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225 results

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Page 1
CRISPRz: a database of zebrafish validated sgRNAs.
Varshney GK, Zhang S, Pei W, Adomako-Ankomah A, Fohtung J, Schaffer K, Carrington B, Maskeri A, Slevin C, Wolfsberg T, Ledin J, Sood R, Burgess SM. Varshney GK, et al. Among authors: schaffer k. Nucleic Acids Res. 2016 Jan 4;44(D1):D822-6. doi: 10.1093/nar/gkv998. Epub 2015 Oct 4. Nucleic Acids Res. 2016. PMID: 26438539 Free PMC article.
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, Robinson PN, Haendel MA, Zhai RG, Boerkoel CF. Gall T, et al. Among authors: schaffer k. Front Med (Lausanne). 2017 May 26;4:62. doi: 10.3389/fmed.2017.00062. eCollection 2017. Front Med (Lausanne). 2017. PMID: 28603714 Free PMC article.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Phenotypic evolution of UNC80 loss of function.
Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. Valkanas E, et al. Among authors: schaffer k. Am J Med Genet A. 2016 Dec;170(12):3106-3114. doi: 10.1002/ajmg.a.37929. Epub 2016 Aug 11. Am J Med Genet A. 2016. PMID: 27513830 Free PMC article.
Medical influence: what does success look like?
Wintz D, Wright K, Schaffer KB. Wintz D, et al. Among authors: schaffer kb. Palliat Care Soc Pract. 2024 Nov 12;18:26323524241297695. doi: 10.1177/26323524241297695. eCollection 2024. Palliat Care Soc Pract. 2024. PMID: 39539771 Free PMC article.
Incidence and Outcomes of Pregnant Trauma Patients With Positive Urine Toxicology: A Southern California Multicenter Study.
Clark I, Nahmias J, Jebbia M, Aryan N, Lucas AN, Fierro N, Dhillon NK, Ley EJ, Smith J, Burruss S, Dahan A, Johnson A, Ganske W, Biffl WL, Bayat D, Castelo M, Wintz D, Schaffer KB, Zheng DJ, Tillou A, Coimbra R, Tuli R, Santorelli JE, Emigh B, Schellenberg M, Inaba K, Duncan TK, Diaz G, Tay-Lasso E, Zezoff DC, Grigorian A. Clark I, et al. Among authors: schaffer kb. Am Surg. 2024 Oct 11:31348241290612. doi: 10.1177/00031348241290612. Online ahead of print. Am Surg. 2024. PMID: 39392904 Free article.
First Constraints on the Epoch of Reionization Using the Non-Gaussianity of the Kinematic Sunyaev-Zel'dovich Effect from the South Pole Telescope and Herschel-SPIRE Observations.
Raghunathan S, Ade PAR, Anderson AJ, Ansarinejad B, Archipley M, Austermann JE, Balkenhol L, Beall JA, Benabed K, Bender AN, Benson BA, Bianchini F, Bleem LE, Bock J, Bouchet FR, Bryant L, Camphuis E, Carlstrom JE, Cecil TW, Chang CL, Chaubal P, Chiang HC, Chichura PM, Chou TL, Citron R, Coerver A, Crawford TM, Crites AT, Cukierman A, Daley C, Dibert KR, Dobbs MA, Doussot A, Dutcher D, Everett W, Feng C, Ferguson KR, Fichman K, Foster A, Galli S, Gallicchio J, Gambrel AE, Gardner RW, Ge F, George EM, Goeckner-Wald N, Gualtieri R, Guidi F, Guns S, Gupta N, de Haan T, Halverson NW, Hivon E, Holder GP, Holzapfel WL, Hood JC, Hrubes JD, Hryciuk A, Huang N, Hubmayr J, Irwin KD, Kéruzoré F, Khalife AR, Knox L, Korman M, Kornoelje K, Kuo CL, Lee AT, Levy K, Li D, Lowitz AE, Lu C, Maniyar A, Martsen ES, McMahon JJ, Menanteau F, Millea M, Montgomery J, Corbett Moran C, Nakato Y, Natoli T, Nibarger JP, Noble GI, Novosad V, Omori Y, Padin S, Pan Z, Paschos P, Patil S, Phadke KA, Prabhu K, Pryke C, Quan W, Rahimi M, Rahlin A, Reichardt CL, Rouble M, Ruhl JE, Saliwanchik BR, Schaffer KK, Schiappucci E, Sievers C, Smecher G, Sobrin JA, Stark AA, Stephen J, Suzuki A, Tandoi C, Thompson KL… See abstract for full author list ➔ Raghunathan S, et al. Among authors: schaffer kk. Phys Rev Lett. 2024 Sep 20;133(12):121004. doi: 10.1103/PhysRevLett.133.121004. Phys Rev Lett. 2024. PMID: 39373410
Putting the Bright Spots of the COVID-19 Pandemic Response to Use.
Yeager VA, Madsen ER, Hoff C, Schaffer K, Hare Bork R. Yeager VA, et al. Among authors: schaffer k. J Public Health Manag Pract. 2024 Nov-Dec 01;30(6):911-912. doi: 10.1097/PHH.0000000000002057. Epub 2024 Sep 20. J Public Health Manag Pract. 2024. PMID: 39311886 No abstract available.
225 results