H. Stanescu

发表

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

K. Fischbeck, M. Caterina, C. Ludlow, 2010, Nature Genetics.

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Deborah Hughes, Christine Klein, Thomas Foltynie, 2015, American journal of human genetics.

Clinical, genetic and molecular aspects of membranous nephropathy

R. Kleta, H. Stanescu, 2011 .

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

P. Oefner, J. Reddy, M. Ilyas, 2014, The New England journal of medicine.

EAST-Syndrom

R. Kleta, M. Reichold, A. Zdebik, 2011, Der Nephrologe.

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

Johann M B Simbürger, P. Oefner, A. Hammers, 2018, Journal of the American Society of Nephrology : JASN.

Linkage analysis confirms heterogeneity of hereditary gingival fibromatosis.

N. Donos, A. Medlar, R. Kleta, 2013, Oral diseases.

Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility

M. Muenke, D. Wallis, R. Kleta, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Noncoding Deletions Expose a Novel Gene Critical for Intestinal Function

D. Goldstein, D. Dickel, A. Visel, 2019, Nature.

Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity

M. Turner, J. Kopp, R. Kleta, 2009, BMC dermatology.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation

Ellard, M. Weedon, N. Sebire, 2017 .

Translational Nephrology Filtering the genes and sorting the glomerular ﬁlter: a new piece in the puzzle?

R. Kleta, D. Bockenhauer, E. Klootwijk, 2011 .

Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

C. D. Voinescu, A. Woolf, M. Zaniew, 2022, eLife.

Diverse ancestry whole-genome sequencing 1 association study identifies TBX 5 and PTK 7 as 2 susceptibility genes for posterior urethral valves 3 4

Carlo, C. D. Voinescu, D. Gale, 2022 .

EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy)

R. Kleta, A. Zdebik, R. Warth, 2009, Archives of Disease in Childhood.

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

P. Hawkins, R. Kleta, H. Stanescu, 2017, Rheumatology.

Common risk variants in AHI1 are associated with childhood steroid-sensitive nephrotic syndrome

D. Gale, R. Kleta, D. Bockenhauer, 2022, bioRxiv.

Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome

M. Puiu, R. Kleta, N. Issler, 2013 .

Identifying Putative Promoter Regions of Hermansky‐Pudlak Syndrome Genes by Means of Phylogenetic Footprinting

T. Wolfsberg, W. Gahl, W. Westbroek, 2009, Annals of human genetics.

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

C. Bacchelli, F. Moretti, K. Pearce, 2017, The Journal of allergy and clinical immunology.

Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate

F. Castellanos, F. Lopera, J. Bailey-Wilson, 2009, Attention deficit and hyperactivity disorders.

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

J. Mullikin, N. Hansen, D. Geiger, 2010, Blood.

Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome

Carmen Bugarin Diz, D. Gale, M. Saleem, 2022, Pediatric Nephrology.

Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings

R. Kleta, A. Zdebik, D. Bockenhauer, 2013, PLoS ONE.

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

P. Beales, J. Tobin, R. Kleta, 2013, Disease Models & Mechanisms.

Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.

F. Kronenberg, A. Köttgen, A. Ekici, 2017, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

R. Scott, S. Drury, L. Chitty, 2014, American journal of medical genetics. Part A.

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

M. Bitner-Glindzicz, H. Williams, R. Kleta, 2017, Orphanet Journal of Rare Diseases.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Dorothy A. Thompson, M. Hubank, J. Cross, 2009, The New England journal of medicine.

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research.

Ajay K. Singh, R. Kleta, D. Bockenhauer, 2014, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Mixed ancestry analysis of whole-genome sequencing identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

W. Newman, A. Woolf, M. Zaniew, 2021 .

Mixed ancestry analysis of whole-genome sequencing reveals common, rare, and structural variants associated with posterior urethral valves

W. Newman, A. Woolf, M. Zaniew, 2021, medRxiv.

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

N. Klein, K. Nowak, A. Medlar, 2017, The Journal of experimental medicine.

TRAP1 chaperone protein mutations and autoinflammation

N. Klein, P. Hawkins, C. Paisán-Ruiz, 2019, Life Science Alliance.

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

A. Adeyemo, J. Wetzels, D. Gale, 2019, Journal of the American Society of Nephrology : JASN.

Genetics of membranous nephropathy

A. Köttgen, P. Brenchley, R. Kleta, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies

F. Kronenberg, A. Köttgen, A. Ekici, 2017, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

R. Hennekam, S. Ellard, L. Harries, 2009, Journal of the American Society of Nephrology.

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome

R. Kleta, D. Bockenhauer, H. Stanescu, 2016, Molecular genetics & genomic medicine.

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

L. Kiemeney, A. Köttgen, I. Ionita-Laza, 2020, Nature Communications.

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.

C. Freitag, H. Hakonarson, J. Swanson, 2010, Molecular psychiatry.

STAG3 truncating variant as the cause of primary ovarian insufficiency

M. Bitner-Glindzicz, H. Williams, F. Lescai, 2015, European Journal of Human Genetics.

Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.

J. Wetzels, M. Coenen, B. Stengel, 2013, Journal of the American Society of Nephrology : JASN.

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

L. Kiemeney, M. Hubank, S. Padmanabhan, 2011, The New England journal of medicine.

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

L. Kiemeney, M. Hubank, S. Padmanabhan, 2011, New England Journal of Medicine.

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

L. Kiemeney, A. Köttgen, I. Ionita-Laza, 2020, Nature Communications.

NT5E mutations and arterial calcifications.

R. Nussbaum, R. Lederman, W. Gahl, 2011, The New England journal of medicine.

Mutations and Arterial Calcifications

R. Nussbaum, R. Lederman, T. Markello, 2011 .

Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations

A. Woolf, R. Kleta, E. Klootwijk, 2011, Pediatric Nephrology.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

H. Williams, D. Curtis, K. Tory, 2020, Proceedings of the National Academy of Sciences.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.

S. Bauer, Weining Lu, D. Magen, 2017, Journal of the American Society of Nephrology : JASN.

Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia

J. Hardy, K. Bhatia, D. Trabzuni, 2013, Annals of neurology.

Membranous nephropathy in the UK Biobank

S. Roberts, M. Gittins, P. Brenchley, 2023, medRxiv.

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.

D. Hernandez, A. Singleton, S. Züchner, 2013, American journal of human genetics.

SwiftLink: parallel MCMC linkage analysis using multicore CPU and GPU

Dorota Glowacka, Alan Medlar, Kevin Bryson, 2013, Bioinform..

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

H. Hakonarson, M. Bayés, J. McCracken, 2010, Molecular Psychiatry.

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

S. Arora, D. Gale, P. Brenchley, 2021, Kidney international reports.

Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2

M. Weedon, S. Ellard, N. Sebire, 2017 .

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

M. Weedon, S. Ellard, N. Sebire, 2017, Journal of the American Society of Nephrology : JASN.

A candidate gene for autoimmune myasthenia gravis

Janel O. Johnson, D. Hernandez, K. Fischbeck, 2012, Neurology.

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

A. Singleton, J. Hardy, M. Viitanen, 2017, Brain : a journal of neurology.

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

R. Kleta, D. Bockenhauer, H. Stanescu, 2016, Rare diseases.

Mutations in NRIP 1 cause dominant urinary tract malformations via dysregulation of retinoic acid signaling

Yair, Weining Lu, D. Magen, 2017 .

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.

N. Samani, C. Nelson, D. Gale, 2017, Journal of the American Society of Nephrology : JASN.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2015, Journal of Medical Genetics.

Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2016, Journal of Medical Genetics.

Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?

R. Kleta, D. Bockenhauer, E. Klootwijk, 2011, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura

M. Hubank, D. Gale, L. Galicier, 2021, Haematologica.

HaploForge: a comprehensive pedigree drawing and haplotype visualization web application

Alan Medlar, Monika Mozere, Mehmet Tekman, 2017, Bioinform..

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

R. Kleta, A. Zdebik, S. Hulton, 2011, The Journal of physiology.

A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy

D. Gale, P. Brenchley, R. Kleta, 2023, Glomerular Diseases.

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

R. Kleta, D. Bockenhauer, H. Stanescu, 2018, BMC Bioinformatics.

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

H. Schulze, P. Oefner, L. Tabernero, 2022, Journal of the American Society of Nephrology : JASN.