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Page 1
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program; Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. Kane MS, et al. Among authors: adams dr, adams c. Am J Hum Genet. 2016 Feb 4;98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805780 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.
Abnormal glycosylation in Joubert syndrome type 10.
Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O'Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, Malicdan MCV, Gahl WA, Boerkoel CF. Kane MS, et al. Among authors: adams cj. Cilia. 2017 Mar 23;6:2. doi: 10.1186/s13630-017-0048-6. eCollection 2017. Cilia. 2017. PMID: 28344780 Free PMC article.
Explorations to improve the completeness of exome sequencing.
Du C, Pusey BN, Adams CJ, Lau CC, Bone WP, Gahl WA, Markello TC, Adams DR. Du C, et al. Among authors: adams dr, adams cj. BMC Med Genomics. 2016 Aug 27;9(1):56. doi: 10.1186/s12920-016-0216-3. BMC Med Genomics. 2016. PMID: 27568008 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: adams dr, adams c. 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.
NTCP deficiency and persistently raised bile salts: an adult case.
Van Herpe F, Waterham HR, Adams CJ, Mannens M, Bikker H, Vaz FM, Cassiman D. Van Herpe F, et al. J Inherit Metab Dis. 2017 May;40(3):313-315. doi: 10.1007/s10545-017-0031-9. Epub 2017 Mar 10. J Inherit Metab Dis. 2017. PMID: 28283843 No abstract available.
Demonstration of event position reconstruction based on diffusion in the NEXT-white detector.
Haefner J, Navarro KE, Guenette R, Jones BJP, Tripathi A, Adams C, Almazán H, Álvarez V, Aparicio B, Aranburu AI, Arazi L, Arnquist IJ, Auria-Luna F, Ayet S, Azevedo CDR, Bailey K, Ballester F, Barrio-Torregrosa MD, Bayo A, Benlloch-Rodríguez JM, Borges FIGM, Brodolin A, Byrnes N, Cárcel S, Carrión JV, Cebrián S, Church E, Cid L, Conde CAN, Contreras T, Cossío FP, Dey E, Díaz G, Dickel T, Elorza M, Escada J, Esteve R, Felkai R, Fernandes LMP, Ferrario P, Ferreira AL, Foss FW, Freitas EDC, Freixa Z, Generowicz J, Goldschmidt A, Gómez-Cadenas JJ, González R, Grocott J, Hafidi K, Hauptman J, Henriques CAO, Morata JAH, Herrero-Gómez P, Herrero V, Hervés Carrete C, Ifergan Y, Labarga L, Larizgoitia L, Larumbe A, Lebrun P, Lopez F, López-March N, Madigan R, Mano RDP, Marques AP, Martín-Albo J, Martínez-Lema G, Martínez-Vara M, Meziani ZE, Miller RL, Mistry K, Molina-Canteras J, Monrabal F, Monteiro CMB, Mora FJ, Muñoz Vidal J, Novella P, Nuñez A, Nygren DR, Oblak E, Palacio J, Palmeiro B, Para A, Parmaksiz I, Pelegrin J, Pérez Maneiro M, Querol M, Redwine AB, Renner J, Rivilla I, Rodríguez J, Rogero C, Rogers L, Romeo B, Romo-Luque C, Santos FP, Dos Santos JMF, Shomroni I, Simón … See abstract for full author list ➔ Haefner J, et al. Among authors: adams c. Eur Phys J C Part Fields. 2024;84(5):518. doi: 10.1140/epjc/s10052-024-12865-9. Epub 2024 May 21. Eur Phys J C Part Fields. 2024. PMID: 38784120 Free PMC article.
Unification of Efforts to Improve Global Access to Cancer Therapeutics: Report From the 2022/2023 Access to Essential Cancer Medicines Stakeholder Summit.
Briercheck E, Pyle D, Adams C, Atun R, Booth C, Dent J, Garcia-Gonzalez P, Ilbawi A, Jazieh AR, Kerr D, Knaul F, Kobayashi E, Lim C, Maza M, Milner D, Navarro MF, O'Brien M, Rodriguez-Galindo C, Sullivan R, Torode J, Vokes E, Gralow J. Briercheck E, et al. Among authors: adams c. JCO Glob Oncol. 2024 May;10:e2300256. doi: 10.1200/GO.23.00256. JCO Glob Oncol. 2024. PMID: 38781548
Preventing postnatal depression in new mothers using telephone peer support: protocol for the DAISY (Depression and AnxIety peer Support studY) multi-centre randomised controlled trial.
Shafiei T, McLachlan HL, Dennis CL, Nicholson JM, Nguyen T, Shiell A, Nguyen CD, Grimes H, Bee J, Adams C, Callander E, Forster DA. Shafiei T, et al. Among authors: adams c. BMJ Open. 2024 May 15;14(5):e087477. doi: 10.1136/bmjopen-2024-087477. BMJ Open. 2024. PMID: 38749691 Free PMC article. Clinical Trial.
3,314 results