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Page 1
Germline mutations in MAP3K6 are associated with familial gastric cancer.
Gaston D, Hansford S, Oliveira C, Nightingale M, Pinheiro H, Macgillivray C, Kaurah P, Rideout AL, Steele P, Soares G, Huang WY, Whitehouse S, Blowers S, LeBlanc MA, Jiang H, Greer W, Samuels ME, Orr A, Fernandez CV, Majewski J, Ludman M, Dyack S, Penney LS, McMaster CR, Huntsman D, Bedard K. Gaston D, et al. Among authors: penney ls. PLoS Genet. 2014 Oct 23;10(10):e1004669. doi: 10.1371/journal.pgen.1004669. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25340522 Free PMC article.
A novel rearrangement of occludin causes brain calcification and renal dysfunction.
LeBlanc MA, Penney LS, Gaston D, Shi Y, Aberg E, Nightingale M, Jiang H, Gillett RM, Fahiminiya S, Macgillivray C, Wood EP, Acott PD, Khan MN, Samuels ME, Majewski J, Orr A, McMaster CR, Bedard K. LeBlanc MA, et al. Among authors: penney ls. Hum Genet. 2013 Nov;132(11):1223-34. doi: 10.1007/s00439-013-1327-y. Epub 2013 Jun 21. Hum Genet. 2013. PMID: 23793442
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: penney ls. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
Aronson M, Gallinger S, Cohen Z, Cohen S, Dvir R, Elhasid R, Baris HN, Kariv R, Druker H, Chan H, Ling SC, Kortan P, Holter S, Semotiuk K, Malkin D, Farah R, Sayad A, Heald B, Kalady MF, Penney LS, Rideout AL, Rashid M, Hasadsri L, Pichurin P, Riegert-Johnson D, Campbell B, Bakry D, Al-Rimawi H, Alharbi QK, Alharbi M, Shamvil A, Tabori U, Durno C. Aronson M, et al. Among authors: penney ls. Am J Gastroenterol. 2016 Feb;111(2):275-84. doi: 10.1038/ajg.2015.392. Epub 2016 Jan 5. Am J Gastroenterol. 2016. PMID: 26729549
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV; Care4Rare Canada Consortium; Rodenburg RJ, Boycott KM, Penney LS. Smith AC, et al. Among authors: penney ls. J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20. J Inherit Metab Dis. 2018. PMID: 29560582
Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.
Farncombe KM, Wong D, Norman ML, Oldfield LE, Sobotka JA, Basik M, Bombard Y, Carile V, Dawson L, Foulkes WD, Malkin D, Karsan A, Parkin P, Penney LS, Pollett A, Schrader KA, Pugh TJ, Kim RH; CHARM consortium. Farncombe KM, et al. Among authors: penney ls. Am J Hum Genet. 2023 Oct 5;110(10):1616-1627. doi: 10.1016/j.ajhg.2023.08.014. Am J Hum Genet. 2023. PMID: 37802042 Free PMC article. Review.
"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screening.
Adi-Wauran E, Clausen M, Shickh S, Gagliardi AR, Denburg A, Oldfield LE, Sam J, Reble E, Krishnapillai S, Regier DA, Baxter NN, Dawson L, Penney LS, Foulkes W, Basik M, Sun S, Schrader KA, Karsan A, Pollett A, Pugh TJ; CHARM consortium; Kim RH, Bombard Y. Adi-Wauran E, et al. Among authors: penney ls. Eur J Hum Genet. 2024 Feb;32(2):176-181. doi: 10.1038/s41431-023-01473-y. Epub 2023 Oct 11. Eur J Hum Genet. 2024. PMID: 37821757
"Game Changer": Health Professionals' Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management.
Shickh S, Oldfield LE, Clausen M, Mighton C, Sebastian A, Calvo A, Baxter NN, Dawson L, Penney LS, Foulkes W, Basik M, Sun S, Schrader KA, Regier DA, Karsan A, Pollett A, Pugh TJ, Kim RH, Bombard Y; CHARM Consortium. Shickh S, et al. Among authors: penney ls. Oncologist. 2022 May 6;27(5):e393-e401. doi: 10.1093/oncolo/oyac039. Oncologist. 2022. PMID: 35385106 Free PMC article.
61 results