基本信息
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Career Trajectory
Bio
As a clinician-scientist, I pursue both clinicaland laboratory investigations to achieve these aims. My current research istypically prompted by novel clinical observations, the basis of which is theninvestigated in the laboratory.
I mainly use genetic investigations to identify the molecular basis and I have contributed to the description of so far two previously unrecognised disorders and their genetic basis. In addition, I have contributed to the identification of numerous new disease genes.
I have also detailed the clinical phenotype of several inherited diseases in order to better understand the clnical consequences of the molecular defect and to gather data on treatment and prognosis.
I am involved in the development of a zebrafish model for EAST syndrome to develop new treatments.
I mainly use genetic investigations to identify the molecular basis and I have contributed to the description of so far two previously unrecognised disorders and their genetic basis. In addition, I have contributed to the identification of numerous new disease genes.
I have also detailed the clinical phenotype of several inherited diseases in order to better understand the clnical consequences of the molecular defect and to gather data on treatment and prognosis.
I am involved in the development of a zebrafish model for EAST syndrome to develop new treatments.
Research Interests
Papers共 405 篇Author StatisticsCo-AuthorSimilar Experts
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NEPHROLOGY DIALYSIS TRANSPLANTATION (2024): I4-I5
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
American journal of kidney diseases the official journal of the National Kidney Foundation (2024)
Acta paediatrica (Oslo, Norway 1992)no. 8 (2024): 1746-1747
Thibault Vanhove, Margo Aertgeerts, Peter Witters, Daisy Rymen,Detlef Böckenhauer, Glynis Frans, Pieter Vermeersch
Pediatric Nephrologypp.1-3, (2024)
crossref(2024)
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
Journal of Clinical Investigation (2024)
PEDIATRIC NEPHROLOGYno. 10 (2024): 2911-2913
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
LANCETno. 10433 (2024): 1279-1289
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Author Statistics
#Papers: 405
#Citation: 12881
H-Index: 59
G-Index: 105
Sociability: 8
Diversity: 3
Activity: 84
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