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Results by year

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 3
2023 2
2024 0

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Publication date

Search Results

190 results

Results by year

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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.
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.
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.
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.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Magyar CL, et al. Among authors: gibson jb. Am J Med Genet A. 2022 Jun;188(6):1868-1874. doi: 10.1002/ajmg.a.62704. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35194938 Review.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, Hahn SH, Hillman R, Kronn D, Leslie ND, Peña LDM, Sparks SE, Stockton DW, Tanpaiboon P, Day JW; Pompe ADVANCE Study Consortium. Duong T, et al. Among authors: gibson jb. J Neuromuscul Dis. 2022;9(6):713-730. doi: 10.3233/JND-210784. J Neuromuscul Dis. 2022. PMID: 36214004 Free PMC article.
190 results