F. Al-Murshedi

发表

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

F. Alkuraya, E. Faqeih, K. Al-Thihli, 2017, Human Genetics.

Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder

B. Venkatesh, M. Coleman, A. Bertoli-Avella, 2022, medRxiv.

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

A. Al-Futaisi, K. Al-Thihli, F. Zadjali, 2018, Clinical genetics.

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study

Z. Bruwer, A. Al-Maawali, S. Naseem, 2022, Journal of Clinical Immunology.

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population

Z. Bruwer, Khalid Al-Thihli, A. Al-Kindy, 2015, Journal of Autism and Developmental Disorders.

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population

K. Al-Thihli, Z. Bruwer, A. Al-Kindy, 2015, Journal of Autism and Developmental Disorders.

Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease.

Z. Bruwer, K. Al-Kharusi, Douja Meftah, 2016, Oman medical journal.

Ocular Manifestations of Inborn Errors of Metabolism

K. Al-Thihli, A. Ganesh, F. al-Murshedi, 2017 .

Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Robert W. Taylor, E. Bertini, T. Meitinger, 2017 .

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Robert W. Taylor, E. Bertini, T. Meitinger, 2014, American journal of human genetics.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

M. Patton, A. Cazenave-Gassiot, M. Wenk, 2017, Brain : a journal of neurology.

Critical role of PCYT2 in muscle health and aging

G. Superti-Furga, J. Penninger, C. Knauf, 2023, bioRxiv.

PCYT2 controls muscle health and muscle aging

Banka, G. Superti-Furga, J. Penninger, 2021 .

Guidelines for acute management of hyperammonemia in the Middle East region

K. Al-Thihli, T. Ben-Omran, J. Häberle, 2016, Therapeutics and clinical risk management.

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

A. Al-Asmi, Z. Bruwer, F. Zadjali, 2022, Scientific Reports.

Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?

F. al-Murshedi, P. Scott, D. Meftah, 2019, European journal of medical genetics.

Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome

M. Huynen, R. Rodenburg, J. N. Spelbrink, 2022, Journal of inherited metabolic disease.

Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study

K. Al-Thihli, M. Islam, F. al-Murshedi, 2014, Human Heredity.

Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.

R. Koul, F. al-Murshedi, R. Mani, 2013, Sultan Qaboos University medical journal.

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

R. Rodenburg, H. Venselaar, L. Nijtmans, 2017, Human mutation.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

F. Alkuraya, E. Faqeih, K. Al-Thihli, 2017, Human Genetics.

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Jacob O Day, R. Maroofian, H. Houlden, 2022, Brain : a journal of neurology.

Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort

S. Ellard, S. Flanagan, A. Deeb, 2015, Hormone Research in Paediatrics.

PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing

G. Superti-Furga, J. Penninger, C. Knauf, 2023, Nature Metabolism.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

N. Brown, S. Ellard, M. Broly, 2022, American journal of human genetics.

Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variants

A. Al-Futaisi, A. Al-Maawali, H. Mirza, 2020, Clinical genetics.

Encephalopathy mimicking non-convulsive status Epilepticus

R. Nandhagopal, F. al-Murshedi, M. Al-Busaidi, 2018, Neurosciences.

Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1

K. Al-Thihli, D. Al-Nabhani, F. Al-Murshedi, 2021, Sultan Qaboos University medical journal.

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

N. Blau, E. Faqeih, A. El-Hattab, 2019, Pediatric neurology.

Severe acute disseminated encephalomyelitis mimicking leukodystrophy in a child.

R. Koul, A. Al-Futaisi, F. al-Murshedi, 2014, Sultan Qaboos University medical journal.

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

S. Scherer, C. Marshall, T. Paton, 2014, European Journal of Human Genetics.

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Type I Diabetes Mellitus: Case Report and Management challenges.

Abdullah M Al Alawi, Suneel Kumar, F. Al-Murshedi, 2023, Clinical biochemistry.