Hisham Alkuraya
Overview
Explore the profile of Hisham Alkuraya including associated specialties, affiliations and a list of published articles.
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29
Citations
1263
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Recent Articles
1.
AlAbdi L, Maddirevula S, Aljamal B, Hamid H, Almulhim A, Hashem M, et al.
Med
. 2024 Nov;
6(3):100528.
PMID: 39504961
Background: Founder variants are ancestral variants shared by individuals who are not closely related. The large effect size of some of these variants in the context of Mendelian disorders offers...
2.
AlAbdi L, Shamseldin H, Khouj E, Helaby R, Aljamal B, Alqahtani M, et al.
Genome Med
. 2023 Dec;
15(1):114.
PMID: 38098057
Background: Long-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible by short-read WGS. However, its utility in autosomal recessive...
3.
Shamseldin H, Shaheen R, Ewida N, Bubshait D, Alkuraya H, Almardawi E, et al.
Genet Med
. 2022 Apr;
24(4):966.
PMID: 35394428
No abstract available.
4.
Maddirevula S, Ben-Omran T, AlMureikhi M, Eyaid W, Arabi H, Alkuraya H, et al.
Am J Med Genet A
. 2020 Sep;
182(12):2999-3006.
PMID: 32965080
Recently, the genetic cause of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities) was identified as biallelic pathogenic variants in P4HTM, which encodes an atypical member of...
5.
Shamseldin H, Shaheen R, Ewida N, Bubshait D, Alkuraya H, Almardawi E, et al.
Genet Med
. 2020 Feb;
22(6):1051-1060.
PMID: 32055034
Purpose: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly. Methods: Detailed phenotypic and genomic analysis of...
6.
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman S, Nowilaty S, et al.
Clin Genet
. 2019 Nov;
97(3):447-456.
PMID: 31730227
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising...
7.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, et al.
Am J Hum Genet
. 2019 Oct;
105(4):879.
PMID: 31585110
No abstract available.
8.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, et al.
Am J Hum Genet
. 2019 May;
104(6):1182-1201.
PMID: 31130284
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key...
9.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin H, et al.
Genet Med
. 2018 Apr;
20(12):1609-1616.
PMID: 29620724
Purpose: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized. Methods: Detailed phenotyping and next-generation sequencing...
10.
Alsaif H, Khan A, Patel N, Alkuraya H, Hashem M, Abdulwahab F, et al.
Hum Genet
. 2018 Mar;
138(8-9):1043-1049.
PMID: 29556725
Primary congenital glaucoma is a trabecular meshwork dysgenesis with resultant increased intraocular pressure and ocular damage. CYP1B1 mutations remain the most common identifiable genetic cause. However, important questions about the...