Results 101 to 110 of about 14,255 (146)

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts. [PDF]

HGG Adv
Itai T, Yan F, Liu A, Dai Y, Iwaya C, Curtis SW, Leslie EJ, Simon LM, Jia P, Chen X, Iwata J, Zhao Z.   +11 more
europepmc   +1 more source

Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy. [PDF]

BMC Med Genomics
Kim OH, Kim J, Kim Y, Lee S, Lee BH, Kim BJ, Park HY, Park MH.   +7 more
europepmc   +1 more source

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients. [PDF]

Sci Rep
Kafkas Ş, Abdelhakim M, Althagafi A, Toonsi S, Alghamdi M, Schofield PN, Hoehndorf R.   +6 more
europepmc   +1 more source

Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and <i>de novo SETBP1</i> mutation. [PDF]

Front Pediatr
Beaman GM, Jarvis BW, Goyal A, Keene DJB, Cervellione M, Lopes FM, Metcalfe KA, Woolf AS, Newman WG.   +8 more
europepmc   +1 more source

Computational identification of disease models through cross-species phenotype comparison.

Dis Model Mech
Cacheiro P, Pava D, Parkinson H, VanZanten M, Wilson R, Gunes O, The International Mouse Phenotyping Consortium, Smedley D.   +7 more
europepmc   +1 more source

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes

Badonyi M, Marsh JA.
europepmc   +1 more source

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders

Clinical Genetics, 2000
In this review, we summarize the current genetic information on human developmental disorders found in Online Mendelian Inheritance in Man (OMIM). The OMIM catalogues human phenotypes and genotypes and relevant mouse models. Among the more than 11 005 genetic disorders and loci, we found at least 1231 human conditions with known gene mutations.
SA Boyadjiev, Ethylin Wang Jabs
semanticscholar   +5 more sources

Searching Online Mendelian Inheritance in Man (OMIM) for Information on Genetic Loci Involved in Human Disease

Current Protocols in Bioinformatics, 2009
AbstractOnline Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can
Bhavesh Borate, Andreas D. Baxevanis
semanticscholar   +4 more sources

Searching Online Mendelian Inheritance in Man (OMIM) for Information on Genetic Loci Involved in Human Disease

Current Protocols in Human Genetics, 2012
AbstractOnline Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can
Andreas D. Baxevanis
semanticscholar   +7 more sources