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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

American journal of human genetics, 2015-06, Vol.96 (6), p.938-947

2015

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Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

Journal of the American Society of Nephrology, 2018-07, Vol.29 (7), p.1849-1858

2018

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OVAS: an open-source variant analysis suite with inheritance modelling

BMC bioinformatics, 2018-02, Vol.19 (1), p.46-46, Article 46

2018

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Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy

Kidney international reports, 2021-06, Vol.6 (6), p.1669-1676

2021

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Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1674-n/a

2021

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The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2022 update

Nucleic acids research, 2022-07, Vol.50 (W1), p.W345

Galaxy Community

2022

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HaploForge: a comprehensive pedigree drawing and haplotype visualization web application

Bioinformatics (Oxford, England), 2017-12, Vol.33 (24), p.3871-3877

2017

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Eomes restricts Brachyury functions at the onset of mouse gastrulation

Developmental cell, 2023-09, Vol.58 (18), p.1627-1642.e7

2023

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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Journal of the American Society of Nephrology, 2017-08, Vol.28 (8), p.2529-2539

2017

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STAG3 truncating variant as the cause of primary ovarian insufficiency

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.135-138

2016

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A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

Journal of the American Society of Nephrology, 2022-04, Vol.33 (4), p.732-745

2022

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Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration

Rheumatology (Oxford, England), 2017-02, Vol.56 (2), p.209-213

2017

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Noncoding deletions reveal a gene that is critical for intestinal function

Nature (London), 2019-07, Vol.571 (7763), p.107-111

2019

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A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1777-1783

2014

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Noncoding Deletions Expose a Novel Gene Critical for Intestinal Function

Nature (London), 2019-06, Vol.571 (7763), p.107-111

2019

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An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Orphanet journal of rare diseases, 2017-02, Vol.12 (1), p.24-24, Article 24

2017

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Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome

Molecular genetics & genomic medicine, 2016-09, Vol.4 (5), p.521-526

2016

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Founder mutation in KCNJ 10 in P akistani patients with EAST syndrome

Molecular genetics & genomic medicine, 2016-09, Vol.4 (5), p.521-526

2016

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Phytochemical Analysis and Evaluation of Genotoxic, Antigenotoxic Effects in Bacterial Models, and Hypoglycemic Activity of Epilobium angustifolium L. with Bioguided Isolation of Active Compounds

Chemistry & biodiversity, 2023-12, Vol.20 (12), p.e202300922-n/a

2023

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Phytochemical screening, biological evaluation, anatomical, and morphological investigation of Ferula tingitana L. (Apiaceae)

Protoplasma, 2023-11, Vol.260 (6), p.1581-1601

2023

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Anatomical, Morphological, and Chemical Characterizations and Biological Activities of Gagea taurica Steven (Liliaceae): A New Record for the Turkish Flora

Chemistry & biodiversity, 2023-09, Vol.20 (9), p.e202300416-e202300416

2023

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Qualitative and quantitative phytochemicals of essential oils and extracts of Thymbra spicata subsp. spicata L. as a spice for diabetes mellitus

Flavour and fragrance journal, 2023-09, Vol.38 (5), p.378-391

2023

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Purification and characterization of glutathione reductase from rainbow trout ( Oncorhynchus mykiss) liver and inhibition effects of metal ions on enzyme activity

Comparative biochemistry and physiology. Toxicology & pharmacology, 2008-08, Vol.148 (2), p.117-121

2008

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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

OVAS: an open-source variant analysis suite with inheritance modelling

Delayed boosting improves human antigen-specific Ig and B cell responses to the RH5.1/AS01B malaria vaccine

Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2022 update

HaploForge: a comprehensive pedigree drawing and haplotype visualization web application

Eomes restricts Brachyury functions at the onset of mouse gastrulation

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

STAG3 truncating variant as the cause of primary ovarian insufficiency

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration

Noncoding deletions reveal a gene that is critical for intestinal function

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation

Noncoding Deletions Expose a Novel Gene Critical for Intestinal Function

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

A single-cell RNA-sequencing training and analysis suite using the Galaxy framework

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome

Founder mutation in KCNJ 10 in P akistani patients with EAST syndrome

Phytochemical Analysis and Evaluation of Genotoxic, Antigenotoxic Effects in Bacterial Models, and Hypoglycemic Activity of Epilobium angustifolium L. with Bioguided Isolation of Active Compounds

Phytochemical screening, biological evaluation, anatomical, and morphological investigation of Ferula tingitana L. (Apiaceae)

Anatomical, Morphological, and Chemical Characterizations and Biological Activities of Gagea taurica Steven (Liliaceae): A New Record for the Turkish Flora

Qualitative and quantitative phytochemicals of essential oils and extracts of Thymbra spicata subsp. spicata L. as a spice for diabetes mellitus

Purification and characterization of glutathione reductase from rainbow trout ( Oncorhynchus mykiss) liver and inhibition effects of metal ions on enzyme activity

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