Rafiullah Rafiullah
Overview
Explore the profile of Rafiullah Rafiullah including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
197
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0
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Recent Articles
1.
Werren E, Peirent E, Jantti H, Guxholli A, Srivastava K, Orenstein N, et al.
Cell Death Dis
. 2024 May;
15(5):379.
PMID: 38816421
CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central...
2.
Almazroea A, Ijaz A, Aziz A, Mushtaq Yasinzai M, Rafiullah R, Rehman F, et al.
Medicina (Kaunas)
. 2023 Jan;
59(1).
PMID: 36676727
Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is...
3.
Rafiullah R, Albalawi A, Alaradi S, Alluqmani M, Mushtaq M, Wali A, et al.
J Neurogenet
. 2022 Dec;
36(4):108-114.
PMID: 36508181
Global developmental delay (GDD) is a lifelong disability that affects 1-3% of the population around the globe. It is phenotypically variable and highly heterogeneous in terms of the underlying genetics....
4.
Al-Hamed M, Kurdi W, Khan R, Tulbah M, Alnemer M, Alsahan N, et al.
Hum Genet
. 2021 Dec;
141(1):101-126.
PMID: 34853893
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used...
5.
Alzahrani A, Alswailem M, Alghamdi B, Rafiullah R, AlDawish M, Al-Hindi H
Endocrine
. 2021 Oct;
75(2):478-486.
PMID: 34637071
Context: RET p.V804M is classified as a moderate risk mutation for familial medullary thyroid cancer (FMTC). There is a significant controversy on the management of patients carrying this mutation. We...
6.
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.
7.
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2,200 previously unpublished Saudi families as a first-tier test.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...
8.
Berkel S, Eltokhi A, Frohlich H, Porras-Gonzalez D, Rafiullah R, Sprengel R, et al.
Front Mol Neurosci
. 2018 Oct;
11:337.
PMID: 30319350
Autism spectrum disorders (ASD) have a higher prevalence in male individuals compared to females, with a ratio of affected boys compared to girls of 4:1 for ASD and 11:1 for...
9.
Rafiullah R, Long A, Ivanova A, Ali H, Berkel S, Mustafa G, et al.
Eur J Hum Genet
. 2017 Dec;
25(12):1324-1334.
PMID: 29255182
ARL13B encodes for the ADP-ribosylation factor-like 13B GTPase, which is required for normal cilia structure and Sonic hedgehog (Shh) signaling. Disruptions in cilia structure or function lead to a class...
10.
Frohlich H, Rafiullah R, Schmitt N, Abele S, Rappold G
Hum Mol Genet
. 2017 Feb;
26(8):1511-1521.
PMID: 28204507
Autism and speech and language deficits are predominantly found in boys, however the causative mechanisms for this sex bias are unknown. Human FOXP1 is associated with autism, intellectual disability and...