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Confirming TBC1D32‐related ciliopathy in humans

American journal of medical genetics. Part A, 2020-08, Vol.182 (8), p.1985-1987

2020

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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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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Genome Biology, 2020-06, Vol.21 (1), p.1-145, Article 145

2020

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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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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

The Journal of experimental medicine, 2020-03, Vol.217 (3)

2020

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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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An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity

Human mutation, 2020-03, Vol.41 (3), p.600-607

2020

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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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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Nature genetics, 2011-03, Vol.43 (3), p.197-203

2011

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Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene

Stem cell research, 2024-12, Vol.81, p.103599, Article 103599

2024

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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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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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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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Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice

Scientific reports, 2018-06, Vol.8 (1), p.9202-20, Article 9202

2018

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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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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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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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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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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

American journal of human genetics, 2016-09, Vol.99 (3), p.785-785

2016

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FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

American journal of human genetics, 2009-09, Vol.85 (3), p.414-418

2009

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Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

Nature medicine, 2020-02, Vol.26 (2), p.300-300

2020

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Confirming TBC1D32‐related ciliopathy in humans

Expanding the genetic heterogeneity of intellectual disability

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Residual risk for additional recessive diseases in consanguineous couples

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

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

An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity

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

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

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

Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene

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

ZNF668 deficiency causes a recognizable disorder of DNA damage repair

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

The natural history of infantile neuroaxonal dystrophy

Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice

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

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

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

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

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

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