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Items: 1 to 50 of 332

1.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.

PMID:
30401460
2.

Insulin Injection Technique in China Compared with the Rest of the World.

Song Z, Guo X, Ji L, Huang X, Hirsch LJ, Strauss KW.

Diabetes Ther. 2018 Oct 30. doi: 10.1007/s13300-018-0525-y. [Epub ahead of print]

PMID:
30377996
3.

Correction to: Pediatric Insulin Injection Technique: A Multi-Country Survey and Clinical Practice Implications.

Kalra S, Hirsch LJ, Frid A, Deeb A, Strauss KW.

Diabetes Ther. 2018 Oct 29. doi: 10.1007/s13300-018-0528-8. [Epub ahead of print]

PMID:
30374708
4.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder M, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA.

Hum Mol Genet. 2018 Oct 9. doi: 10.1093/hmg/ddy344. [Epub ahead of print]

PMID:
30304524
5.

Validation of Adult Relative Radiation Levels Using the ACR Dose Index Registry: Report of the ACR Appropriateness Criteria Radiation Exposure Subcommittee.

Subcommittee on Appropriateness Criteria Radiation Exposure, Jordan DW, Becker MD, Brady S, Keenan MA, Rosen MP, Sengupta D, Strauss KJ, Cody DD.

J Am Coll Radiol. 2018 Sep 20. pii: S1546-1440(18)31000-7. doi: 10.1016/j.jacr.2018.08.008. [Epub ahead of print]

PMID:
30245216
6.

Pediatric Insulin Injection Technique: A Multi-Country Survey and Clinical Practice Implications.

Kalra S, Hirsch LJ, Frid A, Deeb A, Strauss KW.

Diabetes Ther. 2018 Sep 21. doi: 10.1007/s13300-018-0514-1. [Epub ahead of print] Erratum in: Diabetes Ther. 2018 Oct 29;:.

PMID:
30242612
7.

Utilization and Challenges of Continuous Glucose Monitoring in Sensor-Augmented Pump Therapy: A Patient Experience Analysis.

Deeb A, Ziaullah M, Akle M, Strauss K.

J Diabetes Sci Technol. 2018 Sep 21:1932296818801361. doi: 10.1177/1932296818801361. [Epub ahead of print] No abstract available.

PMID:
30239210
8.

Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.

Carson VJ, Puffenberger EG, Bowser LE, Brigatti KW, Young M, Korulczyk D, Rodrigues AS, Loeven KK, Strauss KA.

PLoS One. 2018 Sep 6;13(9):e0202104. doi: 10.1371/journal.pone.0202104. eCollection 2018.

9.

Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy.

Strauss KA, Carson VJ, Brigatti KW, Young M, Robinson DL, Hendrickson C, Fox MD, Reed RM, Puffenberger EG, Mackenzie W, Miller F.

J Pediatr Orthop. 2018 Nov/Dec;38(10):e610-e617. doi: 10.1097/BPO.0000000000001247.

PMID:
30134351
10.

Paediatric insulin injection technique: The softer side.

Kalra S, Deeb AA, Dhingra M, Strauss K.

J Pak Med Assoc. 2018 Aug;68(8):1270-1272.

11.

Erratum: Random access in large-scale DNA data storage.

Organick L, Ang SD, Chen YJ, Lopez R, Yekhanin S, Makarychev K, Racz MZ, Kamath G, Gopalan P, Nguyen B, Takahashi CN, Newman S, Parker HY, Rashtchian C, Stewart K, Gupta G, Carlson R, Mulligan J, Carmean D, Seelig G, Ceze L, Strauss K.

Nat Biotechnol. 2018 Jul 6;36(7):660. doi: 10.1038/nbt0718-660c. No abstract available.

PMID:
29979658
12.

Noncontrast Head CT in Children: National Variation in Radiation Dose Indices in the United States.

Sadigh G, Kadom N, Karthik P, Sengupta D, Strauss KJ, Frush D, Applegate KE.

AJNR Am J Neuroradiol. 2018 Aug;39(8):1400-1405. doi: 10.3174/ajnr.A5719. Epub 2018 Jul 5.

PMID:
29976832
13.

Turkish Insulin Injection Technique Study: Population Characteristics of Turkish Patients with Diabetes Who Inject Insulin and Details of Their Injection Practices as Assessed by Survey Questionnaire.

Dagdelen S, Deyneli O, Olgun N, Siva ZO, Sargin M, Hatun S, Kulaksizoglu M, Kaya A, Gürlek CA, Hirsch LJ, Strauss KW; ITQ Turkish Study Group.

Diabetes Ther. 2018 Aug;9(4):1629-1645. doi: 10.1007/s13300-018-0464-7. Epub 2018 Jun 30.

14.

Turkish Insulin Injection Techniques Study: Complications of Injecting Insulin Among Turkish Patients with Diabetes, Education They Received, and the Role of Health Care Professional as Assessed by Survey Questionnaire.

Dagdelen S, Deyneli O, Olgun N, Siva ZO, Sargin M, Hatun S, Kulaksizoglu M, Kaya A, Gürlek CA, Hirsch LJ, Strauss KW; ITQ Turkish Study Group.

Diabetes Ther. 2018 Aug;9(4):1615-1628. doi: 10.1007/s13300-018-0463-8. Epub 2018 Jun 30.

15.

TNNT1 nemaline myopathy: natural history and therapeutic frontier.

Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA.

Hum Mol Genet. 2018 Sep 15;27(18):3272-3282. doi: 10.1093/hmg/ddy233.

PMID:
29931346
16.

Using citizen science to bridge taxonomic discovery with education and outreach.

von Konrat M, Campbell T, Carter B, Greif M, Bryson M, Larraín J, Trouille L, Cohen S, Gaus E, Qazi A, Ribbens E, Livshultz T, Walker TJ, Suwa T, Peterson T, Rodriguez Y, Vaughn C, Yang C, Aburahmeh S, Carstensen B, de Lange P, Delavoi C, Strauss K, Drag J, Aguero B, Snyder C, Martinec J, Smith A.

Appl Plant Sci. 2018 Mar 9;6(2):e1023. doi: 10.1002/aps3.1023. eCollection 2018 Feb.

17.

Random access in large-scale DNA data storage.

Organick L, Ang SD, Chen YJ, Lopez R, Yekhanin S, Makarychev K, Racz MZ, Kamath G, Gopalan P, Nguyen B, Takahashi CN, Newman S, Parker HY, Rashtchian C, Stewart K, Gupta G, Carlson R, Mulligan J, Carmean D, Seelig G, Ceze L, Strauss K.

Nat Biotechnol. 2018 Mar;36(3):242-248. doi: 10.1038/nbt.4079. Epub 2018 Feb 19.

PMID:
29457795
18.

Using the American College of Radiology Dose Index Registry to Evaluate Practice Patterns and Radiation Dose Estimates of Pediatric Body CT.

Wildman-Tobriner B, Strauss KJ, Bhargavan-Chatfield M, Kadom N, Vock P, Applegate KE, Frush DP.

AJR Am J Roentgenol. 2018 Mar;210(3):641-647. doi: 10.2214/AJR.17.18122. Epub 2018 Jan 11.

PMID:
29323552
19.

Release and Decay Kinetics of Copeptin vs AVP in Response to Osmotic Alterations in Healthy Volunteers.

Fenske WK, Schnyder I, Koch G, Walti C, Pfister M, Kopp P, Fassnacht M, Strauss K, Christ-Crain M.

J Clin Endocrinol Metab. 2018 Feb 1;103(2):505-513. doi: 10.1210/jc.2017-01891.

PMID:
29267966
20.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG.

Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30.

21.

Hepatic Parenchymal Injury in Crigler-Najjar Type I.

Mitchell E, Ranganathan S, McKiernan P, Squires RH, Strauss K, Soltys K, Mazariegos G, Squires JE.

J Pediatr Gastroenterol Nutr. 2018 Apr;66(4):588-594. doi: 10.1097/MPG.0000000000001843.

PMID:
29176474
22.

Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.

Chowdhury D, Williams KB, Chidekel A, Pizarro C, Preedy C, Young M, Hendrickson C, Robinson DL, Kreiger PA, Puffenberger EG, Strauss KA.

J Pediatr. 2017 Dec;191:145-151. doi: 10.1016/j.jpeds.2017.08.073.

PMID:
29173298
23.

An Effective Intervention for Diabetic Lipohypertrophy: Results of a Randomized, Controlled, Prospective Multicenter Study in France.

Campinos C, Le Floch JP, Petit C, Penfornis A, Winiszewski P, Bordier L, Lepage M, Fermon C, Louis J, Almain C, Morel D, Hirsch L, Strauss KW.

Diabetes Technol Ther. 2017 Nov;19(11):623-632. doi: 10.1089/dia.2017.0165. Epub 2017 Oct 23.

24.

Metal-Promoted Assembly of Two Collagen Mimetic Peptides into a Biofunctional "Spiraled Horn" Scaffold.

Strauss K, Chmielewski J.

Materials (Basel). 2016 Oct 17;9(10). pii: E838. doi: 10.3390/ma9100838.

25.

Reconsidering the Value of Gonadal Shielding During Abdominal/Pelvic Radiography.

Strauss KJ, Gingold EL, Frush DP.

J Am Coll Radiol. 2017 Dec;14(12):1635-1636. doi: 10.1016/j.jacr.2017.06.018. Epub 2017 Jul 21. No abstract available.

PMID:
28739322
26.

Genomic diagnostics within a medically underserved population: efficacy and implications.

Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG.

Genet Med. 2018 Jan;20(1):31-41. doi: 10.1038/gim.2017.76. Epub 2017 Jul 20.

PMID:
28726809
27.

Gangliosides and hearing.

Inokuchi JI, Go S, Yoshikawa M, Strauss K.

Biochim Biophys Acta Gen Subj. 2017 Oct;1861(10):2485-2493. doi: 10.1016/j.bbagen.2017.05.025. Epub 2017 May 30.

PMID:
28571946
28.

Radiation Safety in Children With Congenital and Acquired Heart Disease: A Scientific Position Statement on Multimodality Dose Optimization From the Image Gently Alliance.

Hill KD, Frush DP, Han BK, Abbott BG, Armstrong AK, DeKemp RA, Glatz AC, Greenberg SB, Herbert AS, Justino H, Mah D, Mahesh M, Rigsby CK, Slesnick TC, Strauss KJ, Trattner S, Viswanathan MN, Einstein AJ; Image Gently Alliance.

JACC Cardiovasc Imaging. 2017 Jul;10(7):797-818. doi: 10.1016/j.jcmg.2017.04.003. Epub 2017 May 18. Review.

29.

Image Gently: Getting It Right.

Frush DP, Strauss KJ.

J Am Coll Radiol. 2017 Apr;14(4):575-576. doi: 10.1016/j.jacr.2017.02.052. No abstract available.

PMID:
28385275
30.

Indian Injection Technique Study: Population Characteristics and Injection Practices.

Kalra S, Mithal A, Sahay R, John M, Unnikrishnan AG, Saboo B, Ghosh S, Sanyal D, Hirsch LJ, Gupta V, Strauss KW.

Diabetes Ther. 2017 Jun;8(3):637-657. doi: 10.1007/s13300-017-0243-x. Epub 2017 Mar 13.

31.

Indian Injection Technique Study: Injecting Complications, Education, and the Health Care Professional.

Kalra S, Mithal A, Sahay R, John M, Unnikrishnan AG, Saboo B, Ghosh S, Sanyal D, Hirsch LJ, Gupta V, Strauss KW.

Diabetes Ther. 2017 Jun;8(3):659-672. doi: 10.1007/s13300-017-0244-9. Epub 2017 Mar 13.

32.

UK lipohypertrophy interventional study.

Smith M, Clapham L, Strauss K.

Diabetes Res Clin Pract. 2017 Apr;126:248-253. doi: 10.1016/j.diabres.2017.01.020. Epub 2017 Mar 2.

PMID:
28288434
33.

Pediatric Chest CT Diagnostic Reference Ranges: Development and Application.

Strauss KJ, Goske MJ, Towbin AJ, Sengupta D, Callahan MJ, Darge K, Podberesky DJ, Frush DP, Maxfield C, Westra SJ, Prince JS, Wu H, Bhargavan-Chatfield M.

Radiology. 2017 Jul;284(1):219-227. doi: 10.1148/radiol.2017161530. Epub 2017 Feb 17.

PMID:
28212059
34.

Advances in the design and higher-order assembly of collagen mimetic peptides for regenerative medicine.

Strauss K, Chmielewski J.

Curr Opin Biotechnol. 2017 Aug;46:34-41. doi: 10.1016/j.copbio.2016.10.013. Epub 2017 Jan 24. Review.

PMID:
28126669
35.

Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.

Aubert G, Strauss KA, Lansdorp PM, Rider NL.

J Allergy Clin Immunol. 2017 Oct;140(4):1120-1129.e1. doi: 10.1016/j.jaci.2016.11.051. Epub 2017 Jan 23.

PMID:
28126377
36.

Advances in the Decision to Image or Not to Image.

Callahan MJ, Strauss KJ.

JAMA Oncol. 2017 Apr 1;3(4):564-565. doi: 10.1001/jamaoncol.2016.5061. No abstract available.

PMID:
27930765
37.

The Think A-Head campaign: an introduction to ImageGently 2.0.

Frush DP, Benjamin LS, Kadom N, Macias CG, Snow SK, Gaskill SJ, Palmer E, Strauss KJ; Think A-Head Campaign Committee.

Pediatr Radiol. 2016 Dec;46(13):1774-1779. Epub 2016 Nov 4. No abstract available.

PMID:
27812745
38.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN.

Am J Hum Genet. 2016 Nov 3;99(5):1117-1129. doi: 10.1016/j.ajhg.2016.09.010. Epub 2016 Oct 20.

40.

New Insulin Delivery Recommendations.

Frid AH, Kreugel G, Grassi G, Halimi S, Hicks D, Hirsch LJ, Smith MJ, Wellhoener R, Bode BW, Hirsch IB, Kalra S, Ji L, Strauss KW.

Mayo Clin Proc. 2016 Sep;91(9):1231-55. doi: 10.1016/j.mayocp.2016.06.010. Review.

41.

Worldwide Injection Technique Questionnaire Study: Injecting Complications and the Role of the Professional.

Frid AH, Hirsch LJ, Menchior AR, Morel DR, Strauss KW.

Mayo Clin Proc. 2016 Sep;91(9):1224-30. doi: 10.1016/j.mayocp.2016.06.012. Review.

42.

Worldwide Injection Technique Questionnaire Study: Population Parameters and Injection Practices.

Frid AH, Hirsch LJ, Menchior AR, Morel DR, Strauss KW.

Mayo Clin Proc. 2016 Sep;91(9):1212-23. doi: 10.1016/j.mayocp.2016.06.011. Review.

43.

Skin and subcutaneous tissue thickness at insulin injection sites in Chinese diabetes patients: Clinical implications.

Wang W, Guo X, Shen G, Bai G, Wei Z, Liu J, Hirsch L, Strauss K.

Diabetes Metab. 2016 Nov;42(5):374-377. doi: 10.1016/j.diabet.2016.04.010. Epub 2016 Jun 8. No abstract available.

PMID:
27289143
44.

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.

Motzek A, Knežević J, Switzeny OJ, Cooper A, Barić I, Beluzić R, Strauss KA, Puffenberger EG, Mudd SH, Vugrek O, Zechner U.

PLoS One. 2016 Mar 14;11(3):e0151261. doi: 10.1371/journal.pone.0151261. eCollection 2016.

45.

Living related versus deceased donor liver transplantation for maple syrup urine disease.

Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS Jr, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA.

Mol Genet Metab. 2016 Mar;117(3):336-43. doi: 10.1016/j.ymgme.2016.01.005. Epub 2016 Jan 12.

PMID:
26786177
46.

An ultrasensitive reverse transcription polymerase chain reaction assay to detect asymptomatic low-density Plasmodium falciparum and Plasmodium vivax infections in small volume blood samples.

Adams M, Joshi SN, Mbambo G, Mu AZ, Roemmich SM, Shrestha B, Strauss KA, Johnson NE, Oo KZ, Hlaing TM, Han ZY, Han KT, Thura S, Richards AK, Huang F, Nyunt MM, Plowe CV.

Malar J. 2015 Dec 23;14:520. doi: 10.1186/s12936-015-1038-z.

47.

Comparison of pediatric radiation dose and vessel visibility on angiographic systems using piglets as a surrogate: antiscatter grid removal vs. lower detector air kerma settings with a grid - a preclinical investigation.

Strauss KJ, Racadio JM, Abruzzo TA, Johnson ND, Patel MN, Kukreja KU, den Hartog MJ, Hoonaert BP, Nachabe RA.

J Appl Clin Med Phys. 2015 Sep 8;16(5):408-417. doi: 10.1120/jacmp.v16i5.5379.

48.

Building a better mouse embryo assay: effects of mouse strain and in vitro maturation on sensitivity to contaminants of the culture environment.

Herrick JR, Paik T, Strauss KJ, Schoolcraft WB, Krisher RL.

J Assist Reprod Genet. 2016 Feb;33(2):237-45. doi: 10.1007/s10815-015-0623-y. Epub 2015 Dec 7.

49.

Accuracy and calibration of integrated radiation output indicators in diagnostic radiology: A report of the AAPM Imaging Physics Committee Task Group 190.

Lin PJ, Schueler BA, Balter S, Strauss KJ, Wunderle KA, LaFrance MT, Kim DS, Behrman RH, Shepard SJ, Bercha IH.

Med Phys. 2015 Dec;42(12):6815-29. doi: 10.1118/1.4934831.

PMID:
26632039
50.

Heritability of complex white matter diffusion traits assessed in a population isolate.

Kochunov P, Fu M, Nugent K, Wright SN, Du X, Muellerklein F, Morrissey M, Eskandar G, Shukla DK, Jahanshad N, Thompson PM, Patel B, Postolache TT, Strauss KA, Shuldiner AR, Mitchell BD, Hong LE.

Hum Brain Mapp. 2016 Feb;37(2):525-35. doi: 10.1002/hbm.23047. Epub 2015 Nov 5.

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