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Page 1
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: loucks h. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: loucks h. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT. Penon-Portmann M, et al. Among authors: loucks h. Am J Med Genet A. 2022 Aug;188(8):2360-2366. doi: 10.1002/ajmg.a.62872. Epub 2022 Jun 25. Am J Med Genet A. 2022. PMID: 35751429 Free PMC article.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: loucks h. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Inflammatory biomarkers and risk of breast cancer among young women in Latin America: a case-control study.
Fontvieille E, His M, Biessy C, Navionis AS, Torres-Mejía G, Ángeles-Llerenas A, Alvarado-Cabrero I, Sánchez GI, Navarro E, Cortes YR, Porras C, Rodriguez AC, Garmendia ML, Soto JL, Moyano L, Porter PL, Lin MG, Guenthoer J, Romieu I, Rinaldi S; PRECAMA team. Fontvieille E, et al. BMC Cancer. 2022 Aug 11;22(1):877. doi: 10.1186/s12885-022-09975-6. BMC Cancer. 2022. PMID: 35948877 Free PMC article.
Consumption of industrial processed foods and risk of premenopausal breast cancer among Latin American women: the PRECAMA study.
Romieu I, Khandpur N, Katsikari A, Biessy C, Torres-Mejía G, Ángeles-Llerenas A, Alvarado-Cabrero I, Sánchez GI, Maldonado ME, Porras C, Rodriguez AC, Garmendia ML, Chajés V, Aglago EK, Porter PL, Lin M, His M, Gunter MJ, Huybrechts I, Rinaldi S; PRECAMA team. Romieu I, et al. BMJ Nutr Prev Health. 2022 Jan 4;5(1):1-9. doi: 10.1136/bmjnph-2021-000335. eCollection 2022. BMJ Nutr Prev Health. 2022. PMID: 35814719 Free PMC article.
Anthropometry, body shape in early-life and risk of premenopausal breast cancer among Latin American women: results from the PRECAMA study.
His M, Biessy C, Torres-Mejía G, Ángeles-Llerenas A, Alvarado-Cabrero I, Sánchez GI, Borrero M, Porras C, Rodriguez AC, Garmendia ML, Olivier M, Porter PL, Lin M, Gunter MJ, Romieu I, Rinaldi S; PRECAMA team. His M, et al. Sci Rep. 2020 Feb 10;10(1):2294. doi: 10.1038/s41598-020-59056-6. Sci Rep. 2020. PMID: 32042008 Free PMC article.