchant M, Orr C, Huang SA, Moffat J, Liu L, Gadkar K, Ramanujan S.

NPJ Syst Biol Appl. 2017 Sep 4;3:25. doi: 10.1038/s41540-017-0026-z. eCollection 2017.

29.

Urinary UBC Rapid and NMP22 Test for Bladder Cancer Surveillance in Comparison to Urinary Cytology: Results from a Prospective Single-Center Study.

Pichler R, Tulchiner G, Fritz J, Schaefer G, Horninger W, Heidegger I.

Int J Med Sci. 2017 Jul 19;14(9):811-819. doi: 10.7150/ijms.19929. eCollection 2017.

30.

Astronomy: A turbulent stellar atmosphere in full view.

Schaefer GH.

Nature. 2017 Aug 16;548(7667):288-289. doi: 10.1038/548288a. No abstract available.

PMID:
28816252
31.

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA.

Am J Med Genet A. 2017 Oct;173(10):2814-2820. doi: 10.1002/ajmg.a.38404. Epub 2017 Aug 17.

PMID:
28815955
32.

Clinical responses to ERK inhibition in BRAFV600E-mutant colorectal cancer predicted using a computational model.

Kirouac DC, Schaefer G, Chan J, Merchant M, Orr C, Huang SA, Moffat J, Liu L, Gadkar K, Ramanujan S.

NPJ Syst Biol Appl. 2017 Jun 2;3:14. doi: 10.1038/s41540-017-0016-1. eCollection 2017. Erratum in: NPJ Syst Biol Appl. 2017 Sep 4;3:25.

33.

"Two-in-One" approach for bioassay selection for dual specificity antibodies.

Lee HY, Schaefer G, Lesaca I, Lee CV, Wong PY, Jiang G.

J Immunol Methods. 2017 Sep;448:74-79. doi: 10.1016/j.jim.2017.05.011. Epub 2017 Jun 1.

PMID:
28579366
34.

Evaluation of the Yale New Haven Readmission Risk Score for Pneumonia in a General Hospital Population.

Schaefer G, El-Kareh R, Quartarolo J, Seymann G.

Am J Med. 2017 Sep;130(9):1107-1111.e1. doi: 10.1016/j.amjmed.2017.04.039. Epub 2017 May 22.

PMID:
28545885
35.

A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.

Hardin JS, Schaefer GB, Sallam AB, Williams MK, Uwaydat S.

Ophthalmic Genet. 2017 Dec;38(6):570-574. doi: 10.1080/13816810.2017.1318926. Epub 2017 May 8.

PMID:
28481155
36.

A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team.

Kubendran S, Sivamurthy S, Schaefer GB.

Genet Med. 2017 Nov;19(11):1260-1267. doi: 10.1038/gim.2017.45. Epub 2017 Apr 27.

37.

Erythropoietin and Brain Magnetic Resonance Imaging Findings in Hypoxic-Ischemic Encephalopathy: Volume of Acute Brain Injury and 1-Year Neurodevelopmental Outcome.

Mulkey SB, Ramakrishnaiah RH, McKinstry RC, Chang T, Mathur AM, Mayock DE, Van Meurs KP, Schaefer GB, Luo C, Bai S, Juul SE, Wu YW.

J Pediatr. 2017 Jul;186:196-199. doi: 10.1016/j.jpeds.2017.03.053. Epub 2017 Apr 26.

PMID:
28456387
38.

Effect of Urinary Cytology for Detecting Recurrence in Remnant Urothelium After Radical Cystectomy: Insights From a 10-year Cytology Database.

Pichler R, Tulchiner G, Oberaigner W, Schaefer G, Horninger W, Brunner A, Heidegger I.

Clin Genitourin Cancer. 2017 Oct;15(5):e783-e791. doi: 10.1016/j.clgc.2017.03.003. Epub 2017 Mar 30.

39.

Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.

Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D.

Am J Med Genet A. 2017 May;173(5):1378-1382. doi: 10.1002/ajmg.a.38181. Epub 2017 Mar 28.

PMID:
28371479
40.

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.

Vivero M, Cho MT, Begtrup A, Wentzensen IM, Walsh L, Payne K, Zarate YA, Bosanko K, Schaefer GB, DeBrosse S, Pollack L, Mason K, Retterer K, DeWard S, Juusola J, Chung WK.

Clin Genet. 2017 Jun;91(6):929-931. doi: 10.1111/cge.12899. Epub 2017 Jan 30. No abstract available.

PMID:
28133733
41.

Multimodal Regulation of NET Formation in Pregnancy: Progesterone Antagonizes the Pro-NETotic Effect of Estrogen and G-CSF.

Giaglis S, Stoikou M, Sur Chowdhury C, Schaefer G, Grimolizzi F, Rossi SW, Hoesli IM, Lapaire O, Hasler P, Hahn S.

Front Immunol. 2016 Dec 5;7:565. eCollection 2016.

42.

Phosphorus seasonal sorption-desorption kinetics in suspended sediment in response to land use and management in the Guaporé catchment, Southern Brazil.

Zafar M, Tiecher T, de Castro Lima JA, Schaefer GL, Santanna MA, Dos Santos DR.

Environ Monit Assess. 2016 Nov;188(11):643. Epub 2016 Oct 28.

PMID:
27796828
44.

High cell-surface density of HER2 deforms cell membranes.

Chung I, Reichelt M, Shao L, Akita RW, Koeppen H, Rangell L, Schaefer G, Mellman I, Sliwkowski MX.

Nat Commun. 2016 Sep 7;7:12742. doi: 10.1038/ncomms12742.

45.

Discovery of a Noncovalent, Mutant-Selective Epidermal Growth Factor Receptor Inhibitor.

Chan BK, Hanan EJ, Bowman KK, Bryan MC, Burdick D, Chan E, Chen Y, Clausen S, Dela Vega T, Dotson J, Eigenbrot C, Elliott RL, Heald RA, Jackson PS, Knight JD, La H, Lainchbury MD, Malek S, Purkey HE, Schaefer G, Schmidt S, Seward EM, Sideris S, Shao L, Wang S, Yeap SK, Yen I, Yu C, Heffron TP.

J Med Chem. 2016 Oct 13;59(19):9080-9093. Epub 2016 Sep 12.

PMID:
27564586
46.

Persistent Bacillus cereus Bacteremia in 3 Persons Who Inject Drugs, San Diego, California, USA.

Schaefer G, Campbell W, Jenks J, Beesley C, Katsivas T, Hoffmaster A, Mehta SR, Reed S.

Emerg Infect Dis. 2016 Sep;22(9):1621-3. doi: 10.3201/eid2209.150647.

47.

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

Lam WW, Millichap JJ, Soares DC, Chin R, McLellan A, FitzPatrick DR, Elmslie F, Lees MM, Schaefer GB; DDD study, Abbott CM.

Mol Genet Genomic Med. 2016 Apr 3;4(4):465-74. doi: 10.1002/mgg3.219. eCollection 2016 Jul.

48.

Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.

Sellars EA, Sullivan BR, Schaefer GB.

Clin Case Rep. 2016 Jun 10;4(7):696-8. doi: 10.1002/ccr3.598. eCollection 2016 Jul.

49.

The brain imaging data structure, a format for organizing and describing outputs of neuroimaging experiments.

Gorgolewski KJ, Auer T, Calhoun VD, Craddock RC, Das S, Duff EP, Flandin G, Ghosh SS, Glatard T, Halchenko YO, Handwerker DA, Hanke M, Keator D, Li X, Michael Z, Maumet C, Nichols BN, Nichols TE, Pellman J, Poline JB, Rokem A, Schaefer G, Sochat V, Triplett W, Turner JA, Varoquaux G, Poldrack RA.

Sci Data. 2016 Jun 21;3:160044. doi: 10.1038/sdata.2016.44.

50.

Lessons from a pair of siblings with BPAN.

Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC.

Eur J Hum Genet. 2016 Jul;24(7):1095. doi: 10.1038/ejhg.2015.274. No abstract available.

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