Literature DB >> 32412169

SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder.

Gabrielle Lemire1, Stella K MacDonald1, Kym M Boycott1,2.   

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Year:  2020        PMID： 32412169     DOI： 10.1002/ajmg.a.61616

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

Authors:  Fatema Alzahrani; Hiroyuki Kuwahara; Yongkang Long; Mohammed Al-Owain; Mohamed Tohary; Moeenaldeen AlSayed; Mohammed Mahnashi; Lana Fathi; Maha Alnemer; Mohamed H Al-Hamed; Gabrielle Lemire; Kym M Boycott; Mais Hashem; Wenkai Han; Almundher Al-Maawali; Feisal Al Mahrizi; Khalid Al-Thihli; Xin Gao; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2020-11-25       Impact factor: 11.025

2.  Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.

Authors:  Qi Yang; Zailong Qin; Qinle Zhang; Shang Yi; Sheng Yi; Jingsi Luo
Journal:  BMC Med Genomics       Date:  2022-03-23       Impact factor: 3.063
  2 in total

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