Title : Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families - Shamseldin_2015_Genome.Biol_16_116 |
Author(s) : Shamseldin HE , Tulbah M , Kurdi W , Nemer M , Alsahan N , Al Mardawi E , Khalifa O , Hashem A , Kurdi A , Babay Z , Bubshait DK , Ibrahim N , Abdulwahab F , Rahbeeni Z , Hashem M , Alkuraya FS |
Ref : Genome Biol , 16 :116 , 2015 |
Abstract :
BACKGROUND: Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human development at a molecular level. Consanguineous families in which embryonic lethality segregates as a recessive Mendelian phenotype offer a unique opportunity for high throughput novel gene discovery as has been established for other recessive postnatal phenotypes. |
PubMedSearch : Shamseldin_2015_Genome.Biol_16_116 |
PubMedID: 26036949 |
Gene_locus related to this paper: human-CTSA |
Mutation | L199FfsX_human-CTSA |
Gene_locus | human-CTSA |
Disease | Galactosialidosis |
Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, Khalifa O, Hashem A, Kurdi A, Babay Z, Bubshait DK, Ibrahim N, Abdulwahab F, Rahbeeni Z, Hashem M, Alkuraya FS (2015)
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
Genome Biol
16 :116
Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, Khalifa O, Hashem A, Kurdi A, Babay Z, Bubshait DK, Ibrahim N, Abdulwahab F, Rahbeeni Z, Hashem M, Alkuraya FS (2015)
Genome Biol
16 :116