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1 . Academic Journal
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
저자
by
Viorica Chelban
;
Henriette Aksnes
;
Reza Maroofian
;
Lauren C. LaMonica
;
Luis Seabra
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Open Access (DOAJ)
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7 . Academic Journal
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing
저자
by
Danya Salah Baz
;
Dareen Baz
;
Fawzah Alrwuili
;
Abdullah Aldowaish
;
Hanan E. Shamseldin
, et al.
소스
Frontiers in Pediatrics, Vol 12 (2024)
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7 . Academic Journal
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
저자
by
Lama AlAbdi
;
Hanan E. Shamseldin
;
Ebtissal Khouj
;
Rana Helaby
;
Bayan Aljamal
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Open Access (BioMed Central)
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7 . Academic Journal
Massive underrepresentation of Arabs in genomic studies of common disease
저자
by
Romit Bhattacharya
;
NingNing Chen
;
Injeong Shim
;
Hiroyuki Kuwahara
;
Xin Gao
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-5 (2023)
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7 . Academic Journal
Clinical utility of polygenic scores for cardiometabolic disease in Arabs
저자
by
Injeong Shim
;
Hiroyuki Kuwahara
;
NingNing Chen
;
Mais O. Hashem
;
Lama AlAbdi
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalitiesResearch in context
저자
by
Niu Li
;
Yufei Xu
;
Hongzhu Chen
;
Jingqi Lin
;
Lama AlAbdi
, et al.
소스
EBioMedicine, Vol 99, Iss , Pp 104940- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
저자
by
Lama AlAbdi
;
Sateesh Maddirevula
;
Hanan E. Shamseldin
;
Ebtissal Khouj
;
Rana Helaby
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
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7 . Academic Journal
Cone dystrophy associated with autoimmune polyglandular syndrome type 1
저자
by
Abdulrahman Badawi
;
Moustafa Magliyah
;
Omar Alabbasi
;
Lama AlAbdi
;
Fowzan S. Alkuraya
, et al.
소스
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
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7 . Academic Journal
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
저자
by
Carolina Gracia-Diaz
;
Yijing Zhou
;
Qian Yang
;
Reza Maroofian
;
Paula Espana-Bonilla
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
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7 . Academic Journal
The clinical utility of rapid exome sequencing in a consanguineous population
저자
by
Dorota Monies
;
Ewa Goljan
;
Rapid Exome Consortium
;
Mirna Assoum
;
Muna Albreacan
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-14 (2023)
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