Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
2002 3
2003 2
2005 4
2006 5
2007 2
2008 4
2009 5
2010 2
2011 6
2012 4
2013 5
2014 6
2015 4
2016 5
2017 13
2018 4
2019 2
2020 5
Text availability
Article attribute
Article type
Publication date

Search Results

71 results
Results by year
Filters applied: . Clear all
Page 1
Fluorescence In Situ Hybridization Probe Validation for Clinical Use.
Gu J, Smith JL, Dowling PK. Gu J, et al. Among authors: smith jl. Methods Mol Biol. 2017;1541:101-118. doi: 10.1007/978-1-4939-6703-2_10. Methods Mol Biol. 2017. PMID: 27910018 Review.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Yuan B, et al. Among authors: smith jl. Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30. Genet Med. 2019. PMID: 30158690 Free PMC article.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Gambin T, et al. Among authors: smith jl. Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7. Genome Med. 2017. PMID: 28934986 Free PMC article.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL; Deciphering Developmental Disorders Study, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y. Stankiewicz P, et al. Among authors: smith jl. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942966 Free PMC article.
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
Petersen AK, Cheung SW, Smith JL, Bi W, Ward PA, Peacock S, Braxton A, Van Den Veyver IB, Breman AM. Petersen AK, et al. Among authors: smith jl. Am J Obstet Gynecol. 2017 Dec;217(6):691.e1-691.e6. doi: 10.1016/j.ajog.2017.10.005. Epub 2017 Oct 13. Am J Obstet Gynecol. 2017. PMID: 29032050 Free article.
A community-based lifestyle and weight loss intervention promoting a Mediterranean-style diet pattern evaluated in the stroke belt of North Carolina: the Heart Healthy Lenoir Project.
Keyserling TC, Samuel-Hodge CD, Pitts SJ, Garcia BA, Johnston LF, Gizlice Z, Miller CL, Braxton DF, Evenson KR, Smith JC, Davis GB, Quenum EL, Elliott NT, Gross MD, Donahue KE, Halladay JR, Ammerman AS. Keyserling TC, et al. Among authors: smith jc. BMC Public Health. 2016 Aug 5;16:732. doi: 10.1186/s12889-016-3370-9. BMC Public Health. 2016. PMID: 27495295 Free PMC article. Clinical Trial.
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Burnside RD, et al. Among authors: smith jl. Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27. Hum Genet. 2011. PMID: 21359847 Free PMC article.
Mechanisms for Complex Chromosomal Insertions.
Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR. Gu S, et al. Among authors: smith jl. PLoS Genet. 2016 Nov 23;12(11):e1006446. doi: 10.1371/journal.pgen.1006446. eCollection 2016 Nov. PLoS Genet. 2016. PMID: 27880765 Free PMC article.
Genetic diagnosis of Down syndrome in an underserved community.
Sobering AK, Stevens JB, Smith JL, Nelson B, Donald T, Elsea SH. Sobering AK, et al. Among authors: smith jl. Am J Med Genet A. 2018 Feb;176(2):483-486. doi: 10.1002/ajmg.a.38573. Epub 2017 Dec 26. Am J Med Genet A. 2018. PMID: 29278455
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Liu P, Yuan B, Carvalho CMB, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. Liu P, et al. Among authors: smith j. Cell. 2017 Feb 23;168(5):830-842.e7. doi: 10.1016/j.cell.2017.01.037. Cell. 2017. PMID: 28235197 Free PMC article.
71 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page
Feedback