OSGEP-Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal Trajectories.

A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.

Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.

Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.

Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.

Late Presentation of Galloway-Mowat Syndrome (GAMOS) Associated With Membranous Nephropathy: A Case Report.

Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.

Structures of KEOPS bound to tRNA reveal functional roles of the kinase Bud32.

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.

Secondary haematological dysplasia after CAR-T-cell therapy for acute lymphoblastic leukaemia in children.

O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells.

Assembly mechanism of Integrator's RNA cleavage module.

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.

Prdm15 acts upstream of Wnt4 signaling in anterior neural development of Xenopus laevis.

Ulectomy in a patient with nephrotic syndrome under investigation for Galloway-Mowat syndrome: a case report.

Vitamin C deficiency in critically ill COVID-19 patients admitted to intensive care unit.

Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.

A new case of Melnick-Needles syndrome with skeletal manifestations: A case report.

ER stress and slit diaphragms: is there a connection?

Novel TP53RK variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients.

Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran.

Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.

X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant.

Wdr4 promotes cerebellar development and locomotion through Arhgap17-mediated Rac1 activation.

The transcription factor ATF4 mediates endoplasmic reticulum stress-related podocyte injury and slit diaphragm defects.

Conservation and Diversification of tRNA t6A-Modifying Enzymes across the Three Domains of Life.

WDR73 Depletion Destabilizes PIP4K2C Activity and Impairs Focal Adhesion Formation in Galloway-Mowat Syndrome.

Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome.

Neuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant.

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.

Galloway-Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review.

A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.

A suite of in vitro and in vivo assays for monitoring the activity of the pseudokinase Bud32.

Commonality and diversity in tRNA substrate recognition in t6A biogenesis by eukaryotic KEOPSs.

Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.

Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis.

The structural and functional workings of KEOPS.

Neurological involvement in monogenic podocytopathies.

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.

Crystal structure of the human PRPK-TPRKB complex.

A Prospective Cohort of SARS-CoV-2-Infected Health Care Workers: Clinical Characteristics, Outcomes, and Follow-up Strategy.

A substrate binding model for the KEOPS tRNA modifying complex.

An unusual kidney presentation of severe proteinuria in a 2-year-old girl: Answers.

Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series.

Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant.

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

An unusual case of nephrotic syndrome in a microcephalic infant: Answers.

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.

WDR73-related galloway mowat syndrome with collapsing glomerulopathy.

Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent.

Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Differences in cardio-ankle vascular index in a general Mediterranean population depending on the presence or absence of metabolic cardiovascular risk factors.

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway.

Seizures Related to Hypomagnesemia: A Case Series and Review of the Literature.

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Early onset nephrotic syndrome with dysmorphic facies and microcephaly.

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.