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Page 1
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM; National Birth Defects Prevention Study; University of Washington Center for Mendelian Genomics; Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ. Blue EE, et al. Among authors: pangilinan f. HGG Adv. 2023 Aug 12;4(4):100232. doi: 10.1016/j.xhgg.2023.100232. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37663545 Free PMC article.
Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.
Stevelink R, Pangilinan F, Jansen FE, Braun KPJ; International League Against Epilepsy Consortium on Complex Epilepsies; Molloy AM, Brody LC, Koeleman BPC. Stevelink R, et al. Among authors: pangilinan f. Mol Genet Metab Rep. 2019 Oct 11;21:100518. doi: 10.1016/j.ymgmr.2019.100518. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31641590 Free PMC article.
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Blue EE, Moore KJ, North KE, Desrosiers TA, Carmichael SL, White JJ, Chong JX, Bamshad MJ, Jenkins MM, Almli LM, Brody LC, Freedman SF, Reefhuis J, Romitti PA, Shaw GM, Werler M, Kay DM, Browne ML, Feldkamp ML, Finnell RH, Nembhard WN, Pangilinan F, Olshan AF; National Institutes of Health Intramural Sequencing Center; University of Washington Center for Mendelian Genomics; National Birth Defects Prevention Study. Blue EE, et al. Among authors: pangilinan f. Birth Defects Res. 2024 Jul;116(7):e2384. doi: 10.1002/bdr2.2384. Birth Defects Res. 2024. PMID: 38990107
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Sok P, Sabo A, Almli LM, Jenkins MM, Nembhard WN, Agopian AJ, Bamshad MJ, Blue EE, Brody LC, Brown AL, Browne ML, Canfield MA, Carmichael SL, Chong JX, Dugan-Perez S, Feldkamp ML, Finnell RH, Gibbs RA, Kay DM, Lei Y, Meng Q, Moore CA, Mullikin JC, Muzny D, Olshan AF, Pangilinan F, Reefhuis J, Romitti PA, Schraw JM, Shaw GM, Werler MM, Harpavat S, Lupo PJ; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study. Sok P, et al. Among authors: pangilinan f. Am J Med Genet A. 2023 Jun;191(6):1546-1556. doi: 10.1002/ajmg.a.63185. Epub 2023 Mar 21. Am J Med Genet A. 2023. PMID: 36942736 Free PMC article.
Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans.
Weston E, Pangilinan F, Eaton S, Orford M, Leung KY, Copp AJ, Mills JL, Molloy AM, Brody LC, Greene N. Weston E, et al. Among authors: pangilinan f. J Nutr. 2022 Nov;152(11):2333-2342. doi: 10.1093/jn/nxac204. Epub 2022 Sep 2. J Nutr. 2022. PMID: 36774100 Free PMC article.
Age, Sex and Previous Comorbidities as Risk Factors Not Associated with SARS-CoV-2 Infection for Long COVID-19: A Systematic Review and Meta-Analysis.
Notarte KI, de Oliveira MHS, Peligro PJ, Velasco JV, Macaranas I, Ver AT, Pangilinan FC, Pastrana A, Goldrich N, Kavteladze D, Gellaco MML, Liu J, Lippi G, Henry BM, Fernández-de-Las-Peñas C. Notarte KI, et al. Among authors: pangilinan fc. J Clin Med. 2022 Dec 9;11(24):7314. doi: 10.3390/jcm11247314. J Clin Med. 2022. PMID: 36555931 Free PMC article. Review.
63 results