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Residual risk for additional recessive diseases in consanguineous couples

Genetics in medicine, 2021-12, Vol.23 (12), p.2448-2454

2021

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New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin

Journal of human genetics, 2021-02, Vol.66 (2), p.151-159

2021

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A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma

Journal of clinical immunology, 2020-08, Vol.40 (6), p.833-839

2020

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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Nature communications, 2023-08, Vol.14 (1), p.5269-5269, Article 5269

2023

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An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia

Human genetics, 2020-10, Vol.139 (10), p.1273-1283

2020

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ZNF668 deficiency causes a recognizable disorder of DNA damage repair

Human genetics, 2021-09, Vol.140 (9), p.1395-1401

2021

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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1509-1519

2020

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The natural history of infantile neuroaxonal dystrophy

Orphanet journal of rare diseases, 2020-05, Vol.15 (1), p.109-109, Article 109

2020

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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Journal of molecular medicine (Berlin, Germany), 2021-12, Vol.99 (12), p.1769-1770

2021

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Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing

Frontiers in pediatrics, 2024-04, Vol.12, p.1392444-1392444

2024

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Consanguineous families with unusually high recurrence risk: A voice to be heard in the germline gene‐editing debate

Clinical genetics, 2022-12, Vol.102 (6), p.560-561

Alkuraya, Fowzan S.

2022

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Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene

Stem cell research, 2021-01, Vol.50, p.102148-102148, Article 102148

2021

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Phenotypic expansion of OTUD6B‐related syndrome

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1530-1531

Alkuraya, Fowzan S.

2020

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Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

Clinical genetics, 2023-01, Vol.103 (1), p.125-126

2023

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Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

Frontiers in genetics, 2020-12, Vol.11, p.580484-580484

2020

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Clonal Evolution and Timing of Metastatic Colorectal Cancer

Cancers, 2020-10, Vol.12 (10), p.2938

2020

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Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

HGG advances, 2021-07, Vol.2 (3), p.100034-100034, Article 100034

2021

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Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome

Human genetics, 2024-06, Vol.143 (6), p.739-745

2024

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Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

Frontiers in pediatrics, 2020-02, Vol.8, p.9

2020

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Genetics and genomic medicine in Saudi Arabia

Molecular genetics & genomic medicine, 2014-09, Vol.2 (5), p.369-378

Alkuraya, Fowzan S.

2014

Volltextzugriff (PDF)

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

Annals of clinical and translational neurology, 2022-08, Vol.9 (8), p.1276-1288

2022

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Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity

Gut, 2016-09, Vol.65 (9), p.1575-1577

2016

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Natural human knockouts and the era of genotype to phenotype

Genome medicine, 2015-05, Vol.7 (1), p.48-48, Article 48

Alkuraya, Fowzan S

2015

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Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

Kidney international reports, 2021-02, Vol.6 (2), p.460-471

2021

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Residual risk for additional recessive diseases in consanguineous couples

New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin

A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia

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

ZNF668 deficiency causes a recognizable disorder of DNA damage repair

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

The natural history of infantile neuroaxonal dystrophy

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing

Consanguineous families with unusually high recurrence risk: A voice to be heard in the germline gene‐editing debate

Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene

Phenotypic expansion of OTUD6B‐related syndrome

Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

Clonal Evolution and Timing of Metastatic Colorectal Cancer

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

Genetics and genomic medicine in Saudi Arabia

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity

Natural human knockouts and the era of genotype to phenotype

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

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