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G

Gill Rumsby

University of Turin

40H-index
144Paper Count
4.6KCitation Count
Published Papers 38
Publication Date
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Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway
errWorld Journal of Urology
IF2.9
err2025-11-04
err0
errOAAI
errBhaskar Somani; Esteban Emiliani; Thomas Knoll; Giorgia Mandrile; Gill Rumsby; Cecile Acquaviva; Naeem Bhojani; Saeed Bin Hamri; Ewa Bres-Niewada; Niall F. Davis; Daniel G. Fuster; Sander F. Garrelfs; Vineet Gauhar; Shuzo Hamamoto; Patrick Juliebø-Jones; Marta Leporati; Emmanuel Letavernier; Tatsuya Takayama; Lazaros Tzelves; Steffi Kar Kei Yuen; Pietro Manuel Ferraro
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SMART stone MDT and patient care recommendations: the nephrologist's role in optimizing the adult high-risk kidney stone patient pathway
errNephrology Dialysis Transplantation
IF5.6
err2025-10-01
err0
errOAAI
errFerraro, Pietro Manuel; Emiliani, Esteban; Knoll, Thomas; Mandrile, Giorgia; Rumsby, Gill; Somani, Bhaskar
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errSave
Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1
errJournal of Biological Chemistry
IF3.9
err2025-07-17
err0
errOAAI
errLeonardo Gatticchi; Ilaria Bellezza; Gill Rumsby; Michelle Glover; Barbara Cellini
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errSave
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported
errCLINICAL KIDNEY JOURNAL
IF4.6
err2025-07-01
err0
errOAAI
errMandrile, Giorgia; Rumsby, Gill; Sciannameo, Veronica; Cogal, Andrea G.; Glover, Michelle; Lieske, John C.; Harris, Peter C.
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errSave
A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT
errJournal of Inherited Metabolic Disease
IF3.8
err2025-06-11
err0
errOAAI
errLuana Ruta; Andrea G. Cogal; Gioena Pampalone; David J. Sas; John C. Lieske; Gill Rumsby; Barbara Cellini; Peter C. Harris
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errSave
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope
errNATURE REVIEWS NEPHROLOGY
IF39.8
err2023-01-05
err62
errOAAI
errGroothoff, Jaap W.; Metry, Ella; Deesker, Lisa; Garrelfs, Sander; Acquaviva, Cecile; Almardini, Reham; Beck, Bodo B.; Boyer, Olivia; Cerkauskiene, Rimante; Ferraro, Pietro Manuel; Groen, Luitzen A.; Gupta, Asheeta; Knebelmann, Bertrand; Mandrile, Giorgia; Moochhala, Shabbir S.; Prytula, Agnieszka; Putnik, Jovana; Rumsby, Gill; Soliman, Neveen A.; Somani, Bhaskar; Bacchetta, Justine
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End Points for Clinical Trials in Primary Hyperoxaluria
errCLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF7.1
err2020-03-12
err55
errOAAI
errMilliner, Dawn S.; McGregor, Tracy L.; Thompson, Aliza; Dehmel, Bastian; Knight, John; Rosskamp, Ralf; Blank, Melanie; Yang, Sixun; Fargue, Sonia; Rumsby, Gill; Groothoff, Jaap; Allain, Meaghan; West, Melissa; Hollander, Kim; Lowther, W. Todd; Lieske, John C.
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Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up
errKIDNEY INTERNATIONAL
IF12.6
err2019-12-01
err68
errOAAI
errGarrelfs, Sander F.; Rumsby, Gill; Peters-Sengers, Hessel; Erger, Florian; Groothoff, Jaap W.; Beck, Bodo B.; Oosterveld, Michiel J. S.; Pelle, Alessandra; Neuhaus, Thomas; Adams, Brigitte; Cochat, Pierre; Salido, Eduardo; Lipkin, Graham W.; Hoppe, Bernd; Hulton, Sally-Anne
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errSave
Using Machine Learning to Aid the Interpretation of Urine Steroid Profiles
errCLINICAL CHEMISTRY
IF6.3
err2018-11-01
err38
errOAAI
errWilkes, Edmund H.; Rumsby, Gill; Woodward, Gary M.
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errSave
Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia
errPEDIATRICS
IF6.4
err2017-02-01
err17
errOAAI
errHawton, Katherine; Walton-Betancourth, Sandra; Rumsby, Gill; Raine, Joseph; Dattani, Mehul
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errSave
Genetic defects underlying renal stone disease
errINTERNATIONAL JOURNAL OF SURGERY
IF10.1
err2016-12-01
err16
PREAI
errRumsby, Gill
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errSave
Biochemical composition of urolithiasis from stone dust - a matched-pair analysis
errBJU INTERNATIONAL
IF4.4
err2016-03-21
err8
errOAAI
errRay, Eleanor R.; Rumsby, Gill; Smith, R. Daron
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Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development
errEUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
err2015-06-01
err25
errOAAI
errPhelan, Niamh; Williams, Emma L.; Cardamone, Stefanie; Lee, Marilyn; Creighton, Sarah M.; Rumsby, Gill; Conway, Gerard S.
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errSave
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type
errKIDNEY INTERNATIONAL
IF12.6
err2014-12-01
err99
errOAAI
errMandrile, Giorgia; van Woerden, Christiaan S.; Berchialla, Paola; Beck, Bodo B.; Bourdain, Cecile Acquaviva; Hulton, Sally-Anne; Rumsby, Gill
errShare
errSave
Case 205: Renal Stone lleus
errRADIOLOGY
IF15.2
err2014-05-01
err0
PREAI
errMacDonald, Lois S.; Rumsby, Gill; Lapsia, Snehal
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errSave
Primary Hyperoxaluria
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2013-08-15
err414
PREAI
errCochat, Pierre; Rumsby, Gill
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Four of the Most Common Mutations in Primary Hyperoxaluria Type 1 Unmask the Cryptic Mitochondrial Targeting Sequence of Alanine:glyoxylate Aminotransferase Encoded by the Polymorphic Minor Allele
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2013-01-01
err81
errOAAI
errFargue, Sonia; Lewin, Jackie; Rumsby, Gill; Danpure, Christopher J.
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The nature of cardiac calcification in aortic stenosis
errINTERNATIONAL JOURNAL OF CARDIOLOGY
IF3.2
err2012-07-01
err8
PREAI
errHolmgren, Anders; Rumsby, Gill; Gustafsson, Sandra; Naslund, Ulf; Henein, Michael Y.
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Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic
errEUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
err2011-06-01
err43
errOAAI
errBerra, Marta; Williams, Emma L.; Muroni, Barbara; Creighton, Sarah M.; Honour, John W.; Rumsby, Gill; Conway, Gerard S.
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Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2010-02-01
err75
errOAAI
errParajes, Silvia; Loidi, Lourdes; Reisch, Nicole; Dhir, Vivek; Rose, Ian T.; Hampel, Rainer; Quinkler, Marcus; Conway, Gerard S.; Castro-Feijoo, Lidia; Araujo-Vilar, David; Pombo, Manuel; Dominguez, Fernando; Williams, Emma L.; Cole, Trevor R.; Kirk, Jeremy M.; Kaminsky, Elke; Rumsby, Gill; Arlt, Wiebke; Krone, Nils
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Research Directions

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Co-authors
Cooperation Journals
R
Ronald J. A. Wanders
H-index: 124 · Papers: 1.1K
W
Wiebke Arlt
H-index: 107 · Papers: 965
P
Peter C. Harris
H-index: 105 · Papers: 615
H
Hans R. Waterham
H-index: 83 · Papers: 386
J
John C. Lieske
H-index: 82 · Papers: 599
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