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.
22. Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population. Park KS Children (Basel); 2021 Jul; 8(7):. PubMed ID: 34356580 [TBL] [Abstract][Full Text] [Related]
23. Estimation of hereditary fructose intolerance prevalence in the Chinese population. Tang M; Chen X; Ni Q; Lu Y; Wu B; Wang H; Yin Z; Zhou W; Dong X Orphanet J Rare Dis; 2022 Aug; 17(1):326. PubMed ID: 36028839 [TBL] [Abstract][Full Text] [Related]
24. Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. Tan J; Wagner M; Stenton SL; Strom TM; Wortmann SB; Prokisch H; Meitinger T; Oexle K; Klopstock T EBioMedicine; 2020 Apr; 54():102730. PubMed ID: 32305867 [TBL] [Abstract][Full Text] [Related]
25. Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants. Hanany M; Sharon D J Med Genet; 2019 Aug; 56(8):536-542. PubMed ID: 30910914 [TBL] [Abstract][Full Text] [Related]
26. Neuromuscular disorders: finding the missing genetic diagnoses. Koczwara KE; Lake NJ; DeSimone AM; Lek M Trends Genet; 2022 Sep; 38(9):956-971. PubMed ID: 35908999 [TBL] [Abstract][Full Text] [Related]
27. Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. Kraemer D; Azzarello-Burri S; Steindl K; Boonsawat P; Zweier M; Dedes KJ; Joset P; Fink D; Rauch A Swiss Med Wkly; 2019 Aug; 149():w20092. PubMed ID: 31422574 [TBL] [Abstract][Full Text] [Related]
28. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD. Carter A; Brackley SM; Gao J; Mann JP J Hepatol; 2019 Jan; 70(1):142-150. PubMed ID: 30315827 [TBL] [Abstract][Full Text] [Related]
29. Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology. Chen SC; Zhou XY; Li SY; Zhao MM; Huang HF; Jia J; Xu CM J Assist Reprod Genet; 2023 Sep; 40(9):2157-2173. PubMed ID: 37450097 [TBL] [Abstract][Full Text] [Related]
30. Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel. Morgenstern-Kaplan D; Raijman-Policar J; Majzner-Aronovich S; Aradhya S; Pineda-Alvarez DE; Aguinaga M; García-Vences EE Genet Med; 2022 Apr; 24(4):821-830. PubMed ID: 34961661 [TBL] [Abstract][Full Text] [Related]
31. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ankala A; da Silva C; Gualandi F; Ferlini A; Bean LJ; Collins C; Tanner AK; Hegde MR Ann Neurol; 2015 Feb; 77(2):206-14. PubMed ID: 25380242 [TBL] [Abstract][Full Text] [Related]
32. Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders. Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid BM; Hammarsjö A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M Front Neurol; 2023; 14():1170005. PubMed ID: 37273706 [TBL] [Abstract][Full Text] [Related]
33. Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database. Schmitz MJ; Aarabi M; Bashar A; Rajkovic A; Gregg AR; Yatsenko SA Clin Genet; 2022 Aug; 102(2):87-97. PubMed ID: 35532184 [TBL] [Abstract][Full Text] [Related]