Detlef Bockenhauer

Affiliations

University College London, Great Ormond Street Hospital, Institute of Child Health, London, UK.

ORCID: http://orcid.org/0000-0001-5878-941X

Publications (81)

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.

Nature reviews. Nephrology

Avec: Charlotte Gimpel , Carsten Bergmann , Detlef Bockenhauer , Luc Breysem , Melissa A Cadnapaphornchai , Metin Cetiner , Jan Dudley , Francesco Emma , Martin Konrad , Tess Harris , Peter C Harris , Jens König , Max C Liebau , Matko Marlais , Djalila Mekahli , Alison M Metcalfe , Jun Oh , Ronald D Perrone , Manish D Sinha , Andrea Titieni , Roser Torra , Stefanie Weber , Paul J D Winyard , Franz Schaefer

Plasma electrolyte imbalance in pediatric kidney transplant recipients.

Pediatric transplantation

Avec: Wesley Hayes , Catherine Longley , Nicola Scanlon , William Bryant , Jelena Stojanovic , Nicos Kessaris , William Van't Hoff , Detlef Bockenhauer , Stephen D Marks

Erratum: Long-term outcome in inherited nephrogenic diabetes insipidus.

Clinical kidney journal

Avec: Sonia Sharma , Emma Ashton , Daniela Iancu , Marie-Francoise Arthus , Wesley Hayes , William Van't Hoff , Robert Kleta , Daniel G Bichet , Detlef Bockenhauer

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Journal of the American Society of Nephrology : JASN

Avec: Daan Viering , Karl P Schlingmann , Marguerite Hureaux , Tom Nijenhuis , Andrew Mallett , Melanie M Y Chan , André van Beek , Albertien M van Eerde , Jean-Marie Coulibaly , Marion Vallet , Stéphane Decramer , Solenne Pelletier , Günter Klaus , Martin Kömhoff , Rolf Beetz , Chirag Patel , Mohan Shenoy , Eric J Steenbergen , Glenn Anderson , Ernie M H F Bongers , Carsten Bergmann , Daan Panneman , Richard J Rodenburg , Robert Kleta , Pascal Houillier , Martin Konrad , Rosa Vargas-Poussou , Nine V A M Knoers , Detlef Bockenhauer , Jeroen H F de Baaij , Auteur inconnu

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.

Journal of the American Society of Nephrology : JASN

Avec: Karl P Schlingmann , Aparna Renigunta , Ewout J Hoorn , Anna-Lena Forst , Vijay Renigunta , Velko Atanasov , Sinthura Mahendran , Tahsin Stefan Barakat , Valentine Gillion , Nathalie Godefroid , Alice S Brooks , Dorien Lugtenberg , Jennifer Lake , Huguette Debaix , Christoph Rudin , Bertrand Knebelmann , Stephanie Tellier , Caroline Rousset-Rouvière , Daan Viering , Jeroen H F de Baaij , Stefanie Weber , Oleg Palygin , Alexander Staruschenko , Robert Kleta , Pascal Houillier , Detlef Bockenhauer , Olivier Devuyst , Rosa Vargas-Poussou , Richard Warth , Anselm A Zdebik , Martin Konrad

Treatment and long-term outcome in primary nephrogenic diabetes insipidus.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Avec: Sergio C Lopez-Garcia , Mallory L Downie , Ji Soo Kim , Olivia Boyer , Stephen B Walsh , Tom Nijenhuis , Svetlana Papizh , Pallavi Yadav , Ben C Reynolds , Stéphane Decramer , Martine Besouw , Manel Perelló Carrascosa , Claudio La Scola , Francesco Trepiccione , Gema Ariceta , Aurélie Hummel , Claire Dossier , John A Sayer , Martin Konrad , Mandy G Keijzer-Veen , Atif Awan , Biswanath Basu , Dominique Chauveau , Leire Madariaga , Linda Koster-Kamphuis , Mónica Furlano , Miriam Zacchia , Pierluigi Marzuillo , Yincent Tse , Ismail Dursun , Ayse Seda Pinarbasi , Despoina Tramma , Ewout J Hoorn , Ibrahim Gokce , Kathleen Nicholls , Loai A Eid , Lisa Sartz , Michael Riordan , Nakysa Hooman , Nikoleta Printza , Olivier Bonny , Pedro Arango Sancho , Raphael Schild , Rajiv Sinha , Stefano Guarino , Victor Martinez Jimenez , Lidia Rodríguez Peña , Hendrica Belge , Olivier Devuyst , Tanja Wlodkowski , Francesco Emma , Elena Levtchenko , Nine V A M Knoers , Daniel G Bichet , Franz Schaefer , Robert Kleta , Auteur inconnu , Detlef Bockenhauer

An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

Kidney international

Avec: Francesco Emma , William Van't Hoff , Katharina Hohenfellner , Rezan Topaloglu , Marcella Greco , Gema Ariceta , Chiara Bettini , Detlef Bockenhauer , Koenraad Veys , Lars Pape , Sally Hulton , Suzanne Collin , Fatih Ozaltin , Aude Servais , Georges Deschênes , Robert Novo , Aurélia Bertholet-Thomas , Jun Oh , Elisabeth Cornelissen , Mirian Janssen , Dieter Haffner , Lucilla Ravà , Corinne Antignac , Olivier Devuyst , Patrick Niaudet , Elena Levtchenko

Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCT.

Health technology assessment (Winchester, England)

Avec: Martin T Christian , Nicholas Ja Webb , Rebecca L Woolley , Nafsika Afentou , Samir Mehta , Emma Frew , Elizabeth A Brettell , Adam R Khan , David V Milford , Detlef Bockenhauer , Moin A Saleem , Angela S Hall , Ania Koziell , Heather Maxwell , Shivaram Hegde , Eric R Finlay , Rodney D Gilbert , Caroline Jones , Karl McKeever , Wendy Cook , Natalie Ives

Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.

Pediatric nephrology (Berlin, Germany)

Avec: Maria Pia Falcone , Kathryn Pritchard-Jones , Jesper Brok , William Mifsud , Richard D Williams , Kayo Nakata , Suzanne Tugnait , Reem Al-Saadi , Lucy Side , John Anderson , Catriona Duncan , Stephen D Marks , Detlef Bockenhauer , Tanzina Chowdhury

Child and caregiver perspectives on access to psychosocial and educational support in pediatric chronic kidney disease: a focus group study.

Pediatric nephrology (Berlin, Germany)

Avec: Yifan Zhang , Talia Gutman , Allison Tong , Jonathan C Craig , Aditi Sinha , Allison Dart , Allison A Eddy , Debbie S Gipson , Detlef Bockenhauer , Hui-Kim Yap , Jaap Groothoff , Michael Zappitelli , Nicholas J A Webb , Stephen I Alexander , Susan Furth , Susan Samuel , Tom D Blydt-Hansen , Janis Dionne , Mini Michael , Scott E Wenderfer , Wolfgang C Winkelmayer , Steven McTaggart , Amanda Walker , Cortney T Zimmerman , Angelique F Ralph , Angela Ju , Laura J James , Camilla S Hanson

Two Brothers from Macedonia with Gitelman Syndrome.

Balkan journal of medical genetics : BJMG

Avec: A Janchevska , V Tasic , O Jordanova , Z Gucev , L Jenkins , N Jovanovska , D Plaseska-Karanfilska , E Ashton , D Bockenhauer

Challenges in using fractional excretion of sodium in the assessment of salt poisoning.

Acta paediatrica (Oslo, Norway : 1992)

Avec: Savitha Shenoy , Detlef Bockenhauer

Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing.

The Journal of clinical investigation

Avec: Omid Sadeghi-Alavijeh , Melanie My Chan , Gabriel T Doctor , Catalin D Voinescu , Alexander Stuckey , Athanasios Kousathanas , Alexander T Ho , Horia C Stanescu , Detlef Bockenhauer , Richard N Sandford , Adam P Levine , Daniel P Gale

Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference.

Kidney international

Avec: Andrew S Levey , Kai-Uwe Eckardt , Nijsje M Dorman , Stacy L Christiansen , Ewout J Hoorn , Julie R Ingelfinger , Lesley A Inker , Adeera Levin , Rajnish Mehrotra , Paul M Palevsky , Mark A Perazella , Allison Tong , Susan J Allison , Detlef Bockenhauer , Josephine P Briggs , Jonathan S Bromberg , Andrew Davenport , Harold I Feldman , Denis Fouque , Ron T Gansevoort , John S Gill , Eddie L Greene , Brenda R Hemmelgarn , Matthias Kretzler , Mark Lambie , Pascale H Lane , Joseph Laycock , Shari E Leventhal , Michael Mittelman , Patricia Morrissey , Marlies Ostermann , Lesley Rees , Pierre Ronco , Franz Schaefer , Jennifer St Clair Russell , Caroline Vinck , Stephen B Walsh , Daniel E Weiner , Michael Cheung , Michel Jadoul , Wolfgang C Winkelmayer

Mitochondrial DNA mutations in renal disease: an overview.

Pediatric nephrology (Berlin, Germany)

Avec: Larissa P Govers , Hakan R Toka , Ali Hariri , Stephen B Walsh , Detlef Bockenhauer

Bartter and Gitelman syndromes: Questions of class.

Pediatric nephrology (Berlin, Germany)

Avec: Martine T P Besouw , Robert Kleta , Detlef Bockenhauer

Long-term outcome in inherited nephrogenic diabetes insipidus.

Clinical kidney journal

Avec: Sonia Sharma , Emma Ashton , Daniela Iancu , Marie-Francoise Arthus , Wesley Hayes , William Van't Hoff , Robert Kleta , Daniel G Bichet , Detlef Bockenhauer

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.

Kidney international reports

Avec: Shazia Adalat , Wesley N Hayes , William A Bryant , John Booth , Adrian S Woolf , Robert Kleta , Sandra Subtil , Rhian Clissold , Kevin Colclough , Sian Ellard , Detlef Bockenhauer

Zebrafish as a model for kidney function and disease.

Pediatric nephrology (Berlin, Germany)

Avec: Priya Outtandy , Claire Russell , Robert Kleta , Detlef Bockenhauer

Identifying Important Outcomes for Young People With CKD and Their Caregivers: A Nominal Group Technique Study.

American journal of kidney diseases : the official journal of the National Kidney Foundation

Avec: Camilla S Hanson , Talia Gutman , Jonathan C Craig , Sarah Bernays , Gayathri Raman , Yifan Zhang , Laura J James , Angelique F Ralph , Angela Ju , Karine E Manera , Armando Teixeira-Pinto , Andrea K Viecelli , Stephen I Alexander , Tom D Blydt-Hansen , Janis Dionne , Steven McTaggart , Mini Michael , Amanda Walker , Simon Carter , Scott E Wenderfer , Wolfgang C Winkelmayer , Detlef Bockenhauer , Allison Dart , Allison A Eddy , Susan L Furth , Debbie S Gipson , Stuart L Goldstein , Jaap Groothoff , Susan Samuel , Aditi Sinha , Nicholas J A Webb , Hui-Kim Yap , Michael Zappitelli , Helen Currier , Allison Tong

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

Molecular genetics & genomic medicine

Avec: Sumaya Islam , Mehmet Tekman , Sarah E Flanagan , Lisa Guay-Woodford , Khalid Hussain , Sian Ellard , Robert Kleta , Detlef Bockenhauer , Horia Stanescu , Daniela Iancu

Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.

Kidney international

Avec: Martin Konrad , Tom Nijenhuis , Gema Ariceta , Aurelia Bertholet-Thomas , Lorenzo A Calo , Giovambattista Capasso , Francesco Emma , Karl P Schlingmann , Mandeep Singh , Francesco Trepiccione , Stephen B Walsh , Kirsty Whitton , Rosa Vargas-Poussou , Detlef Bockenhauer

Genetics of renovascular hypertension in children.

Journal of hypertension

Avec: Daan H H M Viering , Melanie M Y Chan , Lieke Hoogenboom , Daniela Iancu , Jeroen H F de Baaij , Kjell Tullus , Robert Kleta , Detlef Bockenhauer

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

Kidney international reports

Avec: Mallory L Downie , Sanjana Gupta , Mehmet C Tekman , Chris Cheshire , Steven Arora , Christoph Licht , Lisa A Robinson , Marina Munoz , Alvaro Madrid Aris , Ibrahim Al Attrach , Paul E Brenchley , Daniel P Gale , Horia Stanescu , Detlef Bockenhauer , Robert Kleta

Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling.

Pediatric nephrology (Berlin, Germany)

Avec: Detlef Bockenhauer , Robert Kleta

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

Pediatric nephrology (Berlin, Germany)

Avec: Mallory L Downie , Sanjana Gupta , Melanie M Y Chan , Omid Sadeghi-Alavijeh , Jingjing Cao , Rulan S Parekh , Carmen Bugarin Diz , Agnieszka Bierzynska , Adam P Levine , Ruth J Pepper , Horia Stanescu , Moin A Saleem , Robert Kleta , Detlef Bockenhauer , Ania B Koziell , Daniel P Gale

Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review.

Best practice & research. Clinical endocrinology & metabolism

Avec: Emma Walker , Wesley Hayes , Detlef Bockenhauer

Renal and Extrarenal Phenotypes in Patients With

Kidney international reports

Avec: Bénédicte Buffin-Meyer , Juliette Richard , Vincent Guigonis , Stefanie Weber , Jens König , Laurence Heidet , Nabila Moussaoui , Jeanne-Pierrette Vu , Stanislas Faguer , Audrey Casemayou , Richa Prakash , Véronique Baudouin , Julien Hogan , Demi Alexandrou , Detlef Bockenhauer , Justine Bacchetta , Bruno Ranchin , Stepanka Pruhova , Jakub Zieg , Annie Lahoche , Christine Okorn , Violetta Antal-Kónya , Denis Morin , Francesca Becherucci , Sandra Habbig , Max C Liebau , Mathilde Mauras , Tom Nijenhuis , Brigitte Llanas , Djalila Mekahli , Julia Thumfart , Burkhard Tönshoff , Laura Massella , Philippe Eckart , Sylvie Cloarec , Alejandro Cruz , Ludwig Patzer , Gwenaelle Roussey , Isabelle Vrillon , Olivier Dunand , Lucie Bessenay , Francesca Taroni , Marcin Zaniew , Ferielle Louillet , Carsten Bergmann , Franz Schaefer , Albertien M van Eerde , Joost P Schanstra , Stéphane Decramer , Auteur inconnu

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis.

Children (Basel, Switzerland)

Avec: Cristina Bertulli , Marguerite Hureaux , Chiara De Mutiis , Andrea Pasini , Detlef Bockenhauer , Rosa Vargas-Poussou , Claudio La Scola

Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood.

Pediatric nephrology (Berlin, Germany)

Avec: Stephanie Dufek-Kamperis , Robert Kleta , Detlef Bockenhauer , Daniel Gale , Mallory L Downie

Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial.

European journal of pediatrics

Avec: Franz Schaefer , Djalila Mekahli , Francesco Emma , Rodney D Gilbert , Detlef Bockenhauer , Melissa A Cadnapaphornchai , Lily Shi , Ann Dandurand , Kimberly Sikes , Susan E Shoaf

Inherited Tubulopathies of the Kidney: Insights from Genetics.

Clinical journal of the American Society of Nephrology : CJASN

Avec: Mallory L Downie , Sergio C Lopez Garcia , Robert Kleta , Detlef Bockenhauer

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

Nature communications

Avec: Jingyuan Xie , Lili Liu , Nikol Mladkova , Yifu Li , Hong Ren , Weiming Wang , Zhao Cui , Li Lin , Xiaofan Hu , Xialian Yu , Jing Xu , Gang Liu , Yasar Caliskan , Carlo Sidore , Olivia Balderes , Raphael J Rosen , Monica Bodria , Francesca Zanoni , Jun Y Zhang , Priya Krithivasan , Karla Mehl , Maddalena Marasa , Atlas Khan , Fatih Ozay , Pietro A Canetta , Andrew S Bomback , Gerald B Appel , Simone Sanna-Cherchi , Matthew G Sampson , Laura H Mariani , Agnieszka Perkowska-Ptasinska , Magdalena Durlik , Krzysztof Mucha , Barbara Moszczuk , Bartosz Foroncewicz , Leszek Pączek , Ireneusz Habura , Elisabet Ars , Jose Ballarin , Laila-Yasmin Mani , Bruno Vogt , Savas Ozturk , Abdülmecit Yildiz , Nurhan Seyahi , Hakki Arikan , Mehmet Koc , Taner Basturk , Gonca Karahan , Sebahat Usta Akgul , Mehmet Sukru Sever , Dan Zhang , Domenico Santoro , Mario Bonomini , Francesco Londrino , Loreto Gesualdo , Jana Reiterova , Vladimir Tesar , Claudia Izzi , Silvana Savoldi , Donatella Spotti , Carmelita Marcantoni , Piergiorgio Messa , Marco Galliani , Dario Roccatello , Simona Granata , Gianluigi Zaza , Francesca Lugani , GianMarco Ghiggeri , Isabella Pisani , Landino Allegri , Ben Sprangers , Jin-Ho Park , BeLong Cho , Yon Su Kim , Dong Ki Kim , Hitoshi Suzuki , Antonio Amoroso , Daniel C Cattran , Fernando C Fervenza , Antonello Pani , Patrick Hamilton , Shelly Harris , Sanjana Gupta , Chris Cheshire , Stephanie Dufek , Naomi Issler , Ruth J Pepper , John Connolly , Stephen Powis , Detlef Bockenhauer , Horia C Stanescu , Neil Ashman , Ruth J F Loos , Eimear E Kenny , Matthias Wuttke , Kai-Uwe Eckardt , Anna Köttgen , Julia M Hofstra , Marieke J H Coenen , Lambertus A Kiemeney , Shreeram Akilesh , Matthias Kretzler , Lawrence H Beck , Benedicte Stengel , Hanna Debiec , Pierre Ronco , Jack F M Wetzels , Magdalena Zoledziewska , Francesco Cucca , Iuliana Ionita-Laza , Hajeong Lee , Elion Hoxha , Rolf A K Stahl , Paul Brenchley , Francesco Scolari , Ming-Hui Zhao , Ali G Gharavi , Robert Kleta , Nan Chen , Krzysztof Kiryluk

Pseudouridylation defect due to

Proceedings of the National Academy of Sciences of the United States of America

Avec: Eszter Balogh , Jennifer C Chandler , Máté Varga , Mona Tahoun , Dóra K Menyhárd , Gusztáv Schay , Tomas Goncalves , Renáta Hamar , Regina Légrádi , Ákos Szekeres , Olivier Gribouval , Robert Kleta , Horia Stanescu , Detlef Bockenhauer , Andrea Kerti , Hywel Williams , Veronica Kinsler , Wei-Li Di , David Curtis , Maria Kolatsi-Joannou , Hafsa Hammid , Anna Szőcs , Kristóf Perczel , Erika Maka , Gergely Toldi , Florentina Sava , Christelle Arrondel , Magdolna Kardos , Attila Fintha , Ahmed Hossain , Felipe D'Arco , Mario Kaliakatsos , Jutta Koeglmeier , William Mifsud , Mariya Moosajee , Ana Faro , Eszter Jávorszky , Gábor Rudas , Marwa H Saied , Salah Marzouk , Kata Kelen , Judit Götze , George Reusz , Tivadar Tulassay , François Dragon , Géraldine Mollet , Susanne Motameny , Holger Thiele , Guillaume Dorval , Peter Nürnberg , András Perczel , Attila J Szabó , David A Long , Kazunori Tomita , Corinne Antignac , Aoife M Waters , Kálmán Tory

Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.

Hormone research in paediatrics

Avec: Dinesh Giri , Detlef Bockenhauer , Charu Deshpande , John C Achermann , Norman F Taylor , Gill Rumsby , Henry Morgan , Senthil Senniappan , Michal Ajzensztejn

Diagnosis of uncertain significance: can next-generation sequencing replace the clinician?

Kidney international

Avec: Emma Ashton , Detlef Bockenhauer

Economic Evaluation of Using Daily Prednisolone versus Placebo at the Time of an Upper Respiratory Tract Infection for the Management of Children with Steroid-Sensitive Nephrotic Syndrome: A Model-Based Analysis.

PharmacoEconomics - open

Avec: Nafsika Afentou , Emma Frew , Samir Mehta , Natalie J Ives , Rebecca L Woolley , Elizabeth A Brettell , Adam R Khan , David V Milford , Detlef Bockenhauer , Moin A Saleem , Angela S Hall , Ania Koziell , Heather Maxwell , Shivaram Hegde , Eric Finlay , Rodney D Gilbert , Caroline Jones , Karl McKeever , Wendy Cook , Nicholas J A Webb , Martin T Christian , Auteur inconnu

Patient, Parental, and Health Professional Perspectives on Growth in Children With CKD.

American journal of kidney diseases : the official journal of the National Kidney Foundation

Avec: Justin G Wu , Chandana Guha , Anastasia Hughes , Luca G Torrisi , Jonathan C Craig , Aditi Sinha , Allison Dart , Allison A Eddy , Detlef Bockenhauer , Hui-Kim Yap , Jaap Groothoff , Stephen I Alexander , Susan L Furth , Susan Samuel , Simon A Carter , Amanda Walker , Joshua Kausman , Allison Jaure

Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2.

Pediatric nephrology (Berlin, Germany)

Avec: Marcelien Verjans , An Hindryckx , Karen Rosier , Koen Devriendt , Djalila Mekahli , Detlef Bockenhauer

Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Avec: Maartje F A Verploegen , Rosa Vargas-Poussou , Stephen B Walsh , Harika Alpay , Atefeh Amouzegar , Gema Ariceta , Bahriye Atmis , Justine Bacchetta , Peter Bárány , Stéphanie Baron , Umut Selda Bayrakci , Hendrica Belge , Martine Besouw , Anne Blanchard , Arend Bökenkamp , Olivia Boyer , Kathrin Burgmaier , Lorenzo A Calò , Stéphane Decramer , Olivier Devuyst , Maria van Dyck , Pietro Manuel Ferraro , Marc Fila , Telma Francisco , Gian Marco Ghiggeri , Leire Gondra , Stefano Guarino , Nakysa Hooman , Ewout J Hoorn , Pascal Houillier , Konstantinos Kamperis , Jameela A Kari , Martin Konrad , Elena Levtchenko , Laura Lucchetti , Francesca Lugani , Pierluigi Marzuillo , Barian Mohidin , Thomas J Neuhaus , Abdaldafae Osman , Svetlana Papizh , Manel Perelló , Maarten B Rookmaaker , Valerie Said Conti , Fernando Santos , Ghalia Sawaf , Erkin Serdaroglu , Maria Szczepanska , Francesca Taroni , Rezan Topaloglu , Francesco Trepiccione , Enrico Vidal , Elizabeth R Wan , Lutz Weber , Zeynep Yuruk Yildirim , Selçuk Yüksel , Galia Zlatanova , Detlef Bockenhauer , Francesco Emma , Tom Nijenhuis

Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels.

Archives of disease in childhood

Avec: Emma Yi Xiu Walker , Timothy Alexander James Lindsay , Jeremy Allgrove , Matko Marlais , Detlef Bockenhauer , Wesley Hayes

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Kidney international reports

Avec: Elizabeth R Wan , Daniela Iancu , Emma Ashton , Keith Siew , Barian Mohidin , Chih-Chien Sung , China Nagano , Detlef Bockenhauer , Shih-Hua Lin , Kandai Nozu , Stephen B Walsh

Common Risk Variants in

Kidney international reports

Avec: Mallory L Downie , Sanjana Gupta , Catalin Voinescu , Adam P Levine , Omid Sadeghi-Alavijeh , Stephanie Dufek-Kamperis , Jingjing Cao , Martin Christian , Jameela A Kari , Shenal Thalgahagoda , Randula Ranawaka , Asiri Abeyagunawardena , Rasheed Gbadegesin , Rulan Parekh , Robert Kleta , Detlef Bockenhauer , Horia C Stanescu , Daniel P Gale

Syndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptan.

Journal of pediatric endocrinology & metabolism : JPEM

Avec: Rebecca Jane Moon , Maisara Soliman , Lieke Hoogenboom , Rodney D Gilbert , Georgina Bird-Lieberman , Jaspal Singh , Detlef Bockenhauer , Anitha Kumaran

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.

European journal of human genetics : EJHG

Avec: Beata Stefania Lipska-Ziętkiewicz , Fatih Ozaltin , Tuula Hölttä , Detlef Bockenhauer , Sandra Bérody , Elena Levtchenko , Marina Vivarelli , Hazel Webb , Dieter Haffner , Franz Schaefer , Olivia Boyer

Developing Consensus-Based Outcome Domains for Trials in Children and Adolescents With CKD: An International Delphi Survey.

American journal of kidney diseases : the official journal of the National Kidney Foundation

Avec: Charlotte Logeman , Chandana Guha , Martin Howell , Camilla S Hanson , Jonathan C Craig , Susan Samuel , Michael Zappitelli , Mina Matsuda-Abedini , Allison Dart , Susan Furth , Allison Eddy , Jaap Groothoff , Hui-Kim Yap , Detlef Bockenhauer , Aditi Sinha , Stephen I Alexander , Stuart L Goldstein , Debbie S Gipson , Mini Michael , Amanda Walker , Joshua Kausman , Segolene Gaillard , Justine Bacchetta , Michelle N Rheault , Bradley A Warady , Alicia Neu , Martin Christian , Steven McTaggart , Isaac Liu , Sharon Teo , Benedicte Sautenet , Talia Gutman , Simon Carter , Armando Teixeira-Pinto , Allison Tong

Establishing core outcome domains in pediatric kidney disease: report of the Standardized Outcomes in Nephrology-Children and Adolescents (SONG-KIDS) consensus workshops.

Kidney international

Avec: Camilla S Hanson , Jonathan C Craig , Charlotte Logeman , Aditi Sinha , Allison Dart , Allison A Eddy , Chandana Guha , Debbie S Gipson , Detlef Bockenhauer , Hui-Kim Yap , Jaap Groothoff , Michael Zappitelli , Nicholas J A Webb , Stephen I Alexander , Susan L Furth , Susan Samuel , Alicia Neu , Andrea K Viecelli , Angela Ju , Ankit Sharma , Eric H Au , Hailey Desmond , Jenny I Shen , Karine E Manera , Karolis Azukaitis , Louese Dunn , Simon A Carter , Talia Gutman , Yeoungjee Cho , Amanda Walker , Anna Francis , Cheryl Sanchez-Kazi , Joshua Kausman , Meghan Pearl , Nadine Benador , Shobha Sahney , Allison Tong , Auteur inconnu

ADPedKD: A Global Online Platform on the Management of Children With ADPKD.

Kidney international reports

Avec: Stéphanie De Rechter , Detlef Bockenhauer , Lisa M Guay-Woodford , Isaac Liu , Andrew J Mallett , Neveen A Soliman , Lucimary C Sylvestre , Franz Schaefer , Max C Liebau , Djalila Mekahli , Auteur inconnu

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

Journal of the American Society of Nephrology : JASN

Avec: Stephanie Dufek , Chris Cheshire , Adam P Levine , Richard S Trompeter , Naomi Issler , Matthew Stubbs , Monika Mozere , Sanjana Gupta , Enriko Klootwijk , Vaksha Patel , Daljit Hothi , Aoife Waters , Hazel Webb , Kjell Tullus , Lucy Jenkins , Lighta Godinho , Elena Levtchenko , Jack Wetzels , Nine Knoers , Nynke Teeninga , Jeroen Nauta , Mohamed Shalaby , Sherif Eldesoky , Jameela A Kari , Shenal Thalgahagoda , Randula Ranawaka , Asiri Abeyagunawardena , Adebowale Adeyemo , Mark Kristiansen , Rasheed Gbadegesin , Nicholas J Webb , Daniel P Gale , Horia C Stanescu , Robert Kleta , Detlef Bockenhauer

Treatment and long-term outcome in primary distal renal tubular acidosis.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Avec: Sergio Camilo Lopez-Garcia , Francesco Emma , Stephen B Walsh , Marc Fila , Nakysa Hooman , Marcin Zaniew , Aurélia Bertholet-Thomas , Giacomo Colussi , Kathrin Burgmaier , Elena Levtchenko , Jyoti Sharma , Jyoti Singhal , Neveen A Soliman , Gema Ariceta , Biswanath Basu , Luisa Murer , Velibor Tasic , Alexey Tsygin , Stéphane Decramer , Helena Gil-Peña , Linda Koster-Kamphuis , Claudio La Scola , Jutta Gellermann , Martin Konrad , Marc Lilien , Telma Francisco , Despoina Tramma , Peter Trnka , Selçuk Yüksel , Maria Rosa Caruso , Milan Chromek , Zelal Ekinci , Giovanni Gambaro , Jameela A Kari , Jens König , Francesca Taroni , Julia Thumfart , Francesco Trepiccione , Louise Winding , Elke Wühl , Ayşe Ağbaş , Anna Belkevich , Rosa Vargas-Poussou , Anne Blanchard , Giovanni Conti , Olivia Boyer , Ismail Dursun , Ayşe Seda Pınarbaşı , Engin Melek , Marius Miglinas , Robert Novo , Andrew Mallett , Danko Milosevic , Maria Szczepanska , Sarah Wente , Hae Il Cheong , Rajiv Sinha , Zoran Gucev , Stephanie Dufek , Daniela Iancu , Auteur inconnu , Robert Kleta , Franz Schaefer , Detlef Bockenhauer

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.

Kidney international

Avec: Marguerite Hureaux , Emma Ashton , Karin Dahan , Pascal Houillier , Anne Blanchard , Catherine Cormier , Eugenie Koumakis , Daniela Iancu , Hendrica Belge , Pascale Hilbert , Annelies Rotthier , Jurgen Del Favero , Franz Schaefer , Robert Kleta , Detlef Bockenhauer , Xavier Jeunemaitre , Olivier Devuyst , Stephen B Walsh , Rosa Vargas-Poussou

Patient and caregiver perspectives on blood pressure in children with chronic kidney disease.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Avec: Justin Guang-Ao Wu , Allison Tong , Nicole Evangelidis , Karine E Manera , Camilla S Hanson , Amanda Baumgart , Noa Amir , Aditi Sinha , Allison Dart , Allison A Eddy , Chandana Guha , Debbie S Gipson , Detlef Bockenhauer , Hui-Kim Yap , Jaap Groothoff , Michael Zappitelli , Stephen I Alexander , Susan L Furth , Susan Samuel , Simon A Carter , Amanda Walker , Joshua Kausman , David Martinez-Martin , Talia Gutman , Jonathan C Craig

Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.

Pediatric nephrology (Berlin, Germany)

Avec: Rajiv Sinha , Subal Pradhan , Sushmita Banerjee , Afsana Jahan , Shakil Akhtar , Amitava Pahari , Sumantra Raut , Prince Parakh , Surupa Basu , Priyanka Srivastava , Snehamayee Nayak , S G Thenral , V Ramprasad , Emma Ashton , Detlef Bockenhauer , Kausik Mandal

Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.

Nature reviews. Nephrology

Avec: Olivia Boyer , Franz Schaefer , Dieter Haffner , Detlef Bockenhauer , Tuula Hölttä , Sandra Bérody , Hazel Webb , Marie Heselden , Beata S Lipska-Zie Tkiewicz , Fatih Ozaltin , Elena Levtchenko , Marina Vivarelli

Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Avec: Francesco Trepiccione , Steven B Walsh , Gema Ariceta , Olivia Boyer , Francesco Emma , Roberta Camilla , Pietro Manuel Ferraro , Dieter Haffner , Martin Konrad , Elena Levtchenko , Sergio Camilo Lopez-Garcia , Fernando Santos , Stella Stabouli , Maria Szczepanska , Velibor Tasic , Rezan Topaloglu , Rosa Vargas-Poussou , Tanja Wlodkowski , Detlef Bockenhauer

Avec: Carla Burballa , Gerard Cantero-Recasens , Larisa Prikhodina , Francesca Lugani , Karlpeter Schlingmann , Petr V Ananin , Martine Besouw , Detlef Bockenhauer , Leire Madariaga , Aurelia Bertholet-Thomas , Francesca Taroni , Mattia Parolin , Peter Conlon , Francesco Emma , Dorella Del Prete , Dominique Chauveau , Linda Koster-Kamphuis , Marc Fila , Andrea Pasini , Isabel Castro , Giacomo Colussi , Marta Gil , Barian Mohidin , Tanja Wlodkowski , Franz Schaefer , Gema Ariceta , Auteur inconnu

Shockwaves and the Rolling Stones: An Overview of Pediatric Stone Disease.

Kidney international reports

Avec: Naima Smeulders , Alexander Cho , Abdulelah Alshaiban , Katharine Read , Aisling Fagan , Marina Easty , Kishore Minhas , Alex Barnacle , Wesley Hayes , Detlef Bockenhauer

Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.

Lancet (London, England)

Avec: Katie Wong , David Pitcher , Fiona Braddon , Lewis Downward , Retha Steenkamp , Nicholas Annear , Jonathan Barratt , Coralie Bingham , Constantina Chrysochou , Richard J Coward , David Game , Sian Griffin , Matt Hall , Sally Johnson , Durga Kanigicherla , Fiona Karet Frankl , David Kavanagh , Larissa Kerecuk , Eamonn R Maher , Shabbir Moochhala , Jenny Pinney , John A Sayer , Roslyn Simms , Smeeta Sinha , Shalabh Srivastava , Frederick W K Tam , Andrew Neil Turner , Stephen B Walsh , Aoife Waters , Patricia Wilson , Edwin Wong , Christopher Mark Taylor , Dorothea Nitsch , Moin Saleem , Detlef Bockenhauer , Kate Bramham , Daniel P Gale , Auteur inconnu

A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy.

Kidney international

Avec: Catalin D Voinescu , Monika Mozere , Giulio Genovese , Mallory L Downie , Sanjana Gupta , Daniel P Gale , Detlef Bockenhauer , Robert Kleta , Mauricio Arcos-Burgos , Horia C Stanescu

Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort.

Kidney international reports

Avec: Katie Wong , David Pitcher , Fiona Braddon , Lewis Downward , Retha Steenkamp , Sherry Masoud , Nicholas Annear , Jonathan Barratt , Coralie Bingham , Richard J Coward , Tina Chrysochou , David Game , Sian Griffin , Matt Hall , Sally Johnson , Durga Kanigicherla , Fiona Karet Frankl , David Kavanagh , Larissa Kerecuk , Eamonn R Maher , Shabbir Moochhala , Jenny Pinney , John A Sayer , Roslyn Simms , Smeeta Sinha , Shalabh Srivastava , Frederick W K Tam , Kay Thomas , A Neil Turner , Stephen B Walsh , Aoife Waters , Patricia Wilson , Edwin Wong , Karla Therese L Sy , Kui Huang , Jamie Ye , Dorothea Nitsch , Moin Saleem , Detlef Bockenhauer , Kate Bramham , Daniel P Gale , Auteur inconnu

Avec: Stephanie Dufek , Tuula Holtta , Agnes Trautmann , Elisa Ylinen , Harika Alpay , Gema Ariceta , Christoph Aufricht , Justine Bacchetta , Sevcan A Bakkaloglu , Aysun Bayazit , Rumeysa Yasemin Cicek , Ismail Dursun , Ali Duzova , Mesiha Ekim , Daniela Iancu , Augustina Jankauskiene , Günter Klaus , Fabio Paglialonga , Andrea Pasini , Nikoleta Printza , Valerie Said Conti , Maria do Sameiro Faria , Claus Peter Schmitt , Constantinos J Stefanidis , Enrico Verrina , Enrico Vidal , Karel Vondrak , Hazel Webb , Argyroula Zampetoglou , Detlef Bockenhauer , Alberto Edefonti , Rukshana Shroff

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

The Journal of clinical endocrinology and metabolism

Avec: Heike Biebermann , Gunnar Kleinau , Dirk Schnabel , Detlef Bockenhauer , Louise C Wilson , Ian Tully , Sarah Kiff , Patrick Scheerer , Monica Reyes , Sarah Paisdzior , John W Gregory , Jeremy Allgrove , Heiko Krude , Michael Mannstadt , Thomas J Gardella , Mehul Dattani , Harald Jüppner , Annette Grüters

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Nature reviews. Nephrology

Avec: Dieter Haffner , Francesco Emma , Deborah M Eastwood , Martin Biosse Duplan , Justine Bacchetta , Dirk Schnabel , Philippe Wicart , Detlef Bockenhauer , Fernando Santos , Elena Levtchenko , Pol Harvengt , Martha Kirchhoff , Federico Di Rocco , Catherine Chaussain , Maria Louisa Brandi , Lars Savendahl , Karine Briot , Peter Kamenicky , Lars Rejnmark , Agnès Linglart

Quantification of FAM20A in human milk and identification of calcium metabolism proteins.

Physiological reports

Avec: Vaksha Patel , Enriko Klootwijk , Gail Whiting , Detlef Bockenhauer , Keith Siew , Stephen Walsh , Markus Bleich , Nina Himmerkus , Graciana Jaureguiberry , Naomi Issler , Jasminka Godovac-Zimmermann , Robert Kleta , Jun Wheeler

Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome: The PREDNOS 2 Randomized Clinical Trial.

JAMA pediatrics

Avec: Martin T Christian , Nicholas J A Webb , Samir Mehta , Rebecca L Woolley , Nafsika Afentou , Emma Frew , Elizabeth A Brettell , Adam R Khan , David V Milford , Detlef Bockenhauer , Moin A Saleem , Angela S Hall , Ania Koziell , Heather Maxwell , Shivaram Hegde , Hitesh Prajapati , Rodney D Gilbert , Caroline Jones , Karl McKeever , Wendy Cook , Natalie Ives

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

The New England journal of medicine

Avec: Auteur inconnu , Damian Smedley , Katherine R Smith , Antonio Martin , Ellen A Thomas , Ellen M McDonagh , Valentina Cipriani , Jamie M Ellingford , Gavin Arno , Arianna Tucci , Jana Vandrovcova , Georgia Chan , Hywel J Williams , Thiloka Ratnaike , Wei Wei , Kathleen Stirrups , Kristina Ibanez , Loukas Moutsianas , Matthias Wielscher , Anna Need , Michael R Barnes , Letizia Vestito , James Buchanan , Sarah Wordsworth , Sofie Ashford , Karola Rehmström , Emily Li , Gavin Fuller , Philip Twiss , Olivera Spasic-Boskovic , Sally Halsall , R Andres Floto , Kenneth Poole , Annette Wagner , Sarju G Mehta , Mark Gurnell , Nigel Burrows , Roger James , Christopher Penkett , Eleanor Dewhurst , Stefan Gräf , Rutendo Mapeta , Mary Kasanicki , Andrea Haworth , Helen Savage , Melanie Babcock , Martin G Reese , Mark Bale , Emma Baple , Christopher Boustred , Helen Brittain , Anna de Burca , Marta Bleda , Andrew Devereau , Dina Halai , Eik Haraldsdottir , Zerin Hyder , Dalia Kasperaviciute , Christine Patch , Dimitris Polychronopoulos , Angela Matchan , Razvan Sultana , Mina Ryten , Ana L T Tavares , Carolyn Tregidgo , Clare Turnbull , Matthew Welland , Suzanne Wood , Catherine Snow , Eleanor Williams , Sarah Leigh , Rebecca E Foulger , Louise C Daugherty , Olivia Niblock , Ivone U S Leong , Caroline F Wright , Jim Davies , Charles Crichton , James Welch , Kerrie Woods , Lara Abulhoul , Paul Aurora , Detlef Bockenhauer , Alexander Broomfield , Maureen A Cleary , Tanya Lam , Mehul Dattani , Emma Footitt , Vijeya Ganesan , Stephanie Grunewald , Sandrine Compeyrot-Lacassagne , Francesco Muntoni , Clarissa Pilkington , Rosaline Quinlivan , Nikhil Thapar , Colin Wallis , Lucy R Wedderburn , Austen Worth , Teofila Bueser , Cecilia Compton , Charu Deshpande , Hiva Fassihi , Eshika Haque , Louise Izatt , Dragana Josifova , Shehla Mohammed , Leema Robert , Sarah Rose , Deborah Ruddy , Robert Sarkany , Genevieve Say , Adam C Shaw , Agata Wolejko , Bishoy Habib , Gavin Burns , Sarah Hunter , Russell J Grocock , Sean J Humphray , Peter N Robinson , Melissa Haendel , Michael A Simpson , Siddharth Banka , Jill Clayton-Smith , Sofia Douzgou , Georgina Hall , Huw B Thomas , Raymond T O'Keefe , Michel Michaelides , Anthony T Moore , Sam Malka , Nikolas Pontikos , Andrew C Browning , Volker Straub , Gráinne S Gorman , Rita Horvath , Richard Quinton , Andrew M Schaefer , Patrick Yu-Wai-Man , Doug M Turnbull , Robert McFarland , Robert W Taylor , Emer O'Connor , Janice Yip , Katrina Newland , Huw R Morris , James Polke , Nicholas W Wood , Carolyn Campbell , Carme Camps , Kate Gibson , Nils Koelling , Tracy Lester , Andrea H Németh , Claire Palles , Smita Patel , Noemi B A Roy , Arjune Sen , John Taylor , Pilar Cacheiro , Julius O Jacobsen , Eleanor G Seaby , Val Davison , Lyn Chitty , Angela Douglas , Kikkeri Naresh , Dom McMullan , Sian Ellard , I Karen Temple , Andrew D Mumford , Gill Wilson , Phil Beales , Maria Bitner-Glindzicz , Graeme Black , John R Bradley , Paul Brennan , John Burn , Patrick F Chinnery , Perry Elliott , Frances Flinter , Henry Houlden , Melita Irving , William Newman , Shamima Rahman , John A Sayer , Jenny C Taylor , Andrew R Webster , Andrew O M Wilkie , Willem H Ouwehand , F Lucy Raymond , John Chisholm , Sue Hill , David Bentley , Richard H Scott , Tom Fowler , Augusto Rendon , Mark Caulfield

Hyponatraemia despite isotonic maintenance fluid therapy: a time series intervention study.

Archives of disease in childhood

Avec: Milan Chromek , Åsa Jungner , Niclas Rudolfson , David Ley , Detlef Bockenhauer , Lars Hagander

The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results.

Orphanet journal of rare diseases

Avec: Giulia Bassanese , Tanja Wlodkowski , Aude Servais , Laurence Heidet , Dario Roccatello , Francesco Emma , Elena Levtchenko , Gema Ariceta , Justine Bacchetta , Giovambattista Capasso , Augustina Jankauskiene , Marius Miglinas , Pietro Manuel Ferraro , Giovanni Montini , Jun Oh , Stephane Decramer , Tanja Kersnik Levart , Jack Wetzels , Elisabeth Cornelissen , Olivier Devuyst , Aleksandra Zurowska , Lars Pape , Anja Buescher , Dieter Haffner , Natasa Marcun Varda , Gian Marco Ghiggeri , Giuseppe Remuzzi , Martin Konrad , Germana Longo , Detlef Bockenhauer , Atif Awan , Ilze Andersone , Jaap W Groothoff , Franz Schaefer

Perspectives of Clinicians on Shared Decision Making in Pediatric CKD: A Qualitative Study.

American journal of kidney diseases : the official journal of the National Kidney Foundation

Avec: Jasmijn Kerklaan , Camilla S Hanson , Simon Carter , Allison Tong , Aditi Sinha , Allison Dart , Allison A Eddy , Chandana Guha , Debbie S Gipson , Detlef Bockenhauer , Elyssa Hannan , Hui-Kim Yap , Jaap Groothoff , Michael Zappitelli , Noa Amir , Stephen I Alexander , Susan L Furth , Susan Samuel , Talia Gutman , Jonathan C Craig

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

medRxiv : the preprint server for health sciences

Avec: Valentina Cipriani , Letizia Vestito , Emma F Magavern , Julius Ob Jacobsen , Gavin Arno , Elijah R Behr , Katherine A Benson , Marta Bertoli , Detlef Bockenhauer , Michael R Bowl , Kate Burley , Li F Chan , Patrick Chinnery , Peter Conlon , Marcos Costa , Alice E Davidson , Sally J Dawson , Elhussein Elhassan , Sarah E Flanagan , Marta Futema , Daniel P Gale , Sonia García-Ruiz , Cecilia Gonzalez Corcia , Helen R Griffin , Sophie Hambleton , Amy R Hicks , Henry Houlden , Richard S Houlston , Sarah A Howles , Robert Kleta , Iris Lekkerkerker , Siying Lin , Petra Liskova , Hannah Mitchison , Heba Morsy , Andrew D Mumford , William G Newman , Ruxandra Neatu , Edel A O'Toole , Albert Cm Ong , Alistair T Pagnamenta , Shamima Rahman , Neil Rajan , Peter N Robinson , Mina Ryten , Omid Sadeghi-Alavijeh , John A Sayer , Claire L Shovlin , Jenny C Taylor , Omri Teltsh , Ian Tomlinson , Arianna Tucci , Clare Turnbull , Albertien M van Eerde , James S Ware , Laura M Watts , Andrew R Webster , Sarah K Westbury , Sean L Zheng , Mark Caulfield , Damian Smedley

Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?

Pediatric nephrology (Berlin, Germany)

Avec: Zainab Arslan , Hazel Webb , Emma Ashton , Becky Foxler , Kjell Tullus , Aoife Waters , Detlef Bockenhauer

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

Kidney international reports

Avec: Jens Christian König , Rebeka Karsay , Joachim Gerß , Karl-Peter Schlingmann , Mareike Dahmer-Heath , Anna-Katharina Telgmann , Sabine Kollmann , Gema Ariceta , Valentine Gillion , Detlef Bockenhauer , Aurélia Bertholet-Thomas , Antonio Mastrangelo , Olivia Boyer , Marc Lilien , Stéphane Decramer , Joost P Schanstra , Martin Pohl , Raphael Schild , Stefanie Weber , Julia Hoefele , Jens Drube , Metin Cetiner , Matthias Hansen , Julia Thumfart , Burkhard Tönshoff , Sandra Habbig , Max Christoph Liebau , Martin Bald , Carsten Bergmann , Petra Pennekamp , Martin Konrad , Auteur inconnu

Diverse ancestry whole-genome sequencing association study identifies

eLife

Avec: Melanie M Y Chan , Omid Sadeghi-Alavijeh , Filipa M Lopes , Alina C Hilger , Horia C Stanescu , Catalin D Voinescu , Glenda M Beaman , William G Newman , Marcin Zaniew , Stefanie Weber , Yee Mang Ho , John O Connolly , Dan Wood , Carlo Maj , Alexander Stuckey , Athanasios Kousathanas , Auteur inconnu , Robert Kleta , Adrian S Woolf , Detlef Bockenhauer , Adam P Levine , Daniel P Gale

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

Journal of inherited metabolic disease

Avec: Koenraad Veys , Ward Zadora , Katharina Hohenfellner , Detlef Bockenhauer , Mirian C H Janssen , Patrick Niaudet , Aude Servais , Rezan Topaloglu , Martine Besouw , Robert Novo , Dieter Haffner , Nele Kanzelmeyer , Lars Pape , Elke Wühl , Erik Harms , Atif Awan , Przemyslaw Sikora , Gema Ariceta , Bert van den Heuvel , Elena Levtchenko

The pathophysiology of distal renal tubular acidosis.

Nature reviews. Nephrology

Avec: Carsten A Wagner , Robert Unwin , Sergio C Lopez-Garcia , Robert Kleta , Detlef Bockenhauer , Stephen Walsh

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.

Genome medicine

Avec: Nikolai Tschernoster , Florian Erger , Stefan Kohl , Björn Reusch , Andrea Wenzel , Stephen Walsh , Holger Thiele , Christian Becker , Marek Franitza , Malte P Bartram , Martin Kömhoff , Lena Schumacher , Christian Kukat , Tatiana Borodina , Claudia Quedenau , Peter Nürnberg , Markus M Rinschen , Jan H Driller , Bjørn P Pedersen , Karl P Schlingmann , Bruno Hüttel , Detlef Bockenhauer , Bodo Beck , Janine Altmüller

International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance).

Nature reviews. Nephrology

Avec: Elena Levtchenko , Gema Ariceta , Olga Arguedas Flores , Daniel G Bichet , Detlef Bockenhauer , Francesco Emma , Ewout J Hoorn , Linda Koster-Kamphuis , Tom Nijenhuis , Francesco Trepiccione , Rosa Vargas-Poussou , Stephen B Walsh , Nine V A M Knoers

Réseau de co-auteurs

Robert Kleta 26 collaborations

None None 13 collaborations

Francesco Emma 12 collaborations

Franz Schaefer 12 collaborations

Gema Ariceta 12 collaborations

Elena Levtchenko 12 collaborations

Stephen B Walsh 11 collaborations

Martin Konrad 10 collaborations

Daniel P Gale 10 collaborations

Rosa Vargas-Poussou 9 collaborations

Emma Ashton 8 collaborations

Daniela Iancu 8 collaborations

Mallory L Downie 7 collaborations

Olivia Boyer 7 collaborations

Dieter Haffner 7 collaborations

Allison Tong 7 collaborations

Jonathan C Craig 7 collaborations

Aditi Sinha 7 collaborations

Allison Dart 7 collaborations

Hui-Kim Yap 7 collaborations

Jaap Groothoff 7 collaborations

Stephen I Alexander 7 collaborations

Susan Samuel 7 collaborations

Wesley Hayes 6 collaborations

Tom Nijenhuis 6 collaborations

Stéphane Decramer 6 collaborations

Olivier Devuyst 6 collaborations

Francesco Trepiccione 6 collaborations

Talia Gutman 6 collaborations

Allison A Eddy 6 collaborations

Debbie S Gipson 6 collaborations

Michael Zappitelli 6 collaborations

Amanda Walker 6 collaborations

Camilla S Hanson 6 collaborations

Horia C Stanescu 6 collaborations

Sanjana Gupta 6 collaborations

Justine Bacchetta 6 collaborations

Djalila Mekahli 5 collaborations

Stefanie Weber 5 collaborations

Ewout J Hoorn 5 collaborations

John A Sayer 5 collaborations

Rodney D Gilbert 5 collaborations

Nicholas J A Webb 5 collaborations

Omid Sadeghi-Alavijeh 5 collaborations

Adam P Levine 5 collaborations

Susan L Furth 5 collaborations

Chandana Guha 5 collaborations

Hazel Webb 5 collaborations

Carsten Bergmann 4 collaborations

William Van't Hoff 4 collaborations

Daniel G Bichet 4 collaborations

Karl P Schlingmann 4 collaborations

Melanie M Y Chan 4 collaborations

Pascal Houillier 4 collaborations

Martine Besouw 4 collaborations

Linda Koster-Kamphuis 4 collaborations

Tanja Wlodkowski 4 collaborations

Rezan Topaloglu 4 collaborations

Moin A Saleem 4 collaborations

Horia Stanescu 4 collaborations

Francesca Taroni 4 collaborations

Stephanie Dufek 4 collaborations

Joshua Kausman 4 collaborations

Jameela A Kari 4 collaborations

Aoife Waters 4 collaborations

Jens König 3 collaborations

Max C Liebau 3 collaborations

Jun Oh 3 collaborations

Marguerite Hureaux 3 collaborations

Albertien M van Eerde 3 collaborations

Nine V A M Knoers 3 collaborations

Jeroen H F de Baaij 3 collaborations

Claudio La Scola 3 collaborations

Atif Awan 3 collaborations

Ismail Dursun 3 collaborations

Nakysa Hooman 3 collaborations

Rajiv Sinha 3 collaborations

Hendrica Belge 3 collaborations

Lars Pape 3 collaborations

Fatih Ozaltin 3 collaborations

Aude Servais 3 collaborations

Robert Novo 3 collaborations

Aurélia Bertholet-Thomas 3 collaborations

Martin T Christian 3 collaborations

Rebecca L Woolley 3 collaborations

Nafsika Afentou 3 collaborations

Samir Mehta 3 collaborations

Emma Frew 3 collaborations

Elizabeth A Brettell 3 collaborations

Adam R Khan 3 collaborations

David V Milford 3 collaborations

Angela S Hall 3 collaborations

Ania Koziell 3 collaborations

Heather Maxwell 3 collaborations

Shivaram Hegde 3 collaborations

Caroline Jones 3 collaborations

Karl McKeever 3 collaborations

Wendy Cook 3 collaborations

Mini Michael 3 collaborations

Wolfgang C Winkelmayer 3 collaborations

Steven McTaggart 3 collaborations

Angela Ju 3 collaborations

Catalin D Voinescu 3 collaborations

Sian Ellard 3 collaborations

Karine E Manera 3 collaborations

Simon Carter 3 collaborations

Kjell Tullus 3 collaborations

Chris Cheshire 3 collaborations

Julia Thumfart 3 collaborations

Marcin Zaniew 3 collaborations

Andrea Pasini 3 collaborations

Francesca Lugani 3 collaborations

Naomi Issler 3 collaborations

Simon A Carter 3 collaborations

Anne Blanchard 3 collaborations

Pietro Manuel Ferraro 3 collaborations

Marc Fila 3 collaborations

Barian Mohidin 3 collaborations

Fernando Santos 3 collaborations

Maria Szczepanska 3 collaborations

David Game 3 collaborations

Mehul Dattani 3 collaborations

Stephen Walsh 3 collaborations

Melissa A Cadnapaphornchai 2 collaborations

Metin Cetiner 2 collaborations

Matko Marlais 2 collaborations

Stephen D Marks 2 collaborations

Sonia Sharma 2 collaborations

Marie-Francoise Arthus 2 collaborations

Daan Viering 2 collaborations

Andrew Mallett 2 collaborations

Günter Klaus 2 collaborations

Martin Kömhoff 2 collaborations

Valentine Gillion 2 collaborations

Sergio C Lopez-Garcia 2 collaborations

Ji Soo Kim 2 collaborations

Svetlana Papizh 2 collaborations

Biswanath Basu 2 collaborations

Dominique Chauveau 2 collaborations

Leire Madariaga 2 collaborations

Pierluigi Marzuillo 2 collaborations

Despoina Tramma 2 collaborations

Nikoleta Printza 2 collaborations

Raphael Schild 2 collaborations

Stefano Guarino 2 collaborations

Katharina Hohenfellner 2 collaborations

Koenraad Veys 2 collaborations

Elisabeth Cornelissen 2 collaborations

Corinne Antignac 2 collaborations

Patrick Niaudet 2 collaborations

Natalie Ives 2 collaborations

William Mifsud 2 collaborations

Yifan Zhang 2 collaborations

Susan Furth 2 collaborations

Tom D Blydt-Hansen 2 collaborations

Janis Dionne 2 collaborations

Scott E Wenderfer 2 collaborations

Angelique F Ralph 2 collaborations

Laura J James 2 collaborations

D Bockenhauer 2 collaborations

Alexander Stuckey 2 collaborations

Athanasios Kousathanas 2 collaborations

Kai-Uwe Eckardt 2 collaborations

Matthias Kretzler 2 collaborations

Pierre Ronco 2 collaborations

Adrian S Woolf 2 collaborations

Armando Teixeira-Pinto 2 collaborations

Andrea K Viecelli 2 collaborations

Stuart L Goldstein 2 collaborations

Sarah E Flanagan 2 collaborations

Khalid Hussain 2 collaborations

Aurelia Bertholet-Thomas 2 collaborations

Giovambattista Capasso 2 collaborations

Lieke Hoogenboom 2 collaborations

Jingjing Cao 2 collaborations

Ruth J Pepper 2 collaborations

Laurence Heidet 2 collaborations

Sandra Habbig 2 collaborations

Burkhard Tönshoff 2 collaborations

Joost P Schanstra 2 collaborations

Stephanie Dufek-Kamperis 2 collaborations

Dario Roccatello 2 collaborations

Jennifer C Chandler 2 collaborations

Mona Tahoun 2 collaborations

Felipe D'Arco 2 collaborations

Marwa H Saied 2 collaborations

Salah Marzouk 2 collaborations

Holger Thiele 2 collaborations

Peter Nürnberg 2 collaborations

Aoife M Waters 2 collaborations

Charu Deshpande 2 collaborations

Harika Alpay 2 collaborations

Kathrin Burgmaier 2 collaborations

Telma Francisco 2 collaborations

Gian Marco Ghiggeri 2 collaborations

Valerie Said Conti 2 collaborations

Enrico Vidal 2 collaborations

Elizabeth R Wan 2 collaborations

Selçuk Yüksel 2 collaborations

Jeremy Allgrove 2 collaborations

Keith Siew 2 collaborations

Martin Christian 2 collaborations

Shenal Thalgahagoda 2 collaborations

Randula Ranawaka 2 collaborations

Asiri Abeyagunawardena 2 collaborations

Rasheed Gbadegesin 2 collaborations

Tuula Hölttä 2 collaborations

Sandra Bérody 2 collaborations

Marina Vivarelli 2 collaborations

Charlotte Logeman 2 collaborations

Alicia Neu 2 collaborations

Isaac Liu 2 collaborations

Neveen A Soliman 2 collaborations

Monika Mozere 2 collaborations

Enriko Klootwijk 2 collaborations

Vaksha Patel 2 collaborations

Jack Wetzels 2 collaborations

Sergio Camilo Lopez-Garcia 2 collaborations

Giacomo Colussi 2 collaborations

Velibor Tasic 2 collaborations

Marc Lilien 2 collaborations

Milan Chromek 2 collaborations

Elke Wühl 2 collaborations

Marius Miglinas 2 collaborations

Noa Amir 2 collaborations

Peter Conlon 2 collaborations

Katie Wong 2 collaborations

David Pitcher 2 collaborations

Fiona Braddon 2 collaborations

Lewis Downward 2 collaborations

Retha Steenkamp 2 collaborations

Nicholas Annear 2 collaborations

Jonathan Barratt 2 collaborations

Coralie Bingham 2 collaborations

Richard J Coward 2 collaborations

Sian Griffin 2 collaborations

Matt Hall 2 collaborations

Sally Johnson 2 collaborations

Durga Kanigicherla 2 collaborations

Fiona Karet Frankl 2 collaborations

David Kavanagh 2 collaborations

Larissa Kerecuk 2 collaborations

Eamonn R Maher 2 collaborations

Shabbir Moochhala 2 collaborations

Jenny Pinney 2 collaborations

Roslyn Simms 2 collaborations

Smeeta Sinha 2 collaborations

Shalabh Srivastava 2 collaborations

Frederick W K Tam 2 collaborations

Patricia Wilson 2 collaborations

Edwin Wong 2 collaborations

Dorothea Nitsch 2 collaborations

Moin Saleem 2 collaborations

Kate Bramham 2 collaborations

Maria Bitner-Glindzicz 2 collaborations

Augustina Jankauskiene 2 collaborations

Dirk Schnabel 2 collaborations

Damian Smedley 2 collaborations

Valentina Cipriani 2 collaborations

Gavin Arno 2 collaborations

Arianna Tucci 2 collaborations

Letizia Vestito 2 collaborations

Mina Ryten 2 collaborations

Clare Turnbull 2 collaborations

Peter N Robinson 2 collaborations

Andrew D Mumford 2 collaborations

Henry Houlden 2 collaborations

Shamima Rahman 2 collaborations

Jenny C Taylor 2 collaborations

Andrew R Webster 2 collaborations

Mark Caulfield 2 collaborations

William G Newman 2 collaborations

Charlotte Gimpel 1 collaboration

Luc Breysem 1 collaboration

Jan Dudley 1 collaboration

Tess Harris 1 collaboration

Peter C Harris 1 collaboration

Alison M Metcalfe 1 collaboration

Ronald D Perrone 1 collaboration

Manish D Sinha 1 collaboration

Andrea Titieni 1 collaboration

Roser Torra 1 collaboration

Paul J D Winyard 1 collaboration

Catherine Longley 1 collaboration

Nicola Scanlon 1 collaboration

William Bryant 1 collaboration

Jelena Stojanovic 1 collaboration

Nicos Kessaris 1 collaboration

André van Beek 1 collaboration

Jean-Marie Coulibaly 1 collaboration

Marion Vallet 1 collaboration

Solenne Pelletier 1 collaboration

Rolf Beetz 1 collaboration

Chirag Patel 1 collaboration

Mohan Shenoy 1 collaboration

Eric J Steenbergen 1 collaboration

Glenn Anderson 1 collaboration

Ernie M H F Bongers 1 collaboration

Daan Panneman 1 collaboration

Richard J Rodenburg 1 collaboration

Aparna Renigunta 1 collaboration

Anna-Lena Forst 1 collaboration

Vijay Renigunta 1 collaboration

Velko Atanasov 1 collaboration

Sinthura Mahendran 1 collaboration

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