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Variants of uncertain significance is a clinical dilemma

Journal of Biochemical and Clinical Genetics, 2021-12, Vol.4 (2), p.68-69

Alfadhel, Majid

2021

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Carnitine Inborn Errors of Metabolism

Molecules (Basel, Switzerland), 2019-09, Vol.24 (18), p.3251

2019

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First successful outcomes of pegvaliase (PALYNZIQ) in children

BMC medical genomics, 2024-03, Vol.17 (1), p.76-76

2024

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Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review

Journal of central nervous system disease, 2017, Vol.9, p.1179573517737521

Alfadhel, Majid

2017

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Multiple Mitochondrial Dysfunctions Syndrome 4 Due to ISCA2 Gene Defects: A Review

Child Neurology Open, 2019, Vol.6, p.2329048X19847377-2329048X19847377

Alfadhel, Majid

2019

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Clinical Genetics of Polydactyly: An Updated Review

Frontiers in genetics, 2018-11, Vol.9, p.447-447

2018

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Journal of Biochemical and Clinical Genetics: A Great Step Forward in Genomic Research

Journal of Biochemical and Clinical Genetics, 2018-06, Vol.1 (1), p.1-1

Alfadhel, Majid

2018

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Clinical genetics of spondylocostal dysostosis: A mini review

Frontiers in genetics, 2022-11, Vol.13, p.996364-996364

2022

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A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

Scientific reports, 2021-06, Vol.11 (1), p.12861-12861, Article 12861

2021

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Expanding the genetic heterogeneity of intellectual disability

Human genetics, 2017-11, Vol.136 (11-12), p.1419-1429

2017

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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.141-153

2021

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Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease

Brain & development (Tokyo. 1979), 2022-10, Vol.44 (9), p.618-622

2022

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Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

Frontiers in genetics, 2022-11, Vol.13, p.1047474-1047474

2022

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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Brain (London, England : 1878), 2018-07, Vol.141 (7), p.1934-1945

2018

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Prevention of hemoglobinopathies in Saudi Arabia: efficacy of national premarital screening and the feasibility of preimplantation genetic diagnosis

Journal of Biochemical and Clinical Genetics, 2020-12, Vol.3 (2), p.94-99

2020

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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency

Frontiers in neurology, 2019-04, Vol.10, p.411

2019

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Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Human genetics, 2016-05, Vol.135 (5), p.525-540

2016

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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Genetics in medicine, 2021-08, Vol.23 (8), p.1551-1568

2021

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Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia

Frontiers in genetics, 2021-02, Vol.12, p.630787-630787

2021

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Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

Frontiers in neurology, 2021-03, Vol.12, p.633119-633119

2021

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Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy

Frontiers in endocrinology (Lausanne), 2021-09, Vol.12, p.742278

2021

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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Orphanet journal of rare diseases, 2016-09, Vol.11 (1), p.126-126, Article 126

2016

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A novel homozygous splice site variant in the CLCN7 causes osteopetrosis

Journal of King Saud University. Science, 2023-01, Vol.35 (1), p.102377, Article 102377

2023

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Variants of uncertain significance is a clinical dilemma

Carnitine Inborn Errors of Metabolism

First successful outcomes of pegvaliase (PALYNZIQ) in children

Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review

Multiple Mitochondrial Dysfunctions Syndrome 4 Due to ISCA2 Gene Defects: A Review

Clinical Genetics of Polydactyly: An Updated Review

Journal of Biochemical and Clinical Genetics: A Great Step Forward in Genomic Research

Clinical genetics of spondylocostal dysostosis: A mini review

A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

Expanding the genetic heterogeneity of intellectual disability

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Prevention of hemoglobinopathies in Saudi Arabia: efficacy of national premarital screening and the feasibility of preimplantation genetic diagnosis

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia

Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

A novel homozygous splice site variant in the CLCN7 causes osteopetrosis

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