These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Formal genetics in humans: mendelian and nonmendelian inheritance. Pyeritz RE Res Publ Assoc Res Nerv Ment Dis; 1991; 69():47-73. PubMed ID: 2003164 [No Abstract] [Full Text] [Related]
8. Robustness of inference on measured covariates to misspecification of genetic random effects in family studies. Pfeiffer RM; Hildesheim A; Gail MH; Pee D; Chen CJ; Goldstein AM; Diehl SR Genet Epidemiol; 2003 Jan; 24(1):14-23. PubMed ID: 12508252 [TBL] [Abstract][Full Text] [Related]
9. Association mapping of complex diseases in linked regions: estimation of genetic effects and feasibility of testing rare variants. Wang WY; Cordell HJ; Todd JA Genet Epidemiol; 2003 Jan; 24(1):36-43. PubMed ID: 12508254 [TBL] [Abstract][Full Text] [Related]
10. An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data. Song D; Li N; Liao L Biomed Mater Eng; 2015; 26 Suppl 1():S1797-803. PubMed ID: 26405949 [TBL] [Abstract][Full Text] [Related]
11. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. Smedley D; Schubach M; Jacobsen JOB; Köhler S; Zemojtel T; Spielmann M; Jäger M; Hochheiser H; Washington NL; McMurry JA; Haendel MA; Mungall CJ; Lewis SE; Groza T; Valentini G; Robinson PN Am J Hum Genet; 2016 Sep; 99(3):595-606. PubMed ID: 27569544 [TBL] [Abstract][Full Text] [Related]
12. Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes. Hsu JS; Kwan JS; Pan Z; Garcia-Barcelo MM; Sham PC; Li M Bioinformatics; 2016 Oct; 32(20):3065-3071. PubMed ID: 27354691 [TBL] [Abstract][Full Text] [Related]
13. MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. Gosalia N; Economides AN; Dewey FE; Balasubramanian S Nucleic Acids Res; 2017 Oct; 45(18):10393-10402. PubMed ID: 28977528 [TBL] [Abstract][Full Text] [Related]
14. The role of genes in disease: beware of simplistic interpretations! Prescrire Int; 2009 Dec; 18(104):279-82. PubMed ID: 20027720 [TBL] [Abstract][Full Text] [Related]
15. NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans. Caron B; Luo Y; Rausell A Genome Biol; 2019 Feb; 20(1):32. PubMed ID: 30744685 [TBL] [Abstract][Full Text] [Related]
16. Genes and non-mendelian diseases: dealing with complexity. Jordan B Perspect Biol Med; 2014; 57(1):118-31. PubMed ID: 25345706 [TBL] [Abstract][Full Text] [Related]
17. Genetic aspects of diseases: categories of genetic disorders. Ponz de Leon M Recent Results Cancer Res; 1994; 136():9-23. PubMed ID: 7863110 [No Abstract] [Full Text] [Related]
18. Clinical genetics and the Hutterite population: a review of Mendelian disorders. Boycott KM; Parboosingh JS; Chodirker BN; Lowry RB; McLeod DR; Morris J; Greenberg CR; Chudley AE; Bernier FP; Midgley J; Møller LB; Innes AM Am J Med Genet A; 2008 Apr; 146A(8):1088-98. PubMed ID: 18348266 [TBL] [Abstract][Full Text] [Related]
19. Approaches to identify genes for complex human diseases: lessons from Mendelian disorders. Dean M Hum Mutat; 2003 Oct; 22(4):261-74. PubMed ID: 12955713 [TBL] [Abstract][Full Text] [Related]