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Loop profile: 512096
ResearcherID: Q-1361-2018

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Saudi Arabia

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Employment (1)

Baylor College of Medicine: Houston, Texas, US

2018-06-24 to present
Employment
Source: Self-asserted source
0000-0001-8324-5203

Works (5)

Biallelic mutations in TTC26 (IFT56) cause severe biliary ciliopathy in humans.

Hepatology (Baltimore, Md.)
2019-10 | Journal article
DOI: 10.1002/hep.30982
PMID: 31595528
Contributors: Shaheen R; Alsahli S; Ewida N; Alzahrani F; Shamseldin HE; Patel N; Al Qahtani A; Alhebby H; Alhashem A; Al-Sheddi T et al.
Source: Self-asserted source
0000-0001-8324-5203 via Europe PubMed Central

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.

Neurogenetics
2019-04 | Journal article
DOI: 10.1007/s10048-019-00573-6
PMID: 30972502
Contributors: Alsahli S; Alfares A; Guzmán-Vega FJ; Arold ST; Ba-Armah D; Al Mutairi F
Source: Self-asserted source
0000-0001-8324-5203 via Europe PubMed Central

Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency.

ACG case reports journal
2018-12 | Journal article
DOI: 10.14309/crj.2018.93
PMID: 30775396
PMC: PMC6358571
Contributors: Alsahli S; Al Anazi A; Al Hatlani MM; Kashgari A; Al Sufiani F; Alfadhel M; Al Mutairi F
Source: Self-asserted source
0000-0001-8324-5203 via Europe PubMed Central

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy.

Epilepsia open
2018-11 | Journal article
DOI: 10.1002/epi4.12263
PMID: 30525121
PMC: PMC6276780
Contributors: Alsahli S; Al-Twaijri W; Al Mutairi F
Source: Self-asserted source
0000-0001-8324-5203 via Europe PubMed Central

Genomic and phenotypic delineation of congenital microcephaly.

Genetics in medicine : official journal of the American College of Medical Genetics
2018-09 | Journal article
DOI: 10.1038/s41436-018-0140-3
PMID: 30214071
Contributors: Shaheen R; Maddirevula S; Ewida N; Alsahli S; Abdel-Salam GMH; Zaki MS; Tala SA; Alhashem A; Softah A; Al-Owain M et al.
Source: Self-asserted source
0000-0001-8324-5203 via Europe PubMed Central

Peer review (1 review for 1 publication/grant)

Review activity for Human Genetics and Genomics advances. (1)
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