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Naomi Issler

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
2020 · Jingyuan Xie, Lili Liu, et al. · Nature Communications · 217
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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
2017 · Oscar Rubio Cabezas, Sarah E. Flanagan, et al. · Journal of the American Society of Nephrology · 114
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
2013 · Graciana Jaureguiberry, Muriel De la Dure-Molla, et al. · Nephron Physiology · 106
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Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
2018 · Markus Reichold, Enriko D. Klootwijk, et al. · Journal of the American Society of Nephrology · 96
Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK
2017 · Naomi Issler, Stephanie Dufek, et al. · BMC Nephrology · 93
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Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome
2019 · Stephanie Dufek, Chris Cheshire, et al. · Journal of the American Society of Nephrology · 61
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Renal Hypodysplasia Associates with a Wnt4 Variant that Causes Aberrant Canonical Wnt Signaling
2013 · Asaf Vivante, Michal Mark-Danieli, et al. · Journal of the American Society of Nephrology · 48
KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16
2013 · Sophie Parrock, Sofia Hussain, et al. · Nephron Physiology · 40
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A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights
2022 · Ben Pode-Shakked, Yishay Ben-Moshe, et al. · Pediatric Nephrology · 23
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness
2022 · Naomi Issler, Sara Afonso, et al. · Journal of the American Society of Nephrology · 13
Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome
2016 · Enriko Klootwijk, Stephanie Dufek, et al. · Expert Opinion on Orphan Drugs · 8
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Quantification of FAM20A in human milk and identification of calcium metabolism proteins
2021 · Vaksha Patel, Enriko Klootwijk, et al. · Physiological Reports · 5
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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
2018 · Cabezas OR, Flanagan SE, et al. · Yearbook of pediatric endocrinology · 5
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility
2023 · Katrin Meindl, Naomi Issler, et al. · Frontiers in Cell and Developmental Biology · 4
Estimated pediatric glomerular filtration rate presentation improves the detection rate of kidney impairment in children
2023 · Aviad Schnapp, Yonatan Egger, et al. · Pediatric Nephrology · 2
Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2
2017 · OR Cabezas, Sarah P. Flanagan, et al. · UCL Discovery (University College London)
To029epidemiology of Paediatric Urolithiasis in a Large Cohort in Uk
2016 · Stephanie Dufek, Naomi Issler, et al. · Nephrology Dialysis Transplantation
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Clinical, genetic and molecular studies into hereditary renal tubular proteinuria
2014 · Naomi Issler · UCL Discovery (University College London)
Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome
2013 · Simona Dumitriu, Enriko Klootwijk, et al. · Revista română de medicină de laborator
Front & Back Matter
2013 · Sophie Parrock, Sofia Hussain, et al. · Nephron Physiology
Front & Back Matter
2012 · Namhee Kim, Surinder Cheema-Dhadli, et al. · Nephron Physiology
Works count: 21
Citation count: 833
H-index: 10
I10-index: 10
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