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Items: 1 to 20 of 94

1.

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.

Callaway DA, Campbell IM, Stover SR, Hernandez-Garcia A, Jhangiani SN, Punetha J, Paine IS, Posey JE, Muzny D, Lally KP, Lupski JR, Shaw CA, Fernandes CJ, Scott DA.

J Pediatr Genet. 2018 Dec;7(4):164-173. doi: 10.1055/s-0038-1655755. Epub 2018 May 30.

PMID:
30430034
2.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.

3.

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.

Song X, Beck CR, Du R, Campbell IM, Coban-Akdemir Z, Gu S, Breman AM, Stankiewicz P, Ira G, Shaw CA, Lupski JR.

Genome Res. 2018 Aug;28(8):1228-1242. doi: 10.1101/gr.229401.117. Epub 2018 Jun 15.

4.

Isolation of Aggressive Behavior Mutants in Drosophila Using a Screen for Wing Damage.

Davis SM, Thomas AL, Liu L, Campbell IM, Dierick HA.

Genetics. 2018 Jan;208(1):273-282. doi: 10.1534/genetics.117.300292. Epub 2017 Nov 6.

5.

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.

Cell. 2017 Feb 23;168(5):830-842.e7. doi: 10.1016/j.cell.2017.01.037.

6.

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA.

Genome Med. 2016 Feb 2;8(1):13. doi: 10.1186/s13073-016-0261-8.

7.

Erratum to: Somatic Mosaicism: Implications for Disease and Transmission Genetics.

Campbell IM, Shaw CA, Stankiewicz P, Lupski JR.

Trends Genet. 2016 Feb;32(2):138. doi: 10.1016/j.tig.2015.07.004. Epub 2015 Dec 22. No abstract available.

PMID:
29482722
8.

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.

Campbell IM, Gambin T, Jhangiani S, Grove ML, Veeraraghavan N, Muzny DM, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR.

Hum Mutat. 2016 Mar;37(3):231-234. doi: 10.1002/humu.22944. Epub 2015 Dec 31.

9.

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR.

PLoS Genet. 2015 Dec 7;11(12):e1005686. doi: 10.1371/journal.pgen.1005686. eCollection 2015 Dec.

10.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

11.

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.

Mayle R, Campbell IM, Beck CR, Yu Y, Wilson M, Shaw CA, Bjergbaek L, Lupski JR, Ira G.

Science. 2015 Aug 14;349(6249):742-7. doi: 10.1126/science.aaa8391.

12.

Secondary findings and carrier test frequencies in a large multiethnic sample.

Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E.

Genome Med. 2015 Jun 13;7(1):54. doi: 10.1186/s13073-015-0171-1. eCollection 2015.

13.

Somatic mosaicism: implications for disease and transmission genetics.

Campbell IM, Shaw CA, Stankiewicz P, Lupski JR.

Trends Genet. 2015 Jul;31(7):382-92. doi: 10.1016/j.tig.2015.03.013. Epub 2015 Apr 21. Review. Erratum in: Trends Genet. 2016 Feb;32(2):138. Trends Genet. 2016 Feb;32(2):138.

14.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR.

Hum Mol Genet. 2015 Jul 15;24(14):4061-77. doi: 10.1093/hmg/ddv146. Epub 2015 Apr 23.

15.

Variant interpretation through Bayesian fusion of frequency and genomic knowledge.

Shaw CA, Campbell IM.

Genome Med. 2015 Jan 28;7(1):4. doi: 10.1186/s13073-015-0129-3. eCollection 2015.

16.

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.

Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, Stankiewicz P, Gambin A.

Nucleic Acids Res. 2015 Feb 27;43(4):2188-98. doi: 10.1093/nar/gku1394. Epub 2015 Jan 22.

17.

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.

Campbell IM, Gambin T, Dittwald P, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P.

BMC Biol. 2014 Sep 23;12:74. doi: 10.1186/s12915-014-0074-4.

18.

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

Campbell IM, Stewart JR, James RA, Lupski JR, Stankiewicz P, Olofsson P, Shaw CA.

Am J Hum Genet. 2014 Oct 2;95(4):345-59. doi: 10.1016/j.ajhg.2014.08.010. Epub 2014 Sep 18.

19.

NetComm: a network analysis tool based on communicability.

Campbell IM, James RA, Chen ES, Shaw CA.

Bioinformatics. 2014 Dec 1;30(23):3387-9. doi: 10.1093/bioinformatics/btu536. Epub 2014 Aug 13.

20.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P.

Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31.

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