Associated Papers
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6
Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Mohamad J et al.
Experimental Dermatology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
Nanda A et al.
International Journal of Dermatology, 2018
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
28248968 (PubMed )
Supplement: pone.0172189.s003.pdf
Novel TGM5 mutations in acral peeling skin syndrome.
van der Velden JJ et al.
Experimental Dermatology, 2015
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
Szczecinska W et al.
The British Journal of Dermatology, 2014
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
Pigors M et al.
The Journal of Investigative Dermatology, 2012
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.
van der Velden JJ et al.
Journal of Dermatological Science, 2012
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
Kiritsi D et al.
The Journal of Investigative Dermatology, 2010
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
Kharfi M et al.
The Journal of Investigative Dermatology, 2009
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