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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1948 1
1950 1
1951 3
1953 3
1955 2
1956 2
1957 3
1959 4
1960 3
1961 2
1962 5
1963 2
1964 4
1965 2
1968 3
1969 5
1970 3
1971 2
1972 6
1973 5
1974 3
1975 1
1976 2
1977 1
1978 2
1979 3
1980 3
1981 14
1982 6
1983 5
1984 5
1985 5
1986 1
1987 3
1988 6
1989 2
1990 2
1991 1
1992 4
1993 3
1994 2
1995 7
1996 4
1997 2
1998 6
1999 2
2000 5
2001 1
2002 2
2003 1
2004 1
2006 2
2010 1
2011 1
2012 1
2015 2
2016 1
2017 4
2018 3
2019 6
2020 1
2021 1
2022 4
2023 2
2024 1
2025 3

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Search Results

195 results

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Page 1
Reanalysis of Clinical Exome Sequencing Data.
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Liu P, et al. Among authors: gibson jb. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. N Engl J Med. 2019. PMID: 31216405 Free PMC article. No abstract available.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: gibson jb. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Miller MJ, et al. Among authors: gibson jb. Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2. Mol Genet Metab. 2015. PMID: 26385305 Free PMC article.
Tissue-specific inducible IL-33 expression elicits features of eosinophilic esophagitis.
Pyon GC, Masuda MY, Putikova A, Luo H, Gibson JB, Dao AD, Ortiz DR, Heiligenstein PL, Bonellos JJ, LeSuer WE, Pai RK, Garg S, Rank MA, Nakagawa H, Kita H, Wright BL, Doyle AD. Pyon GC, et al. Among authors: gibson jb. J Allergy Clin Immunol. 2024 Dec;154(6):1545-1553.e2. doi: 10.1016/j.jaci.2024.08.026. Epub 2024 Sep 10. J Allergy Clin Immunol. 2024. PMID: 39265877
Vitamin-Dependent Genetic Disorders of Childhood.
Ramirez EL, Gibson JB, Jülich K. Ramirez EL, et al. Among authors: gibson jb. Pediatr Rev. 2023 Nov 1;44(11):618-631. doi: 10.1542/pir.2022-005637. Pediatr Rev. 2023. PMID: 37907415 No abstract available.
Nonleaking cystoid macular edema in Cohen syndrome.
Beck KD, Wong RW, Gibson JB, Harper CA 3rd. Beck KD, et al. Among authors: gibson jb. J AAPOS. 2019 Feb;23(1):38-39.e1. doi: 10.1016/j.jaapos.2018.05.010. Epub 2018 Aug 23. J AAPOS. 2019. PMID: 30144585 Review.
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 study.
Kisanuki YY, Nobrega PR, Himes R, Jayadev S, Bernat JA, Prakash V, Gibson JB, Larson A, Sgobbi P, DeBarber AE, Murphy E, Fedor B, Wong Po Foo C, Dutta R, Imperiale M, Garner W, Quan J, Vig P, Duell PB, Perez S, Ramdhani RA, Saute JA; RESTORE Study Group Collaborators. Kisanuki YY, et al. Among authors: gibson jb. Genet Med. 2025 Jul;27(7):101449. doi: 10.1016/j.gim.2025.101449. Epub 2025 Apr 25. Genet Med. 2025. PMID: 40297984 Free article. Clinical Trial.
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.
Antonicka H, Weraarpachai W, Szigety KM, Kopajtich R, Gibson JB, Van Hove JLK, Friederich MW, Lopriore P, Neuhofer C, Van Hove RA, Cole MA, Reisdorph R, Peterson JT, Dempsey KJ, Ganetzky RD, Mancuso M, Prokisch H, Shoubridge EA. Antonicka H, et al. Among authors: gibson jb. Am J Hum Genet. 2025 Jul 3;112(7):1699-1710. doi: 10.1016/j.ajhg.2025.05.007. Epub 2025 Jun 10. Am J Hum Genet. 2025. PMID: 40499538
Global impact of COVID-19 on newborn screening programmes.
Koracin V, Loeber JG, Mlinaric M, Battelino T, Bonham JR, Groselj U; COVID-NBS ISNS global network. Koracin V, et al. BMJ Glob Health. 2022 Mar;7(3):e007780. doi: 10.1136/bmjgh-2021-007780. BMJ Glob Health. 2022. PMID: 35236661 Free PMC article.
EXTRAHEPATIC PORTAL-VENOUS OBSTRUCTION.
GIBSON JB, JOHNSTON GW, FULTON TT, RODGERS HW. GIBSON JB, et al. Br J Surg. 1965 Feb;52:129-39. doi: 10.1002/bjs.1800520211. Br J Surg. 1965. PMID: 14255983 No abstract available.
195 results