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Year Number of Results
1987 1
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1996 1
1998 1
2000 1
2001 2
2002 1
2004 2
2012 5
2013 7
2014 4
2015 3
2017 2
2018 1
2019 2
2020 3
2021 1
2022 2
2023 2
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2025 1
2026 0

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42 results

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Page 1
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project; Bamshad MJ. Tabor HK, et al. Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087612 Free PMC article.
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project; Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S. Do R, et al. Nature. 2015 Feb 5;518(7537):102-6. doi: 10.1038/nature13917. Epub 2014 Dec 10. Nature. 2015. PMID: 25487149 Free PMC article.
Triglyceride Lowering with Pemafibrate to Reduce Cardiovascular Risk.
Das Pradhan A, Glynn RJ, Fruchart JC, MacFadyen JG, Zaharris ES, Everett BM, Campbell SE, Oshima R, Amarenco P, Blom DJ, Brinton EA, Eckel RH, Elam MB, Felicio JS, Ginsberg HN, Goudev A, Ishibashi S, Joseph J, Kodama T, Koenig W, Leiter LA, Lorenzatti AJ, Mankovsky B, Marx N, Nordestgaard BG, Páll D, Ray KK, Santos RD, Soran H, Susekov A, Tendera M, Yokote K, Paynter NP, Buring JE, Libby P, Ridker PM; PROMINENT Investigators. Das Pradhan A, et al. N Engl J Med. 2022 Nov 24;387(21):1923-1934. doi: 10.1056/NEJMoa2210645. Epub 2022 Nov 5. N Engl J Med. 2022. PMID: 36342113 Clinical Trial.
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, Georget M, Schatz U, Fauth C, Louie RJ, Rogers C, Davis JM, Konstantopoulou V, Mayr JA, Bouman A, Wilke M, VanNoy GE, England EM, Park KL, Brown K, Saenz M, Novelli A, Digilio MC, Mastromoro G, Rongioletti MCA, Piacentini G, Kaiyrzhanov R, Guliyeva S, Hasanova L, Shears D, Bhatnagar I, Stals K, Klaas O, Horvath J; University of Washington Center for Mendelian Genomics; Bouvagnet P, Witmer PD, MacCarrick G, Cisarova K, Good JM, Gorokhova S, Boute O, Smol T, Bruel AL, Patat O, Broadbent JR, Tan TY, Tan NB, Lyonnet S, Busa T, Graziano C, Amiel J, Gordon CT. Guillouet C, et al. Am J Hum Genet. 2025 Apr 3;112(4):829-845. doi: 10.1016/j.ajhg.2025.02.016. Epub 2025 Mar 12. Am J Hum Genet. 2025. PMID: 40081376 Free PMC article.
Canadian Surgery Forum.
Fayez R, Roy M, Villeneuve S, AlMuntashery A, Demyttenaere S, Christou N, Court O, AlMuntashery A, Fayez R, Demyttenaere S, Christou N, Court O, Bodie G, Bonrath E, Hagen J, Okrainec A, Sullivan P, Grantcharov T, Almamar A, Sharma A, Karmali S, Birch DW, Gill RS, Majumdar SR, Wang X, Tuepah R, Klarenbach SW, Birch DW, Karmali S, Sharma AM, Padwal RJ, Raîche I, Smith C, Haggar F, Moloo H, Poulin EC, Martel G, Yelle JD, Mamazza J, Mueller CL, Jackson TD, Penner T, Pitzul K, Urbach DR, Okrainec A, AlMuntashery A, Villeneuve S, Roy M, Fayez R, Demyttenaere S, Christou N, Court O, Fayez R, Roy M, Villeneuve S, AlMuntashery A, Demyttenaere S, Christou N, Court O, AlMuntashery A, Fayez R, Demyttenaere S, Court O, Christou N, Moustarah F, Biertho L, Hould FS, Lebel S, Lescelleur O, Marceau S, Marceau P, Biron S, Khokhotva M, Grantcharov T, Anvari M, Sharma A, Yusuf S, Kwong J, Okrainec A, Pitzul KB, Urbach DR, Jackson T, Elkassem S, Lindsay D, Sullivan P, Smith L, Bonrath E, Zevin B, Dedy N, Grantcharov TP, Zevin B, Bonrath EM, Aggarwal R, Grantcharov T, Sockalingam S, Cassin S, Crawford S, Pitzul K, Khan A, Hawa R, Jackson T, Okrainec A, Smith C, Brar B, Mamazza J, Raîche I, Yelle JD, Ha… See abstract for full author list ➔ Fayez R, et al. Can J Surg. 2012 Aug;55(4 Suppl 1):S63-S135. doi: 10.1503/cjs.016712. Can J Surg. 2012. PMID: 35488395 Free PMC article. No abstract available.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
42 results