Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H et al.
Journal of Inherited Metabolic Disease, 2021
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
Farolfi M et al.
Bmc Ophthalmology, 2021
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Bian Y et al.
Journal of Human Genetics, 2020
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N et al.
Human Mutation, 2019
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.
Deeb A et al.
Clinical Case Reports, 2018
Congenital disorders of glycosylation: The Saudi experience.
Alsubhi S et al.
American Journal of Medical Genetics. Part A, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Rimella-Le-Huu A et al.
Journal of Inherited Metabolic Disease, 2008
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.
Sun L et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.
Riess S et al.
Molecular Genetics and Metabolism, 0
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