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Page 1
Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: pankratz n. Birth Defects Res. 2022 Apr;114(7):215-227. doi: 10.1002/bdr2.1987. Epub 2022 Mar 10. Birth Defects Res. 2022. PMID: 35274497 Free PMC article.
Exome sequencing findings in children with annular pancreas.
Pitsava G, Pankratz N, Lane J, Yang W, Rigler S, Shaw GM, Mills JL. Pitsava G, et al. Among authors: pankratz n. Mol Genet Genomic Med. 2023 Oct;11(10):e2233. doi: 10.1002/mgg3.2233. Epub 2023 Aug 28. Mol Genet Genomic Med. 2023. PMID: 37635636 Free PMC article.
Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls.
Abumadini MS, Al Ghamdi KS, Alqahtani AH, Almedallah DK, Callans L, Jarad JA, Cyrus C, Koeleman BPC, Keating BJ, Pankratz N, Al-Ali AK. Abumadini MS, et al. Among authors: pankratz n. Front Mol Neurosci. 2023 Feb 10;16:1069375. doi: 10.3389/fnmol.2023.1069375. eCollection 2023. Front Mol Neurosci. 2023. PMID: 36846569 Free PMC article.
Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions.
Kanwal A, Sheikh SA, Aslam F, Yaseen S, Beetham Z, Pankratz N, Clabots CR, Naz S, Pardo JV. Kanwal A, et al. Among authors: pankratz n. Genes (Basel). 2023 Oct 9;14(10):1921. doi: 10.3390/genes14101921. Genes (Basel). 2023. PMID: 37895270 Free PMC article.
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.
Keener R, Chhetri SB, Connelly CJ, Taub MA, Conomos MP, Weinstock J, Ni B, Strober B, Aslibekyan S, Auer PL, Barwick L, Becker LC, Blangero J, Bleecker ER, Brody JA, Cade BE, Celedon JC, Chang YC, Cupples LA, Custer B, Freedman BI, Gladwin MT, Heckbert SR, Hou L, Irvin MR, Isasi CR, Johnsen JM, Kenny EE, Kooperberg C, Minster RL, Naseri T, Viali S, Nekhai S, Pankratz N, Peyser PA, Taylor KD, Telen MJ, Wu B, Yanek LR, Yang IV, Albert C, Arnett DK, Ashley-Koch AE, Barnes KC, Bis JC, Blackwell TW, Boerwinkle E, Burchard EG, Carson AP, Chen Z, Chen YI, Darbar D, de Andrade M, Ellinor PT, Fornage M, Gelb BD, Gilliland FD, He J, Islam T, Kaab S, Kardia SLR, Kelly S, Konkle BA, Kumar R, Loos RJF, Martinez FD, McGarvey ST, Meyers DA, Mitchell BD, Montgomery CG, North KE, Palmer ND, Peralta JM, Raby BA, Redline S, Rich SS, Roden D, Rotter JI, Ruczinski I, Schwartz D, Sciurba F, Shoemaker MB, Silverman EK, Sinner MF, Smith NL, Smith AV, Tiwari HK, Vasan RS, Weiss ST, Williams LK, Zhang Y, Ziv E, Raffield LM, Reiner AP; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology and Hemostasis Working Group; TOPMed Structural Variation Working Group; Arvanitis M, G… See abstract for full author list ➔ Keener R, et al. Among authors: pankratz n. Nat Commun. 2024 May 24;15(1):4417. doi: 10.1038/s41467-024-48394-y. Nat Commun. 2024. PMID: 38789417 Free PMC article.
Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.
Jiang MZ, Gaynor SM, Li X, Van Buren E, Stilp A, Buth E, Wang FF, Manansala R, Gogarten SM, Li Z, Polfus LM, Salimi S, Bis JC, Pankratz N, Yanek LR, Durda P, Tracy RP, Rich SS, Rotter JI, Mitchell BD, Lewis JP, Psaty BM, Pratte KA, Silverman EK, Kaplan RC, Avery C, North KE, Mathias RA, Faraday N, Lin H, Wang B, Carson AP, Norwood AF, Gibbs RA, Kooperberg C, Lundin J, Peters U, Dupuis J, Hou L, Fornage M, Benjamin EJ, Reiner AP, Bowler RP, Lin X, Auer PL, Raffield LM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Inflammation Working Group. Jiang MZ, et al. Among authors: pankratz n. Hum Mol Genet. 2024 May 15:ddae050. doi: 10.1093/hmg/ddae050. Online ahead of print. Hum Mol Genet. 2024. PMID: 38747556
Determinants of mosaic chromosomal alteration fitness.
Pershad Y, Mack T, Poisner H, Jakubek YA, Stilp AM, Mitchell BD, Lewis JP, Boerwinkle E, Loos RJF, Chami N, Wang Z, Barnes K, Pankratz N, Fornage M, Redline S, Psaty BM, Bis JC, Shojaie A, Silverman EK, Cho MH, Yun JH, DeMeo D, Levy D, Johnson AD, Mathias RA, Taub MA, Arnett D, North KE, Raffield LM, Carson AP, Doyle MF, Rich SS, Rotter JI, Guo X, Cox NJ, Roden DM, Franceschini N, Desai P, Reiner AP, Auer PL, Scheet PA, Jaiswal S, Weinstock JS, Bick AG. Pershad Y, et al. Among authors: pankratz n. Nat Commun. 2024 May 7;15(1):3800. doi: 10.1038/s41467-024-48190-8. Nat Commun. 2024. PMID: 38714703 Free PMC article.
210 results