Mohammed Zain Seidahmed
Overview
Explore the profile of Mohammed Zain Seidahmed including associated specialties, affiliations and a list of published articles.
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23
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961
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Recent Articles
1.
Aldhilan A, Alhakeem A, Al Hajjaj S, Abukhalid M, Aldhalaan H, Salah E, et al.
Pediatr Neurol
. 2022 Jul;
134:78-82.
PMID: 35841715
Background: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations...
2.
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.
3.
Seidahmed M, Maddirevula S, Miqdad A, Al Faifi A, Al Samadi A, Alkuraya F
Am J Med Genet A
. 2020 Dec;
185(3):945-948.
PMID: 33369052
Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported...
4.
Blackburn P, Schultz M, Lahner C, Li D, Bhoj E, Fisher L, et al.
Ann Clin Transl Neurol
. 2020 Jun;
7(6):1013-1028.
PMID: 32519519
Objective: We describe the clinical characteristics and genetic etiology of several new cases within the ACO2-related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear-encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic...
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.
Seidahmed M, Al-Kindi A, Alsaif H, Miqdad A, Alabbad N, Alfifi A, et al.
Hum Genet
. 2020 Jan;
139(4):513-519.
PMID: 31960134
Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In...
7.
Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea M, Kayyali H, Alhashem A, et al.
Genet Med
. 2018 Sep;
21(3):736-742.
PMID: 30237576
Purpose: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput...
8.
Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam G, Zaki M, et al.
Genet Med
. 2018 Sep;
21(3):545-552.
PMID: 30214071
Purpose: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM....
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.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, et al.
Hum Genet
. 2017 Jun;
136(8):921-939.
PMID: 28600779
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian...