Publicaciones en colaboración con investigadoras/es de Necker-Enfants Malades Hospital (22)

2023

  1. Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology

    Clinical Genetics, Vol. 103, Núm. 1, pp. 114-118

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

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

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

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 12, pp. 2474-2486

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

2020

  1. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693

2019

  1. Betaine anhydrous in homocystinuria: Results from the RoCH registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2018

  1. Symptomatic management of febrile illnesses in children: A systematic review and meta-analysis of parents' knowledge and behaviors and their evolution over time

    Frontiers in Pediatrics, Vol. 6

  2. Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis

    Blood, Vol. 132, Núm. 19, pp. 2088-2096

2017

  1. International variability in gastrointestinal decontamination with acute poisonings

    Pediatrics, Vol. 140, Núm. 2

2016

  1. Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation

    Pediatric Nephrology, Vol. 31, Núm. 10, pp. 1705-1708

2014

  1. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step pcrbased enrichment in combination with next-generation sequencing

    Diabetes Care, Vol. 37, Núm. 2, pp. 460-467

2013

  1. GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus

    Diabetes Technology and Therapeutics

  2. Lessons from the Hvidoere International Study Group on childhood diabetes: Be dogmatic about outcome and flexible in approach

    Pediatric Diabetes, Vol. 14, Núm. 7, pp. 473-480

  3. Metabolic outcomes in young children with type 1 diabetes differ between treatment centers: The Hvidoere study in young children 2009

    Pediatric Diabetes, Vol. 14, Núm. 6, pp. 422-428

  4. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078

2012

  1. GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus

    New England Journal of Medicine, Vol. 366, Núm. 5, pp. 433-442

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2009

  1. Expanding CEP290 mutational spectrumin ciliopathies

    American Journal of Medical Genetics, Part A, Vol. 149, Núm. 10, pp. 2173-2180

2007

  1. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

    American Journal of Human Genetics, Vol. 81, Núm. 1, pp. 104-113

  2. New ABCC8 mutations in relapsing neonatal diabetes and clinical features

    Diabetes, Vol. 56, Núm. 6, pp. 1737-1741